Mutagenetix > Incidental Mutation

Incidental Mutation 'R1983:Kif11'

220249

Institutional Source

Beutler Lab

Gene Symbol

Kif11

Ensembl Gene

ENSMUSG00000012443

Gene Name

kinesin family member 11

Synonyms

Eg5, Knsl1, Kifl1

MMRRC Submission

039995-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R1983 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

37364851-37410307 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 37379224 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Isoleucine at position 305 (T305I)

Ref Sequence

ENSEMBL: ENSMUSP00000012587 (fasta)

Gene Model

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

AlphaFold

Q6P9P6

Predicted Effect

possibly damaging
Transcript: ENSMUST00000012587
AA Change: T305I

PolyPhen 2 Score 0.779 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000012587
Gene: ENSMUSG00000012443
AA Change: T305I

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: 98.5%
10x: 97.0%
20x: 94.7%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600012H06Rik	T	A	17: 15,164,272 (GRCm39)	V133E	probably damaging	Het
Aco1	G	A	4: 40,175,845 (GRCm39)	G160S	probably benign	Het
Actn2	C	T	13: 12,293,696 (GRCm39)	R608H	probably benign	Het
Adora2a	A	C	10: 75,169,480 (GRCm39)	S315R	probably benign	Het
Arhgap42	T	C	9: 9,017,018 (GRCm39)	Y382C	probably damaging	Het
Arsi	G	A	18: 61,049,723 (GRCm39)	G202E	probably benign	Het
Atg4c	A	G	4: 99,116,812 (GRCm39)	Y318C	probably damaging	Het
Baz2a	C	T	10: 127,959,828 (GRCm39)	T1408I	probably benign	Het
Bbx	T	A	16: 50,029,480 (GRCm39)	Q663L	possibly damaging	Het
Bltp1	A	G	3: 36,942,014 (GRCm39)	D273G	probably null	Het
Btbd3	T	G	2: 138,125,608 (GRCm39)	L264R	probably damaging	Het
Cfi	T	C	3: 129,662,194 (GRCm39)	I391T	probably damaging	Het
Chadl	T	C	15: 81,578,097 (GRCm39)	I45V	probably benign	Het
Chd5	C	A	4: 152,469,123 (GRCm39)	A1853D	possibly damaging	Het
Cmas	G	T	6: 142,716,312 (GRCm39)	D251Y	probably damaging	Het
Cyp2d10	A	G	15: 82,290,200 (GRCm39)	M90T	probably benign	Het
D630003M21Rik	A	G	2: 158,050,341 (GRCm39)	F714L	probably benign	Het
Dguok	A	T	6: 83,464,110 (GRCm39)	Y126*	probably null	Het
Dnai1	A	G	4: 41,603,232 (GRCm39)	K172E	probably benign	Het
Dnai2	T	A	11: 114,626,682 (GRCm39)		probably null	Het
Efcab6	A	T	15: 83,777,163 (GRCm39)		probably benign	Het
Eln	A	T	5: 134,765,194 (GRCm39)		probably null	Het
Epor	T	C	9: 21,870,696 (GRCm39)	T395A	probably benign	Het
Evc2	G	T	5: 37,573,275 (GRCm39)	E996*	probably null	Het
Fam124b	T	A	1: 80,191,364 (GRCm39)	E6D	probably benign	Het
Filip1	T	A	9: 79,767,374 (GRCm39)	K146N	probably damaging	Het
Filip1l	T	C	16: 57,391,637 (GRCm39)	S742P	probably damaging	Het
Fsip2	G	T	2: 82,810,175 (GRCm39)	V2165L	probably benign	Het
Gcdh	A	T	8: 85,617,539 (GRCm39)	V227E	possibly damaging	Het
Gm12185	T	C	11: 48,806,183 (GRCm39)	N336S	probably benign	Het
Gm12695	G	T	4: 96,627,214 (GRCm39)	A399E	possibly damaging	Het
Gm16503	T	A	4: 147,625,749 (GRCm39)	V81E	unknown	Het
Gpr137c	T	C	14: 45,517,428 (GRCm39)	V388A	probably benign	Het
Hgf	A	G	5: 16,766,010 (GRCm39)	T49A	possibly damaging	Het
Hspa1a	G	T	17: 35,189,938 (GRCm39)	R322S	probably benign	Het
Jak3	A	T	8: 72,131,019 (GRCm39)	Q13L	possibly damaging	Het
Jak3	A	G	8: 72,140,780 (GRCm39)	R1098G	probably benign	Het
Lcor	T	A	19: 41,546,806 (GRCm39)	V130E	probably damaging	Het
Lmo2	T	C	2: 103,811,407 (GRCm39)	Y147H	probably damaging	Het
Lrp1b	C	T	2: 41,401,416 (GRCm39)		probably null	Het
Mdga1	G	A	17: 30,069,579 (GRCm39)	R430C	probably damaging	Het
Mfsd12	T	A	10: 81,198,090 (GRCm39)		probably null	Het
Mmp27	T	A	9: 7,578,898 (GRCm39)		probably null	Het
Mtnr1a	A	T	8: 45,540,471 (GRCm39)	N144I	probably benign	Het
Mycbp2	T	C	14: 103,383,407 (GRCm39)	T3563A	probably damaging	Het
Myef2	T	A	2: 124,940,765 (GRCm39)	M355L	probably benign	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or5b104	A	G	19: 13,072,748 (GRCm39)	I88T	probably benign	Het
Or5p51	C	T	7: 107,444,619 (GRCm39)	G107D	probably benign	Het
Or8k27	T	A	2: 86,275,420 (GRCm39)	H302L	probably benign	Het
Parg	A	G	14: 31,939,653 (GRCm39)	K560E	probably damaging	Het
Pck2	G	A	14: 55,781,525 (GRCm39)		probably null	Het
Pdcd6	T	C	13: 74,452,119 (GRCm39)	I174V	probably benign	Het
Pomgnt1	T	C	4: 116,009,066 (GRCm39)	L57S	probably damaging	Het
Pomgnt1	C	A	4: 116,009,117 (GRCm39)	P74Q	probably benign	Het
Prdm4	T	C	10: 85,743,817 (GRCm39)	Y146C	probably damaging	Het
Prl2c2	G	C	13: 13,176,786 (GRCm39)	T47R	probably damaging	Het
Prune2	A	G	19: 16,998,006 (GRCm39)	M248V	probably damaging	Het
Ric8b	T	A	10: 84,837,702 (GRCm39)	M503K	probably damaging	Het
Ror2	C	T	13: 53,264,444 (GRCm39)	V871M	probably benign	Het
Ryr1	T	C	7: 28,758,897 (GRCm39)	N3427S	possibly damaging	Het
Ryr2	A	G	13: 11,600,288 (GRCm39)		probably null	Het
Scimp	C	T	11: 70,691,540 (GRCm39)	V30I	probably damaging	Het
Skint4	A	G	4: 112,003,689 (GRCm39)	E374G	probably benign	Het
Slc6a20a	A	G	9: 123,469,652 (GRCm39)	Y482H	probably damaging	Het
Slitrk5	A	G	14: 111,917,821 (GRCm39)	S482G	probably benign	Het
Spopfm2	T	G	3: 94,083,601 (GRCm39)	D70A	possibly damaging	Het
Strc	T	A	2: 121,201,518 (GRCm39)	M1229L	possibly damaging	Het
Tasor2	G	T	13: 3,624,853 (GRCm39)	T1699K	possibly damaging	Het
Terf2	T	C	8: 107,809,640 (GRCm39)	Y226C	probably damaging	Het
Tex10	A	T	4: 48,460,059 (GRCm39)	L431I	possibly damaging	Het
Tnc	A	G	4: 63,902,867 (GRCm39)	V1470A	possibly damaging	Het
Ttll13	T	C	7: 79,903,364 (GRCm39)	I248T	possibly damaging	Het
Ttn	T	C	2: 76,619,369 (GRCm39)	N16031S	possibly damaging	Het
Ttn	T	A	2: 76,587,104 (GRCm39)	K21631M	probably damaging	Het
Uroc1	A	T	6: 90,322,351 (GRCm39)	S292C	probably damaging	Het
Vmn1r80	A	T	7: 11,927,588 (GRCm39)	M233L	probably benign	Het
Wdr31	A	T	4: 62,378,840 (GRCm39)	M129K	probably damaging	Het
Wnk1	A	T	6: 119,914,539 (GRCm39)	N1754K	probably damaging	Het
Xirp1	G	A	9: 119,845,695 (GRCm39)	Q1063*	probably null	Het
Zfp799	C	A	17: 33,041,084 (GRCm39)	V32L	probably damaging	Het
Zfyve9	A	T	4: 108,546,386 (GRCm39)	D874E	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- CATCAACTAGCTTTGAAGTGGGAG -3'
(R):5'- ACAGCTAAGAAAGGCTTATAGTTCC -3'

Sequencing Primer
(F):5'- CTTTGAAGTGGGAGAAGGAATTTG -3'
(R):5'- AAAGGCTTATAGTTCCCACGG -3'

Posted On

2014-08-25