Mutagenetix > Incidental Mutations

Incidental Mutation 'R0526:Kif15'

48937

Institutional Source

Beutler Lab

Gene Symbol

Kif15

Ensembl Gene

ENSMUSG00000036768

Gene Name

kinesin family member 15

Synonyms

HKLP2, Knsl7, N-10 kinesin

MMRRC Submission

038719-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0526 (G1)

Quality Score

198

Status

Not validated

Chromosome

Chromosomal Location

122951046-123018733 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 122997797 bp

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 800 (V800A)

Ref Sequence

ENSEMBL: ENSMUSP00000035490 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040717
AA Change: V800A

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035490
Gene: ENSMUSG00000036768
AA Change: V800A

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

noncoding transcript
Transcript: ENSMUST00000214183

Predicted Effect

probably benign
Transcript: ENSMUST00000214652
AA Change: V572A

PolyPhen 2 Score 0.351 (Sensitivity: 0.90; Specificity: 0.89)

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000217243

Coding Region Coverage

1x: 99.1%
3x: 98.3%
10x: 96.1%
20x: 92.0%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 66 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700013G24Rik	A	T	4: 137,455,224	N230I	possibly damaging	Het
4933427D14Rik	G	T	11: 72,169,783	Q687K	probably damaging	Het
Actrt2	A	G	4: 154,667,412	L89P	probably damaging	Het
Adamts1	A	C	16: 85,802,372	S113R	probably benign	Het
Agxt2	G	T	15: 10,373,862	C118F	probably damaging	Het
Akap8	G	A	17: 32,317,292	T49I	probably benign	Het
Alk	A	T	17: 71,869,753	W1519R	probably damaging	Het
Atf7ip	T	A	6: 136,559,805	F12Y	probably damaging	Het
Atp13a5	A	G	16: 29,348,740	C131R	probably damaging	Het
Atp8b4	A	G	2: 126,427,363	L168P	probably damaging	Het
Blm	G	T	7: 80,505,893	S346*	probably null	Het
Ccnt2	T	G	1: 127,799,445	C199G	probably damaging	Het
Cd151	A	T	7: 141,470,591	H219L	probably damaging	Het
Cd200r2	A	T	16: 44,915,047	R248S	probably damaging	Het
Cdh3	A	G	8: 106,555,446	D822G	possibly damaging	Het
Clec4b1	T	C	6: 123,069,770		probably null	Het
Cluh	C	A	11: 74,665,986	L951I	probably benign	Het
Cog7	A	T	7: 121,963,271		probably null	Het
Col25a1	C	A	3: 130,476,394	P197Q	probably damaging	Het
Csde1	T	A	3: 103,056,426	S636R	possibly damaging	Het
Ect2l	C	A	10: 18,199,940	C66F	possibly damaging	Het
Elac2	T	C	11: 64,999,436	M671T	probably benign	Het
Evi5	T	C	5: 107,821,748	N143S	probably benign	Het
Ext2	A	G	2: 93,806,085	V228A	probably damaging	Het
Fbxo38	A	G	18: 62,505,980	Y1084H	probably damaging	Het
Fcgr4	T	A	1: 171,029,191	L209Q	probably damaging	Het
Fgd3	C	T	13: 49,296,524	S83N	probably benign	Het
Gigyf2	T	A	1: 87,421,493	M664K	probably benign	Het
Gm38394	T	C	1: 133,658,734	I288M	probably damaging	Het
Il27ra	A	T	8: 84,039,499	S219T	probably benign	Het
Lmo7	T	A	14: 101,900,560	D666E	probably damaging	Het
Lrp5	T	C	19: 3,628,295	D520G	probably damaging	Het
Lrriq3	T	A	3: 155,188,297	M545K	probably benign	Het
Lsm5	T	A	6: 56,703,325	D44V	probably damaging	Het
Man1c1	G	T	4: 134,569,068	Y430*	probably null	Het
Map4	T	A	9: 110,037,278		probably null	Het
Megf6	A	G	4: 154,258,941	K561R	probably benign	Het
Myo1e	T	C	9: 70,322,398	Y173H	probably damaging	Het
Myo6	T	A	9: 80,283,541	S791R	possibly damaging	Het
Nol11	C	A	11: 107,184,771	E144*	probably null	Het
Ntng2	C	T	2: 29,197,062	R416Q	probably damaging	Het
Nxpe3	T	A	16: 55,866,517	I43F	possibly damaging	Het
Olfr1093	A	T	2: 86,786,347	T206S	possibly damaging	Het
Olfr1284	T	A	2: 111,379,492	V164E	possibly damaging	Het
Pkd1l2	T	C	8: 117,082,260	I64V	probably damaging	Het
Prf1	G	A	10: 61,300,254	R103H	probably benign	Het
Rest	A	G	5: 77,281,027	D431G	probably damaging	Het
Serpina10	A	T	12: 103,616,868	L439Q	probably damaging	Het
Sgk3	T	G	1: 9,881,579	V176G	probably damaging	Het
Slc19a3	A	G	1: 83,022,733	S188P	probably damaging	Het
Sorbs1	A	G	19: 40,349,948	I336T	probably damaging	Het
Ssfa2	A	G	2: 79,657,346	D591G	probably benign	Het
Strip1	C	T	3: 107,620,039		probably null	Het
Syt4	T	C	18: 31,443,746	E185G	possibly damaging	Het
Tcaf3	T	A	6: 42,589,804	I784F	probably damaging	Het
Tgfbr3l	G	T	8: 4,249,439	R74L	possibly damaging	Het
Thoc7	A	G	14: 13,949,282	M194T	probably benign	Het
Thsd7b	T	C	1: 129,951,392	Y989H	probably damaging	Het
Tmem156	C	T	5: 65,075,818	V134I	probably benign	Het
Tnks	A	T	8: 34,853,303	V738E	probably benign	Het
Trpm6	A	T	19: 18,792,876	I342F	probably damaging	Het
Vmn2r69	A	T	7: 85,411,503	V291D	probably damaging	Het
Wdr59	GGGTGGTG	GGGTG	8: 111,480,540		probably benign	Het
Wnk1	T	C	6: 119,951,992	T1292A	probably damaging	Het
Yes1	T	A	5: 32,655,240	C285S	probably benign	Het
Zbtb49	T	C	5: 38,213,919	N206S	probably benign	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
R0533:Kif15	UTSW	9	123009433	unclassified	probably benign
R0726:Kif15	UTSW	9	122959928	missense	probably benign	0.21
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	splice site	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
R8228:Kif15	UTSW	9	122991976	missense	possibly damaging	0.82
R8549:Kif15	UTSW	9	122986171	missense	probably benign
Z1177:Kif15	UTSW	9	122951051	unclassified	probably benign

Predicted Primers

PCR Primer
(F):5'- TGTAGGTGCAACCAGGACCTAAGG -3'
(R):5'- ACACTGTTTATAGTGAAGCCAACACCAA -3'

Sequencing Primer
(F):5'- CAACCAGGACCTAAGGAGAGG -3'
(R):5'- TGAAGCAAGCATCTTTAGCCATC -3'

Posted On

2013-06-12