Mutagenetix > Incidental Mutation

Incidental Mutation 'R7809:Kif11'

601048

Institutional Source

Beutler Lab

Gene Symbol

Kif11

Ensembl Gene

ENSMUSG00000012443

Gene Name

kinesin family member 11

Synonyms

Eg5, Knsl1, Kifl1

MMRRC Submission

045864-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7809 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

37364851-37410307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 37373057 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 92 (V92A)

Ref Sequence

ENSEMBL: ENSMUSP00000012587 (fasta)

Gene Model

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

AlphaFold

Q6P9P6

Predicted Effect

probably damaging
Transcript: ENSMUST00000012587
AA Change: V92A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: V92A

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot13	G	A	13: 25,004,779 (GRCm39)	T62I	probably damaging	Het
Adam33	C	G	2: 130,893,266 (GRCm39)	R779P	probably benign	Het
Adgrv1	G	A	13: 81,676,760 (GRCm39)	P2024S	possibly damaging	Het
Afm	A	G	5: 90,672,675 (GRCm39)	N170S	probably damaging	Het
Ambn	G	A	5: 88,615,683 (GRCm39)	V371I	probably benign	Het
Apbb1	G	A	7: 105,223,014 (GRCm39)	P199L	probably benign	Het
Axdnd1	A	T	1: 156,220,371 (GRCm39)	C118*	probably null	Het
Carf	G	T	1: 60,183,226 (GRCm39)	V443L	probably damaging	Het
Cfap251	A	G	5: 123,402,894 (GRCm39)	D459G	probably damaging	Het
Ckap5	G	A	2: 91,436,702 (GRCm39)	A1601T	probably benign	Het
Cnot1	A	T	8: 96,478,406 (GRCm39)	I973N	probably damaging	Het
Col11a1	A	G	3: 113,890,835 (GRCm39)	T391A	unknown	Het
Cracr2a	A	T	6: 127,626,925 (GRCm39)	M569L	probably benign	Het
Cspg4	T	C	9: 56,797,474 (GRCm39)	F1313L	probably damaging	Het
Cstdc2	A	G	2: 148,688,910 (GRCm39)	S110P	probably damaging	Het
Cttnbp2	C	A	6: 18,434,289 (GRCm39)	R523L	probably damaging	Het
Cxadr	T	C	16: 78,130,407 (GRCm39)		probably null	Het
Dnah17	A	T	11: 117,995,462 (GRCm39)	M962K	probably benign	Het
Dnm1	T	C	2: 32,243,091 (GRCm39)	K44R	probably damaging	Het
Fat3	T	C	9: 15,917,924 (GRCm39)	S1500G	probably damaging	Het
Gad1	T	C	2: 70,427,603 (GRCm39)	F503S	possibly damaging	Het
Garin3	A	G	11: 46,298,631 (GRCm39)	E645G		Het
Gm20730	T	C	6: 43,058,989 (GRCm39)	I15V	probably benign	Het
Gmppb	T	G	9: 107,928,654 (GRCm39)	*361G	probably null	Het
Inpp5f	T	C	7: 128,269,367 (GRCm39)	V239A	probably damaging	Het
Irf4	A	T	13: 30,941,415 (GRCm39)	Y257F	probably benign	Het
Kcnma1	T	C	14: 23,423,324 (GRCm39)	D793G	probably benign	Het
Lrriq1	T	C	10: 103,051,678 (GRCm39)	K358R	probably damaging	Het
Mcpt4	T	A	14: 56,298,141 (GRCm39)	I137F	possibly damaging	Het
Muc6	T	A	7: 141,226,638 (GRCm39)	H1358L	probably benign	Het
Mug1	A	T	6: 121,855,944 (GRCm39)	M979L	possibly damaging	Het
Mvb12a	C	A	8: 71,998,306 (GRCm39)	P175T	probably benign	Het
Myh13	A	G	11: 67,241,167 (GRCm39)	E848G	probably benign	Het
Or4c105	A	T	2: 88,647,902 (GRCm39)	H129L	probably damaging	Het
Oxnad1	T	C	14: 31,822,962 (GRCm39)	V231A	probably benign	Het
Pcdhac1	A	G	18: 37,224,009 (GRCm39)	N274S	possibly damaging	Het
Plxnc1	T	A	10: 94,630,302 (GRCm39)	K1532N	probably damaging	Het
Polr3e	A	G	7: 120,523,449 (GRCm39)	D14G	probably damaging	Het
Prex1	A	G	2: 166,415,164 (GRCm39)	F1432S	possibly damaging	Het
Prlhr	A	G	19: 60,456,293 (GRCm39)	L91P	probably damaging	Het
Prom1	C	T	5: 44,178,209 (GRCm39)	V508I	probably benign	Het
Rmnd1	T	C	10: 4,357,848 (GRCm39)	Y387C	probably damaging	Het
Sall3	T	A	18: 81,017,575 (GRCm39)	T118S	probably benign	Het
Sf3b1	A	T	1: 55,034,614 (GRCm39)	D1015E	possibly damaging	Het
Sfmbt2	A	G	2: 10,398,155 (GRCm39)	N12S	probably benign	Het
Sohlh1	A	C	2: 25,735,289 (GRCm39)	S198A	probably benign	Het
Sorbs2	T	C	8: 46,198,465 (GRCm39)	S38P	possibly damaging	Het
Spata21	G	A	4: 140,831,354 (GRCm39)	A434T	probably null	Het
Stard13	T	A	5: 151,113,489 (GRCm39)	Q24L	probably damaging	Het
Syne2	G	T	12: 76,014,230 (GRCm39)	M3140I	probably benign	Het
Tango6	T	C	8: 107,415,926 (GRCm39)		probably null	Het
Tdrd9	G	A	12: 111,999,155 (GRCm39)	G757R	probably damaging	Het
Thada	A	C	17: 84,759,265 (GRCm39)	V198G	possibly damaging	Het
Tmf1	T	C	6: 97,138,420 (GRCm39)	N833D	probably damaging	Het
Trav7-3	T	C	14: 53,681,072 (GRCm39)	M38T	probably benign	Het
Ttc38	A	C	15: 85,722,939 (GRCm39)	Q129P	possibly damaging	Het
Uox	A	T	3: 146,333,613 (GRCm39)	K271*	probably null	Het
Urgcp	A	T	11: 5,673,133 (GRCm39)	D47E	probably benign	Het
Usp17lb	A	G	7: 104,490,420 (GRCm39)	I169T	probably damaging	Het
Wdr75	T	C	1: 45,862,596 (GRCm39)	I805T	probably benign	Het
Zfp131	A	G	13: 120,250,446 (GRCm39)	F59S	probably damaging	Het
Zfp383	G	A	7: 29,609,661 (GRCm39)	A21T	possibly damaging	Het
Zfp810	T	C	9: 22,190,278 (GRCm39)	Y210C	possibly damaging	Het
Zfp871	A	G	17: 32,993,826 (GRCm39)	C450R	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
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
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
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'- AGCGTTGTCTTCACGTTTGAC -3'
(R):5'- GGTCCATAAACAAATTTTAGCTGGG -3'

Sequencing Primer
(F):5'- CTTCACGTTTGACGAGCAAG -3'
(R):5'- TACACACATCTAAATCTTC -3'

Posted On

2019-11-26