Mutagenetix > Incidental Mutation

Incidental Mutation 'R8988:Dync2h1'

684229

Institutional Source

Beutler Lab

Gene Symbol

Dync2h1

Ensembl Gene

ENSMUSG00000047193

Gene Name

dynein cytoplasmic 2 heavy chain 1

Synonyms

4432416O06Rik, DHC2, D030010H02Rik, D330044F14Rik, Dnchc2, DHC1b, b2b414Clo

MMRRC Submission

068820-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8988 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

6928503-7184446 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 7037727 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 3377 (F3377L)

Ref Sequence

ENSEMBL: ENSMUSP00000046733 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048417] [ENSMUST00000140466] [ENSMUST00000147193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048417
AA Change: F3377L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: F3377L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000139671

SMART Domains

Protein: ENSMUSP00000116242
Gene: ENSMUSG00000047193

Domain	Start	End	E-Value	Type
low complexity region	59	73	N/A	INTRINSIC
Pfam:AAA_8	89	352	3e-29	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140466
AA Change: F3377L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: F3377L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	187	676	1.6e-43	PFAM
Pfam:DHC_N2	1117	1523	4.1e-120	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2881	6.8e-27	PFAM
Pfam:MT	2894	3230	5.4e-28	PFAM
Pfam:AAA_9	3242	3471	1.1e-50	PFAM
Pfam:Dynein_heavy	3605	4304	2.3e-136	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000147193
AA Change: F3384L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: F3384L

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	188	674	4e-45	PFAM
Pfam:DHC_N2	1118	1521	5.5e-111	PFAM
AAA	1684	1830	3.72e-2	SMART
AAA	1971	2127	2.18e0	SMART
AAA	2283	2431	1.66e0	SMART
low complexity region	2588	2602	N/A	INTRINSIC
Pfam:AAA_8	2618	2880	4.4e-27	PFAM
Pfam:MT	2894	3230	1.3e-27	PFAM
Pfam:AAA_9	3246	3477	1e-79	PFAM
Pfam:Dynein_heavy	3618	4310	8.5e-158	PFAM

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

96% (81/84)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a large cytoplasmic dynein protein that is involved in retrograde transport in the cilium and has a role in intraflagellar transport, a process required for ciliary/flagellar assembly. Mutations in this gene cause a heterogeneous spectrum of conditions related to altered primary cilium function and often involve polydactyly, abnormal skeletogenesis, and polycystic kidneys. Alternative splicing results in multiple transcript variants encoding distinct proteins. [provided by RefSeq, Jan 2010]
PHENOTYPE: Homozygotes for a gene trap allele show complete embryonic lethality with altered heart looping and brain morphology. Chemically induced mutants show randomized heart looping and polydactyly. Holoprosencephaly or exencephaly, micrognathia, and cardiac, renal, airway and eye defects may be observed. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 84 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810403A07Rik	A	G	3: 88,699,979 (GRCm38)	N330S	probably benign	Het
Abi2	C	T	1: 60,450,092 (GRCm38)	T291I	probably benign	Het
Aox1	A	C	1: 58,049,466 (GRCm38)	D137A	possibly damaging	Het
Apbb2	T	C	5: 66,452,101 (GRCm38)	K68E	probably damaging	Het
Arf3	A	T	15: 98,741,052 (GRCm38)	M108K	probably benign	Het
Atg2b	T	A	12: 105,617,129 (GRCm38)	I2058F	probably damaging	Het
Bhlhe40	C	T	6: 108,662,557 (GRCm38)	L99F	probably damaging	Het
Cyp2b10	G	A	7: 25,926,245 (GRCm38)	R500H	probably damaging	Het
Dlc1	C	T	8: 36,572,843 (GRCm38)	E937K	probably damaging	Het
Dll3	A	T	7: 28,296,368 (GRCm38)	V336D	possibly damaging	Het
Eef1d	A	G	15: 75,896,311 (GRCm38)	Y561H	probably damaging	Het
Epb41l1	C	A	2: 156,521,671 (GRCm38)	T700K	probably benign	Het
Epha8	G	T	4: 136,938,586 (GRCm38)	L420M	probably damaging	Het
Ephb2	C	A	4: 136,675,458 (GRCm38)	G501C	probably benign	Het
Erbb3	T	C	10: 128,570,161 (GRCm38)	Y1129C	probably damaging	Het
Fbn1	C	T	2: 125,370,806 (GRCm38)	V799M	possibly damaging	Het
Fbxo9	G	A	9: 78,084,651 (GRCm38)	P353S	probably benign	Het
Ggt1	T	G	10: 75,576,222 (GRCm38)	V100G	probably benign	Het
Gm11639	T	G	11: 105,020,526 (GRCm38)	V4544G	probably benign	Het
Gm45861	T	C	8: 27,542,503 (GRCm38)	M885T	unknown	Het
Gm609	T	C	16: 45,417,908 (GRCm38)	H294R	probably benign	Het
Grin2d	A	T	7: 45,834,001 (GRCm38)	Y917*	probably null	Het
Hectd4	T	A	5: 121,277,756 (GRCm38)	V540D	possibly damaging	Het
Helz	T	A	11: 107,604,253 (GRCm38)	I351K	probably damaging	Het
Ighv2-6-8	A	G	12: 113,796,360 (GRCm38)	V43A	probably damaging	Het
Igkv9-129	T	A	6: 67,840,122 (GRCm38)	I70N	probably damaging	Het
Il18	A	T	9: 50,577,878 (GRCm38)	D69V	probably damaging	Het
Kcnh7	T	A	2: 62,721,865 (GRCm38)	E927D		Het
Kcnt2	T	A	1: 140,428,849 (GRCm38)	V342E	probably benign	Het
Krt1	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC	15: 101,850,378 (GRCm38)		probably benign	Het
Krt18	C	G	15: 102,029,527 (GRCm38)	A153G	probably damaging	Het
Lmntd2	A	T	7: 141,212,064 (GRCm38)		probably benign	Het
Lrrc26	G	T	2: 25,290,274 (GRCm38)	A96S	probably benign	Het
Map3k11	A	T	19: 5,702,138 (GRCm38)	S783C	probably damaging	Het
Mib2	G	A	4: 155,656,272 (GRCm38)	L632F	possibly damaging	Het
Mical2	A	C	7: 112,311,454 (GRCm38)	D277A	possibly damaging	Het
Mtr	A	T	13: 12,235,479 (GRCm38)	F339L	probably benign	Het
Musk	T	C	4: 58,354,032 (GRCm38)	F362L	probably benign	Het
Ncor1	G	A	11: 62,343,045 (GRCm38)	Q444*	probably null	Het
Nek4	T	C	14: 30,963,967 (GRCm38)	S279P		Het
Nell1	C	T	7: 50,560,795 (GRCm38)	T348I	unknown	Het
Nicn1	C	T	9: 108,294,509 (GRCm38)	R163C	possibly damaging	Het
Nrip1	T	C	16: 76,292,014 (GRCm38)	H885R	probably damaging	Het
Olfr1382	C	A	11: 49,535,201 (GRCm38)	N5K	probably damaging	Het
Olfr214	A	G	6: 116,557,294 (GRCm38)	T290A	possibly damaging	Het
Olfr448	T	A	6: 42,897,267 (GRCm38)	V272D		Het
Olfr525	G	A	7: 140,323,025 (GRCm38)	G109R	possibly damaging	Het
Olfr784	T	C	10: 129,388,371 (GRCm38)	V246A	probably damaging	Het
Olfr822	T	A	10: 130,074,653 (GRCm38)	V81D	possibly damaging	Het
Otog	A	G	7: 46,310,147 (GRCm38)	D720G	probably damaging	Het
P3h3	C	A	6: 124,857,601 (GRCm38)	Q29H	possibly damaging	Het
Parn	A	G	16: 13,648,417 (GRCm38)		probably null	Het
Pcnt	C	A	10: 76,409,573 (GRCm38)	E1077*	probably null	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm38)		probably benign	Het
Pigb	A	G	9: 73,022,294 (GRCm38)	W336R	probably damaging	Het
Pkdrej	A	T	15: 85,816,337 (GRCm38)	S1799R	probably damaging	Het
Pnpla6	G	T	8: 3,517,401 (GRCm38)	M86I	possibly damaging	Het
Prickle2	T	C	6: 92,458,639 (GRCm38)	K50E	possibly damaging	Het
Psg21	A	G	7: 18,652,464 (GRCm38)	V199A	probably benign	Het
Reep3	T	C	10: 67,036,007 (GRCm38)		probably null	Het
Reln	T	C	5: 21,899,157 (GRCm38)	D3272G	probably damaging	Het
Rps6ka4	A	G	19: 6,831,299 (GRCm38)	V526A	possibly damaging	Het
Sel1l3	T	C	5: 53,123,429 (GRCm38)	E911G	probably damaging	Het
Serpinb6b	C	A	13: 32,978,142 (GRCm38)	A308E	probably benign	Het
Slc26a4	A	G	12: 31,522,524 (GRCm38)	V746A	probably benign	Het
Slc4a3	T	G	1: 75,551,313 (GRCm38)	M402R	probably damaging	Het
Slc9b1	A	T	3: 135,373,139 (GRCm38)	T186S	possibly damaging	Het
Slk	A	G	19: 47,620,273 (GRCm38)	Q555R	probably benign	Het
Smc2	T	A	4: 52,475,100 (GRCm38)	D925E	probably benign	Het
Stat5a	A	T	11: 100,883,938 (GRCm38)	T758S	unknown	Het
Sulf1	A	G	1: 12,836,275 (GRCm38)	S514G	probably benign	Het
Tcp11l1	T	A	2: 104,706,508 (GRCm38)	N4I	probably damaging	Het
Tex2	A	T	11: 106,511,905 (GRCm38)	I1047K	unknown	Het
Tmem184b	A	G	15: 79,377,064 (GRCm38)	V114A	possibly damaging	Het
Trmt11	A	G	10: 30,591,031 (GRCm38)	V95A	probably benign	Het
Trp53bp2	A	G	1: 182,440,868 (GRCm38)	D169G	possibly damaging	Het
Ttc41	T	A	10: 86,713,735 (GRCm38)	N264K	possibly damaging	Het
Uba2	A	C	7: 34,154,562 (GRCm38)	S318R	probably benign	Het
Wapl	T	A	14: 34,729,182 (GRCm38)	N724K	probably damaging	Het
Wfdc9	T	A	2: 164,651,751 (GRCm38)	I5F	probably damaging	Het
Zan	C	T	5: 137,408,301 (GRCm38)	D3686N	unknown	Het
Zfp618	A	T	4: 63,094,471 (GRCm38)	Y140F	probably benign	Het
Zfp790	A	G	7: 29,828,168 (GRCm38)	T93A	probably benign	Het
Zfp979	A	C	4: 147,613,527 (GRCm38)	F242V	probably benign	Het

Other mutations in Dync2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dync2h1	APN	9	7,158,839 (GRCm38)	missense	probably benign	0.42
IGL00310:Dync2h1	APN	9	7,155,072 (GRCm38)	splice site	probably benign
IGL00499:Dync2h1	APN	9	7,168,700 (GRCm38)	missense	possibly damaging	0.95
IGL00579:Dync2h1	APN	9	7,035,728 (GRCm38)	splice site	probably benign
IGL00660:Dync2h1	APN	9	7,075,797 (GRCm38)	missense	probably damaging	0.98
IGL00964:Dync2h1	APN	9	7,174,881 (GRCm38)	splice site	probably benign
IGL01025:Dync2h1	APN	9	7,162,789 (GRCm38)	missense	probably damaging	1.00
IGL01093:Dync2h1	APN	9	7,145,611 (GRCm38)	missense	probably benign	0.01
IGL01108:Dync2h1	APN	9	7,176,771 (GRCm38)	missense	possibly damaging	0.87
IGL01126:Dync2h1	APN	9	7,116,588 (GRCm38)	missense	probably benign	0.00
IGL01474:Dync2h1	APN	9	7,102,493 (GRCm38)	missense	probably benign	0.01
IGL01531:Dync2h1	APN	9	7,071,111 (GRCm38)	missense	probably benign	0.11
IGL01548:Dync2h1	APN	9	7,071,922 (GRCm38)	missense	probably damaging	1.00
IGL01621:Dync2h1	APN	9	7,140,897 (GRCm38)	critical splice donor site	probably null
IGL01672:Dync2h1	APN	9	7,118,884 (GRCm38)	nonsense	probably null
IGL01681:Dync2h1	APN	9	7,142,196 (GRCm38)	splice site	probably null
IGL01685:Dync2h1	APN	9	7,142,297 (GRCm38)	missense	probably damaging	1.00
IGL01724:Dync2h1	APN	9	7,081,077 (GRCm38)	missense	probably benign	0.03
IGL01738:Dync2h1	APN	9	7,114,922 (GRCm38)	missense	possibly damaging	0.77
IGL01783:Dync2h1	APN	9	7,118,822 (GRCm38)	unclassified	probably benign
IGL01813:Dync2h1	APN	9	7,122,799 (GRCm38)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,114,973 (GRCm38)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,011,207 (GRCm38)	missense	probably benign	0.33
IGL02105:Dync2h1	APN	9	7,075,892 (GRCm38)	missense	probably damaging	1.00
IGL02137:Dync2h1	APN	9	7,134,349 (GRCm38)	missense	probably benign
IGL02140:Dync2h1	APN	9	7,147,791 (GRCm38)	missense	probably benign
IGL02175:Dync2h1	APN	9	7,111,548 (GRCm38)	missense	possibly damaging	0.91
IGL02283:Dync2h1	APN	9	7,125,912 (GRCm38)	missense	probably damaging	0.99
IGL02305:Dync2h1	APN	9	7,122,678 (GRCm38)	missense	probably benign
IGL02342:Dync2h1	APN	9	7,142,246 (GRCm38)	missense	probably damaging	1.00
IGL02367:Dync2h1	APN	9	7,158,926 (GRCm38)	missense	probably damaging	0.98
IGL02458:Dync2h1	APN	9	7,117,422 (GRCm38)	missense	probably damaging	1.00
IGL02563:Dync2h1	APN	9	7,035,700 (GRCm38)	missense	possibly damaging	0.95
IGL02825:Dync2h1	APN	9	6,955,901 (GRCm38)	splice site	probably benign
IGL02955:Dync2h1	APN	9	7,142,864 (GRCm38)	missense	probably benign	0.00
IGL02992:Dync2h1	APN	9	7,137,074 (GRCm38)	missense	probably benign	0.01
IGL02996:Dync2h1	APN	9	6,935,279 (GRCm38)	missense	probably damaging	0.99
IGL03224:Dync2h1	APN	9	7,076,235 (GRCm38)	missense	probably benign	0.32
IGL03226:Dync2h1	APN	9	7,125,918 (GRCm38)	missense	probably benign
IGL03233:Dync2h1	APN	9	7,101,525 (GRCm38)	missense	possibly damaging	0.90
deinonychus	UTSW	9	7,159,478 (GRCm38)	splice site	probably null
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm38)	splice site	probably benign
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm38)	splice site	probably benign
R0043:Dync2h1	UTSW	9	7,005,574 (GRCm38)	missense	probably benign	0.05
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm38)	missense	probably damaging	1.00
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm38)	missense	probably damaging	1.00
R0121:Dync2h1	UTSW	9	7,001,327 (GRCm38)	splice site	probably benign
R0277:Dync2h1	UTSW	9	7,129,046 (GRCm38)	missense	probably benign
R0360:Dync2h1	UTSW	9	7,113,182 (GRCm38)	missense	possibly damaging	0.62
R0362:Dync2h1	UTSW	9	7,005,487 (GRCm38)	splice site	probably null
R0389:Dync2h1	UTSW	9	7,167,244 (GRCm38)	splice site	probably null
R0443:Dync2h1	UTSW	9	7,167,244 (GRCm38)	splice site	probably null
R0496:Dync2h1	UTSW	9	7,155,180 (GRCm38)	missense	probably benign	0.42
R0506:Dync2h1	UTSW	9	7,113,153 (GRCm38)	missense	probably benign	0.05
R0511:Dync2h1	UTSW	9	7,122,692 (GRCm38)	missense	probably benign	0.00
R0540:Dync2h1	UTSW	9	7,051,480 (GRCm38)	missense	probably benign	0.00
R0550:Dync2h1	UTSW	9	7,120,954 (GRCm38)	splice site	probably null
R0564:Dync2h1	UTSW	9	7,139,432 (GRCm38)	missense	probably damaging	1.00
R0607:Dync2h1	UTSW	9	7,051,480 (GRCm38)	missense	probably benign	0.00
R0699:Dync2h1	UTSW	9	7,103,680 (GRCm38)	missense	probably benign	0.00
R0725:Dync2h1	UTSW	9	7,015,497 (GRCm38)	missense	possibly damaging	0.93
R0835:Dync2h1	UTSW	9	7,116,642 (GRCm38)	critical splice acceptor site	probably null
R0837:Dync2h1	UTSW	9	7,077,979 (GRCm38)	missense	probably benign	0.07
R0894:Dync2h1	UTSW	9	7,041,734 (GRCm38)	splice site	probably benign
R0938:Dync2h1	UTSW	9	7,002,658 (GRCm38)	missense	probably benign	0.02
R1056:Dync2h1	UTSW	9	7,147,731 (GRCm38)	missense	probably benign	0.15
R1081:Dync2h1	UTSW	9	7,005,488 (GRCm38)	critical splice donor site	probably null
R1178:Dync2h1	UTSW	9	7,101,193 (GRCm38)	splice site	probably benign
R1243:Dync2h1	UTSW	9	7,120,882 (GRCm38)	missense	probably benign
R1295:Dync2h1	UTSW	9	7,075,752 (GRCm38)	splice site	probably benign
R1304:Dync2h1	UTSW	9	7,102,318 (GRCm38)	missense	probably damaging	1.00
R1387:Dync2h1	UTSW	9	7,125,816 (GRCm38)	missense	probably benign
R1513:Dync2h1	UTSW	9	7,103,663 (GRCm38)	missense	possibly damaging	0.74
R1557:Dync2h1	UTSW	9	7,140,911 (GRCm38)	missense	probably damaging	1.00
R1568:Dync2h1	UTSW	9	7,157,553 (GRCm38)	missense	probably null	0.02
R1570:Dync2h1	UTSW	9	7,176,926 (GRCm38)	missense	probably benign	0.12
R1670:Dync2h1	UTSW	9	6,993,942 (GRCm38)	missense	possibly damaging	0.82
R1713:Dync2h1	UTSW	9	7,131,891 (GRCm38)	missense	probably benign
R1766:Dync2h1	UTSW	9	7,015,526 (GRCm38)	critical splice acceptor site	probably null
R1773:Dync2h1	UTSW	9	7,128,256 (GRCm38)	missense	probably damaging	1.00
R1786:Dync2h1	UTSW	9	7,081,084 (GRCm38)	missense	probably damaging	1.00
R1848:Dync2h1	UTSW	9	7,049,166 (GRCm38)	missense	probably benign	0.01
R1850:Dync2h1	UTSW	9	7,001,448 (GRCm38)	missense	probably benign	0.00
R1935:Dync2h1	UTSW	9	7,139,159 (GRCm38)	critical splice donor site	probably null
R1936:Dync2h1	UTSW	9	7,139,159 (GRCm38)	critical splice donor site	probably null
R1937:Dync2h1	UTSW	9	7,139,159 (GRCm38)	critical splice donor site	probably null
R1939:Dync2h1	UTSW	9	7,139,159 (GRCm38)	critical splice donor site	probably null
R1940:Dync2h1	UTSW	9	7,139,159 (GRCm38)	critical splice donor site	probably null
R1944:Dync2h1	UTSW	9	7,001,377 (GRCm38)	missense	probably damaging	1.00
R1976:Dync2h1	UTSW	9	7,129,045 (GRCm38)	missense	probably benign
R2012:Dync2h1	UTSW	9	7,169,589 (GRCm38)	missense	probably benign	0.00
R2020:Dync2h1	UTSW	9	7,162,925 (GRCm38)	missense	probably benign	0.25
R2020:Dync2h1	UTSW	9	7,122,772 (GRCm38)	missense	probably damaging	0.99
R2024:Dync2h1	UTSW	9	7,129,062 (GRCm38)	missense	probably damaging	0.97
R2038:Dync2h1	UTSW	9	6,967,226 (GRCm38)	missense	probably damaging	0.99
R2045:Dync2h1	UTSW	9	7,160,171 (GRCm38)	missense	probably damaging	1.00
R2060:Dync2h1	UTSW	9	7,162,802 (GRCm38)	missense	possibly damaging	0.92
R2094:Dync2h1	UTSW	9	7,148,735 (GRCm38)	missense	probably benign	0.18
R2129:Dync2h1	UTSW	9	7,175,289 (GRCm38)	missense	possibly damaging	0.94
R2130:Dync2h1	UTSW	9	7,011,253 (GRCm38)	missense	probably damaging	1.00
R2136:Dync2h1	UTSW	9	7,122,772 (GRCm38)	missense	probably damaging	0.99
R2164:Dync2h1	UTSW	9	7,124,797 (GRCm38)	missense	probably damaging	1.00
R2242:Dync2h1	UTSW	9	7,037,828 (GRCm38)	splice site	probably null
R2255:Dync2h1	UTSW	9	6,955,905 (GRCm38)	critical splice donor site	probably null
R2357:Dync2h1	UTSW	9	7,081,053 (GRCm38)	missense	probably benign	0.03
R2389:Dync2h1	UTSW	9	7,122,618 (GRCm38)	missense	possibly damaging	0.82
R2412:Dync2h1	UTSW	9	7,144,246 (GRCm38)	missense	probably benign	0.01
R2885:Dync2h1	UTSW	9	7,102,329 (GRCm38)	missense	probably damaging	1.00
R2909:Dync2h1	UTSW	9	7,049,114 (GRCm38)	missense	probably damaging	1.00
R3434:Dync2h1	UTSW	9	7,011,236 (GRCm38)	missense	probably benign
R3719:Dync2h1	UTSW	9	7,006,882 (GRCm38)	splice site	probably benign
R3723:Dync2h1	UTSW	9	7,041,658 (GRCm38)	missense	probably benign	0.17
R3800:Dync2h1	UTSW	9	7,101,525 (GRCm38)	missense	possibly damaging	0.90
R3803:Dync2h1	UTSW	9	6,935,293 (GRCm38)	missense	probably benign	0.00
R3936:Dync2h1	UTSW	9	7,001,482 (GRCm38)	missense	probably damaging	1.00
R3941:Dync2h1	UTSW	9	7,124,825 (GRCm38)	missense	probably benign
R3950:Dync2h1	UTSW	9	7,112,061 (GRCm38)	nonsense	probably null
R4004:Dync2h1	UTSW	9	7,117,404 (GRCm38)	missense	probably damaging	1.00
R4091:Dync2h1	UTSW	9	7,131,881 (GRCm38)	missense	probably benign	0.01
R4233:Dync2h1	UTSW	9	7,134,360 (GRCm38)	missense	probably benign	0.02
R4302:Dync2h1	UTSW	9	7,077,880 (GRCm38)	missense	probably benign	0.02
R4451:Dync2h1	UTSW	9	6,983,477 (GRCm38)	missense	probably benign	0.02
R4512:Dync2h1	UTSW	9	7,085,009 (GRCm38)	nonsense	probably null
R4596:Dync2h1	UTSW	9	6,992,595 (GRCm38)	missense	probably benign
R4604:Dync2h1	UTSW	9	7,140,995 (GRCm38)	missense	probably benign	0.00
R4614:Dync2h1	UTSW	9	7,011,290 (GRCm38)	missense	probably benign	0.03
R4667:Dync2h1	UTSW	9	7,051,411 (GRCm38)	missense	probably benign	0.00
R4671:Dync2h1	UTSW	9	7,169,640 (GRCm38)	missense	possibly damaging	0.82
R4714:Dync2h1	UTSW	9	7,118,932 (GRCm38)	missense	possibly damaging	0.86
R4716:Dync2h1	UTSW	9	7,142,648 (GRCm38)	critical splice donor site	probably null
R4736:Dync2h1	UTSW	9	7,006,862 (GRCm38)	missense	probably benign	0.00
R4807:Dync2h1	UTSW	9	7,139,422 (GRCm38)	missense	probably benign	0.31
R4850:Dync2h1	UTSW	9	7,134,364 (GRCm38)	missense	probably benign	0.14
R4862:Dync2h1	UTSW	9	7,147,717 (GRCm38)	missense	probably benign
R4899:Dync2h1	UTSW	9	7,131,921 (GRCm38)	nonsense	probably null
R4971:Dync2h1	UTSW	9	7,131,949 (GRCm38)	missense	probably benign
R5040:Dync2h1	UTSW	9	6,992,625 (GRCm38)	missense	probably benign	0.09
R5054:Dync2h1	UTSW	9	7,085,007 (GRCm38)	missense	possibly damaging	0.63
R5274:Dync2h1	UTSW	9	7,116,540 (GRCm38)	missense	probably benign	0.00
R5307:Dync2h1	UTSW	9	7,155,099 (GRCm38)	missense	probably damaging	1.00
R5347:Dync2h1	UTSW	9	7,129,727 (GRCm38)	missense	probably damaging	1.00
R5372:Dync2h1	UTSW	9	7,176,962 (GRCm38)	unclassified	probably benign
R5384:Dync2h1	UTSW	9	7,016,791 (GRCm38)	missense	probably damaging	0.99
R5385:Dync2h1	UTSW	9	7,016,791 (GRCm38)	missense	probably damaging	0.99
R5394:Dync2h1	UTSW	9	7,120,899 (GRCm38)	nonsense	probably null
R5402:Dync2h1	UTSW	9	7,114,949 (GRCm38)	missense	probably damaging	1.00
R5446:Dync2h1	UTSW	9	7,144,217 (GRCm38)	missense	probably benign
R5538:Dync2h1	UTSW	9	7,168,630 (GRCm38)	intron	probably benign
R5551:Dync2h1	UTSW	9	7,031,718 (GRCm38)	missense	possibly damaging	0.74
R5619:Dync2h1	UTSW	9	7,118,885 (GRCm38)	missense	probably benign	0.02
R5621:Dync2h1	UTSW	9	7,120,909 (GRCm38)	missense	possibly damaging	0.86
R5652:Dync2h1	UTSW	9	7,116,638 (GRCm38)	missense	probably benign	0.45
R5655:Dync2h1	UTSW	9	7,148,659 (GRCm38)	missense	probably benign	0.01
R5689:Dync2h1	UTSW	9	7,169,689 (GRCm38)	missense	probably damaging	1.00
R5725:Dync2h1	UTSW	9	7,169,528 (GRCm38)	missense	probably benign	0.21
R5742:Dync2h1	UTSW	9	7,165,762 (GRCm38)	missense	possibly damaging	0.64
R5817:Dync2h1	UTSW	9	6,996,905 (GRCm38)	missense	probably damaging	1.00
R5852:Dync2h1	UTSW	9	7,011,290 (GRCm38)	missense	probably benign	0.03
R5898:Dync2h1	UTSW	9	7,148,717 (GRCm38)	missense	probably benign	0.00
R5916:Dync2h1	UTSW	9	7,102,309 (GRCm38)	critical splice donor site	probably null
R5939:Dync2h1	UTSW	9	7,037,801 (GRCm38)	missense	probably damaging	0.99
R5942:Dync2h1	UTSW	9	7,117,466 (GRCm38)	nonsense	probably null
R5982:Dync2h1	UTSW	9	6,955,986 (GRCm38)	missense	probably benign	0.00
R6029:Dync2h1	UTSW	9	7,157,646 (GRCm38)	missense	probably benign
R6125:Dync2h1	UTSW	9	7,168,706 (GRCm38)	missense	probably damaging	1.00
R6209:Dync2h1	UTSW	9	7,165,677 (GRCm38)	missense	probably benign	0.01
R6247:Dync2h1	UTSW	9	7,135,078 (GRCm38)	missense	probably damaging	1.00
R6294:Dync2h1	UTSW	9	7,084,986 (GRCm38)	missense	probably benign	0.01
R6328:Dync2h1	UTSW	9	7,165,717 (GRCm38)	missense	probably benign	0.00
R6376:Dync2h1	UTSW	9	7,165,703 (GRCm38)	missense	probably benign	0.21
R6394:Dync2h1	UTSW	9	7,168,331 (GRCm38)	missense	probably damaging	0.99
R6539:Dync2h1	UTSW	9	7,159,478 (GRCm38)	splice site	probably null
R6554:Dync2h1	UTSW	9	7,037,699 (GRCm38)	missense	probably benign	0.39
R6559:Dync2h1	UTSW	9	7,139,501 (GRCm38)	missense	possibly damaging	0.72
R6563:Dync2h1	UTSW	9	7,120,819 (GRCm38)	missense	probably benign	0.27
R6807:Dync2h1	UTSW	9	7,041,718 (GRCm38)	missense	probably benign	0.10
R6848:Dync2h1	UTSW	9	7,159,632 (GRCm38)	missense	probably benign	0.22
R6901:Dync2h1	UTSW	9	7,131,855 (GRCm38)	missense	probably damaging	1.00
R6921:Dync2h1	UTSW	9	7,102,549 (GRCm38)	missense	probably benign
R6997:Dync2h1	UTSW	9	7,168,743 (GRCm38)	missense	probably null	0.00
R7084:Dync2h1	UTSW	9	7,113,214 (GRCm38)	missense	possibly damaging	0.72
R7113:Dync2h1	UTSW	9	7,075,788 (GRCm38)	missense	probably benign	0.03
R7131:Dync2h1	UTSW	9	7,075,786 (GRCm38)	missense	probably damaging	1.00
R7165:Dync2h1	UTSW	9	7,050,479 (GRCm38)	missense	probably benign
R7196:Dync2h1	UTSW	9	7,147,715 (GRCm38)	nonsense	probably null
R7208:Dync2h1	UTSW	9	7,141,059 (GRCm38)	missense	probably damaging	1.00
R7225:Dync2h1	UTSW	9	7,142,756 (GRCm38)	missense	probably benign
R7237:Dync2h1	UTSW	9	6,993,966 (GRCm38)	missense	probably benign	0.00
R7243:Dync2h1	UTSW	9	7,102,405 (GRCm38)	missense	possibly damaging	0.64
R7291:Dync2h1	UTSW	9	6,929,590 (GRCm38)	missense	possibly damaging	0.69
R7293:Dync2h1	UTSW	9	7,001,454 (GRCm38)	missense	possibly damaging	0.88
R7329:Dync2h1	UTSW	9	7,011,247 (GRCm38)	missense	probably benign
R7351:Dync2h1	UTSW	9	7,167,145 (GRCm38)	missense	probably damaging	1.00
R7358:Dync2h1	UTSW	9	7,159,479 (GRCm38)	critical splice donor site	probably null
R7387:Dync2h1	UTSW	9	7,157,932 (GRCm38)	missense	possibly damaging	0.68
R7446:Dync2h1	UTSW	9	7,041,720 (GRCm38)	missense	probably benign	0.03
R7487:Dync2h1	UTSW	9	7,132,041 (GRCm38)	missense	probably benign	0.26
R7488:Dync2h1	UTSW	9	7,124,855 (GRCm38)	missense	probably benign	0.03
R7496:Dync2h1	UTSW	9	7,135,015 (GRCm38)	splice site	probably null
R7501:Dync2h1	UTSW	9	7,175,336 (GRCm38)	missense	possibly damaging	0.82
R7571:Dync2h1	UTSW	9	7,002,623 (GRCm38)	missense	probably damaging	1.00
R7627:Dync2h1	UTSW	9	7,101,111 (GRCm38)	missense	probably benign	0.00
R7639:Dync2h1	UTSW	9	7,141,254 (GRCm38)	missense	probably damaging	0.97
R7653:Dync2h1	UTSW	9	7,117,570 (GRCm38)	missense	probably benign
R7654:Dync2h1	UTSW	9	7,122,664 (GRCm38)	missense	probably damaging	1.00
R7742:Dync2h1	UTSW	9	7,076,232 (GRCm38)	missense	probably benign	0.00
R7755:Dync2h1	UTSW	9	7,015,490 (GRCm38)	missense	probably benign	0.00
R7762:Dync2h1	UTSW	9	7,129,719 (GRCm38)	missense	probably benign	0.01
R7790:Dync2h1	UTSW	9	7,114,914 (GRCm38)	missense	probably damaging	0.96
R7834:Dync2h1	UTSW	9	7,118,953 (GRCm38)	missense	probably benign	0.04
R7883:Dync2h1	UTSW	9	7,005,566 (GRCm38)	missense	possibly damaging	0.80
R7952:Dync2h1	UTSW	9	7,129,802 (GRCm38)	missense	possibly damaging	0.63
R8111:Dync2h1	UTSW	9	7,148,688 (GRCm38)	missense	probably benign	0.03
R8157:Dync2h1	UTSW	9	7,001,473 (GRCm38)	missense	possibly damaging	0.47
R8166:Dync2h1	UTSW	9	7,129,089 (GRCm38)	nonsense	probably null
R8236:Dync2h1	UTSW	9	7,080,363 (GRCm38)	intron	probably benign
R8326:Dync2h1	UTSW	9	7,147,771 (GRCm38)	missense	probably benign
R8335:Dync2h1	UTSW	9	7,084,941 (GRCm38)	missense	probably benign	0.28
R8347:Dync2h1	UTSW	9	7,116,578 (GRCm38)	missense	possibly damaging	0.81
R8372:Dync2h1	UTSW	9	7,111,514 (GRCm38)	missense	possibly damaging	0.90
R8421:Dync2h1	UTSW	9	7,102,477 (GRCm38)	missense	probably damaging	1.00
R8518:Dync2h1	UTSW	9	7,051,452 (GRCm38)	missense	probably benign	0.04
R8556:Dync2h1	UTSW	9	7,113,198 (GRCm38)	missense	probably benign	0.32
R8690:Dync2h1	UTSW	9	7,075,824 (GRCm38)	missense	probably damaging	1.00
R8713:Dync2h1	UTSW	9	7,141,008 (GRCm38)	nonsense	probably null
R8719:Dync2h1	UTSW	9	7,041,641 (GRCm38)	missense	probably benign	0.05
R8732:Dync2h1	UTSW	9	7,168,326 (GRCm38)	missense	probably damaging	1.00
R8744:Dync2h1	UTSW	9	7,011,220 (GRCm38)	nonsense	probably null
R8749:Dync2h1	UTSW	9	7,035,063 (GRCm38)	missense	probably benign	0.32
R8795:Dync2h1	UTSW	9	7,137,087 (GRCm38)	missense	probably benign	0.00
R8853:Dync2h1	UTSW	9	7,117,645 (GRCm38)	missense	possibly damaging	0.94
R8923:Dync2h1	UTSW	9	7,168,515 (GRCm38)	missense	probably benign
R8969:Dync2h1	UTSW	9	7,130,723 (GRCm38)	missense	probably damaging	1.00
R8997:Dync2h1	UTSW	9	7,129,003 (GRCm38)	missense	probably benign
R9025:Dync2h1	UTSW	9	7,139,462 (GRCm38)	nonsense	probably null
R9036:Dync2h1	UTSW	9	7,051,495 (GRCm38)	missense	probably damaging	1.00
R9055:Dync2h1	UTSW	9	6,996,641 (GRCm38)	intron	probably benign
R9165:Dync2h1	UTSW	9	7,114,883 (GRCm38)	missense	probably damaging	0.99
R9172:Dync2h1	UTSW	9	7,031,771 (GRCm38)	missense	probably damaging	1.00
R9286:Dync2h1	UTSW	9	6,941,668 (GRCm38)	missense	probably benign	0.01
R9312:Dync2h1	UTSW	9	7,050,413 (GRCm38)	missense	probably damaging	1.00
R9335:Dync2h1	UTSW	9	7,112,149 (GRCm38)	missense	possibly damaging	0.88
R9344:Dync2h1	UTSW	9	7,148,659 (GRCm38)	missense	probably benign	0.01
R9351:Dync2h1	UTSW	9	7,176,911 (GRCm38)	missense	probably damaging	0.98
R9367:Dync2h1	UTSW	9	7,125,730 (GRCm38)	critical splice donor site	probably null
R9613:Dync2h1	UTSW	9	7,075,769 (GRCm38)	missense	probably damaging	0.99
R9650:Dync2h1	UTSW	9	7,174,849 (GRCm38)	missense	possibly damaging	0.83
R9726:Dync2h1	UTSW	9	7,077,999 (GRCm38)	missense	possibly damaging	0.94
R9731:Dync2h1	UTSW	9	7,141,166 (GRCm38)	missense	probably benign
X0009:Dync2h1	UTSW	9	7,117,576 (GRCm38)	missense	possibly damaging	0.81
Z1176:Dync2h1	UTSW	9	7,168,730 (GRCm38)	frame shift	probably null
Z1176:Dync2h1	UTSW	9	7,142,361 (GRCm38)	missense	probably damaging	0.99
Z1177:Dync2h1	UTSW	9	7,102,427 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- CCTGAATGTTTCACTTCCACAG -3'
(R):5'- GTCTTGATTGTCTTTGAAAGCTACC -3'

Sequencing Primer
(F):5'- CTGCAAGTTTCTCCTGGT -3'
(R):5'- GCCTATATGTAGGGATGCATAAAAAC -3'

Posted On

2021-10-11