Mutagenetix > Incidental Mutations

Incidental Mutation 'R0726:Kif15'

63769

Institutional Source

Beutler Lab

Gene Symbol

Kif15

Ensembl Gene

ENSMUSG00000036768

Gene Name

kinesin family member 15

Synonyms

HKLP2, Knsl7, N-10 kinesin

MMRRC Submission

038908-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0726 (G1)

Quality Score

105

Status

Validated

Chromosome

Chromosomal Location

122951046-123018733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 122959928 bp

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]

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
Alg12	T	C	15: 88,806,647	Y256C	probably damaging	Het
Alox15	T	A	11: 70,350,195	D160V	probably damaging	Het
Aox2	T	C	1: 58,334,782		probably benign	Het
Bbs9	G	T	9: 22,793,823	A729S	probably damaging	Het
Bmp2k	T	A	5: 97,087,494		probably benign	Het
Braf	C	T	6: 39,662,148	R223Q	possibly damaging	Het
Cd101	A	T	3: 101,020,622	S48T	possibly damaging	Het
Cdh9	T	G	15: 16,831,044	D322E	probably benign	Het
Col28a1	C	T	6: 8,014,495		probably null	Het
Cpxm1	G	A	2: 130,390,939	R712W	probably damaging	Het
Csnk1g1	T	C	9: 66,032,355		probably benign	Het
Cyp2d37-ps	A	C	15: 82,690,449		noncoding transcript	Het
Cyth3	T	C	5: 143,692,642	V115A	probably benign	Het
Dnah9	C	T	11: 65,965,681	V2885M	probably damaging	Het
Dock9	G	T	14: 121,651,768	Y326*	probably null	Het
Espl1	T	C	15: 102,322,598	I1844T	probably benign	Het
Fam105a	A	T	15: 27,656,947	I338N	probably damaging	Het
Fam20a	T	A	11: 109,677,194	N357Y	probably damaging	Het
Fancc	C	A	13: 63,323,411	R385L	probably benign	Het
Foxe3	A	T	4: 114,925,250	L255H	unknown	Het
Frem2	T	C	3: 53,519,626	D2967G	possibly damaging	Het
Gabra6	T	G	11: 42,315,127	T301P	probably damaging	Het
Ganab	T	A	19: 8,911,113	Y511N	probably damaging	Het
Gm498	A	G	7: 143,871,761	D49G	probably damaging	Het
Grm4	T	A	17: 27,438,438		probably benign	Het
Hist1h1t	G	T	13: 23,696,324	K153N	possibly damaging	Het
Kcnj9	G	A	1: 172,325,921	S212F	probably damaging	Het
Kptn	A	G	7: 16,120,722	D106G	probably damaging	Het
Krtap13-1	T	A	16: 88,729,304	S139T	probably damaging	Het
Lepr	C	A	4: 101,764,934	N354K	probably benign	Het
Lypd3	G	T	7: 24,638,544	E112*	probably null	Het
Med13l	A	T	5: 118,748,684	N1550I	probably damaging	Het
Mettl2	C	T	11: 105,126,844	P60L	probably benign	Het
Muc4	A	G	16: 32,769,827	E850G	probably damaging	Het
Mylk	G	C	16: 34,879,475	E403Q	possibly damaging	Het
Nek1	A	G	8: 61,089,592	R739G	probably damaging	Het
Nipbl	A	T	15: 8,351,555	D584E	probably benign	Het
Nkain3	C	T	4: 20,158,388	V162M	possibly damaging	Het
Nmrk1	T	C	19: 18,641,480		probably benign	Het
Nsd2	T	C	5: 33,861,028		probably benign	Het
Olfr1198	A	T	2: 88,746,008	N293K	probably benign	Het
Olfr1270	T	A	2: 90,149,283	H241L	probably damaging	Het
Olfr133	T	C	17: 38,148,624	F12S	probably damaging	Het
Olfr1449	T	A	19: 12,935,605	V289D	probably damaging	Het
Olfr907	T	A	9: 38,499,122	M151K	possibly damaging	Het
Phex	T	A	X: 157,372,561		probably benign	Het
Pip5k1b	G	T	19: 24,378,892	D227E	probably damaging	Het
Prdm13	A	G	4: 21,683,914	I119T	unknown	Het
Rab19	G	T	6: 39,383,959	V14L	probably benign	Het
Rasa3	A	G	8: 13,580,118		probably benign	Het
Rgsl1	C	T	1: 153,802,328	S118N	probably damaging	Het
Rif1	C	T	2: 52,110,353	T1273M	possibly damaging	Het
Scn8a	A	G	15: 100,972,830	N254S	probably damaging	Het
Sema6a	T	C	18: 47,291,981	T188A	probably damaging	Het
Sh3pxd2a	C	T	19: 47,268,762	E506K	probably damaging	Het
Smarca2	A	T	19: 26,698,403	K1014N	probably damaging	Het
Smarca4	T	G	9: 21,700,139		probably null	Het
Sntb1	T	C	15: 55,676,356	R361G	probably benign	Het
Soga1	G	T	2: 157,060,262	R278S	probably damaging	Het
Stx5a	T	A	19: 8,754,911	I208N	probably damaging	Het
Tas2r102	T	A	6: 132,762,452	W108R	probably damaging	Het
Tcl1	A	G	12: 105,218,670	Y94H	probably damaging	Het
Tenm3	T	A	8: 48,236,594	Y1986F	probably damaging	Het
Tet2	G	A	3: 133,468,184	P1439L	probably benign	Het
Tiam2	T	C	17: 3,512,833		probably benign	Het
Ubap2l	G	A	3: 90,021,246	T526M	probably damaging	Het
Ugcg	C	T	4: 59,207,798	P46S	probably benign	Het
Uhrf1bp1	T	C	17: 27,885,489	V503A	possibly damaging	Het
Ushbp1	T	A	8: 71,388,747		probably benign	Het
Usp28	C	T	9: 49,003,869	R115C	probably damaging	Het
Vldlr	A	T	19: 27,238,386	D261V	probably damaging	Het
Vmn2r5	C	T	3: 64,503,765	D461N	probably benign	Het
Vmn2r86	A	T	10: 130,446,396	F784I	probably damaging	Het
Zfp59	A	T	7: 27,854,088	I322F	probably damaging	Het
Zfp607a	A	T	7: 27,879,149	H548L	probably benign	Het
Zfp626	G	A	7: 27,818,623	C343Y	probably damaging	Het

Other mutations in Kif15

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01459:Kif15	APN	9	122975755	missense	probably damaging	1.00
IGL01577:Kif15	APN	9	122996334	missense	probably benign	0.06
IGL01647:Kif15	APN	9	122963471	intron	probably benign
IGL01921:Kif15	APN	9	122979504	missense	probably damaging	1.00
IGL02040:Kif15	APN	9	123017385	missense	probably damaging	0.99
IGL02191:Kif15	APN	9	122975679	missense	probably damaging	1.00
IGL02218:Kif15	APN	9	122995827	splice site	probably benign
IGL02537:Kif15	APN	9	122993849	missense	probably benign	0.08
IGL02814:Kif15	APN	9	123003640	missense	possibly damaging	0.83
PIT4480001:Kif15	UTSW	9	123011543	missense	probably benign
R0034:Kif15	UTSW	9	122999285	missense	possibly damaging	0.47
R0458:Kif15	UTSW	9	123009359	missense	probably benign
R0526:Kif15	UTSW	9	122997797	missense	probably damaging	0.96
R0533:Kif15	UTSW	9	123009433	unclassified	probably benign
R1580:Kif15	UTSW	9	122959956	missense	probably benign	0.22
R1597:Kif15	UTSW	9	122994009	missense	probably benign	0.22
R2096:Kif15	UTSW	9	122986187	missense	probably damaging	1.00
R3125:Kif15	UTSW	9	122987961	missense	probably damaging	0.99
R3176:Kif15	UTSW	9	122987840	splice site	probably benign
R4088:Kif15	UTSW	9	122986189	missense	probably benign	0.29
R4308:Kif15	UTSW	9	123013982	missense	probably benign	0.00
R4597:Kif15	UTSW	9	122993849	missense	probably benign	0.08
R4705:Kif15	UTSW	9	122959993	splice site	probably null
R4832:Kif15	UTSW	9	123002126	splice site	probably null
R5100:Kif15	UTSW	9	122991994	missense	probably damaging	0.98
R5126:Kif15	UTSW	9	122975758	missense	probably damaging	1.00
R5180:Kif15	UTSW	9	122999210	missense	probably damaging	0.99
R5247:Kif15	UTSW	9	122986442	missense	possibly damaging	0.65
R5376:Kif15	UTSW	9	122993971	missense	probably benign	0.04
R5392:Kif15	UTSW	9	122996295	missense	probably damaging	0.99
R5422:Kif15	UTSW	9	122984889	synonymous	probably null
R5562:Kif15	UTSW	9	122978016	missense	probably damaging	1.00
R5663:Kif15	UTSW	9	122991851	splice site	probably null
R5767:Kif15	UTSW	9	123013974	missense	possibly damaging	0.78
R5927:Kif15	UTSW	9	123017261	missense	probably benign	0.00
R6049:Kif15	UTSW	9	123011622	missense	probably damaging	0.98
R6435:Kif15	UTSW	9	122986491	missense	probably damaging	1.00
R7040:Kif15	UTSW	9	123011614	missense	possibly damaging	0.67
R7158:Kif15	UTSW	9	122999314	missense	probably benign
R7163:Kif15	UTSW	9	123017657	missense	probably damaging	1.00
R7197:Kif15	UTSW	9	123009926	critical splice donor site	probably null
R7318:Kif15	UTSW	9	122987949	missense	probably damaging	1.00
R7360:Kif15	UTSW	9	122991137	missense	probably benign
R8039:Kif15	UTSW	9	123007425	missense	possibly damaging	0.82
Z1177:Kif15	UTSW	9	122951051	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