Mutagenetix > Incidental Mutation

Incidental Mutation 'R5541:Kif21a'

435989

Institutional Source

Beutler Lab

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

MMRRC Submission

043099-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5541 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90933276-91049948 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 90968113 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Threonine at position 924 (M924T)

Ref Sequence

ENSEMBL: ENSMUSP00000066911 (fasta)

Gene Model

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

AlphaFold

Q9QXL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000067205
AA Change: M924T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: M924T

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

possibly damaging
Transcript: ENSMUST00000088614
AA Change: M937T

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: M937T

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

possibly damaging
Transcript: ENSMUST00000100304
AA Change: M937T

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: M937T

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

possibly damaging
Transcript: ENSMUST00000109287
AA Change: M924T

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: M924T

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

possibly damaging
Transcript: ENSMUST00000109288
AA Change: M924T

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: M924T

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

0.1946

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.4%
20x: 95.2%

Validation Efficiency

100% (63/63)

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: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610009B22Rik	T	C	11: 51,685,969 (GRCm38)	H34R	probably benign	Het
1700113H08Rik	A	G	10: 87,225,946 (GRCm38)	K86R	probably benign	Het
Abca13	T	C	11: 9,291,545 (GRCm38)	V1136A	probably benign	Het
Als2cr12	A	G	1: 58,658,429 (GRCm38)	M384T	probably benign	Het
Arfgap2	G	A	2: 91,275,769 (GRCm38)	R530H	probably benign	Het
Arhgap30	T	C	1: 171,404,139 (GRCm38)		probably null	Het
Asb7	T	C	7: 66,679,269 (GRCm38)	R8G	probably benign	Het
Bod1l	T	C	5: 41,791,933 (GRCm38)	N2949D	probably benign	Het
Ccdc86	T	C	19: 10,948,554 (GRCm38)	E227G	probably damaging	Het
Cercam	A	G	2: 29,875,629 (GRCm38)	D261G	probably benign	Het
Chd9	A	T	8: 91,051,504 (GRCm38)	E2714D	probably benign	Het
Dcp1a	T	A	14: 30,502,839 (GRCm38)	S126R	probably damaging	Het
Defa17	T	A	8: 21,656,549 (GRCm38)	C64S	probably damaging	Het
Depdc5	A	T	5: 32,864,629 (GRCm38)		probably benign	Het
Dhx29	A	G	13: 112,940,374 (GRCm38)	N259S	possibly damaging	Het
Dnah6	A	T	6: 73,192,988 (GRCm38)	L323Q	possibly damaging	Het
Dnah9	T	C	11: 66,145,336 (GRCm38)	Y416C	probably damaging	Het
Faap100	T	A	11: 120,377,632 (GRCm38)	E105V	possibly damaging	Het
Fbxw15	T	G	9: 109,565,430 (GRCm38)	I106L	probably benign	Het
Gm10610	A	G	7: 83,549,406 (GRCm38)		noncoding transcript	Het
Gpr22	A	G	12: 31,709,349 (GRCm38)	F258S	probably damaging	Het
Grip1	A	T	10: 120,072,718 (GRCm38)	I618F	probably damaging	Het
H2afy2	T	C	10: 61,747,717 (GRCm38)	I215V	probably benign	Het
Hspg2	C	T	4: 137,520,551 (GRCm38)	T1233I	probably damaging	Het
Hspg2	C	A	4: 137,542,825 (GRCm38)	Q2365K	probably benign	Het
Intu	A	G	3: 40,692,587 (GRCm38)		probably null	Het
Kdm1b	T	C	13: 47,079,196 (GRCm38)	M714T	probably damaging	Het
Klb	A	T	5: 65,379,234 (GRCm38)	M636L	probably benign	Het
Klrb1a	G	A	6: 128,609,736 (GRCm38)	H219Y	probably benign	Het
March10	C	T	11: 105,390,131 (GRCm38)	D443N	probably damaging	Het
Nos1	A	G	5: 117,905,394 (GRCm38)	E578G	probably damaging	Het
Olfr1502	T	C	19: 13,861,964 (GRCm38)	I57T	probably benign	Het
Olfr887	T	C	9: 38,085,123 (GRCm38)	C96R	probably damaging	Het
Pard3b	A	G	1: 61,639,343 (GRCm38)	Y34C	probably damaging	Het
Pcdh17	T	A	14: 84,447,416 (GRCm38)	V441E	probably damaging	Het
Pde6g	A	T	11: 120,448,172 (GRCm38)	I64N	probably damaging	Het
Pdia4	C	T	6: 47,796,637 (GRCm38)	V593M	probably damaging	Het
Pnn	T	G	12: 59,071,930 (GRCm38)	V433G	possibly damaging	Het
Rbak	G	A	5: 143,173,990 (GRCm38)	S436F	probably damaging	Het
Rpl11	A	G	4: 136,052,732 (GRCm38)		probably benign	Het
Ryr1	G	T	7: 29,086,185 (GRCm38)	Q1701K	probably damaging	Het
Scn1a	T	A	2: 66,324,633 (GRCm38)	T661S	probably benign	Het
Smg1	T	A	7: 118,157,163 (GRCm38)		probably benign	Het
St8sia2	T	C	7: 73,966,900 (GRCm38)	D109G	probably benign	Het
Stk-ps1	T	A	17: 36,398,213 (GRCm38)		noncoding transcript	Het
Stxbp3-ps	C	T	19: 9,557,970 (GRCm38)		noncoding transcript	Het
Taf1d	T	A	9: 15,308,850 (GRCm38)	F132I	probably damaging	Het
Tfap2b	A	G	1: 19,214,026 (GRCm38)	S35G	possibly damaging	Het
Tnk2	C	T	16: 32,669,523 (GRCm38)	T198I	probably benign	Het
Ube2q2	T	A	9: 55,191,879 (GRCm38)	V168E	possibly damaging	Het
Ucma	A	G	2: 4,981,330 (GRCm38)	R105G	probably benign	Het
Vmn2r97	C	T	17: 18,928,355 (GRCm38)	Q171*	probably null	Het
Wapl	T	C	14: 34,730,662 (GRCm38)		probably null	Het
Zfand4	T	A	6: 116,314,295 (GRCm38)	C397S	possibly damaging	Het
Zfhx3	A	G	8: 108,948,951 (GRCm38)	N2211S	probably damaging	Het
Zfp143	G	T	7: 110,070,480 (GRCm38)	G39C	probably benign	Het
Zfp568	T	A	7: 30,022,876 (GRCm38)	D414E	possibly damaging	Het
Zfp574	C	T	7: 25,081,950 (GRCm38)	A799V	probably damaging	Het

Other mutations in Kif21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Kif21a	APN	15	90,937,301 (GRCm38)	missense	probably damaging	1.00
IGL01476:Kif21a	APN	15	90,943,864 (GRCm38)	missense	possibly damaging	0.66
IGL01617:Kif21a	APN	15	90,995,637 (GRCm38)	splice site	probably benign
IGL01736:Kif21a	APN	15	90,959,745 (GRCm38)	missense	possibly damaging	0.59
IGL01923:Kif21a	APN	15	90,956,430 (GRCm38)	missense	probably damaging	0.96
IGL01985:Kif21a	APN	15	90,991,767 (GRCm38)	missense	probably damaging	1.00
IGL02304:Kif21a	APN	15	90,965,535 (GRCm38)	missense	probably damaging	1.00
IGL02589:Kif21a	APN	15	90,985,286 (GRCm38)	missense	probably damaging	1.00
IGL03115:Kif21a	APN	15	90,985,395 (GRCm38)	missense	probably damaging	0.99
IGL03211:Kif21a	APN	15	90,997,963 (GRCm38)	missense	possibly damaging	0.73
IGL03372:Kif21a	APN	15	90,956,376 (GRCm38)	missense	probably benign	0.38
reflex	UTSW	15	90,968,358 (GRCm38)	missense	probably null	1.00
R0052:Kif21a	UTSW	15	90,970,857 (GRCm38)	missense	probably damaging	0.98
R0052:Kif21a	UTSW	15	90,970,857 (GRCm38)	missense	probably damaging	0.98
R0304:Kif21a	UTSW	15	90,976,521 (GRCm38)	splice site	probably null
R0378:Kif21a	UTSW	15	90,969,774 (GRCm38)	splice site	probably null
R0420:Kif21a	UTSW	15	90,968,054 (GRCm38)	unclassified	probably benign
R0536:Kif21a	UTSW	15	90,959,683 (GRCm38)	splice site	probably benign
R0826:Kif21a	UTSW	15	90,997,541 (GRCm38)	critical splice donor site	probably null
R0971:Kif21a	UTSW	15	90,940,581 (GRCm38)	missense	possibly damaging	0.46
R1052:Kif21a	UTSW	15	90,935,650 (GRCm38)	missense	probably benign	0.17
R1168:Kif21a	UTSW	15	90,993,753 (GRCm38)	missense	probably damaging	1.00
R1324:Kif21a	UTSW	15	90,948,322 (GRCm38)	critical splice donor site	probably null
R1471:Kif21a	UTSW	15	90,956,419 (GRCm38)	missense	probably benign	0.04
R1625:Kif21a	UTSW	15	90,942,175 (GRCm38)	missense	probably damaging	1.00
R1636:Kif21a	UTSW	15	90,984,805 (GRCm38)	splice site	probably benign
R1647:Kif21a	UTSW	15	90,994,367 (GRCm38)	missense	probably damaging	1.00
R1648:Kif21a	UTSW	15	90,994,367 (GRCm38)	missense	probably damaging	1.00
R1699:Kif21a	UTSW	15	90,959,743 (GRCm38)	missense	probably damaging	0.99
R1703:Kif21a	UTSW	15	90,949,047 (GRCm38)	splice site	probably null
R1795:Kif21a	UTSW	15	90,972,727 (GRCm38)	splice site	probably null
R1812:Kif21a	UTSW	15	90,971,766 (GRCm38)	missense	possibly damaging	0.63
R1959:Kif21a	UTSW	15	90,970,848 (GRCm38)	missense	probably damaging	0.99
R1960:Kif21a	UTSW	15	90,970,848 (GRCm38)	missense	probably damaging	0.99
R1961:Kif21a	UTSW	15	90,970,848 (GRCm38)	missense	probably damaging	0.99
R1996:Kif21a	UTSW	15	90,994,371 (GRCm38)	nonsense	probably null
R2230:Kif21a	UTSW	15	90,985,362 (GRCm38)	nonsense	probably null
R2231:Kif21a	UTSW	15	90,985,362 (GRCm38)	nonsense	probably null
R2232:Kif21a	UTSW	15	90,985,362 (GRCm38)	nonsense	probably null
R2424:Kif21a	UTSW	15	90,971,196 (GRCm38)	missense	probably damaging	1.00
R2429:Kif21a	UTSW	15	90,998,005 (GRCm38)	missense	probably damaging	1.00
R2513:Kif21a	UTSW	15	90,994,391 (GRCm38)	missense	possibly damaging	0.96
R2846:Kif21a	UTSW	15	90,934,464 (GRCm38)	missense	probably benign
R3027:Kif21a	UTSW	15	90,972,642 (GRCm38)	missense	probably damaging	0.99
R3624:Kif21a	UTSW	15	90,965,595 (GRCm38)	missense	probably damaging	0.99
R3820:Kif21a	UTSW	15	90,968,074 (GRCm38)	missense	probably benign	0.17
R3923:Kif21a	UTSW	15	90,937,294 (GRCm38)	missense	possibly damaging	0.46
R3962:Kif21a	UTSW	15	90,985,409 (GRCm38)	missense	probably damaging	1.00
R4355:Kif21a	UTSW	15	90,970,833 (GRCm38)	missense	probably benign	0.17
R4516:Kif21a	UTSW	15	90,971,142 (GRCm38)	missense	probably benign	0.38
R4530:Kif21a	UTSW	15	90,968,089 (GRCm38)	splice site	probably null
R4612:Kif21a	UTSW	15	90,968,223 (GRCm38)	splice site	probably null
R4674:Kif21a	UTSW	15	90,940,545 (GRCm38)	missense	possibly damaging	0.66
R4675:Kif21a	UTSW	15	90,940,545 (GRCm38)	missense	possibly damaging	0.66
R4698:Kif21a	UTSW	15	90,956,305 (GRCm38)	missense	possibly damaging	0.85
R4712:Kif21a	UTSW	15	90,984,755 (GRCm38)	missense	probably damaging	1.00
R4955:Kif21a	UTSW	15	90,937,190 (GRCm38)	missense	probably damaging	1.00
R4974:Kif21a	UTSW	15	90,949,010 (GRCm38)	missense	probably benign	0.16
R5034:Kif21a	UTSW	15	90,968,358 (GRCm38)	missense	probably null	1.00
R5165:Kif21a	UTSW	15	90,956,376 (GRCm38)	missense	probably benign	0.38
R5464:Kif21a	UTSW	15	90,993,855 (GRCm38)	missense	probably damaging	1.00
R5757:Kif21a	UTSW	15	90,951,345 (GRCm38)	missense	probably damaging	1.00
R5936:Kif21a	UTSW	15	90,935,647 (GRCm38)	missense	possibly damaging	0.95
R5976:Kif21a	UTSW	15	90,935,812 (GRCm38)	missense	probably damaging	1.00
R6074:Kif21a	UTSW	15	90,980,892 (GRCm38)	missense	probably benign
R6638:Kif21a	UTSW	15	90,966,407 (GRCm38)	missense	probably damaging	1.00
R6723:Kif21a	UTSW	15	90,940,446 (GRCm38)	missense	probably damaging	0.97
R6785:Kif21a	UTSW	15	90,935,730 (GRCm38)	missense	probably damaging	1.00
R6977:Kif21a	UTSW	15	90,980,837 (GRCm38)	missense	probably damaging	1.00
R7058:Kif21a	UTSW	15	90,948,903 (GRCm38)	splice site	probably null
R7147:Kif21a	UTSW	15	90,980,883 (GRCm38)	missense	probably benign	0.13
R7290:Kif21a	UTSW	15	90,967,229 (GRCm38)	nonsense	probably null
R7438:Kif21a	UTSW	15	90,993,796 (GRCm38)	missense	probably benign	0.37
R7593:Kif21a	UTSW	15	90,943,861 (GRCm38)	missense	probably benign	0.03
R7661:Kif21a	UTSW	15	90,980,919 (GRCm38)	missense	possibly damaging	0.89
R7891:Kif21a	UTSW	15	90,956,314 (GRCm38)	missense	probably damaging	1.00
R8137:Kif21a	UTSW	15	90,968,442 (GRCm38)	missense	probably benign
R8182:Kif21a	UTSW	15	90,935,761 (GRCm38)	missense	possibly damaging	0.77
R8303:Kif21a	UTSW	15	90,971,196 (GRCm38)	missense	probably damaging	0.99
R8388:Kif21a	UTSW	15	90,959,124 (GRCm38)	missense	possibly damaging	0.60
R8867:Kif21a	UTSW	15	90,968,179 (GRCm38)	missense	probably damaging	0.96
R8921:Kif21a	UTSW	15	90,971,727 (GRCm38)	missense	probably benign	0.04
R8984:Kif21a	UTSW	15	90,956,356 (GRCm38)	missense	probably benign	0.00
R9024:Kif21a	UTSW	15	90,937,196 (GRCm38)	nonsense	probably null
R9254:Kif21a	UTSW	15	90,969,827 (GRCm38)	missense	probably damaging	0.99
R9366:Kif21a	UTSW	15	90,959,748 (GRCm38)	missense	probably damaging	0.99
R9379:Kif21a	UTSW	15	90,969,827 (GRCm38)	missense	probably damaging	0.99
R9393:Kif21a	UTSW	15	90,969,778 (GRCm38)	missense	probably benign	0.00
R9518:Kif21a	UTSW	15	90,956,473 (GRCm38)	missense	probably damaging	1.00
R9712:Kif21a	UTSW	15	90,995,512 (GRCm38)	missense	probably benign	0.13
R9712:Kif21a	UTSW	15	90,985,325 (GRCm38)	missense	probably damaging	0.98
R9721:Kif21a	UTSW	15	90,971,127 (GRCm38)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TCCAAGAAACAACTGTGGGGC -3'
(R):5'- ATGACATTATTGGGTGTGTGCAATC -3'

Sequencing Primer
(F):5'- TAAATGCTTGCCTGAAACTGGGC -3'
(R):5'- TATTGGGTGTGTGCAATCAAAGAAAG -3'

Posted On

2016-10-24