Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL03003:Kif6'

407461

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Kif6

Ensembl Gene

ENSMUSG00000023999

Gene Name

kinesin family member 6

Synonyms

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

IGL03003

Quality Score

Status

Chromosome

Chromosomal Location

49615136-49909847 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to T at 49753871 bp

Zygosity

Heterozygous

Amino Acid Change

Arginine to Stop codon at position 411 (R411*)

Ref Sequence

ENSEMBL: ENSMUSP00000124674 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000162854]

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000024798

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000159396

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160049

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000162419

Predicted Effect

probably null
Transcript: ENSMUST00000162854
AA Change: R411*

SMART Domains

Protein: ENSMUSP00000124674
Gene: ENSMUSG00000023999
AA Change: R411*

Domain	Start	End	E-Value	Type
KISc	3	353	1.67e-121	SMART
coiled coil region	358	385	N/A	INTRINSIC
Blast:KISc	400	606	1e-85	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozgyos for an ENU-induced allele exhibit normal exercise capacity and cardiac function. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
AA986860	C	T	1: 130,743,772	P577L	probably damaging	Het
Aff3	A	T	1: 38,209,570	S819T	probably damaging	Het
Aftph	G	T	11: 20,726,982	S209*	probably null	Het
Astn1	T	A	1: 158,612,395	D844E	probably benign	Het
Cc2d2a	A	G	5: 43,671,266	K29E	probably benign	Het
Ccdc93	T	C	1: 121,463,117	S273P	possibly damaging	Het
Cd200r3	G	T	16: 44,943,775	M1I	probably null	Het
Cd200r3	C	A	16: 44,943,776	H2N	probably benign	Het
Col7a1	G	A	9: 108,974,956		probably null	Het
Cyp3a41a	T	A	5: 145,705,830	M240L	probably benign	Het
D430042O09Rik	A	T	7: 125,851,960	I1088F	probably damaging	Het
Dcstamp	T	C	15: 39,754,510	V105A	possibly damaging	Het
Dmbt1	C	A	7: 131,082,679	P635Q	probably benign	Het
Dsg1a	T	A	18: 20,336,819	M634K	probably benign	Het
Farp2	T	C	1: 93,567,418	Y138H	probably damaging	Het
Fga	T	C	3: 83,032,730	S564P	probably damaging	Het
Gbf1	T	C	19: 46,255,655	L142S	probably damaging	Het
Gm5422	T	C	10: 31,250,844		noncoding transcript	Het
Helz2	A	G	2: 181,240,253	V249A	probably damaging	Het
Hmcn2	C	A	2: 31,433,486	T4204K	probably damaging	Het
Ift81	T	C	5: 122,594,662	I270V	probably benign	Het
Klhl35	T	A	7: 99,470,343	V345D	probably damaging	Het
Mcm3ap	C	A	10: 76,504,697	D1531E	probably benign	Het
Muc5b	C	A	7: 141,863,614	D3432E	probably benign	Het
Nipbl	A	T	15: 8,350,314	V998D	probably damaging	Het
Nlrc3	C	A	16: 3,964,862	V228L	probably benign	Het
Nrap	T	C	19: 56,321,952	H1456R	probably damaging	Het
Nt5c1b	C	T	12: 10,374,910	A210V	possibly damaging	Het
Olfr364-ps1	T	C	2: 37,146,452	V80A	probably benign	Het
Olfr46	A	G	7: 140,610,370	Y60C	probably damaging	Het
Osbpl7	T	C	11: 97,050,695	Y15H	probably benign	Het
Pde8b	T	A	13: 95,041,957	N552Y	probably damaging	Het
Pi4kb	T	A	3: 94,984,812	S280T	probably benign	Het
Pkd1	T	A	17: 24,593,603		probably null	Het
Polh	A	T	17: 46,194,366	V108E	possibly damaging	Het
Prob1	A	G	18: 35,653,375	S609P	possibly damaging	Het
Ptprz1	T	A	6: 23,002,583	N1557K	probably damaging	Het
Rev1	A	C	1: 38,088,073	F369V	possibly damaging	Het
Rgma	A	G	7: 73,417,440	N148D	probably damaging	Het
Robo3	A	G	9: 37,419,291	L1003S	probably damaging	Het
Sdhb	T	C	4: 140,973,000	V137A	probably damaging	Het
Sema6c	T	C	3: 95,169,614	L337P	probably damaging	Het
Shc4	A	T	2: 125,723,333	Y15*	probably null	Het
Slc4a9	T	C	18: 36,536,893	S722P	probably damaging	Het
Smarcc1	A	G	9: 110,206,100	N864D	probably damaging	Het
Sspo	T	C	6: 48,455,087	L745P	probably damaging	Het
Syce1l	A	G	8: 113,654,067	D137G	probably damaging	Het
Tbc1d1	G	T	5: 64,316,438	W768L	probably damaging	Het
Tmbim7	A	G	5: 3,661,887	D7G	probably benign	Het
Tmem109	A	C	19: 10,874,331	S64A	probably benign	Het
Tnfrsf21	A	G	17: 43,039,943	R333G	probably damaging	Het
Ttn	T	G	2: 76,781,611	S17316R	probably damaging	Het
Usp10	A	G	8: 119,954,810	T668A	possibly damaging	Het
Xirp2	T	A	2: 67,515,562	F2716I	possibly damaging	Het

Other mutations in Kif6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01793:Kif6	APN	17	49624493	missense	probably damaging	0.99
IGL02098:Kif6	APN	17	49870894	missense	probably benign	0.36
IGL02259:Kif6	APN	17	49895891	splice site	probably benign
PIT4280001:Kif6	UTSW	17	49755120	missense	probably benign	0.32
R0044:Kif6	UTSW	17	49832256	splice site	probably benign
R1180:Kif6	UTSW	17	49832256	splice site	probably benign
R1432:Kif6	UTSW	17	49620700	missense	probably damaging	1.00
R1522:Kif6	UTSW	17	49714113	missense	probably damaging	0.99
R1760:Kif6	UTSW	17	49615283	missense	probably benign	0.00
R1770:Kif6	UTSW	17	49903649	missense	possibly damaging	0.92
R1809:Kif6	UTSW	17	49901784	missense	probably benign	0.00
R1854:Kif6	UTSW	17	49901771	missense	probably benign	0.25
R2176:Kif6	UTSW	17	49755230	missense	probably damaging	1.00
R3766:Kif6	UTSW	17	49758643	splice site	probably benign
R4620:Kif6	UTSW	17	49901296	missense	probably benign
R4661:Kif6	UTSW	17	49753881	missense	probably benign	0.21
R4972:Kif6	UTSW	17	49707619	missense	probably damaging	1.00
R5735:Kif6	UTSW	17	49832182	missense	probably damaging	1.00
R5950:Kif6	UTSW	17	49715088	missense	probably damaging	0.99
R6364:Kif6	UTSW	17	49620623	missense	probably benign	0.01
R7604:Kif6	UTSW	17	49671101	missense	probably damaging	1.00
R7879:Kif6	UTSW	17	49832186	missense	probably benign	0.08
R7966:Kif6	UTSW	17	49686425	missense	probably damaging	0.98
R8246:Kif6	UTSW	17	49758514	nonsense	probably null
R8487:Kif6	UTSW	17	49671136	missense	probably damaging	1.00
X0067:Kif6	UTSW	17	49832167	missense	probably benign	0.01
Z1177:Kif6	UTSW	17	49715100	missense	probably damaging	1.00

Posted On

2016-08-02