Mutagenetix > Incidental Mutation

Incidental Mutation 'R9733:Kif2a'

731577

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 #

R9733 (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 C at 107106304 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 528 (S528R)

Ref Sequence

ENSEMBL: ENSMUSP00000112715 (fasta)

Gene Model

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

AlphaFold

P28740

Predicted Effect

probably benign
Transcript: ENSMUST00000022204

SMART Domains

Protein: ENSMUSP00000022204
Gene: ENSMUSG00000021693

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: ENSMUST00000117423

SMART Domains

Protein: ENSMUSP00000113921
Gene: ENSMUSG00000021693

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 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 damaging
Transcript: ENSMUST00000122233
AA Change: S528R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000112715
Gene: ENSMUSG00000021693
AA Change: S528R

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: S555R

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000125644
Gene: ENSMUSG00000021693
AA Change: S555R

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: 99.9%
3x: 99.7%
10x: 99.3%
20x: 98.3%

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: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610042L04Rik	C	T	14: 15,712,825 (GRCm39)		probably benign	Het
4930595D18Rik	T	A	12: 111,128,254 (GRCm39)		probably benign	Het
Adam34l	T	C	8: 44,079,186 (GRCm39)	N346S	possibly damaging	Het
Alpi	C	T	1: 87,028,516 (GRCm39)	A125T	probably benign	Het
Alppl2	T	A	1: 87,014,957 (GRCm39)	H468L	probably damaging	Het
Arhgef12	A	T	9: 42,901,294 (GRCm39)	L836*	probably null	Het
Arv1	T	C	8: 125,458,658 (GRCm39)	Y261H	probably damaging	Het
Atf6	C	T	1: 170,662,402 (GRCm39)	S286N	probably benign	Het
Atl3	G	A	19: 7,509,705 (GRCm39)	G478R	probably damaging	Het
Avil	C	T	10: 126,843,711 (GRCm39)	R184C	probably damaging	Het
Bcl6b	A	G	11: 70,119,323 (GRCm39)	I131T	probably damaging	Het
Bltp1	T	A	3: 37,102,732 (GRCm39)	M1437K		Het
Catsper3	T	C	13: 55,946,752 (GRCm39)	S150P	probably damaging	Het
Cd7	A	G	11: 120,928,637 (GRCm39)	S132P	probably benign	Het
Cfh	T	C	1: 140,016,533 (GRCm39)	D1142G	probably damaging	Het
Clca4b	T	G	3: 144,621,272 (GRCm39)	K601Q	probably benign	Het
Cp	A	G	3: 20,033,126 (GRCm39)	H651R	probably damaging	Het
Cyp2s1	T	A	7: 25,507,529 (GRCm39)	T307S	probably damaging	Het
Dcaf11	A	G	14: 55,803,170 (GRCm39)	D328G	probably damaging	Het
Eapp	A	T	12: 54,739,741 (GRCm39)	S25R	probably damaging	Het
Ebag9	T	A	15: 44,491,033 (GRCm39)		probably null	Het
Exog	G	A	9: 119,291,586 (GRCm39)	E288K	possibly damaging	Het
Fads2	A	T	19: 10,047,940 (GRCm39)	Y265N	probably damaging	Het
Fam234b	T	A	6: 135,194,008 (GRCm39)	S220R	possibly damaging	Het
Fcgbp	T	A	7: 27,803,012 (GRCm39)	C1539S	probably damaging	Het
Fcsk	T	C	8: 111,615,563 (GRCm39)	T589A	probably benign	Het
Fv1	C	T	4: 147,954,621 (GRCm39)	R396W	probably damaging	Het
Fv1	T	C	4: 147,954,654 (GRCm39)	F407L	probably benign	Het
Glp2r	T	C	11: 67,648,367 (GRCm39)	T112A	probably benign	Het
Hydin	T	C	8: 111,262,011 (GRCm39)	I2704T	probably benign	Het
Ighm	T	A	12: 113,386,097 (GRCm39)	E84D	probably benign	Het
Ikzf5	A	G	7: 130,994,012 (GRCm39)	V205A	probably benign	Het
Kcnt1	G	T	2: 25,797,351 (GRCm39)	V844L	probably benign	Het
Klhl29	G	A	12: 5,190,641 (GRCm39)	T118M	probably damaging	Het
Krt4	C	A	15: 101,827,564 (GRCm39)	G492C	unknown	Het
Lama1	T	A	17: 68,116,940 (GRCm39)	I2441N		Het
Lin7a	T	C	10: 107,247,905 (GRCm39)	V192A	possibly damaging	Het
Marchf8	T	A	6: 116,378,990 (GRCm39)	V308D	probably damaging	Het
Mgat5b	T	C	11: 116,838,074 (GRCm39)	S238P	possibly damaging	Het
Mrps25	A	G	6: 92,155,715 (GRCm39)	S73P	probably damaging	Het
Muc6	G	T	7: 141,216,310 (GRCm39)	P2788T	unknown	Het
Ncf1	T	C	5: 134,250,899 (GRCm39)	T347A	probably benign	Het
Ndufaf4	T	C	4: 24,903,177 (GRCm39)	M122T	probably benign	Het
Nfil3	C	T	13: 53,121,591 (GRCm39)	A438T	probably damaging	Het
Noc2l	T	G	4: 156,328,022 (GRCm39)	I504S	probably damaging	Het
Nphs1	T	C	7: 30,166,955 (GRCm39)	C735R	probably damaging	Het
Or10g6	A	T	9: 39,934,171 (GRCm39)	S161C	probably benign	Het
Or2y10	T	C	11: 49,454,961 (GRCm39)	L71P	probably damaging	Het
Or5d38	C	A	2: 87,955,000 (GRCm39)	V110L	probably damaging	Het
Or6b9	A	C	7: 106,555,846 (GRCm39)	L99R	possibly damaging	Het
Pcdhac1	A	G	18: 37,225,506 (GRCm39)	H773R	probably benign	Het
Pcnt	A	G	10: 76,237,314 (GRCm39)	V1324A	probably benign	Het
Pcsk4	T	C	10: 80,158,034 (GRCm39)	Y568C	probably damaging	Het
Pdlim1	A	T	19: 40,219,040 (GRCm39)	M197K	probably damaging	Het
Plekho1	C	T	3: 95,903,091 (GRCm39)	G7S	probably benign	Het
Pramel17	A	G	4: 101,692,965 (GRCm39)	V345A	possibly damaging	Het
Prl7d1	A	C	13: 27,898,339 (GRCm39)	S57A	probably benign	Het
Prpf3	A	G	3: 95,741,512 (GRCm39)	V548A	possibly damaging	Het
Prss56	C	T	1: 87,111,219 (GRCm39)	P2L	possibly damaging	Het
Ric1	A	G	19: 29,580,030 (GRCm39)	D1277G	possibly damaging	Het
Rnf19b	T	A	4: 128,977,812 (GRCm39)	D676E	probably damaging	Het
Rph3a	T	A	5: 121,100,521 (GRCm39)	T126S	probably benign	Het
Sh3gl3	T	C	7: 81,917,562 (GRCm39)		probably null	Het
Slc14a1	C	A	18: 78,152,807 (GRCm39)	A367S	probably damaging	Het
Slc35f2	T	C	9: 53,708,385 (GRCm39)	V126A	probably benign	Het
Snrnp200	A	T	2: 127,068,240 (GRCm39)	Q860L	probably damaging	Het
Srbd1	T	C	17: 86,422,711 (GRCm39)	N435S	probably damaging	Het
Tab2	A	G	10: 7,795,214 (GRCm39)	S349P	possibly damaging	Het
Tie1	A	T	4: 118,330,183 (GRCm39)	W1040R	probably null	Het
Tnni3k	A	T	3: 154,562,244 (GRCm39)	Y678N	probably damaging	Het
Trav12-3	T	C	14: 53,859,474 (GRCm39)	V40A	possibly damaging	Het
Ttn	G	A	2: 76,576,379 (GRCm39)	S24838L	probably damaging	Het
Ttn	A	G	2: 76,725,660 (GRCm39)	W6158R	unknown	Het
Vegfa	T	C	17: 46,335,401 (GRCm39)	S298G	probably damaging	Het
Zer1	T	C	2: 29,997,643 (GRCm39)	K421R	probably benign	Het
Zfp959	C	A	17: 56,204,866 (GRCm39)	T301N	probably benign	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
R9627:Kif2a	UTSW	13	107,158,558 (GRCm39)	missense	possibly damaging	0.56

Predicted Primers

PCR Primer
(F):5'- ACCACCTGCTAAATGAAAATGG -3'
(R):5'- AGAAGGGAAAGATTTCGGGTTTTC -3'

Sequencing Primer
(F):5'- CCTGCTAAATGAAAATGGAAAATGGC -3'
(R):5'- AGGTGGGGATTAATAAAACTTAAGTG -3'

Posted On

2022-11-14