Mutagenetix > Incidental Mutation

Incidental Mutation 'R1900:Axdnd1'

214147

Institutional Source

Beutler Lab

Gene Symbol

Axdnd1

Ensembl Gene

ENSMUSG00000026601

Gene Name

axonemal dynein light chain domain containing 1

Synonyms

LOC381304, 9430070O13Rik

MMRRC Submission

039920-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.128) question?

Stock #

R1900 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

156323509-156421159 bp(-) (GRCm38)

Type of Mutation

splice site (6 bp from exon)

DNA Base Change (assembly)

A to G at 156380774 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000148420 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000177824] [ENSMUST00000177824] [ENSMUST00000177824] [ENSMUST00000178036] [ENSMUST00000178036] [ENSMUST00000178036] [ENSMUST00000213088] [ENSMUST00000213088] [ENSMUST00000213088]

AlphaFold

no structure available at present

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000027895

Predicted Effect

probably null
Transcript: ENSMUST00000177824

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	131	314	2.4e-12	PFAM
low complexity region	405	414	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC
coiled coil region	787	837	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177824

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	131	314	2.4e-12	PFAM
low complexity region	405	414	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC
coiled coil region	787	837	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000177824

SMART Domains

Protein: ENSMUSP00000135900
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	131	314	2.4e-12	PFAM
low complexity region	405	414	N/A	INTRINSIC
low complexity region	452	464	N/A	INTRINSIC
low complexity region	666	677	N/A	INTRINSIC
coiled coil region	787	837	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178036

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	196	380	3.3e-14	PFAM
low complexity region	470	479	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
coiled coil region	889	939	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178036

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	196	380	3.3e-14	PFAM
low complexity region	470	479	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
coiled coil region	889	939	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000178036

SMART Domains

Protein: ENSMUSP00000137354
Gene: ENSMUSG00000026601

Domain	Start	End	E-Value	Type
Pfam:Ax_dynein_light	196	380	3.3e-14	PFAM
low complexity region	470	479	N/A	INTRINSIC
low complexity region	517	529	N/A	INTRINSIC
low complexity region	731	742	N/A	INTRINSIC
coiled coil region	889	939	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000179572

Predicted Effect

probably null
Transcript: ENSMUST00000180173

Predicted Effect

probably null
Transcript: ENSMUST00000180173

Predicted Effect

probably null
Transcript: ENSMUST00000213088

Predicted Effect

probably null
Transcript: ENSMUST00000213088

Predicted Effect

probably null
Transcript: ENSMUST00000213088

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 97.5%
3x: 97.0%
10x: 95.5%
20x: 93.0%

Validation Efficiency

96% (100/104)

Allele List at MGI

Other mutations in this stock

Total: 104 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3632451O06Rik	T	C	14: 49,770,583 (GRCm38)	T478A	probably damaging	Het
6330409D20Rik	T	C	2: 32,740,547 (GRCm38)		probably benign	Het
Ago4	T	C	4: 126,516,936 (GRCm38)	I221V	probably benign	Het
Ankfy1	C	T	11: 72,754,407 (GRCm38)	Q771*	probably null	Het
Ankrd50	T	C	3: 38,455,387 (GRCm38)	T944A	probably damaging	Het
AU040320	A	C	4: 126,853,280 (GRCm38)		probably null	Het
Cdadc1	A	T	14: 59,586,532 (GRCm38)	D170E	probably damaging	Het
Cep164	C	A	9: 45,809,825 (GRCm38)	R93L	probably damaging	Het
Cep250	T	C	2: 155,985,374 (GRCm38)		probably null	Het
Cfdp1	G	A	8: 111,768,729 (GRCm38)	R286*	probably null	Het
Chrdl2	A	G	7: 100,033,664 (GRCm38)	I377V	possibly damaging	Het
Cntrob	A	T	11: 69,308,054 (GRCm38)	S623T	probably benign	Het
Col6a5	C	T	9: 105,931,213 (GRCm38)	G879S	unknown	Het
Cyp2c38	T	A	19: 39,438,312 (GRCm38)	I182F	probably benign	Het
Dennd4a	T	C	9: 64,897,336 (GRCm38)	V1319A	probably damaging	Het
Dysf	T	G	6: 84,039,567 (GRCm38)	V70G	probably damaging	Het
Edn3	A	G	2: 174,761,605 (GRCm38)	T49A	possibly damaging	Het
Elac1	C	G	18: 73,739,245 (GRCm38)	L226F	probably damaging	Het
Eps8l3	A	G	3: 107,890,952 (GRCm38)	D445G	probably benign	Het
Fam71a	T	A	1: 191,164,434 (GRCm38)	K4M	possibly damaging	Het
Fgf11	G	T	11: 69,801,453 (GRCm38)	T58K	probably benign	Het
Fstl5	T	A	3: 76,708,160 (GRCm38)	W843R	probably damaging	Het
Fyb2	A	G	4: 104,945,455 (GRCm38)	R185G	probably benign	Het
Gal3st2c	G	A	1: 94,009,044 (GRCm38)	R237H	probably damaging	Het
Galnt15	G	T	14: 32,049,865 (GRCm38)	R289L	probably damaging	Het
Gdf5	T	A	2: 155,942,081 (GRCm38)	D317V	probably damaging	Het
Gm10436	A	C	12: 88,177,260 (GRCm38)	L261R	probably benign	Het
Gm7808	A	G	9: 19,928,114 (GRCm38)		probably benign	Het
Hcn3	T	C	3: 89,148,263 (GRCm38)	E559G	probably benign	Het
Hdlbp	A	T	1: 93,422,237 (GRCm38)		probably benign	Het
Hhip	T	C	8: 79,975,046 (GRCm38)	T620A	probably benign	Het
Hs3st3a1	T	C	11: 64,520,442 (GRCm38)	S269P	probably damaging	Het
Il17ra	A	T	6: 120,477,394 (GRCm38)		probably null	Het
Kif2a	T	C	13: 106,976,995 (GRCm38)	N417S	possibly damaging	Het
Klhl41	T	A	2: 69,674,619 (GRCm38)		probably benign	Het
L3mbtl4	G	T	17: 68,459,805 (GRCm38)	C169F	probably damaging	Het
Lap3	T	C	5: 45,511,910 (GRCm38)	F467S	probably damaging	Het
Lpar6	A	T	14: 73,239,139 (GRCm38)	Y180F	probably benign	Het
Lrig3	T	C	10: 126,002,393 (GRCm38)		probably benign	Het
Ltbp2	A	T	12: 84,830,658 (GRCm38)	S378T	probably damaging	Het
Ltf	T	C	9: 111,022,845 (GRCm38)	F117L	possibly damaging	Het
Med16	T	C	10: 79,898,931 (GRCm38)	E533G	probably damaging	Het
Meltf	T	C	16: 31,881,969 (GRCm38)		probably null	Het
Mphosph10	C	T	7: 64,381,028 (GRCm38)	E488K	possibly damaging	Het
Mroh1	A	G	15: 76,433,385 (GRCm38)	T812A	probably benign	Het
Mto1	T	C	9: 78,461,517 (GRCm38)		probably benign	Het
Ndst1	A	T	18: 60,712,721 (GRCm38)		probably null	Het
Ndst4	T	A	3: 125,697,895 (GRCm38)		probably null	Het
Nhlh1	A	T	1: 172,054,041 (GRCm38)	I86N	probably damaging	Het
Nme9	A	C	9: 99,459,774 (GRCm38)	D59A	probably damaging	Het
Nox4	A	T	7: 87,360,796 (GRCm38)	R402*	probably null	Het
Npr1	T	C	3: 90,462,188 (GRCm38)	D410G	probably damaging	Het
Nrip1	T	A	16: 76,292,039 (GRCm38)	T877S	probably benign	Het
Nsd2	A	G	5: 33,846,169 (GRCm38)	N221S	probably benign	Het
Olfr1230	T	C	2: 89,296,670 (GRCm38)	N200S	probably damaging	Het
Olfr1463	T	A	19: 13,234,913 (GRCm38)	I221K	possibly damaging	Het
Olfr23	C	A	11: 73,940,660 (GRCm38)	P138Q	possibly damaging	Het
Olfr250	A	T	9: 38,368,064 (GRCm38)	I173L	probably benign	Het
Olfr561	A	T	7: 102,775,331 (GRCm38)	H269L	probably benign	Het
Olfr61	A	T	7: 140,638,592 (GRCm38)	D297V	probably damaging	Het
Olfr616	A	T	7: 103,564,607 (GRCm38)	L224*	probably null	Het
Ophn1	A	T	X: 98,726,059 (GRCm38)	Y181*	probably null	Het
Parp1	A	G	1: 180,597,339 (GRCm38)	K819R	probably damaging	Het
Parp9	T	C	16: 35,972,221 (GRCm38)	S829P	probably benign	Het
Pde6c	T	A	19: 38,161,940 (GRCm38)	F511Y	probably damaging	Het
Per3	G	T	4: 151,041,426 (GRCm38)	H145Q	probably damaging	Het
Pglyrp1	C	T	7: 18,890,226 (GRCm38)	R145W	probably damaging	Het
Piezo1	T	C	8: 122,482,645 (GRCm38)		probably benign	Het
Plb1	T	C	5: 32,286,847 (GRCm38)	I312T	probably benign	Het
Plin3	T	A	17: 56,279,824 (GRCm38)	T408S	possibly damaging	Het
Polr2a	A	T	11: 69,743,946 (GRCm38)	I636N	probably damaging	Het
Prex2	G	T	1: 11,162,366 (GRCm38)	E886*	probably null	Het
Proca1	A	T	11: 78,205,021 (GRCm38)	I73F	probably damaging	Het
Prpmp5	A	T	6: 132,314,698 (GRCm38)	L11Q	unknown	Het
Ptpn6	A	G	6: 124,728,933 (GRCm38)	S83P	probably benign	Het
Rtp1	G	T	16: 23,429,299 (GRCm38)	V41L	probably benign	Het
Scn4a	A	G	11: 106,327,533 (GRCm38)	I1035T	probably damaging	Het
Sell	A	T	1: 164,065,338 (GRCm38)	Y41F	probably damaging	Het
Serping1	C	T	2: 84,771,449 (GRCm38)	V226M	probably damaging	Het
Sf3b1	A	T	1: 54,998,188 (GRCm38)	D856E	possibly damaging	Het
Sfmbt1	T	A	14: 30,802,567 (GRCm38)	Y503N	probably damaging	Het
Slc16a1	T	A	3: 104,653,564 (GRCm38)	V395D	probably damaging	Het
Slc22a7	A	T	17: 46,438,231 (GRCm38)	D53E	probably benign	Het
Slc35b3	A	G	13: 38,960,611 (GRCm38)		probably null	Het
Slc6a1	T	C	6: 114,311,854 (GRCm38)	M274T	possibly damaging	Het
Slco1a5	A	G	6: 142,242,063 (GRCm38)	S517P	probably benign	Het
Smo	A	G	6: 29,736,056 (GRCm38)	R16G	unknown	Het
Srebf1	A	G	11: 60,203,486 (GRCm38)	L601P	probably damaging	Het
Sspo	A	G	6: 48,459,350 (GRCm38)	I1086M	probably benign	Het
Tas2r106	A	T	6: 131,678,410 (GRCm38)	N159K	probably damaging	Het
Thsd1	G	A	8: 22,252,318 (GRCm38)		probably benign	Het
Tmeff1	T	C	4: 48,658,938 (GRCm38)		probably benign	Het
Tmem140	G	A	6: 34,872,903 (GRCm38)	C118Y	possibly damaging	Het
Tmem168	A	G	6: 13,583,071 (GRCm38)	C220R	probably benign	Het
Tox2	A	T	2: 163,276,167 (GRCm38)	N129Y	probably damaging	Het
Trappc12	C	T	12: 28,746,985 (GRCm38)	E183K	probably damaging	Het
Unc50	A	G	1: 37,438,799 (GRCm38)	Y254C	probably damaging	Het
Unk	T	G	11: 116,059,081 (GRCm38)	D691E	probably benign	Het
Uox	T	A	3: 146,610,379 (GRCm38)	V23D	probably damaging	Het
Vps13d	A	G	4: 145,126,606 (GRCm38)	C2313R	probably benign	Het
Zfp804b	T	A	5: 6,769,283 (GRCm38)	H1260L	probably damaging	Het
Zfyve26	A	G	12: 79,264,351 (GRCm38)	L147P	probably damaging	Het
Zmynd10	A	T	9: 107,550,037 (GRCm38)	Q288L	probably benign	Het
Zzef1	T	A	11: 72,848,714 (GRCm38)	D662E	probably damaging	Het

Other mutations in Axdnd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03058:Axdnd1	APN	1	156,376,663 (GRCm38)	missense	probably benign	0.41
IGL03075:Axdnd1	APN	1	156,395,442 (GRCm38)	missense	probably damaging	1.00
IGL03165:Axdnd1	APN	1	156,378,389 (GRCm38)	missense	probably benign	0.00
R0164:Axdnd1	UTSW	1	156,378,386 (GRCm38)	missense	possibly damaging	0.93
R0164:Axdnd1	UTSW	1	156,378,386 (GRCm38)	missense	possibly damaging	0.93
R0739:Axdnd1	UTSW	1	156,380,886 (GRCm38)	missense	possibly damaging	0.73
R1087:Axdnd1	UTSW	1	156,365,689 (GRCm38)	missense	probably benign	0.08
R1350:Axdnd1	UTSW	1	156,378,380 (GRCm38)	critical splice donor site	probably null
R1488:Axdnd1	UTSW	1	156,348,960 (GRCm38)	missense	probably damaging	1.00
R1493:Axdnd1	UTSW	1	156,346,701 (GRCm38)	missense	probably benign	0.03
R1845:Axdnd1	UTSW	1	156,376,544 (GRCm38)	missense	possibly damaging	0.58
R2126:Axdnd1	UTSW	1	156,333,214 (GRCm38)	missense	probably benign	0.03
R2163:Axdnd1	UTSW	1	156,392,003 (GRCm38)	missense	probably damaging	1.00
R2169:Axdnd1	UTSW	1	156,418,309 (GRCm38)	missense	probably damaging	1.00
R2380:Axdnd1	UTSW	1	156,365,651 (GRCm38)	missense	probably benign	0.02
R2568:Axdnd1	UTSW	1	156,392,749 (GRCm38)	missense	possibly damaging	0.90
R3052:Axdnd1	UTSW	1	156,341,870 (GRCm38)	missense	probably damaging	0.96
R3053:Axdnd1	UTSW	1	156,341,870 (GRCm38)	missense	probably damaging	0.96
R3767:Axdnd1	UTSW	1	156,380,858 (GRCm38)	missense	probably damaging	1.00
R3927:Axdnd1	UTSW	1	156,419,270 (GRCm38)	missense	probably damaging	1.00
R3936:Axdnd1	UTSW	1	156,331,639 (GRCm38)	missense	probably benign	0.01
R4829:Axdnd1	UTSW	1	156,376,646 (GRCm38)	missense	possibly damaging	0.93
R4882:Axdnd1	UTSW	1	156,395,559 (GRCm38)	splice site	probably null
R4969:Axdnd1	UTSW	1	156,395,505 (GRCm38)	missense	possibly damaging	0.95
R5091:Axdnd1	UTSW	1	156,420,410 (GRCm38)	missense	possibly damaging	0.83
R5510:Axdnd1	UTSW	1	156,335,350 (GRCm38)	missense	probably benign	0.03
R5549:Axdnd1	UTSW	1	156,398,534 (GRCm38)	missense	probably damaging	1.00
R5587:Axdnd1	UTSW	1	156,351,412 (GRCm38)	missense	probably damaging	1.00
R5792:Axdnd1	UTSW	1	156,341,889 (GRCm38)	missense	probably damaging	0.99
R5840:Axdnd1	UTSW	1	156,348,958 (GRCm38)	missense	probably damaging	1.00
R6187:Axdnd1	UTSW	1	156,365,612 (GRCm38)	splice site	probably null
R6208:Axdnd1	UTSW	1	156,392,856 (GRCm38)	intron	probably benign
R6369:Axdnd1	UTSW	1	156,392,745 (GRCm38)	missense	probably damaging	1.00
R6493:Axdnd1	UTSW	1	156,380,813 (GRCm38)	missense	probably damaging	1.00
R7014:Axdnd1	UTSW	1	156,330,962 (GRCm38)	splice site	probably null
R7115:Axdnd1	UTSW	1	156,380,876 (GRCm38)	missense
R7203:Axdnd1	UTSW	1	156,382,389 (GRCm38)	missense	probably damaging	0.98
R7352:Axdnd1	UTSW	1	156,382,477 (GRCm38)	missense	possibly damaging	0.91
R7447:Axdnd1	UTSW	1	156,418,232 (GRCm38)	critical splice donor site	probably null
R7470:Axdnd1	UTSW	1	156,376,516 (GRCm38)	missense
R7686:Axdnd1	UTSW	1	156,395,464 (GRCm38)	nonsense	probably null
R7793:Axdnd1	UTSW	1	156,338,743 (GRCm38)	critical splice donor site	probably null
R7809:Axdnd1	UTSW	1	156,392,801 (GRCm38)	nonsense	probably null
R7882:Axdnd1	UTSW	1	156,397,453 (GRCm38)	missense
R8256:Axdnd1	UTSW	1	156,330,666 (GRCm38)	missense	unknown
R8348:Axdnd1	UTSW	1	156,418,284 (GRCm38)	missense	probably benign	0.02
R8971:Axdnd1	UTSW	1	156,391,946 (GRCm38)	missense
R9207:Axdnd1	UTSW	1	156,388,046 (GRCm38)	missense
R9294:Axdnd1	UTSW	1	156,420,347 (GRCm38)	nonsense	probably null
R9741:Axdnd1	UTSW	1	156,341,815 (GRCm38)	missense	probably benign	0.18
X0009:Axdnd1	UTSW	1	156,388,079 (GRCm38)	missense	possibly damaging	0.61
X0067:Axdnd1	UTSW	1	156,376,535 (GRCm38)	missense	possibly damaging	0.67
Z1176:Axdnd1	UTSW	1	156,349,063 (GRCm38)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- GTTAAATGAAAGCAGCAGCCAC -3'
(R):5'- TAGGACACTGGAGACCTTGG -3'

Sequencing Primer
(F):5'- GGAGGACCTCACAGACGTTTAAC -3'
(R):5'- CACTGGAGACCTTGGGATGG -3'

Posted On

2014-07-14