Mutagenetix > Incidental Mutation

Incidental Mutation 'R5165:Kif21a'

395671

Institutional Source

Beutler Lab

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

MMRRC Submission

042746-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5165 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

90817479-90934151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 90840579 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 1179 (M1179K)

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: M1186K

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

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: M1186K

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: M1199K

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: M1199K

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: M1199K

PolyPhen 2 Score 0.085 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: M1199K

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: M1186K

PolyPhen 2 Score 0.174 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: M1186K

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: M1179K

PolyPhen 2 Score 0.382 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: M1179K

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
AA Change: M161K

PolyPhen 2 Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000229864

Meta Mutation Damage Score

0.0843

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.9%
20x: 94.3%

Validation Efficiency

98% (58/59)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actg2	T	A	6: 83,503,814 (GRCm39)	I77F	probably benign	Het
Actl6a	G	A	3: 32,774,357 (GRCm39)	V285I	probably benign	Het
Adam9	A	T	8: 25,457,190 (GRCm39)	I646N	possibly damaging	Het
Ahnak	T	C	19: 8,993,029 (GRCm39)	I4771T	possibly damaging	Het
Alas1	T	C	9: 106,118,454 (GRCm39)	T223A	probably damaging	Het
Apc2	A	G	10: 80,151,684 (GRCm39)	E2246G	probably damaging	Het
Atp1a1	A	G	3: 101,489,105 (GRCm39)	I795T	probably benign	Het
Ccn3	A	G	15: 54,612,585 (GRCm39)	D198G	probably damaging	Het
Cdhr4	T	C	9: 107,874,829 (GRCm39)	L633P	probably damaging	Het
Cep350	A	G	1: 155,804,114 (GRCm39)	S990P	probably damaging	Het
Cplx2	A	G	13: 54,526,789 (GRCm39)	I66V	possibly damaging	Het
Cx3cl1	T	C	8: 95,506,504 (GRCm39)	S170P	probably benign	Het
Cyth1	T	C	11: 118,059,908 (GRCm39)	N353S	possibly damaging	Het
Dapp1	T	C	3: 137,644,976 (GRCm39)		probably null	Het
Dmwd	G	A	7: 18,811,960 (GRCm39)		probably benign	Het
Dsg1c	A	G	18: 20,410,080 (GRCm39)	H516R	probably damaging	Het
Efemp2	T	C	19: 5,525,439 (GRCm39)	C39R	probably damaging	Het
Fnbp4	C	G	2: 90,608,001 (GRCm39)	Q908E	possibly damaging	Het
Foxred2	A	G	15: 77,840,212 (GRCm39)	V26A	probably damaging	Het
Gkap1	A	G	13: 58,411,010 (GRCm39)		probably null	Het
Gstcd	A	C	3: 132,790,440 (GRCm39)	V109G	probably damaging	Het
Hoxc9	T	A	15: 102,892,432 (GRCm39)	M215K	probably damaging	Het
Igkv4-80	A	C	6: 68,993,649 (GRCm39)	S81A	probably benign	Het
Kcnj9	A	T	1: 172,150,724 (GRCm39)	D296E	probably benign	Het
Kctd18	T	C	1: 57,998,395 (GRCm39)	Y68C	probably damaging	Het
Lrfn5	T	C	12: 61,886,410 (GRCm39)	I66T	possibly damaging	Het
Lrp12	A	G	15: 39,735,857 (GRCm39)	S692P	probably benign	Het
Lrrc10	A	T	10: 116,881,965 (GRCm39)	N213I	probably benign	Het
Nceh1	G	A	3: 27,295,677 (GRCm39)	V313I	probably benign	Het
Nkx6-3	T	A	8: 23,643,759 (GRCm39)	H53Q	probably damaging	Het
Ntmt2	A	G	1: 163,550,092 (GRCm39)	I53T	probably benign	Het
Or14j7	A	G	17: 38,235,252 (GRCm39)	D265G	probably benign	Het
Or2y16	A	G	11: 49,335,203 (GRCm39)	H175R	probably damaging	Het
Or4f53	T	A	2: 111,087,568 (GRCm39)	V36E	possibly damaging	Het
Or5b97	A	T	19: 12,878,564 (GRCm39)	N193K	probably benign	Het
Oxct1	A	T	15: 4,083,251 (GRCm39)	T157S	possibly damaging	Het
Pcdhga3	A	G	18: 37,808,723 (GRCm39)	E392G	possibly damaging	Het
Polr1a	T	G	6: 71,944,909 (GRCm39)	Y1322D	probably damaging	Het
Prkdc	T	A	16: 15,496,136 (GRCm39)	S776T	probably damaging	Het
Ralgapb	A	G	2: 158,307,832 (GRCm39)	I1047V	possibly damaging	Het
Sertad4	A	T	1: 192,529,130 (GRCm39)	S229T	possibly damaging	Het
Shank2	T	A	7: 143,963,373 (GRCm39)	V327D	possibly damaging	Het
Skint6	A	T	4: 112,722,865 (GRCm39)	V904E	possibly damaging	Het
Slfn8	A	T	11: 82,907,953 (GRCm39)	Y197N	probably damaging	Het
Smo	T	A	6: 29,736,077 (GRCm39)	L23Q	unknown	Het
Snx29	T	A	16: 11,238,639 (GRCm39)	M23K	probably damaging	Het
Synrg	T	C	11: 83,881,761 (GRCm39)	S366P	probably benign	Het
Tomm40	A	G	7: 19,447,592 (GRCm39)		probably null	Het
Tpcn1	T	C	5: 120,696,010 (GRCm39)	E81G	probably damaging	Het
Trappc1	A	G	11: 69,215,060 (GRCm39)	Q26R	probably benign	Het
Ttn	T	A	2: 76,606,900 (GRCm39)		probably null	Het
Usp25	T	A	16: 76,873,293 (GRCm39)	D450E	possibly damaging	Het
Zmynd19	T	A	2: 24,848,201 (GRCm39)	Y132*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GGGCCAACAGTACCTAACAG -3'
(R):5'- GTTCCTCAATCAAGTTTCGTGC -3'

Sequencing Primer
(F):5'- TGACTTTGAAAACCAGAGATTGAG -3'
(R):5'- CCTACGCTGGCTTCTCATTG -3'

Posted On

2016-06-21