Mutagenetix > Incidental Mutation

Incidental Mutation 'R3277:Kif2a'

258288

Institutional Source

Beutler Lab

Gene Symbol

Kif2a

Ensembl Gene

ENSMUSG00000021693

Gene Name

kinesin family member 2A

Synonyms

Kns2, M-kinesin, Kif2

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3277 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

107095504-107158634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107113264 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 455 (I455T)

Ref Sequence

ENSEMBL: ENSMUSP00000125644 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022204] [ENSMUST00000117423] [ENSMUST00000117539] [ENSMUST00000122233] [ENSMUST00000159772]

AlphaFold

P28740

Predicted Effect

probably damaging
Transcript: ENSMUST00000022204
AA Change: I455T

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

SMART Domains

Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: I455T

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
low complexity region	159	183	N/A	INTRINSIC
KISc	220	560	6.56e-147	SMART
low complexity region	613	625	N/A	INTRINSIC
coiled coil region	660	698	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117423
AA Change: I409T

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

SMART Domains

Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693
AA Change: I409T

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	113	137	N/A	INTRINSIC
KISc	174	514	6.56e-147	SMART
low complexity region	567	579	N/A	INTRINSIC
coiled coil region	614	652	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000117539
AA Change: I439T

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693
AA Change: I439T

Domain	Start	End	E-Value	Type
low complexity region	57	69	N/A	INTRINSIC
low complexity region	143	167	N/A	INTRINSIC
KISc	204	544	6.56e-147	SMART
low complexity region	597	609	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000122233
AA Change: I428T

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

SMART Domains

Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: I428T

Domain	Start	End	E-Value	Type
low complexity region	46	58	N/A	INTRINSIC
low complexity region	132	156	N/A	INTRINSIC
KISc	193	533	4.33e-147	SMART
low complexity region	542	556	N/A	INTRINSIC
low complexity region	624	636	N/A	INTRINSIC
coiled coil region	671	709	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000159772
AA Change: I455T

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

SMART Domains

Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: I455T

Domain	Start	End	E-Value	Type
low complexity region	73	85	N/A	INTRINSIC
low complexity region	159	183	N/A	INTRINSIC
KISc	220	560	4.33e-147	SMART
low complexity region	569	583	N/A	INTRINSIC
low complexity region	651	663	N/A	INTRINSIC
coiled coil region	698	736	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162845

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 97.1%
20x: 94.6%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a plus end-directed motor required for normal mitotic progression. The encoded protein is required for normal spindle activity during mitosis and is necessary for normal brain development. Several transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Sep 2011]
PHENOTYPE: Homozygous null mice display neonatal lethality, abnormal lamination of the cerebral cortex, hippocampus and cerebellum, impaired neuronal migration, and abnormal axon outgrowth. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,314,020 (GRCm39)	R553G	possibly damaging	Het
Adarb2	A	G	13: 8,802,663 (GRCm39)	N646S	probably damaging	Het
Adcy8	C	T	15: 64,571,008 (GRCm39)	G1242S	probably benign	Het
Ano9	T	A	7: 140,684,037 (GRCm39)	T543S	probably damaging	Het
Btnl10	A	G	11: 58,813,216 (GRCm39)	K282E	probably benign	Het
Btnl9	T	C	11: 49,060,503 (GRCm39)	D330G	probably damaging	Het
Ccdc178	G	T	18: 22,200,709 (GRCm39)	A416E	possibly damaging	Het
Cdx2	A	T	5: 147,240,002 (GRCm39)	S225T	probably benign	Het
Clca4b	T	C	3: 144,617,120 (GRCm39)	I843M	probably benign	Het
Cntn4	G	A	6: 106,414,925 (GRCm39)		probably null	Het
Cyp4f18	T	C	8: 72,747,044 (GRCm39)	D317G	possibly damaging	Het
Dennd4a	G	T	9: 64,796,275 (GRCm39)	R767L	probably damaging	Het
Dgkb	G	A	12: 38,134,216 (GRCm39)	V41M	probably damaging	Het
Duox1	T	C	2: 122,170,597 (GRCm39)	Y1206H	probably damaging	Het
Dync1i1	T	C	6: 5,972,211 (GRCm39)		probably null	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fcgbp	C	A	7: 27,791,086 (GRCm39)	H782Q	probably damaging	Het
Flg2	A	T	3: 93,122,195 (GRCm39)	Q1455L	unknown	Het
Frrs1	T	C	3: 116,692,873 (GRCm39)	F49S	probably damaging	Het
Gli3	A	T	13: 15,900,567 (GRCm39)	Q1318L	probably benign	Het
Gm5592	A	G	7: 40,937,804 (GRCm39)	E362G	probably benign	Het
Gm7104	A	T	12: 88,252,498 (GRCm39)		noncoding transcript	Het
Gpatch2l	A	G	12: 86,291,089 (GRCm39)	T91A	possibly damaging	Het
Hacd4	T	C	4: 88,355,747 (GRCm39)	H46R	probably damaging	Het
Herc2	T	C	7: 55,803,176 (GRCm39)	V2175A	probably benign	Het
Hey1	T	C	3: 8,729,951 (GRCm39)	S169G	probably benign	Het
Hivep2	C	A	10: 14,004,713 (GRCm39)	T437K	probably benign	Het
Hlf	T	C	11: 90,236,661 (GRCm39)	K199E	probably damaging	Het
Hpgd	C	A	8: 56,751,448 (GRCm39)	A92E	probably damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Itgad	C	A	7: 127,790,153 (GRCm39)	H651N	possibly damaging	Het
Itgav	A	G	2: 83,606,886 (GRCm39)	D409G	probably damaging	Het
Klk14	G	A	7: 43,341,501 (GRCm39)	C51Y	probably damaging	Het
Lamc3	G	T	2: 31,798,637 (GRCm39)	G448C	probably damaging	Het
Ltbp1	G	A	17: 75,583,475 (GRCm39)	G425D	possibly damaging	Het
Ltbp1	T	A	17: 75,666,273 (GRCm39)		probably null	Het
Mag	C	T	7: 30,601,073 (GRCm39)		probably null	Het
Mdh1b	G	A	1: 63,750,690 (GRCm39)	T426M	possibly damaging	Het
Nr1h4	G	A	10: 89,314,650 (GRCm39)	T282I	possibly damaging	Het
Nsf	C	T	11: 103,821,578 (GRCm39)	E26K	possibly damaging	Het
Or4c1	C	T	2: 89,133,562 (GRCm39)	V125M	possibly damaging	Het
Or52k2	T	C	7: 102,253,783 (GRCm39)	V74A	possibly damaging	Het
Or9s27	A	G	1: 92,516,535 (GRCm39)	N161S	probably benign	Het
Padi6	A	G	4: 140,462,700 (GRCm39)	L307P	probably damaging	Het
Parp9	T	C	16: 35,768,578 (GRCm39)	S20P	probably damaging	Het
Pdcd11	T	C	19: 47,101,703 (GRCm39)	F963L	probably damaging	Het
Pwp1	C	T	10: 85,717,943 (GRCm39)	L294F	probably benign	Het
Radil	A	G	5: 142,492,611 (GRCm39)	L339P	probably damaging	Het
Raver1	G	A	9: 20,990,573 (GRCm39)	P316S	possibly damaging	Het
Rell1	A	G	5: 64,084,330 (GRCm39)		probably null	Het
Rxrg	A	G	1: 167,463,269 (GRCm39)	D257G	possibly damaging	Het
Sema4c	C	T	1: 36,588,960 (GRCm39)	R722H	possibly damaging	Het
Sgk1	C	T	10: 21,872,500 (GRCm39)	R171W	probably damaging	Het
Spata7	A	G	12: 98,603,857 (GRCm39)	N75D	possibly damaging	Het
Ttc23l	A	G	15: 10,547,318 (GRCm39)	F99L	possibly damaging	Het
Unc13a	A	C	8: 72,082,339 (GRCm39)	C1642G	probably benign	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Wrn	A	G	8: 33,807,582 (GRCm39)	M292T	probably damaging	Het
Zfp423	A	G	8: 88,508,959 (GRCm39)	Y462H	probably damaging	Het
Zscan5b	T	A	7: 6,234,345 (GRCm39)	Y124N	possibly damaging	Het
Zswim9	T	C	7: 13,011,196 (GRCm39)	T51A	possibly damaging	Het

Other mutations in Kif2a

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00934:Kif2a	APN	13	107,105,301 (GRCm39)	splice site	probably benign
IGL01640:Kif2a	APN	13	107,111,060 (GRCm39)	missense	probably damaging	1.00
IGL02524:Kif2a	APN	13	107,100,863 (GRCm39)	missense	possibly damaging	0.82
R0088:Kif2a	UTSW	13	107,111,940 (GRCm39)	missense	probably damaging	1.00
R0276:Kif2a	UTSW	13	107,113,158 (GRCm39)	splice site	probably benign
R1233:Kif2a	UTSW	13	107,123,840 (GRCm39)	missense	probably damaging	1.00
R1345:Kif2a	UTSW	13	107,130,423 (GRCm39)	missense	probably damaging	0.99
R1772:Kif2a	UTSW	13	107,114,640 (GRCm39)	intron	probably benign
R1900:Kif2a	UTSW	13	107,113,503 (GRCm39)	missense	possibly damaging	0.46
R1932:Kif2a	UTSW	13	107,114,599 (GRCm39)	missense	probably benign	0.00
R2364:Kif2a	UTSW	13	107,113,344 (GRCm39)	missense	probably damaging	1.00
R3177:Kif2a	UTSW	13	107,113,264 (GRCm39)	missense	probably damaging	1.00
R4646:Kif2a	UTSW	13	107,098,693 (GRCm39)	missense	probably damaging	1.00
R5566:Kif2a	UTSW	13	107,130,432 (GRCm39)	splice site	probably null	1.00
R5761:Kif2a	UTSW	13	107,098,672 (GRCm39)	missense	probably benign	0.05
R5797:Kif2a	UTSW	13	107,111,884 (GRCm39)	missense	probably damaging	1.00
R6812:Kif2a	UTSW	13	107,106,259 (GRCm39)	missense	probably benign	0.00
R7025:Kif2a	UTSW	13	107,119,102 (GRCm39)	missense	probably damaging	1.00
R7792:Kif2a	UTSW	13	107,124,490 (GRCm39)	missense	probably benign	0.06
R8679:Kif2a	UTSW	13	107,116,049 (GRCm39)	missense	probably damaging	0.98
R8972:Kif2a	UTSW	13	107,115,543 (GRCm39)	missense	probably damaging	1.00
R9569:Kif2a	UTSW	13	107,105,246 (GRCm39)	missense	probably benign	0.00
R9627:Kif2a	UTSW	13	107,158,558 (GRCm39)	missense	possibly damaging	0.56
R9733:Kif2a	UTSW	13	107,106,304 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GCTGAGCAACCGCAGAAATG -3'
(R):5'- TTATCGTACCAGCAAAGCCAG -3'

Sequencing Primer
(F):5'- ACCGCAGAAATGGCCTG -3'
(R):5'- TATCGTACCAGCAAAGCCAGAAGAC -3'

Posted On

2015-01-23