Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01985:Kif21a'

181869

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01985

Quality Score

Status

Chromosome

Chromosomal Location

90817479-90934151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90875970 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 321 (V321D)

Ref Sequence

ENSEMBL: ENSMUSP00000104911 (fasta)

Gene Model

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

AlphaFold

Q9QXL2

Predicted Effect

probably damaging
Transcript: ENSMUST00000067205
AA Change: V321D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: V321D

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 damaging
Transcript: ENSMUST00000088614
AA Change: V321D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: V321D

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 damaging
Transcript: ENSMUST00000100304
AA Change: V321D

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: V321D

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: V321D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: V321D

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 damaging
Transcript: ENSMUST00000109288
AA Change: V321D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: V321D

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

Coding Region Coverage

Validation Efficiency

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AAdacl4fm3	G	A	4: 144,442,024 (GRCm39)	Q76*	probably null	Het
Cass4	A	C	2: 172,269,126 (GRCm39)	S403R	probably damaging	Het
Ccdc175	A	T	12: 72,175,052 (GRCm39)	Y540*	probably null	Het
Cep164	C	T	9: 45,690,904 (GRCm39)	E1266K	probably damaging	Het
Clec12b	T	A	6: 129,359,334 (GRCm39)		probably benign	Het
Col6a5	T	C	9: 105,814,482 (GRCm39)	K510R	unknown	Het
Crisp4	G	A	1: 18,204,289 (GRCm39)	P101S	probably damaging	Het
Dapk1	T	C	13: 60,884,074 (GRCm39)	L614P	probably damaging	Het
Dip2c	T	C	13: 9,603,303 (GRCm39)		probably benign	Het
Dock7	A	G	4: 98,911,614 (GRCm39)	F589L	probably benign	Het
Dvl2	T	A	11: 69,899,119 (GRCm39)	V459E	probably damaging	Het
E2f6	T	C	12: 16,869,064 (GRCm39)		probably null	Het
Exph5	T	C	9: 53,287,869 (GRCm39)	L1650P	probably damaging	Het
Farp2	A	G	1: 93,535,324 (GRCm39)	Y691C	probably damaging	Het
Fshb	T	C	2: 106,889,173 (GRCm39)	T44A	probably benign	Het
Gm28044	T	A	13: 67,495,958 (GRCm39)	K28*	probably null	Het
Il12b	G	A	11: 44,298,881 (GRCm39)	W112*	probably null	Het
Ino80	T	C	2: 119,263,802 (GRCm39)	T621A	probably damaging	Het
Irx5	T	A	8: 93,086,155 (GRCm39)		probably benign	Het
Jmy	T	C	13: 93,596,144 (GRCm39)	H495R	possibly damaging	Het
Lrrc10	T	A	10: 116,881,921 (GRCm39)	D198E	probably damaging	Het
Lrsam1	T	C	2: 32,818,103 (GRCm39)	E651G	probably benign	Het
Mtarc1	A	G	1: 184,519,931 (GRCm39)	V230A	probably damaging	Het
Mylk4	T	A	13: 32,901,564 (GRCm39)	I475L	possibly damaging	Het
Myom3	G	A	4: 135,493,013 (GRCm39)		probably null	Het
Or5ac19	A	T	16: 59,089,442 (GRCm39)	V196E	probably benign	Het
Pah	G	A	10: 87,414,844 (GRCm39)	V399M	probably damaging	Het
Pik3r4	G	A	9: 105,540,244 (GRCm39)	E711K	probably benign	Het
Rbbp6	A	G	7: 122,570,296 (GRCm39)	K38E	probably damaging	Het
Ror1	G	A	4: 100,283,161 (GRCm39)	V409M	possibly damaging	Het
Slc6a11	T	A	6: 114,111,853 (GRCm39)	V140D	probably benign	Het
Srebf2	G	T	15: 82,076,560 (GRCm39)	A737S	probably benign	Het
Tcerg1	A	G	18: 42,663,721 (GRCm39)	T303A	unknown	Het
Tmem74	A	T	15: 43,730,476 (GRCm39)	I189N	probably damaging	Het
Tnr	A	G	1: 159,746,607 (GRCm39)	D1242G	possibly damaging	Het
U2surp	A	T	9: 95,372,279 (GRCm39)	F293L	probably damaging	Het
Uchl5	G	A	1: 143,661,864 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,402,565 (GRCm39)	C2472S	probably damaging	Het
Usp42	G	A	5: 143,700,940 (GRCm39)	R1028W	probably damaging	Het
Vmn2r10	A	G	5: 109,154,125 (GRCm39)	S60P	probably benign	Het
Vmn2r31	G	T	7: 7,397,510 (GRCm39)	D249E	probably benign	Het
Vnn1	C	T	10: 23,776,642 (GRCm39)	T331I	probably benign	Het
Zmym6	G	T	4: 126,994,541 (GRCm39)	V232F	probably damaging	Het

Other mutations in Kif21a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00539:Kif21a	APN	15	90,821,504 (GRCm39)	missense	probably damaging	1.00
IGL01476:Kif21a	APN	15	90,828,067 (GRCm39)	missense	possibly damaging	0.66
IGL01617:Kif21a	APN	15	90,879,840 (GRCm39)	splice site	probably benign
IGL01736:Kif21a	APN	15	90,843,948 (GRCm39)	missense	possibly damaging	0.59
IGL01923:Kif21a	APN	15	90,840,633 (GRCm39)	missense	probably damaging	0.96
IGL02304:Kif21a	APN	15	90,849,738 (GRCm39)	missense	probably damaging	1.00
IGL02589:Kif21a	APN	15	90,869,489 (GRCm39)	missense	probably damaging	1.00
IGL03115:Kif21a	APN	15	90,869,598 (GRCm39)	missense	probably damaging	0.99
IGL03211:Kif21a	APN	15	90,882,166 (GRCm39)	missense	possibly damaging	0.73
IGL03372:Kif21a	APN	15	90,840,579 (GRCm39)	missense	probably benign	0.38
reflex	UTSW	15	90,852,561 (GRCm39)	missense	probably null	1.00
R0052:Kif21a	UTSW	15	90,855,060 (GRCm39)	missense	probably damaging	0.98
R0052:Kif21a	UTSW	15	90,855,060 (GRCm39)	missense	probably damaging	0.98
R0304:Kif21a	UTSW	15	90,860,724 (GRCm39)	splice site	probably null
R0378:Kif21a	UTSW	15	90,853,977 (GRCm39)	splice site	probably null
R0420:Kif21a	UTSW	15	90,852,257 (GRCm39)	unclassified	probably benign
R0536:Kif21a	UTSW	15	90,843,886 (GRCm39)	splice site	probably benign
R0826:Kif21a	UTSW	15	90,881,744 (GRCm39)	critical splice donor site	probably null
R0971:Kif21a	UTSW	15	90,824,784 (GRCm39)	missense	possibly damaging	0.46
R1052:Kif21a	UTSW	15	90,819,853 (GRCm39)	missense	probably benign	0.17
R1168:Kif21a	UTSW	15	90,877,956 (GRCm39)	missense	probably damaging	1.00
R1324:Kif21a	UTSW	15	90,832,525 (GRCm39)	critical splice donor site	probably null
R1471:Kif21a	UTSW	15	90,840,622 (GRCm39)	missense	probably benign	0.04
R1625:Kif21a	UTSW	15	90,826,378 (GRCm39)	missense	probably damaging	1.00
R1636:Kif21a	UTSW	15	90,869,008 (GRCm39)	splice site	probably benign
R1647:Kif21a	UTSW	15	90,878,570 (GRCm39)	missense	probably damaging	1.00
R1648:Kif21a	UTSW	15	90,878,570 (GRCm39)	missense	probably damaging	1.00
R1699:Kif21a	UTSW	15	90,843,946 (GRCm39)	missense	probably damaging	0.99
R1703:Kif21a	UTSW	15	90,833,250 (GRCm39)	splice site	probably null
R1795:Kif21a	UTSW	15	90,856,930 (GRCm39)	splice site	probably null
R1812:Kif21a	UTSW	15	90,855,969 (GRCm39)	missense	possibly damaging	0.63
R1959:Kif21a	UTSW	15	90,855,051 (GRCm39)	missense	probably damaging	0.99
R1960:Kif21a	UTSW	15	90,855,051 (GRCm39)	missense	probably damaging	0.99
R1961:Kif21a	UTSW	15	90,855,051 (GRCm39)	missense	probably damaging	0.99
R1996:Kif21a	UTSW	15	90,878,574 (GRCm39)	nonsense	probably null
R2230:Kif21a	UTSW	15	90,869,565 (GRCm39)	nonsense	probably null
R2231:Kif21a	UTSW	15	90,869,565 (GRCm39)	nonsense	probably null
R2232:Kif21a	UTSW	15	90,869,565 (GRCm39)	nonsense	probably null
R2424:Kif21a	UTSW	15	90,855,399 (GRCm39)	missense	probably damaging	1.00
R2429:Kif21a	UTSW	15	90,882,208 (GRCm39)	missense	probably damaging	1.00
R2513:Kif21a	UTSW	15	90,878,594 (GRCm39)	missense	possibly damaging	0.96
R2846:Kif21a	UTSW	15	90,818,667 (GRCm39)	missense	probably benign
R3027:Kif21a	UTSW	15	90,856,845 (GRCm39)	missense	probably damaging	0.99
R3624:Kif21a	UTSW	15	90,849,798 (GRCm39)	missense	probably damaging	0.99
R3820:Kif21a	UTSW	15	90,852,277 (GRCm39)	missense	probably benign	0.17
R3923:Kif21a	UTSW	15	90,821,497 (GRCm39)	missense	possibly damaging	0.46
R3962:Kif21a	UTSW	15	90,869,612 (GRCm39)	missense	probably damaging	1.00
R4355:Kif21a	UTSW	15	90,855,036 (GRCm39)	missense	probably benign	0.17
R4516:Kif21a	UTSW	15	90,855,345 (GRCm39)	missense	probably benign	0.38
R4530:Kif21a	UTSW	15	90,852,292 (GRCm39)	splice site	probably null
R4612:Kif21a	UTSW	15	90,852,426 (GRCm39)	splice site	probably null
R4674:Kif21a	UTSW	15	90,824,748 (GRCm39)	missense	possibly damaging	0.66
R4675:Kif21a	UTSW	15	90,824,748 (GRCm39)	missense	possibly damaging	0.66
R4698:Kif21a	UTSW	15	90,840,508 (GRCm39)	missense	possibly damaging	0.85
R4712:Kif21a	UTSW	15	90,868,958 (GRCm39)	missense	probably damaging	1.00
R4955:Kif21a	UTSW	15	90,821,393 (GRCm39)	missense	probably damaging	1.00
R4974:Kif21a	UTSW	15	90,833,213 (GRCm39)	missense	probably benign	0.16
R5034:Kif21a	UTSW	15	90,852,561 (GRCm39)	missense	probably null	1.00
R5165:Kif21a	UTSW	15	90,840,579 (GRCm39)	missense	probably benign	0.38
R5464:Kif21a	UTSW	15	90,878,058 (GRCm39)	missense	probably damaging	1.00
R5541:Kif21a	UTSW	15	90,852,316 (GRCm39)	missense	probably damaging	0.99
R5757:Kif21a	UTSW	15	90,835,548 (GRCm39)	missense	probably damaging	1.00
R5936:Kif21a	UTSW	15	90,819,850 (GRCm39)	missense	possibly damaging	0.95
R5976:Kif21a	UTSW	15	90,820,015 (GRCm39)	missense	probably damaging	1.00
R6074:Kif21a	UTSW	15	90,865,095 (GRCm39)	missense	probably benign
R6638:Kif21a	UTSW	15	90,850,610 (GRCm39)	missense	probably damaging	1.00
R6723:Kif21a	UTSW	15	90,824,649 (GRCm39)	missense	probably damaging	0.97
R6785:Kif21a	UTSW	15	90,819,933 (GRCm39)	missense	probably damaging	1.00
R6977:Kif21a	UTSW	15	90,865,040 (GRCm39)	missense	probably damaging	1.00
R7058:Kif21a	UTSW	15	90,833,106 (GRCm39)	splice site	probably null
R7147:Kif21a	UTSW	15	90,865,086 (GRCm39)	missense	probably benign	0.13
R7290:Kif21a	UTSW	15	90,851,432 (GRCm39)	nonsense	probably null
R7438:Kif21a	UTSW	15	90,877,999 (GRCm39)	missense	probably benign	0.37
R7593:Kif21a	UTSW	15	90,828,064 (GRCm39)	missense	probably benign	0.03
R7661:Kif21a	UTSW	15	90,865,122 (GRCm39)	missense	possibly damaging	0.89
R7891:Kif21a	UTSW	15	90,840,517 (GRCm39)	missense	probably damaging	1.00
R8137:Kif21a	UTSW	15	90,852,645 (GRCm39)	missense	probably benign
R8182:Kif21a	UTSW	15	90,819,964 (GRCm39)	missense	possibly damaging	0.77
R8303:Kif21a	UTSW	15	90,855,399 (GRCm39)	missense	probably damaging	0.99
R8388:Kif21a	UTSW	15	90,843,327 (GRCm39)	missense	possibly damaging	0.60
R8867:Kif21a	UTSW	15	90,852,382 (GRCm39)	missense	probably damaging	0.96
R8921:Kif21a	UTSW	15	90,855,930 (GRCm39)	missense	probably benign	0.04
R8984:Kif21a	UTSW	15	90,840,559 (GRCm39)	missense	probably benign	0.00
R9024:Kif21a	UTSW	15	90,821,399 (GRCm39)	nonsense	probably null
R9254:Kif21a	UTSW	15	90,854,030 (GRCm39)	missense	probably damaging	0.99
R9366:Kif21a	UTSW	15	90,843,951 (GRCm39)	missense	probably damaging	0.99
R9379:Kif21a	UTSW	15	90,854,030 (GRCm39)	missense	probably damaging	0.99
R9393:Kif21a	UTSW	15	90,853,981 (GRCm39)	missense	probably benign	0.00
R9518:Kif21a	UTSW	15	90,840,676 (GRCm39)	missense	probably damaging	1.00
R9712:Kif21a	UTSW	15	90,879,715 (GRCm39)	missense	probably benign	0.13
R9712:Kif21a	UTSW	15	90,869,528 (GRCm39)	missense	probably damaging	0.98
R9721:Kif21a	UTSW	15	90,855,330 (GRCm39)	missense	probably damaging	0.99

Posted On

2014-05-07