Mutagenetix > Incidental Mutation

Incidental Mutation 'R9052:Kif12'

688436

Institutional Source

Beutler Lab

Gene Symbol

Kif12

Ensembl Gene

ENSMUSG00000028357

Gene Name

kinesin family member 12

Synonyms

N-9 kinesin

MMRRC Submission

068878-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.252) question?

Stock #

R9052 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

63083867-63090368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 63090068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 28 (V28M)

Ref Sequence

ENSEMBL: ENSMUSP00000030042 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030042] [ENSMUST00000124739] [ENSMUST00000156618]

AlphaFold

Q9D2Z8

Predicted Effect

probably damaging
Transcript: ENSMUST00000030042
AA Change: V28M

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

SMART Domains

Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: V28M

Domain	Start	End	E-Value	Type
KISc	23	368	4.46e-108	SMART
coiled coil region	376	464	N/A	INTRINSIC
low complexity region	538	554	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000124739
AA Change: V28M

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

Predicted Effect

probably benign
Transcript: ENSMUST00000154234

Predicted Effect

probably damaging
Transcript: ENSMUST00000156618
AA Change: V28M

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.6%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the kinesin superfamily of microtubule-associated molecular motors with functions related to the microtubule cytosekelton. Members of this superfamily play important roles in intracellular transport and cell division. A similar protein in mouse functions in the beta cell antioxidant signaling cascade, acting as a scaffold for the transcription factor specificity protein 1 (Sp1). Mice that lack this gene exhibit beta cell oxidative stress resulting in hypoinsulinemic glucose intolerance. [provided by RefSeq, Jul 2016]

Allele List at MGI

Other mutations in this stock

Total: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110059G10Rik	T	C	9: 122,778,031 (GRCm39)	E71G	probably damaging	Het
2610021A01Rik	G	T	7: 41,275,449 (GRCm39)	G384V	probably benign	Het
4931406B18Rik	T	A	7: 43,147,631 (GRCm39)	R247*	probably null	Het
Abca4	G	T	3: 121,940,908 (GRCm39)	V1576F	possibly damaging	Het
Acsl6	A	T	11: 54,232,615 (GRCm39)	T489S	possibly damaging	Het
Adcy8	C	T	15: 64,792,764 (GRCm39)	R64H	probably benign	Het
Atad2b	C	A	12: 5,015,982 (GRCm39)	F569L	probably damaging	Het
Atp2c1	A	T	9: 105,330,032 (GRCm39)	I266N	probably damaging	Het
Atp8a1	A	G	5: 67,936,301 (GRCm39)		probably null	Het
Coch	T	C	12: 51,640,408 (GRCm39)	M1T	probably null	Het
Col5a3	C	A	9: 20,710,733 (GRCm39)	R537L	unknown	Het
Crb1	C	T	1: 139,171,161 (GRCm39)	R743Q	possibly damaging	Het
Crybg2	T	C	4: 133,803,035 (GRCm39)	F889L	probably damaging	Het
Cyp4f15	C	T	17: 32,911,589 (GRCm39)	T157I	probably damaging	Het
D630045J12Rik	G	T	6: 38,154,544 (GRCm39)	Q1212K	probably damaging	Het
Dennd1a	A	G	2: 37,911,463 (GRCm39)	Y175H	probably damaging	Het
Dhcr7	C	A	7: 143,395,060 (GRCm39)	T192K	possibly damaging	Het
Dlg1	T	A	16: 31,656,942 (GRCm39)	I612N	probably damaging	Het
Dmpk	G	A	7: 18,821,614 (GRCm39)	V291M	probably damaging	Het
Dnajc6	T	C	4: 101,496,617 (GRCm39)	V928A	probably damaging	Het
Dst	A	G	1: 34,206,045 (GRCm39)	Y859C	probably damaging	Het
Dst	C	T	1: 34,236,411 (GRCm39)	Q1592*	probably null	Het
Gm10226	T	A	17: 21,910,959 (GRCm39)	C65S	possibly damaging	Het
Helz2	T	C	2: 180,881,968 (GRCm39)	K275R	possibly damaging	Het
Hltf	A	G	3: 20,152,246 (GRCm39)	T581A	probably damaging	Het
Ighv1-24	C	T	12: 114,736,555 (GRCm39)	C115Y	probably damaging	Het
Il18	C	T	9: 50,489,090 (GRCm39)	L40F	possibly damaging	Het
Isg20	A	G	7: 78,566,390 (GRCm39)	D113G	probably damaging	Het
Itgb3	A	T	11: 104,524,413 (GRCm39)	D183V	probably damaging	Het
Manbal	T	C	2: 157,221,107 (GRCm39)	L28P	probably damaging	Het
Masp1	T	A	16: 23,339,350 (GRCm39)		probably benign	Het
Mfap5	A	G	6: 122,501,463 (GRCm39)	T72A	probably benign	Het
Mier2	G	A	10: 79,384,274 (GRCm39)	R166W	probably damaging	Het
Mrps5	G	A	2: 127,433,876 (GRCm39)		probably benign	Het
Ms4a1	T	A	19: 11,233,954 (GRCm39)	T101S	probably benign	Het
Myo3b	A	G	2: 70,062,747 (GRCm39)	M344V	probably benign	Het
Naaladl1	T	G	19: 6,158,716 (GRCm39)	F283V	probably benign	Het
Nacc1	A	C	8: 85,403,377 (GRCm39)	V166G	probably damaging	Het
Nwd2	A	T	5: 63,961,773 (GRCm39)	R452S	probably damaging	Het
Or1n1b	T	C	2: 36,780,105 (GRCm39)	T252A	probably damaging	Het
Or1x6	G	A	11: 50,938,938 (GRCm39)	M1I	probably null	Het
Or5k16	T	C	16: 58,736,561 (GRCm39)	T148A	probably benign	Het
Or6c214	C	G	10: 129,591,094 (GRCm39)	C75S	possibly damaging	Het
Pik3cg	T	C	12: 32,245,708 (GRCm39)	I847V	possibly damaging	Het
Plcz1	G	A	6: 139,968,905 (GRCm39)	H178Y	probably damaging	Het
Prkdc	T	A	16: 15,508,160 (GRCm39)	M937K	probably benign	Het
Prr14l	A	T	5: 32,987,478 (GRCm39)	C672*	probably null	Het
Rasl11a	C	A	5: 146,782,107 (GRCm39)	D27E	probably benign	Het
Rbm27	T	C	18: 42,465,893 (GRCm39)	S860P	probably damaging	Het
Rfxap	G	A	3: 54,715,155 (GRCm39)		probably benign	Het
Rhbdf2	A	C	11: 116,494,758 (GRCm39)	L306R	probably benign	Het
Rigi	C	A	4: 40,208,459 (GRCm39)	V826L	probably benign	Het
Rnf123	A	T	9: 107,936,930 (GRCm39)	V875E	probably damaging	Het
Sh3bp2	A	G	5: 34,709,164 (GRCm39)		probably benign	Het
Slc7a9	A	G	7: 35,153,017 (GRCm39)	K145R	probably benign	Het
Slco5a1	A	T	1: 13,060,397 (GRCm39)	V108E	possibly damaging	Het
Stat2	A	G	10: 128,117,538 (GRCm39)	E352G	probably damaging	Het
Synj1	A	T	16: 90,735,728 (GRCm39)	S1408R	probably benign	Het
Tent5c	A	T	3: 100,380,618 (GRCm39)	I46K	probably benign	Het
Tgs1	T	A	4: 3,585,166 (GRCm39)	M102K	probably benign	Het
Tnfrsf11a	G	A	1: 105,754,854 (GRCm39)	A309T	possibly damaging	Het
Ttc23	C	A	7: 67,342,687 (GRCm39)	C268*	probably null	Het
Uhrf2	T	C	19: 30,070,236 (GRCm39)	F795S	probably damaging	Het
Urgcp	A	G	11: 5,673,153 (GRCm39)	W41R	probably damaging	Het
Uso1	G	T	5: 92,328,422 (GRCm39)	V340F	probably damaging	Het
Vta1	A	C	10: 14,551,692 (GRCm39)	I169R	probably benign	Het
Zfp317	A	G	9: 19,556,568 (GRCm39)	I59V	probably benign	Het
Zfp799	G	A	17: 33,039,786 (GRCm39)	T160I	probably benign	Het
Zfp955a	G	T	17: 33,461,279 (GRCm39)	H284Q	possibly damaging	Het

Other mutations in Kif12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Kif12	APN	4	63,084,121 (GRCm39)	missense	probably damaging	0.99
IGL01377:Kif12	APN	4	63,088,962 (GRCm39)	missense	probably damaging	1.00
IGL02232:Kif12	APN	4	63,084,732 (GRCm39)	missense	probably benign	0.00
IGL02671:Kif12	APN	4	63,088,694 (GRCm39)	missense	probably benign	0.05
IGL02719:Kif12	APN	4	63,086,033 (GRCm39)	missense	probably benign
IGL03056:Kif12	APN	4	63,085,193 (GRCm39)	missense	probably null	0.00
ANU05:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
ANU23:Kif12	UTSW	4	63,084,121 (GRCm39)	missense	probably damaging	0.99
ANU74:Kif12	UTSW	4	63,089,663 (GRCm39)	frame shift	probably null
ANU74:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
IGL02984:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
R0401:Kif12	UTSW	4	63,087,762 (GRCm39)	splice site	probably benign
R0927:Kif12	UTSW	4	63,087,010 (GRCm39)	missense	possibly damaging	0.71
R1589:Kif12	UTSW	4	63,084,737 (GRCm39)	missense	probably benign	0.00
R2178:Kif12	UTSW	4	63,085,196 (GRCm39)	missense	probably benign	0.00
R2263:Kif12	UTSW	4	63,087,758 (GRCm39)	missense	probably benign	0.00
R2372:Kif12	UTSW	4	63,086,796 (GRCm39)	missense	possibly damaging	0.64
R2404:Kif12	UTSW	4	63,088,790 (GRCm39)	missense	probably damaging	1.00
R3903:Kif12	UTSW	4	63,086,213 (GRCm39)	missense	possibly damaging	0.73
R4126:Kif12	UTSW	4	63,084,674 (GRCm39)	missense	probably benign	0.00
R4271:Kif12	UTSW	4	63,088,983 (GRCm39)	missense	probably benign	0.39
R4386:Kif12	UTSW	4	63,089,455 (GRCm39)	missense	probably damaging	1.00
R4750:Kif12	UTSW	4	63,086,020 (GRCm39)	missense	probably damaging	0.99
R4945:Kif12	UTSW	4	63,086,730 (GRCm39)	critical splice donor site	probably null
R5177:Kif12	UTSW	4	63,086,141 (GRCm39)	missense	probably benign	0.13
R5421:Kif12	UTSW	4	63,089,665 (GRCm39)	missense	probably benign	0.40
R5644:Kif12	UTSW	4	63,084,130 (GRCm39)	missense	possibly damaging	0.75
R5757:Kif12	UTSW	4	63,088,755 (GRCm39)	missense	probably damaging	1.00
R5772:Kif12	UTSW	4	63,084,178 (GRCm39)	missense	probably damaging	1.00
R5858:Kif12	UTSW	4	63,084,647 (GRCm39)	missense	probably benign	0.04
R5929:Kif12	UTSW	4	63,086,754 (GRCm39)	missense	probably damaging	0.96
R6648:Kif12	UTSW	4	63,089,554 (GRCm39)	critical splice donor site	probably null
R7007:Kif12	UTSW	4	63,084,717 (GRCm39)	missense	probably benign
R7108:Kif12	UTSW	4	63,089,442 (GRCm39)	missense	probably benign	0.15
R7171:Kif12	UTSW	4	63,086,931 (GRCm39)	missense	probably damaging	1.00
R7852:Kif12	UTSW	4	63,086,226 (GRCm39)	missense	probably benign	0.13
R8532:Kif12	UTSW	4	63,087,656 (GRCm39)	nonsense	probably null
R9022:Kif12	UTSW	4	63,090,121 (GRCm39)	missense	possibly damaging	0.57
R9029:Kif12	UTSW	4	63,087,704 (GRCm39)	missense	probably damaging	1.00
R9711:Kif12	UTSW	4	63,084,126 (GRCm39)	missense	probably benign
R9727:Kif12	UTSW	4	63,085,978 (GRCm39)	missense	probably damaging	1.00
RF011:Kif12	UTSW	4	63,089,664 (GRCm39)	small insertion	probably benign
RF031:Kif12	UTSW	4	63,089,662 (GRCm39)	small insertion	probably benign
RF036:Kif12	UTSW	4	63,089,664 (GRCm39)	small insertion	probably benign
RF039:Kif12	UTSW	4	63,089,662 (GRCm39)	small insertion	probably benign
RF041:Kif12	UTSW	4	63,089,662 (GRCm39)	small insertion	probably benign
T0975:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
Z1088:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
Z1176:Kif12	UTSW	4	63,090,234 (GRCm39)	missense	possibly damaging	0.95
Z1176:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign
Z1177:Kif12	UTSW	4	63,089,660 (GRCm39)	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- CCTCAGATTCTTTTGCGGGG -3'
(R):5'- TCCTGTCCACTACAAGACATGG -3'

Sequencing Primer
(F):5'- AAGGCTTCTTACCTGCAGAG -3'
(R):5'- CATGGAGGAACGTGGGTCTC -3'

Posted On

2021-11-19