Mutagenetix > Incidental Mutation

Incidental Mutation 'R0104:Kif11'

16236

Institutional Source

Beutler Lab

Gene Symbol

Kif11

Ensembl Gene

ENSMUSG00000012443

Gene Name

kinesin family member 11

Synonyms

Eg5, Knsl1, Kifl1

MMRRC Submission

038390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0104 (G1)

Quality Score

Status

Validated

Chromosome

Chromosomal Location

37364851-37410307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37401663 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 880 (V880D)

Ref Sequence

ENSEMBL: ENSMUSP00000012587 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000012587]

AlphaFold

Q6P9P6

Predicted Effect

probably benign
Transcript: ENSMUST00000012587
AA Change: V880D

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

SMART Domains

Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: V880D

Domain	Start	End	E-Value	Type
KISc	15	366	8.21e-180	SMART
Blast:KISc	372	417	1e-16	BLAST
low complexity region	453	465	N/A	INTRINSIC
Pfam:Microtub_bind	915	1049	1.2e-44	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 75.5%
3x: 52.6%
10x: 7.5%
20x: 3.0%

Validation Efficiency

100% (37/37)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a motor protein that belongs to the kinesin-like protein family. Members of this protein family are known to be involved in various kinds of spindle dynamics. The function of this gene product includes chromosome positioning, centrosome separation and establishing a bipolar spindle during cell mitosis. [provided by RefSeq, Jul 2008]
PHENOTYPE: Deletion of Kif11 results in early embryonic lethality of homozygotes, with developmental growth arrest at E3.5. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 23 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3100002H09Rik	C	A	4: 124,504,469 (GRCm39)	A28S	probably damaging	Het
Arhgap5	A	T	12: 52,563,500 (GRCm39)	D157V	probably damaging	Het
Cfap54	G	T	10: 92,864,514 (GRCm39)	H142N	probably damaging	Het
Dpp10	A	T	1: 123,295,572 (GRCm39)	M525K	probably benign	Het
Fsip2	A	T	2: 82,809,317 (GRCm39)	T1879S	possibly damaging	Het
Gm14129	T	C	2: 148,773,493 (GRCm39)		noncoding transcript	Het
Ighv2-7	A	T	12: 113,771,088 (GRCm39)	W66R	probably damaging	Het
Mcpt1	T	A	14: 56,256,888 (GRCm39)	M142K	possibly damaging	Het
Mlst8	T	C	17: 24,695,091 (GRCm39)	N264S	possibly damaging	Het
Nmrk1	T	A	19: 18,618,582 (GRCm39)	S88R	probably benign	Het
Or14j2	T	A	17: 37,885,817 (GRCm39)	I166F	probably damaging	Het
Or8d23	A	G	9: 38,842,261 (GRCm39)	S265G	possibly damaging	Het
Rtn1	A	T	12: 72,355,619 (GRCm39)	I109N	probably damaging	Het
Slc15a2	T	A	16: 36,594,997 (GRCm39)	L156F	possibly damaging	Het
Slc22a21	A	C	11: 53,842,635 (GRCm39)	M498R	probably null	Het
Ssc5d	T	C	7: 4,939,285 (GRCm39)	S574P	probably benign	Het
Taf2	T	C	15: 54,901,734 (GRCm39)	D820G	probably benign	Het
Tas2r135	A	T	6: 42,383,258 (GRCm39)	I266F	possibly damaging	Het
Trgv4	C	T	13: 19,369,480 (GRCm39)	H75Y	probably damaging	Het
Vil1	A	G	1: 74,457,525 (GRCm39)	K53E	probably benign	Het
Zfc3h1	T	A	10: 115,251,192 (GRCm39)	M1261K	possibly damaging	Het
Zfp655	T	C	5: 145,180,825 (GRCm39)	S228P	probably damaging	Het
Zfyve9	C	A	4: 108,575,360 (GRCm39)	D574Y	probably damaging	Het

Other mutations in Kif11

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00434:Kif11	APN	19	37,399,857 (GRCm39)	missense	possibly damaging	0.82
IGL00785:Kif11	APN	19	37,392,746 (GRCm39)	missense	probably damaging	0.99
IGL00785:Kif11	APN	19	37,392,745 (GRCm39)	missense	probably benign	0.01
IGL01586:Kif11	APN	19	37,372,681 (GRCm39)	splice site	probably benign
IGL01883:Kif11	APN	19	37,372,791 (GRCm39)	missense	probably benign	0.01
IGL02138:Kif11	APN	19	37,373,057 (GRCm39)	missense	probably damaging	1.00
IGL03197:Kif11	APN	19	37,395,475 (GRCm39)	missense	probably benign	0.00
PIT4151001:Kif11	UTSW	19	37,373,045 (GRCm39)	missense	probably damaging	1.00
R0027:Kif11	UTSW	19	37,395,431 (GRCm39)	splice site	probably benign
R0027:Kif11	UTSW	19	37,395,431 (GRCm39)	splice site	probably benign
R0254:Kif11	UTSW	19	37,399,957 (GRCm39)	missense	probably benign	0.00
R0631:Kif11	UTSW	19	37,401,565 (GRCm39)	splice site	probably benign
R1607:Kif11	UTSW	19	37,375,648 (GRCm39)	nonsense	probably null
R1895:Kif11	UTSW	19	37,375,847 (GRCm39)	missense	probably damaging	1.00
R1983:Kif11	UTSW	19	37,379,224 (GRCm39)	missense	possibly damaging	0.78
R2056:Kif11	UTSW	19	37,390,660 (GRCm39)	missense	probably benign	0.17
R2158:Kif11	UTSW	19	37,399,062 (GRCm39)	missense	probably benign
R2291:Kif11	UTSW	19	37,395,451 (GRCm39)	missense	probably benign
R2300:Kif11	UTSW	19	37,399,987 (GRCm39)	missense	probably benign	0.01
R2850:Kif11	UTSW	19	37,397,941 (GRCm39)	missense	probably benign
R2904:Kif11	UTSW	19	37,392,103 (GRCm39)	splice site	probably benign
R3035:Kif11	UTSW	19	37,395,501 (GRCm39)	missense	possibly damaging	0.92
R3908:Kif11	UTSW	19	37,379,169 (GRCm39)	missense	probably damaging	1.00
R4319:Kif11	UTSW	19	37,373,033 (GRCm39)	missense	probably damaging	0.99
R4356:Kif11	UTSW	19	37,399,883 (GRCm39)	missense	probably benign	0.00
R4469:Kif11	UTSW	19	37,404,940 (GRCm39)	missense	probably benign	0.05
R4623:Kif11	UTSW	19	37,398,195 (GRCm39)	missense	probably benign
R4779:Kif11	UTSW	19	37,406,397 (GRCm39)	missense	probably benign	0.00
R4911:Kif11	UTSW	19	37,406,385 (GRCm39)	missense	probably benign	0.00
R4980:Kif11	UTSW	19	37,375,819 (GRCm39)	nonsense	probably null
R5109:Kif11	UTSW	19	37,373,063 (GRCm39)	missense	possibly damaging	0.81
R5770:Kif11	UTSW	19	37,379,313 (GRCm39)	missense	probably benign	0.03
R6023:Kif11	UTSW	19	37,379,158 (GRCm39)	missense	probably damaging	1.00
R6666:Kif11	UTSW	19	37,398,214 (GRCm39)	missense	probably benign
R6755:Kif11	UTSW	19	37,398,199 (GRCm39)	missense	probably benign	0.01
R6845:Kif11	UTSW	19	37,392,565 (GRCm39)	missense	probably damaging	1.00
R7052:Kif11	UTSW	19	37,373,040 (GRCm39)	nonsense	probably null
R7367:Kif11	UTSW	19	37,408,789 (GRCm39)	missense	probably benign
R7387:Kif11	UTSW	19	37,398,204 (GRCm39)	missense	probably damaging	1.00
R7485:Kif11	UTSW	19	37,399,072 (GRCm39)	missense	possibly damaging	0.94
R7502:Kif11	UTSW	19	37,398,255 (GRCm39)	missense	possibly damaging	0.53
R7591:Kif11	UTSW	19	37,372,711 (GRCm39)	missense	probably damaging	1.00
R7618:Kif11	UTSW	19	37,400,008 (GRCm39)	missense	probably benign	0.32
R7809:Kif11	UTSW	19	37,373,057 (GRCm39)	missense	probably damaging	1.00
R8181:Kif11	UTSW	19	37,379,095 (GRCm39)	critical splice acceptor site	probably null
R8274:Kif11	UTSW	19	37,391,994 (GRCm39)	missense	probably damaging	0.99
R8323:Kif11	UTSW	19	37,372,692 (GRCm39)	missense	possibly damaging	0.77
R8948:Kif11	UTSW	19	37,386,602 (GRCm39)	missense	probably damaging	0.96
R9372:Kif11	UTSW	19	37,399,892 (GRCm39)	missense	probably benign	0.00
Z1177:Kif11	UTSW	19	37,401,735 (GRCm39)	missense	possibly damaging	0.62

Posted On

2013-01-20