Mutagenetix > Incidental Mutation

Incidental Mutation 'R8137:Kif21a'

632322

Institutional Source

Beutler Lab

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

MMRRC Submission

067565-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8137 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

90817479-90934151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 90852645 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 862 (T862A)

Ref Sequence

ENSEMBL: ENSMUSP00000104911 (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: T862A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: T862A

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: T875A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: T875A

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: T875A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: T875A

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 benign
Transcript: ENSMUST00000109287
AA Change: T862A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: T862A

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: T862A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: T862A

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

Coding Region Coverage

1x: 99.8%
3x: 99.6%
10x: 98.8%
20x: 96.4%

Validation Efficiency

100% (56/56)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ankfn1	T	G	11: 89,344,003 (GRCm39)	Q326H	probably benign	Het
Carf	G	A	1: 60,187,124 (GRCm39)	V576I	probably benign	Het
Ccnl1	C	T	3: 65,865,291 (GRCm39)	D87N	possibly damaging	Het
Cgref1	T	A	5: 31,091,749 (GRCm39)	D111V	possibly damaging	Het
Cnot4	G	A	6: 35,023,222 (GRCm39)	P567S	unknown	Het
Cyp7b1	A	T	3: 18,151,765 (GRCm39)	D149E	probably benign	Het
Dcc	A	T	18: 71,511,783 (GRCm39)	D877E	probably benign	Het
Dhx8	T	A	11: 101,654,808 (GRCm39)	I1032N	probably damaging	Het
Dnah7b	A	G	1: 46,272,913 (GRCm39)	Y2347C	probably damaging	Het
Dtx3	A	G	10: 127,029,041 (GRCm39)	S63P	possibly damaging	Het
Dyrk2	C	T	10: 118,695,789 (GRCm39)	E490K	probably benign	Het
Fcgbp	A	C	7: 27,804,496 (GRCm39)	Y1868S	probably damaging	Het
Foxa2	T	C	2: 147,885,768 (GRCm39)	H355R	probably benign	Het
Fpr-rs7	A	G	17: 20,334,055 (GRCm39)	V145A	possibly damaging	Het
Gm14137	A	T	2: 119,005,837 (GRCm39)	E132V	probably benign	Het
Gpn2	T	C	4: 133,315,873 (GRCm39)	S211P	possibly damaging	Het
Greb1l	A	T	18: 10,474,357 (GRCm39)	Q224L	possibly damaging	Het
Gspt1	A	G	16: 11,058,532 (GRCm39)	V144A	probably benign	Het
Ifi204	A	G	1: 173,589,188 (GRCm39)	I81T	possibly damaging	Het
Il27ra	T	A	8: 84,767,720 (GRCm39)		probably null	Het
Klf2	T	C	8: 73,074,088 (GRCm39)		probably null	Het
Kmt2e	A	G	5: 23,706,952 (GRCm39)	Y1505C	probably damaging	Het
Mcm9	T	C	10: 53,499,076 (GRCm39)	T216A		Het
Muc16	T	C	9: 18,556,972 (GRCm39)	E3107G	unknown	Het
Ncor2	C	T	5: 125,114,957 (GRCm39)	V169I		Het
Oas3	T	C	5: 120,915,565 (GRCm39)	Q42R	probably benign	Het
Or2l5	A	G	16: 19,333,846 (GRCm39)	V180A	possibly damaging	Het
Or4p8	T	C	2: 88,727,013 (GRCm39)	*309W	probably null	Het
Pde10a	A	G	17: 9,193,647 (GRCm39)	Y693C	possibly damaging	Het
Pde11a	T	C	2: 76,041,383 (GRCm39)	E429G	possibly damaging	Het
Pramel23	A	G	4: 143,425,835 (GRCm39)	F36S	probably damaging	Het
Pygo1	A	G	9: 72,852,140 (GRCm39)	H109R	probably damaging	Het
Rbsn	A	T	6: 92,167,003 (GRCm39)	V547D	probably benign	Het
Ros1	A	G	10: 52,001,933 (GRCm39)	I1084T	possibly damaging	Het
Sis	T	C	3: 72,796,378 (GRCm39)	D1801G	probably benign	Het
Slco4c1	C	T	1: 96,748,970 (GRCm39)	G649E	probably damaging	Het
Spmip10	A	G	18: 56,727,653 (GRCm39)	D117G	probably damaging	Het
Sptbn2	A	T	19: 4,787,431 (GRCm39)	I914F	possibly damaging	Het
Srebf2	C	T	15: 82,062,966 (GRCm39)	R468C	probably damaging	Het
Strc	C	T	2: 121,197,219 (GRCm39)	G1503R	probably damaging	Het
Sv2c	T	A	13: 96,225,171 (GRCm39)	Y46F	probably damaging	Het
Tctn3	A	T	19: 40,593,785 (GRCm39)	W462R	probably damaging	Het
Tjp3	T	C	10: 81,109,525 (GRCm39)	D857G	probably benign	Het
Tor1aip2	C	T	1: 155,939,414 (GRCm39)	T242I	possibly damaging	Het
Ttn	T	A	2: 76,800,273 (GRCm39)	I312F	unknown	Het
Vezt	T	C	10: 93,775,154 (GRCm39)	N94D		Het
Vmn2r105	T	C	17: 20,454,966 (GRCm39)	N57D	probably benign	Het
Wdr59	T	C	8: 112,212,011 (GRCm39)	D353G		Het
Ykt6	T	C	11: 5,909,368 (GRCm39)	V59A	probably damaging	Het
Ypel3	T	G	7: 126,377,269 (GRCm39)	V54G	possibly damaging	Het
Zfp386	T	A	12: 116,023,268 (GRCm39)	C329S	possibly damaging	Het
Zfp451	A	T	1: 33,821,156 (GRCm39)	L232H	possibly damaging	Het
Zfp648	A	G	1: 154,081,110 (GRCm39)	H423R	probably damaging	Het
Zfp729b	T	C	13: 67,740,861 (GRCm39)	Y468C	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
IGL01985:Kif21a	APN	15	90,875,970 (GRCm39)	missense	probably damaging	1.00
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
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

Predicted Primers

Posted On

2020-06-30