Mutagenetix > Incidental Mutation

Incidental Mutation 'R9627:Kif2a'

725241

Institutional Source

Beutler Lab

Gene Symbol

Kif2a

Ensembl Gene

ENSMUSG00000021693

Gene Name

kinesin family member 2A

Synonyms

Kns2, M-kinesin, Kif2

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9627 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

107095504-107158634 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 107158558 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 9 (I9T)

Ref Sequence

ENSEMBL: ENSMUSP00000022204 (fasta)

Gene Model

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

AlphaFold

P28740

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022204
AA Change: I9T

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693
AA Change: I9T

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 benign
Transcript: ENSMUST00000117539

SMART Domains

Protein: ENSMUSP00000113361
Gene: ENSMUSG00000021693

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 benign
Transcript: ENSMUST00000122233

SMART Domains

Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693

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

possibly damaging
Transcript: ENSMUST00000159772
AA Change: I9T

PolyPhen 2 Score 0.708 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: I9T

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

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
4932414N04Rik	A	T	2: 68,487,834 (GRCm39)		probably benign	Het
Abca14	T	C	7: 119,854,530 (GRCm39)	V898A	probably benign	Het
Adamtsl1	A	T	4: 86,306,762 (GRCm39)	D1400V	possibly damaging	Het
Akap6	T	A	12: 53,151,413 (GRCm39)	M1159K		Het
Atg13	C	A	2: 91,509,098 (GRCm39)	G446*	probably null	Het
Atp6v1g2	G	T	17: 35,454,956 (GRCm39)		probably null	Het
Bmp2k	C	T	5: 97,201,028 (GRCm39)	A316V	possibly damaging	Het
Ccdc34	AAGA	AA	2: 109,871,010 (GRCm39)		probably null	Het
Cfap251	A	G	5: 123,460,557 (GRCm39)	D1173G	probably benign	Het
Cln6	T	A	9: 62,754,303 (GRCm39)	I115N	probably damaging	Het
Cma1	T	C	14: 56,181,289 (GRCm39)	T39A	probably benign	Het
Cpsf1	A	T	15: 76,484,088 (GRCm39)	M744K	probably damaging	Het
Csf1r	A	G	18: 61,260,972 (GRCm39)	Y721C	probably damaging	Het
Dcaf12	A	G	4: 41,293,976 (GRCm39)	L387P	probably benign	Het
Ephb1	T	C	9: 101,918,468 (GRCm39)	E347G	possibly damaging	Het
Fig4	T	A	10: 41,108,178 (GRCm39)	H674L	probably benign	Het
Foxa3	T	A	7: 18,748,458 (GRCm39)	K223*	probably null	Het
Gimap7	T	C	6: 48,700,600 (GRCm39)	V62A	probably damaging	Het
Glrx3	T	A	7: 137,046,755 (GRCm39)	V49E	probably benign	Het
Greb1	T	C	12: 16,756,167 (GRCm39)	Y823C	probably damaging	Het
H3c7	G	T	13: 23,728,793 (GRCm39)	V47L	possibly damaging	Het
Hapln4	C	A	8: 70,539,520 (GRCm39)	R184S	possibly damaging	Het
Hmcn1	C	T	1: 150,506,054 (GRCm39)	C3824Y	probably damaging	Het
Hrnr	T	C	3: 93,233,235 (GRCm39)	S1158P	unknown	Het
Itln1	A	G	1: 171,360,985 (GRCm39)	S36P	probably benign	Het
Kcnh5	A	C	12: 75,160,990 (GRCm39)	I306S	probably damaging	Het
Kctd19	T	A	8: 106,113,997 (GRCm39)	M559L	probably benign	Het
Klra5	G	A	6: 129,883,701 (GRCm39)	T142I	probably benign	Het
Ldlrad3	A	G	2: 101,785,423 (GRCm39)	V184A	probably damaging	Het
Lrrc27	T	C	7: 138,808,582 (GRCm39)		probably benign	Het
Mark1	A	G	1: 184,646,817 (GRCm39)	V340A	probably benign	Het
Mrps31	T	C	8: 22,901,558 (GRCm39)	V26A	probably benign	Het
Mtrr	G	A	13: 68,725,756 (GRCm39)	L118F	probably damaging	Het
Naip5	T	A	13: 100,356,338 (GRCm39)	E1092D	probably benign	Het
Nbas	G	T	12: 13,350,203 (GRCm39)	V285F	possibly damaging	Het
Nfrkb	T	C	9: 31,321,189 (GRCm39)	L675P	possibly damaging	Het
Or10v9	T	A	19: 11,832,910 (GRCm39)	I136F	possibly damaging	Het
Or1q1	T	A	2: 36,887,665 (GRCm39)	V281E		Het
Or5k15	T	A	16: 58,709,771 (GRCm39)	I271L	probably benign	Het
Phkg1	C	T	5: 129,893,376 (GRCm39)	W358*	probably null	Het
Plekhj1	A	C	10: 80,633,494 (GRCm39)	I51S	possibly damaging	Het
Plxnd1	C	T	6: 115,940,274 (GRCm39)	R1370Q	possibly damaging	Het
Prkg2	T	C	5: 99,079,869 (GRCm39)	*763W	probably null	Het
Rhobtb2	A	G	14: 70,034,349 (GRCm39)	F292S	probably damaging	Het
Rlf	A	T	4: 121,007,002 (GRCm39)	C769*	probably null	Het
Rmi1	C	A	13: 58,557,366 (GRCm39)	D538E	possibly damaging	Het
Scn4a	C	T	11: 106,212,839 (GRCm39)	V1389I	probably benign	Het
Serpinc1	A	T	1: 160,821,101 (GRCm39)	K183*	probably null	Het
Setd4	A	T	16: 93,380,562 (GRCm39)	M399K	possibly damaging	Het
Setx	T	C	2: 29,034,661 (GRCm39)	M382T	probably damaging	Het
Slc6a9	A	G	4: 117,721,210 (GRCm39)	Y208C	probably damaging	Het
Slfn2	A	T	11: 82,960,367 (GRCm39)	K115N		Het
Snrk	A	T	9: 121,966,427 (GRCm39)	K117*	probably null	Het
Spata31	A	G	13: 65,065,409 (GRCm39)	Y38C	possibly damaging	Het
Stab2	T	C	10: 86,793,704 (GRCm39)	T464A	probably damaging	Het
Tagap1	C	T	17: 7,224,327 (GRCm39)	G123D	probably benign	Het
Tas2r136	T	C	6: 132,754,948 (GRCm39)	K60E	possibly damaging	Het
Tasor	T	C	14: 27,194,123 (GRCm39)	S1108P	probably benign	Het
Tmem200b	A	C	4: 131,649,437 (GRCm39)	Y119S	probably damaging	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Wwp2	T	G	8: 108,278,959 (GRCm39)	L578W	probably damaging	Het
Zfp53	T	A	17: 21,728,745 (GRCm39)	C259*	probably null	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
R3277: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
R9733:Kif2a	UTSW	13	107,106,304 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- CCTAACGGAGTCCCCTGG -3'
(R):5'- CCTCTCCAGCGTCCGTAG -3'

Sequencing Primer
(F):5'- GGAGAGGACCGCGAACC -3'
(R):5'- CTCGCTTCACCCGGACG -3'

Posted On

2022-09-12