Mutagenetix > Incidental Mutation

Incidental Mutation 'R4319:Kif11'

324149

Institutional Source

Beutler Lab

Gene Symbol

Kif11

Ensembl Gene

ENSMUSG00000012443

Gene Name

kinesin family member 11

Synonyms

Eg5, Knsl1, Kifl1

MMRRC Submission

041660-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4319 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

37364851-37410307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37373033 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 84 (V84A)

Ref Sequence

ENSEMBL: ENSMUSP00000012587 (fasta)

Gene Model

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

AlphaFold

Q6P9P6

Predicted Effect

probably damaging
Transcript: ENSMUST00000012587
AA Change: V84A

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: V84A

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

0.3698

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

94% (31/33)

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Atxn7l2	A	T	3: 108,113,148 (GRCm39)	D218E	probably damaging	Het
Bahd1	C	T	2: 118,746,887 (GRCm39)	P169S	probably damaging	Het
Cacna1c	A	C	6: 118,631,330 (GRCm39)	I1148S	probably damaging	Het
Ccdc178	T	A	18: 22,166,600 (GRCm39)	K530*	probably null	Het
Ccdc191	A	G	16: 43,767,872 (GRCm39)	E624G	probably damaging	Het
Cep290	A	C	10: 100,374,909 (GRCm39)	H1385P	probably benign	Het
Chrd	A	G	16: 20,555,798 (GRCm39)	H545R	probably damaging	Het
Dgkb	A	G	12: 38,488,598 (GRCm39)	I655V	probably damaging	Het
Gm2663	G	T	6: 40,974,530 (GRCm39)	Q87K	probably damaging	Het
Itsn1	G	A	16: 91,615,440 (GRCm39)		probably benign	Het
Klf2	A	G	8: 73,074,005 (GRCm39)	T270A	probably benign	Het
Lemd2	A	G	17: 27,420,651 (GRCm39)	M254T	possibly damaging	Het
Luc7l	A	T	17: 26,496,593 (GRCm39)		probably benign	Het
Mapk11	T	C	15: 89,030,946 (GRCm39)	E71G	probably damaging	Het
Mcoln2	G	A	3: 145,855,766 (GRCm39)		probably null	Het
Or2y1f	G	A	11: 49,184,503 (GRCm39)	M118I	probably damaging	Het
Pira13	A	G	7: 3,825,754 (GRCm39)	S372P	possibly damaging	Het
Pygb	G	T	2: 150,657,534 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Sox6	A	G	7: 115,179,798 (GRCm39)		probably null	Het
Spty2d1	T	C	7: 46,647,883 (GRCm39)	S349G	probably damaging	Het
Srbd1	A	T	17: 86,358,578 (GRCm39)	V657D	probably damaging	Het
Tspo2	G	T	17: 48,756,871 (GRCm39)		probably benign	Het
Ufsp2	A	G	8: 46,448,664 (GRCm39)	T422A	possibly damaging	Het
Vmn2r63	A	G	7: 42,576,406 (GRCm39)	F469S	probably benign	Het
Wdr46	A	G	17: 34,159,718 (GRCm39)	T3A	probably benign	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
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
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'- TTGACGGACAAGACCTCCAAG -3'
(R):5'- TTTCCAGTGCCAGTCTGAC -3'

Sequencing Primer
(F):5'- ATACACGTTTGATATGGTACTGATGG -3'
(R):5'- TTACGCGAAGATGGTGC -3'

Posted On

2015-06-24