Mutagenetix > Incidental Mutation

Incidental Mutation 'R8182:Kif21a'

634700

Institutional Source

Beutler Lab

Gene Symbol

Kif21a

Ensembl Gene

ENSMUSG00000022629

Gene Name

kinesin family member 21A

Synonyms

N-5 kinesin

MMRRC Submission

067606-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R8182 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

90817479-90934151 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 90819964 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glycine to Aspartic acid at position 1556 (G1556D)

Ref Sequence

ENSEMBL: ENSMUSP00000066911 (fasta)

Gene Model

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

AlphaFold

Q9QXL2

Predicted Effect

possibly damaging
Transcript: ENSMUST00000067205
AA Change: G1556D

PolyPhen 2 Score 0.773 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000066911
Gene: ENSMUSG00000022629
AA Change: G1556D

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: G1600D

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000085985
Gene: ENSMUSG00000022629
AA Change: G1600D

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: G1600D

PolyPhen 2 Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000097877
Gene: ENSMUSG00000022629
AA Change: G1600D

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: G1495D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104910
Gene: ENSMUSG00000022629
AA Change: G1495D

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: G1501D

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104911
Gene: ENSMUSG00000022629
AA Change: G1501D

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

98% (48/49)

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adprhl1	A	G	8: 13,272,774 (GRCm39)	V1328A	probably benign	Het
Akna	T	C	4: 63,313,034 (GRCm39)	Y363C	probably damaging	Het
Aph1c	A	G	9: 66,740,549 (GRCm39)	I59T	possibly damaging	Het
Bbs7	A	T	3: 36,664,372 (GRCm39)	F100I	probably damaging	Het
Cibar1	T	C	4: 12,171,842 (GRCm39)	H30R	probably benign	Het
Eef2k	G	A	7: 120,472,626 (GRCm39)	R113Q	probably damaging	Het
Fam221b	G	A	4: 43,660,342 (GRCm39)	R416C	probably damaging	Het
Fam98b	C	A	2: 117,080,302 (GRCm39)	D18E	probably damaging	Het
Fat2	T	A	11: 55,175,223 (GRCm39)	Y1830F	possibly damaging	Het
Fbrsl1	T	A	5: 110,526,861 (GRCm39)	Q221L	possibly damaging	Het
Fbxo4	T	C	15: 3,998,451 (GRCm39)	R336G	probably damaging	Het
Fbxw15	A	T	9: 109,384,778 (GRCm39)	C341S	probably benign	Het
Fip1l1	T	C	5: 74,748,813 (GRCm39)	S398P	probably damaging	Het
Fsip2	A	G	2: 82,806,951 (GRCm39)	D1090G	probably damaging	Het
Fyb1	T	A	15: 6,681,293 (GRCm39)	M706K	probably benign	Het
Glg1	A	T	8: 111,897,929 (GRCm39)	F747I	possibly damaging	Het
Gm8257	A	G	14: 44,887,623 (GRCm39)	L254P	probably benign	Het
Hnf4g	T	C	3: 3,716,679 (GRCm39)	Y283H	possibly damaging	Het
Irx6	C	A	8: 93,403,642 (GRCm39)	Y122*	probably null	Het
Jph4	C	T	14: 55,347,213 (GRCm39)	G445R	possibly damaging	Het
Kif16b	G	T	2: 142,554,819 (GRCm39)	R660S	possibly damaging	Het
Kif3a	T	A	11: 53,485,133 (GRCm39)	Y531*	probably null	Het
Lrp2	T	C	2: 69,319,673 (GRCm39)	D1950G	probably damaging	Het
Med23	T	G	10: 24,788,705 (GRCm39)	S1371A	probably benign	Het
Mef2a	T	A	7: 66,917,875 (GRCm39)	E112D	probably benign	Het
Mxra8	C	G	4: 155,925,589 (GRCm39)	Y99*	probably null	Het
Nbeal1	A	G	1: 60,239,292 (GRCm39)	T112A	probably benign	Het
Or8b49	G	A	9: 38,505,840 (GRCm39)	V108I	probably benign	Het
Pclo	G	A	5: 14,905,634 (GRCm39)	E4955K	unknown	Het
Poc1b	T	C	10: 98,991,005 (GRCm39)		probably null	Het
Ptbp2	A	G	3: 119,534,078 (GRCm39)	Y264H	probably damaging	Het
Rhobtb2	A	G	14: 70,034,070 (GRCm39)	V385A	probably benign	Het
Rlf	G	A	4: 121,008,102 (GRCm39)	P403S	possibly damaging	Het
Rnase9	T	C	14: 51,276,537 (GRCm39)	N147S	probably benign	Het
Serpinb9f	A	G	13: 33,518,603 (GRCm39)	I368V	probably benign	Het
Slc1a1	A	T	19: 28,878,848 (GRCm39)	T196S	probably benign	Het
Smarca2	A	G	19: 26,608,120 (GRCm39)	S60G	probably benign	Het
Tbc1d4	A	T	14: 101,744,990 (GRCm39)	V212E	probably damaging	Het
Thap12	T	A	7: 98,365,584 (GRCm39)	I584N	probably damaging	Het
Ube3b	T	A	5: 114,530,199 (GRCm39)	N195K	possibly damaging	Het
Upk3b	T	C	5: 136,067,982 (GRCm39)	C58R	probably damaging	Het
Ush1c	A	G	7: 45,847,775 (GRCm39)		probably null	Het
Vmn1r60	T	C	7: 5,547,876 (GRCm39)	T75A		Het
Vmn2r77	T	A	7: 86,460,801 (GRCm39)	L709H	probably damaging	Het
Wdcp	T	C	12: 4,901,850 (GRCm39)	S569P	probably damaging	Het
Zfp418	A	T	7: 7,184,658 (GRCm39)	N207I	probably benign	Het
Zfp764l1	C	T	7: 126,992,496 (GRCm39)	C38Y	probably null	Het
Zfp808	G	A	13: 62,319,521 (GRCm39)	C250Y	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
R8137:Kif21a	UTSW	15	90,852,645 (GRCm39)	missense	probably benign
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'- CTGGTGAGTACTTATGGCCTGC -3'
(R):5'- TGGACTTGGATAACTTTAAGGACG -3'

Sequencing Primer
(F):5'- TTGAAGTCTGAGTACTAGCAACCC -3'
(R):5'- AAGGACGTTCTGTATTCCTCATACTG -3'

Posted On

2020-07-13