Mutagenetix > Incidental Mutation

Incidental Mutation 'R1961:Kif21a'

317973

Institutional Source

Beutler Lab

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

MMRRC Submission

039975-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1961 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90933276-91049948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 90970848 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Valine at position 703 (A703V)

Ref Sequence

ENSEMBL: ENSMUSP00000104910 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000067205] [ENSMUST00000088614] [ENSMUST00000100304] [ENSMUST00000109287] [ENSMUST00000109288] [ENSMUST00000229801]

AlphaFold

Q9QXL2

Predicted Effect

probably benign
Transcript: ENSMUST00000067205
AA Change: A703V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: A703V

Domain	Start	End	E-Value	Type
KISc	7	379	8.97e-163	SMART
Blast:KISc	469	513	9e-9	BLAST
low complexity region	514	525	N/A	INTRINSIC
low complexity region	542	557	N/A	INTRINSIC
low complexity region	571	585	N/A	INTRINSIC
low complexity region	589	628	N/A	INTRINSIC
low complexity region	700	713	N/A	INTRINSIC
coiled coil region	924	1008	N/A	INTRINSIC
coiled coil region	1043	1066	N/A	INTRINSIC
low complexity region	1101	1112	N/A	INTRINSIC
low complexity region	1222	1234	N/A	INTRINSIC
low complexity region	1251	1271	N/A	INTRINSIC
WD40	1290	1327	1.21e-7	SMART
WD40	1330	1368	7.28e-2	SMART
WD40	1394	1432	3.33e-1	SMART
WD40	1435	1477	7e-4	SMART
WD40	1485	1523	2.4e-1	SMART
WD40	1527	1566	1.48e-2	SMART
WD40	1569	1606	2.07e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000088614
AA Change: A716V

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

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: A716V

Domain	Start	End	E-Value	Type
KISc	7	379	8.97e-163	SMART
Blast:KISc	469	513	1e-8	BLAST
low complexity region	514	525	N/A	INTRINSIC
low complexity region	542	564	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
low complexity region	602	641	N/A	INTRINSIC
low complexity region	713	726	N/A	INTRINSIC
coiled coil region	937	1021	N/A	INTRINSIC
coiled coil region	1056	1079	N/A	INTRINSIC
low complexity region	1114	1125	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC
low complexity region	1300	1316	N/A	INTRINSIC
WD40	1334	1371	1.21e-7	SMART
WD40	1374	1412	7.28e-2	SMART
WD40	1438	1476	3.33e-1	SMART
WD40	1479	1521	7e-4	SMART
WD40	1529	1567	2.4e-1	SMART
WD40	1571	1610	1.48e-2	SMART
WD40	1613	1650	2.07e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000100304
AA Change: A716V

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: A716V

Domain	Start	End	E-Value	Type
KISc	7	379	8.97e-163	SMART
Blast:KISc	469	513	1e-8	BLAST
low complexity region	514	525	N/A	INTRINSIC
low complexity region	542	564	N/A	INTRINSIC
low complexity region	584	598	N/A	INTRINSIC
low complexity region	602	641	N/A	INTRINSIC
low complexity region	713	726	N/A	INTRINSIC
coiled coil region	937	1021	N/A	INTRINSIC
coiled coil region	1056	1079	N/A	INTRINSIC
low complexity region	1271	1283	N/A	INTRINSIC
low complexity region	1300	1316	N/A	INTRINSIC
WD40	1334	1371	1.21e-7	SMART
WD40	1374	1412	7.28e-2	SMART
WD40	1438	1476	3.33e-1	SMART
WD40	1479	1521	7e-4	SMART
WD40	1529	1567	2.4e-1	SMART
WD40	1571	1610	1.48e-2	SMART
WD40	1613	1650	2.07e-6	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109287
AA Change: A703V

PolyPhen 2 Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: A703V

Domain	Start	End	E-Value	Type
KISc	7	379	8.97e-163	SMART
Blast:KISc	469	513	9e-9	BLAST
low complexity region	514	525	N/A	INTRINSIC
low complexity region	542	557	N/A	INTRINSIC
low complexity region	571	585	N/A	INTRINSIC
low complexity region	589	628	N/A	INTRINSIC
low complexity region	700	713	N/A	INTRINSIC
coiled coil region	924	1008	N/A	INTRINSIC
coiled coil region	1043	1066	N/A	INTRINSIC
low complexity region	1101	1112	N/A	INTRINSIC
WD40	1229	1266	1.21e-7	SMART
WD40	1269	1307	7.28e-2	SMART
WD40	1333	1371	3.33e-1	SMART
WD40	1374	1416	7e-4	SMART
WD40	1424	1462	2.4e-1	SMART
WD40	1466	1505	1.48e-2	SMART
WD40	1508	1545	2.07e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000109288
AA Change: A703V

PolyPhen 2 Score 0.045 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: A703V

Domain	Start	End	E-Value	Type
KISc	7	379	8.97e-163	SMART
Blast:KISc	469	513	9e-9	BLAST
low complexity region	514	525	N/A	INTRINSIC
low complexity region	542	557	N/A	INTRINSIC
low complexity region	571	585	N/A	INTRINSIC
low complexity region	589	628	N/A	INTRINSIC
low complexity region	700	713	N/A	INTRINSIC
coiled coil region	924	1008	N/A	INTRINSIC
coiled coil region	1043	1066	N/A	INTRINSIC
low complexity region	1205	1216	N/A	INTRINSIC
WD40	1235	1272	1.21e-7	SMART
WD40	1275	1313	7.28e-2	SMART
WD40	1339	1377	3.33e-1	SMART
WD40	1380	1422	7e-4	SMART
WD40	1430	1468	2.4e-1	SMART
WD40	1472	1511	1.48e-2	SMART
WD40	1514	1551	2.07e-6	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000229801

Meta Mutation Damage Score

0.1955

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.4%

Validation Efficiency

99% (93/94)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the KIF4 subfamily of kinesin-like motor proteins. The encoded protein is characterized by an N-terminal motor domain a coiled-coil stalk domain and a C-terminal WD-40 repeat domain. This protein may be involved in microtubule dependent transport. Mutations in this gene are the cause of congenital fibrosis of extraocular muscles-1. Alternate splicing results in multiple transcript variants.[provided by RefSeq, Mar 2010]

Allele List at MGI

Other mutations in this stock

Total: 92 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700123L14Rik	A	G	6: 96,165,269	S265P	possibly damaging	Het
3110001I22Rik	T	A	16: 13,677,728	H230Q	probably benign	Het
Abcc1	T	C	16: 14,396,393	Y191H	probably damaging	Het
Abcc4	C	A	14: 118,611,456	G495C	probably damaging	Het
Abcc4	C	A	14: 118,611,459	V494L	possibly damaging	Het
Acsm4	T	C	7: 119,708,740	Y367H	probably benign	Het
Adam21	A	T	12: 81,559,508	Y493*	probably null	Het
Add2	T	C	6: 86,096,756	F209S	probably damaging	Het
Adgre4	T	C	17: 55,791,497	S136P	probably benign	Het
Aff4	T	G	11: 53,372,999	L282R	probably damaging	Het
Akt3	A	G	1: 177,096,995	I178T	probably damaging	Het
Ap3m1	T	C	14: 21,041,015	Y174C	probably damaging	Het
Atl1	A	G	12: 69,953,500	E308G	probably benign	Het
Atp8b5	T	G	4: 43,369,688	V942G	probably damaging	Het
B3gntl1	A	G	11: 121,644,525		probably null	Het
Btrc	T	G	19: 45,527,343	I480S	probably damaging	Het
Cacna1c	A	T	6: 118,630,322	I1366N	probably benign	Het
Ccdc113	T	A	8: 95,540,831	N141K	probably benign	Het
Ccdc167	T	C	17: 29,704,431	N77D	possibly damaging	Het
Ccser1	T	C	6: 61,313,646		probably benign	Het
Cenpe	A	G	3: 135,242,493	E1230G	probably damaging	Het
Clec12a	A	C	6: 129,350,481	T21P	possibly damaging	Het
Cyp26c1	T	A	19: 37,687,377	F230I	probably damaging	Het
Exog	A	G	9: 119,452,266	E190G	possibly damaging	Het
Fam162b	A	G	10: 51,590,334	W30R	probably benign	Het
Fam172a	C	A	13: 77,902,720	H50N	probably benign	Het
Fndc3b	G	A	3: 27,456,451	Q841*	probably null	Het
Frzb	T	A	2: 80,424,601	Y197F	probably benign	Het
G530012D18Rik	CAGAGAGA	CAGAGAGAGA	1: 85,577,224		probably null	Het
Gabrb1	G	A	5: 71,700,336	R43Q	probably benign	Het
Gm21060	A	T	19: 61,297,007	H21Q	possibly damaging	Het
Gm4825	A	G	15: 85,511,044		noncoding transcript	Het
Gm5581	A	C	6: 131,168,162		noncoding transcript	Het
Gm9894	T	C	13: 67,763,915		noncoding transcript	Het
Gpr15	T	A	16: 58,718,007	I240L	probably benign	Het
Gria4	A	T	9: 4,519,546		probably benign	Het
Grid2	T	C	6: 63,908,893	L91S	probably damaging	Het
Igsf5	A	C	16: 96,378,351	T215P	probably damaging	Het
Kif13a	G	A	13: 46,864,838		probably benign	Het
Kif27	T	G	13: 58,293,123	R1159S	probably benign	Het
Kifc2	T	A	15: 76,662,825	L226H	probably damaging	Het
Klf10	T	C	15: 38,295,996	H435R	probably damaging	Het
Masp1	T	C	16: 23,452,932	Y623C	probably damaging	Het
Megf10	T	A	18: 57,212,354	C118S	probably damaging	Het
Mical3	A	G	6: 120,982,607	V909A	possibly damaging	Het
Mmrn2	A	G	14: 34,398,475		probably null	Het
Mpeg1	G	A	19: 12,462,911	V578M	probably damaging	Het
Nlrp2	T	C	7: 5,327,738	E553G	probably damaging	Het
Nmi	A	T	2: 51,948,620	S301T	probably benign	Het
Nr2f2	G	T	7: 70,358,155	T193K	possibly damaging	Het
Ntng2	T	C	2: 29,197,098	N404S	probably damaging	Het
Olfr54	T	G	11: 51,027,475	S158A	probably benign	Het
Olfr594	T	C	7: 103,219,997	V93A	probably benign	Het
Oplah	G	A	15: 76,297,464	T1119I	probably damaging	Het
Otoa	T	A	7: 121,118,569	D336E	probably benign	Het
Pde4b	A	G	4: 102,597,460	E108G	probably damaging	Het
Pdgfrb	G	A	18: 61,061,505	R118H	possibly damaging	Het
Phactr4	G	A	4: 132,377,248	T256I	probably benign	Het
Pla2g3	C	T	11: 3,490,983	T316I	probably benign	Het
Plekhg4	A	G	8: 105,381,464	E982G	probably damaging	Het
Pmfbp1	T	G	8: 109,530,144		probably benign	Het
Pot1b	A	T	17: 55,662,531	Y546N	probably damaging	Het
Rab11fip5	C	A	6: 85,348,991	Q144H	possibly damaging	Het
Reep3	A	T	10: 67,039,499		probably null	Het
Rgl2	T	C	17: 33,933,615	L400P	probably damaging	Het
Rnf122	A	G	8: 31,124,846		probably benign	Het
Scgb1b21	G	T	7: 33,527,378		noncoding transcript	Het
Sec63	A	T	10: 42,823,886	K647N	probably damaging	Het
Sema4a	C	T	3: 88,438,176		probably benign	Het
Serpinf1	C	T	11: 75,416,419	V31I	probably benign	Het
Sez6l	C	T	5: 112,424,615		probably benign	Het
Shank3	T	C	15: 89,557,964	S1612P	possibly damaging	Het
Slc19a3	G	A	1: 83,022,798	T166M	probably benign	Het
Slc22a29	C	A	19: 8,169,193	R415M	probably benign	Het
Slc38a11	A	T	2: 65,330,339	F304I	possibly damaging	Het
Slitrk1	T	A	14: 108,912,190	N363I	probably damaging	Het
Slx4ip	A	G	2: 137,067,681	T129A	probably benign	Het
Spop	T	C	11: 95,491,711	V332A	possibly damaging	Het
Sptlc1	A	C	13: 53,358,880	D147E	probably benign	Het
Tnpo1	T	C	13: 98,852,932	Y754C	probably damaging	Het
Tox	C	A	4: 6,688,886	V493L	probably damaging	Het
Ttbk1	A	C	17: 46,480,224	F45V	probably damaging	Het
Ttc27	T	A	17: 74,780,856	M472K	probably damaging	Het
Ttll7	A	G	3: 146,915,795		probably benign	Het
Ttn	A	T	2: 76,721,760	C22851S	probably benign	Het
Ttn	T	A	2: 76,798,212	M14535L	possibly damaging	Het
Txlna	T	C	4: 129,640,262	T54A	probably benign	Het
Usp33	T	C	3: 152,380,628	V668A	probably damaging	Het
Vmn2r28	C	A	7: 5,481,071	C710F	possibly damaging	Het
Vmn2r8	T	A	5: 108,798,095	M549L	probably benign	Het
Vwa5b2	T	C	16: 20,602,191		probably null	Het
Wnk1	T	C	6: 119,969,247	I648M	probably damaging	Het

Other mutations in Kif21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Kif21a	APN	15	90937301	missense	probably damaging	1.00
IGL01476:Kif21a	APN	15	90943864	missense	possibly damaging	0.66
IGL01617:Kif21a	APN	15	90995637	splice site	probably benign
IGL01736:Kif21a	APN	15	90959745	missense	possibly damaging	0.59
IGL01923:Kif21a	APN	15	90956430	missense	probably damaging	0.96
IGL01985:Kif21a	APN	15	90991767	missense	probably damaging	1.00
IGL02304:Kif21a	APN	15	90965535	missense	probably damaging	1.00
IGL02589:Kif21a	APN	15	90985286	missense	probably damaging	1.00
IGL03115:Kif21a	APN	15	90985395	missense	probably damaging	0.99
IGL03211:Kif21a	APN	15	90997963	missense	possibly damaging	0.73
IGL03372:Kif21a	APN	15	90956376	missense	probably benign	0.38
reflex	UTSW	15	90968358	missense	probably null	1.00
R0052:Kif21a	UTSW	15	90970857	missense	probably damaging	0.98
R0052:Kif21a	UTSW	15	90970857	missense	probably damaging	0.98
R0304:Kif21a	UTSW	15	90976521	splice site	probably null
R0378:Kif21a	UTSW	15	90969774	splice site	probably null
R0420:Kif21a	UTSW	15	90968054	unclassified	probably benign
R0536:Kif21a	UTSW	15	90959683	splice site	probably benign
R0826:Kif21a	UTSW	15	90997541	critical splice donor site	probably null
R0971:Kif21a	UTSW	15	90940581	missense	possibly damaging	0.46
R1052:Kif21a	UTSW	15	90935650	missense	probably benign	0.17
R1168:Kif21a	UTSW	15	90993753	missense	probably damaging	1.00
R1324:Kif21a	UTSW	15	90948322	critical splice donor site	probably null
R1471:Kif21a	UTSW	15	90956419	missense	probably benign	0.04
R1625:Kif21a	UTSW	15	90942175	missense	probably damaging	1.00
R1636:Kif21a	UTSW	15	90984805	splice site	probably benign
R1647:Kif21a	UTSW	15	90994367	missense	probably damaging	1.00
R1648:Kif21a	UTSW	15	90994367	missense	probably damaging	1.00
R1699:Kif21a	UTSW	15	90959743	missense	probably damaging	0.99
R1703:Kif21a	UTSW	15	90949047	splice site	probably null
R1795:Kif21a	UTSW	15	90972727	splice site	probably null
R1812:Kif21a	UTSW	15	90971766	missense	possibly damaging	0.63
R1959:Kif21a	UTSW	15	90970848	missense	probably damaging	0.99
R1960:Kif21a	UTSW	15	90970848	missense	probably damaging	0.99
R1996:Kif21a	UTSW	15	90994371	nonsense	probably null
R2230:Kif21a	UTSW	15	90985362	nonsense	probably null
R2231:Kif21a	UTSW	15	90985362	nonsense	probably null
R2232:Kif21a	UTSW	15	90985362	nonsense	probably null
R2424:Kif21a	UTSW	15	90971196	missense	probably damaging	1.00
R2429:Kif21a	UTSW	15	90998005	missense	probably damaging	1.00
R2513:Kif21a	UTSW	15	90994391	missense	possibly damaging	0.96
R2846:Kif21a	UTSW	15	90934464	missense	probably benign
R3027:Kif21a	UTSW	15	90972642	missense	probably damaging	0.99
R3624:Kif21a	UTSW	15	90965595	missense	probably damaging	0.99
R3820:Kif21a	UTSW	15	90968074	missense	probably benign	0.17
R3923:Kif21a	UTSW	15	90937294	missense	possibly damaging	0.46
R3962:Kif21a	UTSW	15	90985409	missense	probably damaging	1.00
R4355:Kif21a	UTSW	15	90970833	missense	probably benign	0.17
R4516:Kif21a	UTSW	15	90971142	missense	probably benign	0.38
R4530:Kif21a	UTSW	15	90968089	splice site	probably null
R4612:Kif21a	UTSW	15	90968223	splice site	probably null
R4674:Kif21a	UTSW	15	90940545	missense	possibly damaging	0.66
R4675:Kif21a	UTSW	15	90940545	missense	possibly damaging	0.66
R4698:Kif21a	UTSW	15	90956305	missense	possibly damaging	0.85
R4712:Kif21a	UTSW	15	90984755	missense	probably damaging	1.00
R4955:Kif21a	UTSW	15	90937190	missense	probably damaging	1.00
R4974:Kif21a	UTSW	15	90949010	missense	probably benign	0.16
R5034:Kif21a	UTSW	15	90968358	missense	probably null	1.00
R5165:Kif21a	UTSW	15	90956376	missense	probably benign	0.38
R5464:Kif21a	UTSW	15	90993855	missense	probably damaging	1.00
R5541:Kif21a	UTSW	15	90968113	missense	probably damaging	0.99
R5757:Kif21a	UTSW	15	90951345	missense	probably damaging	1.00
R5936:Kif21a	UTSW	15	90935647	missense	possibly damaging	0.95
R5976:Kif21a	UTSW	15	90935812	missense	probably damaging	1.00
R6074:Kif21a	UTSW	15	90980892	missense	probably benign
R6638:Kif21a	UTSW	15	90966407	missense	probably damaging	1.00
R6723:Kif21a	UTSW	15	90940446	missense	probably damaging	0.97
R6785:Kif21a	UTSW	15	90935730	missense	probably damaging	1.00
R6977:Kif21a	UTSW	15	90980837	missense	probably damaging	1.00
R7058:Kif21a	UTSW	15	90948903	splice site	probably null
R7147:Kif21a	UTSW	15	90980883	missense	probably benign	0.13
R7290:Kif21a	UTSW	15	90967229	nonsense	probably null
R7438:Kif21a	UTSW	15	90993796	missense	probably benign	0.37
R7593:Kif21a	UTSW	15	90943861	missense	probably benign	0.03
R7661:Kif21a	UTSW	15	90980919	missense	possibly damaging	0.89
R7891:Kif21a	UTSW	15	90956314	missense	probably damaging	1.00
R8137:Kif21a	UTSW	15	90968442	missense	probably benign
R8182:Kif21a	UTSW	15	90935761	missense	possibly damaging	0.77
R8303:Kif21a	UTSW	15	90971196	missense	probably damaging	0.99
R8388:Kif21a	UTSW	15	90959124	missense	possibly damaging	0.60
R8867:Kif21a	UTSW	15	90968179	missense	probably damaging	0.96
R8921:Kif21a	UTSW	15	90971727	missense	probably benign	0.04
R8984:Kif21a	UTSW	15	90956356	missense	probably benign	0.00
R9024:Kif21a	UTSW	15	90937196	nonsense	probably null
R9254:Kif21a	UTSW	15	90969827	missense	probably damaging	0.99
R9366:Kif21a	UTSW	15	90959748	missense	probably damaging	0.99
R9379:Kif21a	UTSW	15	90969827	missense	probably damaging	0.99
R9393:Kif21a	UTSW	15	90969778	missense	probably benign	0.00
R9518:Kif21a	UTSW	15	90956473	missense	probably damaging	1.00
R9712:Kif21a	UTSW	15	90985325	missense	probably damaging	0.98
R9712:Kif21a	UTSW	15	90995512	missense	probably benign	0.13
R9721:Kif21a	UTSW	15	90971127	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGGAGTAGTCGAGGTACCTTG -3'
(R):5'- GAGTCTCCATCCTTACTCAGGG -3'

Sequencing Primer
(F):5'- AGTCGAGGTACCTTGGTTTTC -3'
(R):5'- TGGAGCCCAAAACCTTAGTCATTAG -3'

Posted On

2015-05-19