Mutagenetix > Incidental Mutation

Incidental Mutation 'R0726:Kif15'

63769

Institutional Source

Beutler Lab

Gene Symbol

Kif15

Ensembl Gene

ENSMUSG00000036768

Gene Name

kinesin family member 15

Synonyms

N-10 kinesin, 3930402I10Rik, 3110023M17Rik, HKLP2, Knsl7

MMRRC Submission

038908-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0726 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

122780146-122847798 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122788993 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Asparagine at position 62 (H62N)

Ref Sequence

ENSEMBL: ENSMUSP00000149737 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040717] [ENSMUST00000213745] [ENSMUST00000214652] [ENSMUST00000216388] [ENSMUST00000217401]

AlphaFold

Q6P9L6

Predicted Effect

probably benign
Transcript: ENSMUST00000040717
AA Change: H62N

PolyPhen 2 Score 0.026 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: H62N

Domain	Start	End	E-Value	Type
KISc	24	371	2.86e-179	SMART
Pfam:Kinesin-relat_1	463	551	6.6e-26	PFAM
coiled coil region	579	643	N/A	INTRINSIC
coiled coil region	706	1037	N/A	INTRINSIC
coiled coil region	1065	1133	N/A	INTRINSIC
Pfam:HMMR_C	1265	1387	3.5e-12	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000213745
AA Change: H62N

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)

Predicted Effect

probably benign
Transcript: ENSMUST00000214652

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000214921

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000215176

Predicted Effect

probably benign
Transcript: ENSMUST00000216388

Predicted Effect

probably benign
Transcript: ENSMUST00000217401
AA Change: H62N

PolyPhen 2 Score 0.207 (Sensitivity: 0.92; Specificity: 0.88)

Meta Mutation Damage Score

0.0647

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.1%
20x: 89.2%

Validation Efficiency

98% (90/92)

Allele List at MGI

Other mutations in this stock

Total: 76 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acte1	A	G	7: 143,425,498 (GRCm39)	D49G	probably damaging	Het
Alg12	T	C	15: 88,690,850 (GRCm39)	Y256C	probably damaging	Het
Alox15	T	A	11: 70,241,021 (GRCm39)	D160V	probably damaging	Het
Aox1	T	C	1: 58,373,941 (GRCm39)		probably benign	Het
Bbs9	G	T	9: 22,705,119 (GRCm39)	A729S	probably damaging	Het
Bltp3a	T	C	17: 28,104,463 (GRCm39)	V503A	possibly damaging	Het
Bmp2k	T	A	5: 97,235,353 (GRCm39)		probably benign	Het
Braf	C	T	6: 39,639,082 (GRCm39)	R223Q	possibly damaging	Het
Cd101	A	T	3: 100,927,938 (GRCm39)	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,130 (GRCm39)	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495 (GRCm39)		probably null	Het
Cpxm1	G	A	2: 130,232,859 (GRCm39)	R712W	probably damaging	Het
Csnk1g1	T	C	9: 65,939,637 (GRCm39)		probably benign	Het
Cyp2d37-ps	A	C	15: 82,574,650 (GRCm39)		noncoding transcript	Het
Cyth3	T	C	5: 143,678,397 (GRCm39)	V115A	probably benign	Het
Dnah9	C	T	11: 65,856,507 (GRCm39)	V2885M	probably damaging	Het
Dock9	G	T	14: 121,889,180 (GRCm39)	Y326*	probably null	Het
Espl1	T	C	15: 102,231,033 (GRCm39)	I1844T	probably benign	Het
Fam20a	T	A	11: 109,568,020 (GRCm39)	N357Y	probably damaging	Het
Fancc	C	A	13: 63,471,225 (GRCm39)	R385L	probably benign	Het
Foxe3	A	T	4: 114,782,447 (GRCm39)	L255H	unknown	Het
Frem2	T	C	3: 53,427,047 (GRCm39)	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,205,954 (GRCm39)	T301P	probably damaging	Het
Ganab	T	A	19: 8,888,477 (GRCm39)	Y511N	probably damaging	Het
Grm4	T	A	17: 27,657,412 (GRCm39)		probably benign	Het
H1f6	G	T	13: 23,880,307 (GRCm39)	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,153,488 (GRCm39)	S212F	probably damaging	Het
Kptn	A	G	7: 15,854,647 (GRCm39)	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,526,192 (GRCm39)	S139T	probably damaging	Het
Lepr	C	A	4: 101,622,131 (GRCm39)	N354K	probably benign	Het
Lypd3	G	T	7: 24,337,969 (GRCm39)	E112*	probably null	Het
Med13l	A	T	5: 118,886,749 (GRCm39)	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,017,670 (GRCm39)	P60L	probably benign	Het
Mtcl2	G	T	2: 156,902,182 (GRCm39)	R278S	probably damaging	Het
Muc4	A	G	16: 32,590,201 (GRCm39)	E850G	probably damaging	Het
Mylk	G	C	16: 34,699,845 (GRCm39)	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,542,626 (GRCm39)	R739G	probably damaging	Het
Nipbl	A	T	15: 8,381,039 (GRCm39)	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388 (GRCm39)	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,618,844 (GRCm39)		probably benign	Het
Nsd2	T	C	5: 34,018,372 (GRCm39)		probably benign	Het
Or2n1b	T	C	17: 38,459,515 (GRCm39)	F12S	probably damaging	Het
Or4b1	T	A	2: 89,979,627 (GRCm39)	H241L	probably damaging	Het
Or4p23	A	T	2: 88,576,352 (GRCm39)	N293K	probably benign	Het
Or5b24	T	A	19: 12,912,969 (GRCm39)	V289D	probably damaging	Het
Or8b44	T	A	9: 38,410,418 (GRCm39)	M151K	possibly damaging	Het
Otulinl	A	T	15: 27,657,033 (GRCm39)	I338N	probably damaging	Het
Phex	T	A	X: 156,155,557 (GRCm39)		probably benign	Het
Pip5k1b	G	T	19: 24,356,256 (GRCm39)	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914 (GRCm39)	I119T	unknown	Het
Rab19	G	T	6: 39,360,893 (GRCm39)	V14L	probably benign	Het
Rasa3	A	G	8: 13,630,118 (GRCm39)		probably benign	Het
Rgsl1	C	T	1: 153,678,074 (GRCm39)	S118N	probably damaging	Het
Rif1	C	T	2: 52,000,365 (GRCm39)	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,870,711 (GRCm39)	N254S	probably damaging	Het
Sema6a	T	C	18: 47,425,048 (GRCm39)	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,257,201 (GRCm39)	E506K	probably damaging	Het
Smarca2	A	T	19: 26,675,803 (GRCm39)	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,611,435 (GRCm39)		probably null	Het
Sntb1	T	C	15: 55,539,752 (GRCm39)	R361G	probably benign	Het
Stx5a	T	A	19: 8,732,275 (GRCm39)	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,739,415 (GRCm39)	W108R	probably damaging	Het
Tcl1	A	G	12: 105,184,929 (GRCm39)	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,689,629 (GRCm39)	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,173,945 (GRCm39)	P1439L	probably benign	Het
Tiam2	T	C	17: 3,563,108 (GRCm39)		probably benign	Het
Ubap2l	G	A	3: 89,928,553 (GRCm39)	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798 (GRCm39)	P46S	probably benign	Het
Ushbp1	T	A	8: 71,841,391 (GRCm39)		probably benign	Het
Usp28	C	T	9: 48,915,169 (GRCm39)	R115C	probably damaging	Het
Vldlr	A	T	19: 27,215,786 (GRCm39)	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,411,186 (GRCm39)	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,282,265 (GRCm39)	F784I	probably damaging	Het
Zfp59	A	T	7: 27,553,513 (GRCm39)	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,578,574 (GRCm39)	H548L	probably benign	Het
Zfp626	G	A	7: 27,518,048 (GRCm39)	C343Y	probably damaging	Het

Other mutations in Kif15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Kif15	APN	9	122,804,820 (GRCm39)	missense	probably damaging	1.00
IGL01577:Kif15	APN	9	122,825,399 (GRCm39)	missense	probably benign	0.06
IGL01647:Kif15	APN	9	122,792,536 (GRCm39)	intron	probably benign
IGL01921:Kif15	APN	9	122,808,569 (GRCm39)	missense	probably damaging	1.00
IGL02040:Kif15	APN	9	122,846,450 (GRCm39)	missense	probably damaging	0.99
IGL02191:Kif15	APN	9	122,804,744 (GRCm39)	missense	probably damaging	1.00
IGL02218:Kif15	APN	9	122,824,892 (GRCm39)	splice site	probably benign
IGL02537:Kif15	APN	9	122,822,914 (GRCm39)	missense	probably benign	0.08
IGL02814:Kif15	APN	9	122,832,705 (GRCm39)	missense	possibly damaging	0.83
PIT4480001:Kif15	UTSW	9	122,840,608 (GRCm39)	missense	probably benign
R0034:Kif15	UTSW	9	122,828,350 (GRCm39)	missense	possibly damaging	0.47
R0458:Kif15	UTSW	9	122,838,424 (GRCm39)	missense	probably benign
R0526:Kif15	UTSW	9	122,826,862 (GRCm39)	missense	probably damaging	0.96
R0533:Kif15	UTSW	9	122,838,498 (GRCm39)	unclassified	probably benign
R1580:Kif15	UTSW	9	122,789,021 (GRCm39)	missense	probably benign	0.22
R1597:Kif15	UTSW	9	122,823,074 (GRCm39)	missense	probably benign	0.22
R2096:Kif15	UTSW	9	122,815,252 (GRCm39)	missense	probably damaging	1.00
R3125:Kif15	UTSW	9	122,817,026 (GRCm39)	missense	probably damaging	0.99
R3176:Kif15	UTSW	9	122,816,905 (GRCm39)	splice site	probably benign
R4088:Kif15	UTSW	9	122,815,254 (GRCm39)	missense	probably benign	0.29
R4308:Kif15	UTSW	9	122,843,047 (GRCm39)	missense	probably benign	0.00
R4597:Kif15	UTSW	9	122,822,914 (GRCm39)	missense	probably benign	0.08
R4705:Kif15	UTSW	9	122,789,058 (GRCm39)	splice site	probably null
R4832:Kif15	UTSW	9	122,831,191 (GRCm39)	splice site	probably null
R5100:Kif15	UTSW	9	122,821,059 (GRCm39)	missense	probably damaging	0.98
R5126:Kif15	UTSW	9	122,804,823 (GRCm39)	missense	probably damaging	1.00
R5180:Kif15	UTSW	9	122,828,275 (GRCm39)	missense	probably damaging	0.99
R5247:Kif15	UTSW	9	122,815,507 (GRCm39)	missense	possibly damaging	0.65
R5376:Kif15	UTSW	9	122,823,036 (GRCm39)	missense	probably benign	0.04
R5392:Kif15	UTSW	9	122,825,360 (GRCm39)	missense	probably damaging	0.99
R5422:Kif15	UTSW	9	122,813,954 (GRCm39)	splice site	probably null
R5562:Kif15	UTSW	9	122,807,081 (GRCm39)	missense	probably damaging	1.00
R5663:Kif15	UTSW	9	122,820,916 (GRCm39)	splice site	probably null
R5767:Kif15	UTSW	9	122,843,039 (GRCm39)	missense	possibly damaging	0.78
R5927:Kif15	UTSW	9	122,846,326 (GRCm39)	missense	probably benign	0.00
R6049:Kif15	UTSW	9	122,840,687 (GRCm39)	missense	probably damaging	0.98
R6435:Kif15	UTSW	9	122,815,556 (GRCm39)	missense	probably damaging	1.00
R7040:Kif15	UTSW	9	122,840,679 (GRCm39)	missense	possibly damaging	0.67
R7158:Kif15	UTSW	9	122,828,379 (GRCm39)	missense	probably benign
R7163:Kif15	UTSW	9	122,846,722 (GRCm39)	missense	probably damaging	1.00
R7197:Kif15	UTSW	9	122,838,991 (GRCm39)	critical splice donor site	probably null
R7318:Kif15	UTSW	9	122,817,014 (GRCm39)	missense	probably damaging	1.00
R7360:Kif15	UTSW	9	122,820,202 (GRCm39)	missense	probably benign
R8039:Kif15	UTSW	9	122,836,490 (GRCm39)	missense	possibly damaging	0.82
R8228:Kif15	UTSW	9	122,821,041 (GRCm39)	missense	possibly damaging	0.82
R8549:Kif15	UTSW	9	122,815,236 (GRCm39)	missense	probably benign
R9001:Kif15	UTSW	9	122,826,855 (GRCm39)	missense	probably benign	0.00
R9031:Kif15	UTSW	9	122,846,492 (GRCm39)	intron	probably benign
R9044:Kif15	UTSW	9	122,840,781 (GRCm39)	missense	probably benign	0.01
R9063:Kif15	UTSW	9	122,833,706 (GRCm39)	missense	probably damaging	1.00
R9306:Kif15	UTSW	9	122,807,056 (GRCm39)	missense	probably damaging	1.00
R9490:Kif15	UTSW	9	122,788,203 (GRCm39)	missense	probably benign	0.10
R9554:Kif15	UTSW	9	122,828,585 (GRCm39)	missense	probably damaging	1.00
R9682:Kif15	UTSW	9	122,815,712 (GRCm39)	missense	probably damaging	0.98
R9752:Kif15	UTSW	9	122,824,890 (GRCm39)	critical splice donor site	probably null
Z1177:Kif15	UTSW	9	122,780,116 (GRCm39)	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- ACAGGCAAGCTGAGATTCTGGTG -3'
(R):5'- ATTCACACAGTGGCAAGACTGAGG -3'

Sequencing Primer
(F):5'- CAAGCTGAGATTCTGGTGATTTTC -3'
(R):5'- AACCTGGAGACTTGCTCATGTC -3'

Posted On

2013-07-30