Mutagenetix > Incidental Mutation

Incidental Mutation 'R3035:Kif11'

264829

Institutional Source

Beutler Lab

Gene Symbol

Kif11

Ensembl Gene

ENSMUSG00000012443

Gene Name

kinesin family member 11

Synonyms

Eg5, Knsl1, Kifl1

MMRRC Submission

040551-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R3035 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37364851-37410307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 37395501 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Threonine at position 587 (S587T)

Ref Sequence

ENSEMBL: ENSMUSP00000012587 (fasta)

Gene Model

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

AlphaFold

Q6P9P6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012587
AA Change: S587T

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: S587T

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.1%
20x: 94.4%

Validation Efficiency

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: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932414N04Rik	T	A	2: 68,575,762 (GRCm39)	V687D	probably benign	Het
Ahctf1	T	A	1: 179,581,435 (GRCm39)	Q1589L	probably damaging	Het
Apba2	T	C	7: 64,389,540 (GRCm39)	S479P	probably benign	Het
C1galt1	A	G	6: 7,866,762 (GRCm39)	K203E	probably benign	Het
Dennd5a	A	G	7: 109,520,559 (GRCm39)	S433P	probably benign	Het
Dock9	A	G	14: 121,844,249 (GRCm39)	S1181P	possibly damaging	Het
Gsc2	A	G	16: 17,732,792 (GRCm39)	S26P	probably damaging	Het
Hcn4	T	C	9: 58,730,963 (GRCm39)	S57P	unknown	Het
Herc1	C	A	9: 66,391,217 (GRCm39)	Q4007K	possibly damaging	Het
Ighv1-54	C	A	12: 115,157,597 (GRCm39)	V17F	probably damaging	Het
Kctd12	T	A	14: 103,218,942 (GRCm39)	E312V	possibly damaging	Het
Kdf1	A	G	4: 133,255,373 (GRCm39)	N30S	probably benign	Het
Mbl1	C	A	14: 40,880,790 (GRCm39)	S226Y	probably damaging	Het
Mgam	A	G	6: 40,640,464 (GRCm39)	I511V	probably benign	Het
Rab36	G	A	10: 74,880,328 (GRCm39)	V63I	probably damaging	Het
Rap1gap2	C	A	11: 74,298,148 (GRCm39)	A491S	possibly damaging	Het
Serpinb9b	T	A	13: 33,213,529 (GRCm39)	C29S	possibly damaging	Het
Slc12a5	C	A	2: 164,822,178 (GRCm39)	L343I	probably benign	Het
Topors	C	T	4: 40,269,673 (GRCm39)		probably null	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
R0104:Kif11	UTSW	19	37,401,663 (GRCm39)	missense	probably benign	0.00
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
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

Predicted Primers

PCR Primer
(F):5'- ACCGGAGTAAGGATCATCTCAAATG -3'
(R):5'- CAAGCACAAGGTTTCTGACGG -3'

Sequencing Primer
(F):5'- GATCATCTCAAATGAAGaaaaatata -3'
(R):5'- CACAAGGTTTCTGACGGCTGATC -3'

Posted On

2015-02-05