Mutagenetix > Incidental Mutation

Incidental Mutation 'R6209:Dync2h1'

503339

Institutional Source

Beutler Lab

Gene Symbol

Dync2h1

Ensembl Gene

ENSMUSG00000047193

Gene Name

dynein cytoplasmic 2 heavy chain 1

Synonyms

DHC1b, b2b414Clo, Dnchc2, m407Asp, m152Asp, D030010H02Rik, 4432416O06Rik, DHC2, D330044F14Rik

MMRRC Submission

044343-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6209 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

6928550-7177619 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 7165677 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 528 (K528R)

Ref Sequence

ENSEMBL: ENSMUSP00000120322 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000048417] [ENSMUST00000139115] [ENSMUST00000140466] [ENSMUST00000147193]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000048417
AA Change: K528R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000046733
Gene: ENSMUSG00000047193
AA Change: K528R

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: ENSMUST00000139115
AA Change: K528R

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000120322
Gene: ENSMUSG00000047193
AA Change: K528R

Domain	Start	End	E-Value	Type
Pfam:DHC_N1	188	676	3.2e-45	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000140466
AA Change: K528R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000120007
Gene: ENSMUSG00000047193
AA Change: K528R

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

noncoding transcript
Transcript: ENSMUST00000147056

Predicted Effect

probably benign
Transcript: ENSMUST00000147193
AA Change: K528R

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)

SMART Domains

Protein: ENSMUSP00000116679
Gene: ENSMUSG00000047193
AA Change: K528R

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: 99.6%
20x: 98.6%

Validation Efficiency

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: 79 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aff3	T	A	1: 38,232,670 (GRCm39)	M990L	probably benign	Het
Agl	A	T	3: 116,578,845 (GRCm39)	Y429*	probably null	Het
Ahnak	A	T	19: 8,989,930 (GRCm39)	K3738M	probably damaging	Het
Amn	G	T	12: 111,241,845 (GRCm39)	V304L	probably damaging	Het
Ap3s1	G	A	18: 46,912,318 (GRCm39)	V113I	probably benign	Het
Arhgef28	A	T	13: 98,065,917 (GRCm39)		probably null	Het
Atad2	A	G	15: 57,981,811 (GRCm39)	S18P	probably damaging	Het
Bhmt1b	C	T	18: 87,775,341 (GRCm39)	A288V	probably damaging	Het
C4b	T	A	17: 34,960,061 (GRCm39)	E305V	possibly damaging	Het
Caskin1	T	C	17: 24,726,095 (GRCm39)	S1401P	possibly damaging	Het
Cblc	A	T	7: 19,519,230 (GRCm39)	V366D	possibly damaging	Het
Cdk17	A	T	10: 93,044,093 (GRCm39)	T11S	probably benign	Het
Cenpc1	A	G	5: 86,181,509 (GRCm39)	S619P	probably benign	Het
Clec4d	T	G	6: 123,247,488 (GRCm39)		probably null	Het
Disp2	T	C	2: 118,617,402 (GRCm39)	L132P	probably damaging	Het
Fbxw26	A	G	9: 109,547,033 (GRCm39)	I464T	possibly damaging	Het
Gaa	C	A	11: 119,171,997 (GRCm39)	A700D	probably benign	Het
Gabbr2	A	G	4: 46,804,069 (GRCm39)	V262A	probably damaging	Het
Galnt17	T	A	5: 131,110,434 (GRCm39)	M302L	probably benign	Het
Gpn3	T	C	5: 122,520,175 (GRCm39)	I243T	probably benign	Het
Gpr160	T	C	3: 30,950,141 (GRCm39)	V71A	possibly damaging	Het
Gramd1b	G	T	9: 40,244,946 (GRCm39)	A154D	probably damaging	Het
Grid2ip	G	A	5: 143,366,184 (GRCm39)	S379N	probably damaging	Het
H60b	C	A	10: 22,163,043 (GRCm39)	T206N	probably benign	Het
Hydin	A	T	8: 111,320,434 (GRCm39)	I4493F	probably benign	Het
Il19	C	T	1: 130,866,852 (GRCm39)	E43K	possibly damaging	Het
Ints2	A	G	11: 86,115,884 (GRCm39)	Y782H	probably damaging	Het
Itprid1	T	A	6: 55,851,306 (GRCm39)	I62N	probably damaging	Het
Jph1	C	A	1: 17,167,810 (GRCm39)	D7Y	probably damaging	Het
Lipo2	T	C	19: 33,726,852 (GRCm39)	I62V	probably damaging	Het
Map7	G	A	10: 20,152,026 (GRCm39)		probably null	Het
Matk	T	G	10: 81,095,422 (GRCm39)	W81G	probably damaging	Het
Matn4	T	C	2: 164,242,735 (GRCm39)	Y121C	probably damaging	Het
Mical2	G	A	7: 111,923,293 (GRCm39)		probably null	Het
Miga2	T	G	2: 30,271,674 (GRCm39)	Y399D	probably damaging	Het
Mocos	A	T	18: 24,799,672 (GRCm39)	E302V	probably benign	Het
Mrpl11	C	T	19: 5,014,743 (GRCm39)	A172V	probably damaging	Het
Mrpl48	A	C	7: 100,209,001 (GRCm39)	Y108D	probably damaging	Het
Mtr	A	G	13: 12,205,278 (GRCm39)	S1061P	probably benign	Het
Myh11	T	A	16: 14,026,155 (GRCm39)	K1309*	probably null	Het
Myom2	G	A	8: 15,154,173 (GRCm39)	V704I	possibly damaging	Het
Nars2	A	G	7: 96,706,728 (GRCm39)	H413R	probably benign	Het
Nckap1	A	G	2: 80,355,946 (GRCm39)	L619P	probably damaging	Het
Notch1	T	C	2: 26,362,817 (GRCm39)	N983S	probably damaging	Het
Nup210	A	G	6: 91,002,337 (GRCm39)	V717A	probably benign	Het
P4ha3	G	T	7: 99,966,292 (GRCm39)	G479V	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phf11a	A	G	14: 59,525,028 (GRCm39)	S59P	probably damaging	Het
Phyhip	G	A	14: 70,700,798 (GRCm39)	S95N	probably benign	Het
Ppat	A	G	5: 77,065,993 (GRCm39)	V375A	probably benign	Het
Prkdc	A	G	16: 15,608,456 (GRCm39)	E3086G	probably damaging	Het
Psg22	A	G	7: 18,453,599 (GRCm39)	E98G	probably damaging	Het
Rabgap1	A	T	2: 37,453,610 (GRCm39)	K1013*	probably null	Het
Retreg3	C	T	11: 101,010,526 (GRCm39)	G27D	probably benign	Het
Rnd2	C	T	11: 101,359,825 (GRCm39)	L57F	probably damaging	Het
Rptn	C	G	3: 93,305,437 (GRCm39)	H923Q	possibly damaging	Het
Sema6a	A	T	18: 47,431,369 (GRCm39)		probably null	Het
Septin10	T	C	10: 59,006,670 (GRCm39)	E349G	probably damaging	Het
Serpina1c	A	G	12: 103,863,429 (GRCm39)	V257A	probably damaging	Het
Sgpp2	T	A	1: 78,367,119 (GRCm39)	M84K	probably damaging	Het
Shoc1	A	G	4: 59,043,869 (GRCm39)	*1482R	probably null	Het
Skint11	A	G	4: 114,101,907 (GRCm39)	S116G	possibly damaging	Het
Slc2a5	G	A	4: 150,227,557 (GRCm39)	V459I	probably benign	Het
Smarca2	T	G	19: 26,748,404 (GRCm39)	Y126*	probably null	Het
Stab2	T	G	10: 86,758,867 (GRCm39)	N1024H	possibly damaging	Het
Sting1	A	T	18: 35,869,155 (GRCm39)	I178N	probably damaging	Het
Svep1	A	C	4: 58,128,869 (GRCm39)	F609L	probably benign	Het
Tbc1d2	G	A	4: 46,614,068 (GRCm39)	T671I	probably damaging	Het
Thoc5	T	C	11: 4,855,697 (GRCm39)	I82T	probably damaging	Het
Tmem213	G	T	6: 38,092,517 (GRCm39)	C83F	probably damaging	Het
Topaz1	G	A	9: 122,579,570 (GRCm39)	D827N	possibly damaging	Het
Trappc10	C	A	10: 78,050,646 (GRCm39)	G265V	possibly damaging	Het
Ttn	A	G	2: 76,539,808 (GRCm39)	S26066P	probably damaging	Het
Zfp292	G	T	4: 34,809,442 (GRCm39)	Q1201K	probably benign	Het
Zfp354a	T	A	11: 50,951,815 (GRCm39)		probably null	Het
Zfp418	T	C	7: 7,185,096 (GRCm39)	V353A	possibly damaging	Het
Zfp444	G	A	7: 6,192,948 (GRCm39)		probably benign	Het
Zfp503	C	A	14: 22,035,778 (GRCm39)	Q379H	probably damaging	Het
Zfp804a	A	G	2: 82,088,462 (GRCm39)	K764E	probably damaging	Het

Other mutations in Dync2h1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00159:Dync2h1	APN	9	7,158,839 (GRCm39)	missense	probably benign	0.42
IGL00310:Dync2h1	APN	9	7,155,072 (GRCm39)	splice site	probably benign
IGL00499:Dync2h1	APN	9	7,168,700 (GRCm39)	missense	possibly damaging	0.95
IGL00579:Dync2h1	APN	9	7,035,728 (GRCm39)	splice site	probably benign
IGL00660:Dync2h1	APN	9	7,075,797 (GRCm39)	missense	probably damaging	0.98
IGL00964:Dync2h1	APN	9	7,174,881 (GRCm39)	splice site	probably benign
IGL01025:Dync2h1	APN	9	7,162,789 (GRCm39)	missense	probably damaging	1.00
IGL01093:Dync2h1	APN	9	7,145,611 (GRCm39)	missense	probably benign	0.01
IGL01108:Dync2h1	APN	9	7,176,771 (GRCm39)	missense	possibly damaging	0.87
IGL01126:Dync2h1	APN	9	7,116,588 (GRCm39)	missense	probably benign	0.00
IGL01474:Dync2h1	APN	9	7,102,493 (GRCm39)	missense	probably benign	0.01
IGL01531:Dync2h1	APN	9	7,071,111 (GRCm39)	missense	probably benign	0.11
IGL01548:Dync2h1	APN	9	7,071,922 (GRCm39)	missense	probably damaging	1.00
IGL01621:Dync2h1	APN	9	7,140,897 (GRCm39)	critical splice donor site	probably null
IGL01672:Dync2h1	APN	9	7,118,884 (GRCm39)	nonsense	probably null
IGL01681:Dync2h1	APN	9	7,142,196 (GRCm39)	splice site	probably null
IGL01685:Dync2h1	APN	9	7,142,297 (GRCm39)	missense	probably damaging	1.00
IGL01724:Dync2h1	APN	9	7,081,077 (GRCm39)	missense	probably benign	0.03
IGL01738:Dync2h1	APN	9	7,114,922 (GRCm39)	missense	possibly damaging	0.77
IGL01783:Dync2h1	APN	9	7,118,822 (GRCm39)	unclassified	probably benign
IGL01813:Dync2h1	APN	9	7,122,799 (GRCm39)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,114,973 (GRCm39)	missense	probably damaging	1.00
IGL01931:Dync2h1	APN	9	7,011,207 (GRCm39)	missense	probably benign	0.33
IGL02105:Dync2h1	APN	9	7,075,892 (GRCm39)	missense	probably damaging	1.00
IGL02137:Dync2h1	APN	9	7,134,349 (GRCm39)	missense	probably benign
IGL02140:Dync2h1	APN	9	7,147,791 (GRCm39)	missense	probably benign
IGL02175:Dync2h1	APN	9	7,111,548 (GRCm39)	missense	possibly damaging	0.91
IGL02283:Dync2h1	APN	9	7,125,912 (GRCm39)	missense	probably damaging	0.99
IGL02305:Dync2h1	APN	9	7,122,678 (GRCm39)	missense	probably benign
IGL02342:Dync2h1	APN	9	7,142,246 (GRCm39)	missense	probably damaging	1.00
IGL02367:Dync2h1	APN	9	7,158,926 (GRCm39)	missense	probably damaging	0.98
IGL02458:Dync2h1	APN	9	7,117,422 (GRCm39)	missense	probably damaging	1.00
IGL02563:Dync2h1	APN	9	7,035,700 (GRCm39)	missense	possibly damaging	0.95
IGL02825:Dync2h1	APN	9	6,955,901 (GRCm39)	splice site	probably benign
IGL02955:Dync2h1	APN	9	7,142,864 (GRCm39)	missense	probably benign	0.00
IGL02992:Dync2h1	APN	9	7,137,074 (GRCm39)	missense	probably benign	0.01
IGL02996:Dync2h1	APN	9	6,935,279 (GRCm39)	missense	probably damaging	0.99
IGL03224:Dync2h1	APN	9	7,076,235 (GRCm39)	missense	probably benign	0.32
IGL03226:Dync2h1	APN	9	7,125,918 (GRCm39)	missense	probably benign
IGL03233:Dync2h1	APN	9	7,101,525 (GRCm39)	missense	possibly damaging	0.90
deinonychus	UTSW	9	7,159,478 (GRCm39)	splice site	probably null
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm39)	splice site	probably benign
R0016:Dync2h1	UTSW	9	7,144,346 (GRCm39)	splice site	probably benign
R0043:Dync2h1	UTSW	9	7,005,574 (GRCm39)	missense	probably benign	0.05
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm39)	missense	probably damaging	1.00
R0109:Dync2h1	UTSW	9	7,111,487 (GRCm39)	missense	probably damaging	1.00
R0121:Dync2h1	UTSW	9	7,001,327 (GRCm39)	splice site	probably benign
R0277:Dync2h1	UTSW	9	7,129,046 (GRCm39)	missense	probably benign
R0360:Dync2h1	UTSW	9	7,113,182 (GRCm39)	missense	possibly damaging	0.62
R0362:Dync2h1	UTSW	9	7,005,487 (GRCm39)	splice site	probably null
R0389:Dync2h1	UTSW	9	7,167,244 (GRCm39)	splice site	probably null
R0443:Dync2h1	UTSW	9	7,167,244 (GRCm39)	splice site	probably null
R0496:Dync2h1	UTSW	9	7,155,180 (GRCm39)	missense	probably benign	0.42
R0506:Dync2h1	UTSW	9	7,113,153 (GRCm39)	missense	probably benign	0.05
R0511:Dync2h1	UTSW	9	7,122,692 (GRCm39)	missense	probably benign	0.00
R0540:Dync2h1	UTSW	9	7,051,480 (GRCm39)	missense	probably benign	0.00
R0550:Dync2h1	UTSW	9	7,120,954 (GRCm39)	splice site	probably null
R0564:Dync2h1	UTSW	9	7,139,432 (GRCm39)	missense	probably damaging	1.00
R0607:Dync2h1	UTSW	9	7,051,480 (GRCm39)	missense	probably benign	0.00
R0699:Dync2h1	UTSW	9	7,103,680 (GRCm39)	missense	probably benign	0.00
R0725:Dync2h1	UTSW	9	7,015,497 (GRCm39)	missense	possibly damaging	0.93
R0835:Dync2h1	UTSW	9	7,116,642 (GRCm39)	critical splice acceptor site	probably null
R0837:Dync2h1	UTSW	9	7,077,979 (GRCm39)	missense	probably benign	0.07
R0894:Dync2h1	UTSW	9	7,041,734 (GRCm39)	splice site	probably benign
R0938:Dync2h1	UTSW	9	7,002,658 (GRCm39)	missense	probably benign	0.02
R1056:Dync2h1	UTSW	9	7,147,731 (GRCm39)	missense	probably benign	0.15
R1081:Dync2h1	UTSW	9	7,005,488 (GRCm39)	critical splice donor site	probably null
R1178:Dync2h1	UTSW	9	7,101,193 (GRCm39)	splice site	probably benign
R1243:Dync2h1	UTSW	9	7,120,882 (GRCm39)	missense	probably benign
R1295:Dync2h1	UTSW	9	7,075,752 (GRCm39)	splice site	probably benign
R1304:Dync2h1	UTSW	9	7,102,318 (GRCm39)	missense	probably damaging	1.00
R1387:Dync2h1	UTSW	9	7,125,816 (GRCm39)	missense	probably benign
R1513:Dync2h1	UTSW	9	7,103,663 (GRCm39)	missense	possibly damaging	0.74
R1557:Dync2h1	UTSW	9	7,140,911 (GRCm39)	missense	probably damaging	1.00
R1568:Dync2h1	UTSW	9	7,157,553 (GRCm39)	missense	probably null	0.02
R1570:Dync2h1	UTSW	9	7,176,926 (GRCm39)	missense	probably benign	0.12
R1670:Dync2h1	UTSW	9	6,993,942 (GRCm39)	missense	possibly damaging	0.82
R1713:Dync2h1	UTSW	9	7,131,891 (GRCm39)	missense	probably benign
R1766:Dync2h1	UTSW	9	7,015,526 (GRCm39)	critical splice acceptor site	probably null
R1773:Dync2h1	UTSW	9	7,128,256 (GRCm39)	missense	probably damaging	1.00
R1786:Dync2h1	UTSW	9	7,081,084 (GRCm39)	missense	probably damaging	1.00
R1848:Dync2h1	UTSW	9	7,049,166 (GRCm39)	missense	probably benign	0.01
R1850:Dync2h1	UTSW	9	7,001,448 (GRCm39)	missense	probably benign	0.00
R1935:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1936:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1937:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1939:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1940:Dync2h1	UTSW	9	7,139,159 (GRCm39)	critical splice donor site	probably null
R1944:Dync2h1	UTSW	9	7,001,377 (GRCm39)	missense	probably damaging	1.00
R1976:Dync2h1	UTSW	9	7,129,045 (GRCm39)	missense	probably benign
R2012:Dync2h1	UTSW	9	7,169,589 (GRCm39)	missense	probably benign	0.00
R2020:Dync2h1	UTSW	9	7,162,925 (GRCm39)	missense	probably benign	0.25
R2020:Dync2h1	UTSW	9	7,122,772 (GRCm39)	missense	probably damaging	0.99
R2024:Dync2h1	UTSW	9	7,129,062 (GRCm39)	missense	probably damaging	0.97
R2038:Dync2h1	UTSW	9	6,967,226 (GRCm39)	missense	probably damaging	0.99
R2045:Dync2h1	UTSW	9	7,160,171 (GRCm39)	missense	probably damaging	1.00
R2060:Dync2h1	UTSW	9	7,162,802 (GRCm39)	missense	possibly damaging	0.92
R2094:Dync2h1	UTSW	9	7,148,735 (GRCm39)	missense	probably benign	0.18
R2129:Dync2h1	UTSW	9	7,175,289 (GRCm39)	missense	possibly damaging	0.94
R2130:Dync2h1	UTSW	9	7,011,253 (GRCm39)	missense	probably damaging	1.00
R2136:Dync2h1	UTSW	9	7,122,772 (GRCm39)	missense	probably damaging	0.99
R2164:Dync2h1	UTSW	9	7,124,797 (GRCm39)	missense	probably damaging	1.00
R2242:Dync2h1	UTSW	9	7,037,828 (GRCm39)	splice site	probably null
R2255:Dync2h1	UTSW	9	6,955,905 (GRCm39)	critical splice donor site	probably null
R2357:Dync2h1	UTSW	9	7,081,053 (GRCm39)	missense	probably benign	0.03
R2389:Dync2h1	UTSW	9	7,122,618 (GRCm39)	missense	possibly damaging	0.82
R2412:Dync2h1	UTSW	9	7,144,246 (GRCm39)	missense	probably benign	0.01
R2885:Dync2h1	UTSW	9	7,102,329 (GRCm39)	missense	probably damaging	1.00
R2909:Dync2h1	UTSW	9	7,049,114 (GRCm39)	missense	probably damaging	1.00
R3434:Dync2h1	UTSW	9	7,011,236 (GRCm39)	missense	probably benign
R3719:Dync2h1	UTSW	9	7,006,882 (GRCm39)	splice site	probably benign
R3723:Dync2h1	UTSW	9	7,041,658 (GRCm39)	missense	probably benign	0.17
R3800:Dync2h1	UTSW	9	7,101,525 (GRCm39)	missense	possibly damaging	0.90
R3803:Dync2h1	UTSW	9	6,935,293 (GRCm39)	missense	probably benign	0.00
R3936:Dync2h1	UTSW	9	7,001,482 (GRCm39)	missense	probably damaging	1.00
R3941:Dync2h1	UTSW	9	7,124,825 (GRCm39)	missense	probably benign
R3950:Dync2h1	UTSW	9	7,112,061 (GRCm39)	nonsense	probably null
R4004:Dync2h1	UTSW	9	7,117,404 (GRCm39)	missense	probably damaging	1.00
R4091:Dync2h1	UTSW	9	7,131,881 (GRCm39)	missense	probably benign	0.01
R4233:Dync2h1	UTSW	9	7,134,360 (GRCm39)	missense	probably benign	0.02
R4302:Dync2h1	UTSW	9	7,077,880 (GRCm39)	missense	probably benign	0.02
R4451:Dync2h1	UTSW	9	6,983,477 (GRCm39)	missense	probably benign	0.02
R4512:Dync2h1	UTSW	9	7,085,009 (GRCm39)	nonsense	probably null
R4596:Dync2h1	UTSW	9	6,992,595 (GRCm39)	missense	probably benign
R4604:Dync2h1	UTSW	9	7,140,995 (GRCm39)	missense	probably benign	0.00
R4614:Dync2h1	UTSW	9	7,011,290 (GRCm39)	missense	probably benign	0.03
R4667:Dync2h1	UTSW	9	7,051,411 (GRCm39)	missense	probably benign	0.00
R4671:Dync2h1	UTSW	9	7,169,640 (GRCm39)	missense	possibly damaging	0.82
R4714:Dync2h1	UTSW	9	7,118,932 (GRCm39)	missense	possibly damaging	0.86
R4716:Dync2h1	UTSW	9	7,142,648 (GRCm39)	critical splice donor site	probably null
R4736:Dync2h1	UTSW	9	7,006,862 (GRCm39)	missense	probably benign	0.00
R4807:Dync2h1	UTSW	9	7,139,422 (GRCm39)	missense	probably benign	0.31
R4850:Dync2h1	UTSW	9	7,134,364 (GRCm39)	missense	probably benign	0.14
R4862:Dync2h1	UTSW	9	7,147,717 (GRCm39)	missense	probably benign
R4899:Dync2h1	UTSW	9	7,131,921 (GRCm39)	nonsense	probably null
R4971:Dync2h1	UTSW	9	7,131,949 (GRCm39)	missense	probably benign
R5040:Dync2h1	UTSW	9	6,992,625 (GRCm39)	missense	probably benign	0.09
R5054:Dync2h1	UTSW	9	7,085,007 (GRCm39)	missense	possibly damaging	0.63
R5274:Dync2h1	UTSW	9	7,116,540 (GRCm39)	missense	probably benign	0.00
R5307:Dync2h1	UTSW	9	7,155,099 (GRCm39)	missense	probably damaging	1.00
R5347:Dync2h1	UTSW	9	7,129,727 (GRCm39)	missense	probably damaging	1.00
R5372:Dync2h1	UTSW	9	7,176,962 (GRCm39)	unclassified	probably benign
R5384:Dync2h1	UTSW	9	7,016,791 (GRCm39)	missense	probably damaging	0.99
R5385:Dync2h1	UTSW	9	7,016,791 (GRCm39)	missense	probably damaging	0.99
R5394:Dync2h1	UTSW	9	7,120,899 (GRCm39)	nonsense	probably null
R5402:Dync2h1	UTSW	9	7,114,949 (GRCm39)	missense	probably damaging	1.00
R5446:Dync2h1	UTSW	9	7,144,217 (GRCm39)	missense	probably benign
R5538:Dync2h1	UTSW	9	7,168,630 (GRCm39)	intron	probably benign
R5551:Dync2h1	UTSW	9	7,031,718 (GRCm39)	missense	possibly damaging	0.74
R5619:Dync2h1	UTSW	9	7,118,885 (GRCm39)	missense	probably benign	0.02
R5621:Dync2h1	UTSW	9	7,120,909 (GRCm39)	missense	possibly damaging	0.86
R5652:Dync2h1	UTSW	9	7,116,638 (GRCm39)	missense	probably benign	0.45
R5655:Dync2h1	UTSW	9	7,148,659 (GRCm39)	missense	probably benign	0.01
R5689:Dync2h1	UTSW	9	7,169,689 (GRCm39)	missense	probably damaging	1.00
R5725:Dync2h1	UTSW	9	7,169,528 (GRCm39)	missense	probably benign	0.21
R5742:Dync2h1	UTSW	9	7,165,762 (GRCm39)	missense	possibly damaging	0.64
R5817:Dync2h1	UTSW	9	6,996,905 (GRCm39)	missense	probably damaging	1.00
R5852:Dync2h1	UTSW	9	7,011,290 (GRCm39)	missense	probably benign	0.03
R5898:Dync2h1	UTSW	9	7,148,717 (GRCm39)	missense	probably benign	0.00
R5916:Dync2h1	UTSW	9	7,102,309 (GRCm39)	critical splice donor site	probably null
R5939:Dync2h1	UTSW	9	7,037,801 (GRCm39)	missense	probably damaging	0.99
R5942:Dync2h1	UTSW	9	7,117,466 (GRCm39)	nonsense	probably null
R5982:Dync2h1	UTSW	9	6,955,986 (GRCm39)	missense	probably benign	0.00
R6029:Dync2h1	UTSW	9	7,157,646 (GRCm39)	missense	probably benign
R6125:Dync2h1	UTSW	9	7,168,706 (GRCm39)	missense	probably damaging	1.00
R6247:Dync2h1	UTSW	9	7,135,078 (GRCm39)	missense	probably damaging	1.00
R6294:Dync2h1	UTSW	9	7,084,986 (GRCm39)	missense	probably benign	0.01
R6328:Dync2h1	UTSW	9	7,165,717 (GRCm39)	missense	probably benign	0.00
R6376:Dync2h1	UTSW	9	7,165,703 (GRCm39)	missense	probably benign	0.21
R6394:Dync2h1	UTSW	9	7,168,331 (GRCm39)	missense	probably damaging	0.99
R6539:Dync2h1	UTSW	9	7,159,478 (GRCm39)	splice site	probably null
R6554:Dync2h1	UTSW	9	7,037,699 (GRCm39)	missense	probably benign	0.39
R6559:Dync2h1	UTSW	9	7,139,501 (GRCm39)	missense	possibly damaging	0.72
R6563:Dync2h1	UTSW	9	7,120,819 (GRCm39)	missense	probably benign	0.27
R6807:Dync2h1	UTSW	9	7,041,718 (GRCm39)	missense	probably benign	0.10
R6848:Dync2h1	UTSW	9	7,159,632 (GRCm39)	missense	probably benign	0.22
R6901:Dync2h1	UTSW	9	7,131,855 (GRCm39)	missense	probably damaging	1.00
R6921:Dync2h1	UTSW	9	7,102,549 (GRCm39)	missense	probably benign
R6997:Dync2h1	UTSW	9	7,168,743 (GRCm39)	missense	probably null	0.00
R7084:Dync2h1	UTSW	9	7,113,214 (GRCm39)	missense	possibly damaging	0.72
R7113:Dync2h1	UTSW	9	7,075,788 (GRCm39)	missense	probably benign	0.03
R7131:Dync2h1	UTSW	9	7,075,786 (GRCm39)	missense	probably damaging	1.00
R7165:Dync2h1	UTSW	9	7,050,479 (GRCm39)	missense	probably benign
R7196:Dync2h1	UTSW	9	7,147,715 (GRCm39)	nonsense	probably null
R7208:Dync2h1	UTSW	9	7,141,059 (GRCm39)	missense	probably damaging	1.00
R7225:Dync2h1	UTSW	9	7,142,756 (GRCm39)	missense	probably benign
R7237:Dync2h1	UTSW	9	6,993,966 (GRCm39)	missense	probably benign	0.00
R7243:Dync2h1	UTSW	9	7,102,405 (GRCm39)	missense	possibly damaging	0.64
R7291:Dync2h1	UTSW	9	6,929,590 (GRCm39)	missense	possibly damaging	0.69
R7293:Dync2h1	UTSW	9	7,001,454 (GRCm39)	missense	possibly damaging	0.88
R7329:Dync2h1	UTSW	9	7,011,247 (GRCm39)	missense	probably benign
R7351:Dync2h1	UTSW	9	7,167,145 (GRCm39)	missense	probably damaging	1.00
R7358:Dync2h1	UTSW	9	7,159,479 (GRCm39)	critical splice donor site	probably null
R7387:Dync2h1	UTSW	9	7,157,932 (GRCm39)	missense	possibly damaging	0.68
R7446:Dync2h1	UTSW	9	7,041,720 (GRCm39)	missense	probably benign	0.03
R7487:Dync2h1	UTSW	9	7,132,041 (GRCm39)	missense	probably benign	0.26
R7488:Dync2h1	UTSW	9	7,124,855 (GRCm39)	missense	probably benign	0.03
R7496:Dync2h1	UTSW	9	7,135,015 (GRCm39)	splice site	probably null
R7501:Dync2h1	UTSW	9	7,175,336 (GRCm39)	missense	possibly damaging	0.82
R7571:Dync2h1	UTSW	9	7,002,623 (GRCm39)	missense	probably damaging	1.00
R7627:Dync2h1	UTSW	9	7,101,111 (GRCm39)	missense	probably benign	0.00
R7639:Dync2h1	UTSW	9	7,141,254 (GRCm39)	missense	probably damaging	0.97
R7653:Dync2h1	UTSW	9	7,117,570 (GRCm39)	missense	probably benign
R7654:Dync2h1	UTSW	9	7,122,664 (GRCm39)	missense	probably damaging	1.00
R7742:Dync2h1	UTSW	9	7,076,232 (GRCm39)	missense	probably benign	0.00
R7755:Dync2h1	UTSW	9	7,015,490 (GRCm39)	missense	probably benign	0.00
R7762:Dync2h1	UTSW	9	7,129,719 (GRCm39)	missense	probably benign	0.01
R7790:Dync2h1	UTSW	9	7,114,914 (GRCm39)	missense	probably damaging	0.96
R7834:Dync2h1	UTSW	9	7,118,953 (GRCm39)	missense	probably benign	0.04
R7883:Dync2h1	UTSW	9	7,005,566 (GRCm39)	missense	possibly damaging	0.80
R7952:Dync2h1	UTSW	9	7,129,802 (GRCm39)	missense	possibly damaging	0.63
R8111:Dync2h1	UTSW	9	7,148,688 (GRCm39)	missense	probably benign	0.03
R8157:Dync2h1	UTSW	9	7,001,473 (GRCm39)	missense	possibly damaging	0.47
R8166:Dync2h1	UTSW	9	7,129,089 (GRCm39)	nonsense	probably null
R8236:Dync2h1	UTSW	9	7,080,363 (GRCm39)	intron	probably benign
R8326:Dync2h1	UTSW	9	7,147,771 (GRCm39)	missense	probably benign
R8335:Dync2h1	UTSW	9	7,084,941 (GRCm39)	missense	probably benign	0.28
R8347:Dync2h1	UTSW	9	7,116,578 (GRCm39)	missense	possibly damaging	0.81
R8372:Dync2h1	UTSW	9	7,111,514 (GRCm39)	missense	possibly damaging	0.90
R8421:Dync2h1	UTSW	9	7,102,477 (GRCm39)	missense	probably damaging	1.00
R8518:Dync2h1	UTSW	9	7,051,452 (GRCm39)	missense	probably benign	0.04
R8556:Dync2h1	UTSW	9	7,113,198 (GRCm39)	missense	probably benign	0.32
R8690:Dync2h1	UTSW	9	7,075,824 (GRCm39)	missense	probably damaging	1.00
R8713:Dync2h1	UTSW	9	7,141,008 (GRCm39)	nonsense	probably null
R8719:Dync2h1	UTSW	9	7,041,641 (GRCm39)	missense	probably benign	0.05
R8732:Dync2h1	UTSW	9	7,168,326 (GRCm39)	missense	probably damaging	1.00
R8744:Dync2h1	UTSW	9	7,011,220 (GRCm39)	nonsense	probably null
R8749:Dync2h1	UTSW	9	7,035,063 (GRCm39)	missense	probably benign	0.32
R8795:Dync2h1	UTSW	9	7,137,087 (GRCm39)	missense	probably benign	0.00
R8853:Dync2h1	UTSW	9	7,117,645 (GRCm39)	missense	possibly damaging	0.94
R8923:Dync2h1	UTSW	9	7,168,515 (GRCm39)	missense	probably benign
R8969:Dync2h1	UTSW	9	7,130,723 (GRCm39)	missense	probably damaging	1.00
R8988:Dync2h1	UTSW	9	7,037,727 (GRCm39)	missense	probably benign	0.00
R8997:Dync2h1	UTSW	9	7,129,003 (GRCm39)	missense	probably benign
R9025:Dync2h1	UTSW	9	7,139,462 (GRCm39)	nonsense	probably null
R9036:Dync2h1	UTSW	9	7,051,495 (GRCm39)	missense	probably damaging	1.00
R9055:Dync2h1	UTSW	9	6,996,641 (GRCm39)	intron	probably benign
R9165:Dync2h1	UTSW	9	7,114,883 (GRCm39)	missense	probably damaging	0.99
R9172:Dync2h1	UTSW	9	7,031,771 (GRCm39)	missense	probably damaging	1.00
R9286:Dync2h1	UTSW	9	6,941,668 (GRCm39)	missense	probably benign	0.01
R9312:Dync2h1	UTSW	9	7,050,413 (GRCm39)	missense	probably damaging	1.00
R9335:Dync2h1	UTSW	9	7,112,149 (GRCm39)	missense	possibly damaging	0.88
R9344:Dync2h1	UTSW	9	7,148,659 (GRCm39)	missense	probably benign	0.01
R9351:Dync2h1	UTSW	9	7,176,911 (GRCm39)	missense	probably damaging	0.98
R9367:Dync2h1	UTSW	9	7,125,730 (GRCm39)	critical splice donor site	probably null
R9613:Dync2h1	UTSW	9	7,075,769 (GRCm39)	missense	probably damaging	0.99
R9650:Dync2h1	UTSW	9	7,174,849 (GRCm39)	missense	possibly damaging	0.83
R9726:Dync2h1	UTSW	9	7,077,999 (GRCm39)	missense	possibly damaging	0.94
R9731:Dync2h1	UTSW	9	7,141,166 (GRCm39)	missense	probably benign
X0009:Dync2h1	UTSW	9	7,117,576 (GRCm39)	missense	possibly damaging	0.81
Z1176:Dync2h1	UTSW	9	7,168,730 (GRCm39)	frame shift	probably null
Z1176:Dync2h1	UTSW	9	7,142,361 (GRCm39)	missense	probably damaging	0.99
Z1177:Dync2h1	UTSW	9	7,102,427 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- ACTTGTCTTGCCTCTGAGGG -3'
(R):5'- CTTAAGTCAGAGAAAGGACCTCC -3'

Sequencing Primer
(F):5'- TGGAGCATATATGTGACATCCCC -3'
(R):5'- CAAGATAGCAGAAGCTCTT -3'

Posted On

2018-02-27