Mutagenetix > Incidental Mutations

Incidental Mutation 'RF041:Kif12'

604811

Institutional Source

Beutler Lab

Gene Symbol

Kif12

Ensembl Gene

ENSMUSG00000028357

Gene Name

kinesin family member 12

Synonyms

N-9 kinesin

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.222) question?

Stock #

RF041 (G1)

Quality Score

214.458

Status

Not validated

Chromosome

Chromosomal Location

63165630-63172131 bp(-) (GRCm38)

Type of Mutation

small insertion (5 aa in frame mutation)

DNA Base Change (assembly)

GGC to GGCCTCCACCCGGCGTGC at 63171425 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000152690 (fasta)

Gene Model

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

AlphaFold

Q9D2Z8

Predicted Effect

probably benign
Transcript: ENSMUST00000030042

SMART Domains

Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357

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 benign
Transcript: ENSMUST00000124739

Predicted Effect

probably benign
Transcript: ENSMUST00000154234

Predicted Effect

probably benign
Transcript: ENSMUST00000156618

Coding Region Coverage

1x: 99.8%
3x: 99.7%
10x: 99.4%
20x: 98.7%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a 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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930447C04Rik	TGAGGA	TGA	12: 72,881,276		probably benign	Het
5430401F13Rik	CCAGCAAAAACAGAAAGGAAAAGG	CCAGCAAAAACAGAAAGGAAAAGGAGGCCAGCAAAAACAGAAAGGAAAAGG	6: 131,552,873		probably benign	Het
5430401F13Rik	AAAGGTGGC	AAAGGTGGCAAGCAAAAACAGAAAGGAGAAGGTGGC	6: 131,552,892		probably benign	Het
5430401F13Rik	AGGTGGCCAG	AGGTGGCCAGCAAAAACAGAAAGGAAAAGGTGGCCAG	6: 131,552,894		probably benign	Het
Abcf1	CTCTTC	CTC	17: 35,963,201		probably benign	Het
Acap3	GGCTGC	GGCTGCGGCATCCTGTGCTGC	4: 155,905,100		probably benign	Het
AI837181	GGC	GGCTGC	19: 5,425,229		probably benign	Het
Arid1b	CGG	CGGTGG	17: 4,995,595		probably benign	Het
AY761185	CACTGTGGG	C	8: 20,943,912		probably null	Het
Btnl1	C	T	17: 34,381,368	T246M	probably benign	Het
Cdc40	C	T	10: 40,843,123	D337N	probably damaging	Het
Cmtm1	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT	8: 104,309,470		probably benign	Het
Cul9	CCT	CCTACT	17: 46,500,854		probably null	Het
Defb22	GCTGGCCTTTGC	GCTGGCCTTTGCCGCAGACCTGGCCTTTGC	2: 152,485,823		probably benign	Het
Dmkn	GGGGTGGAAG	GGGGTGGAAGGGGTGGAAGTGGTGGAAGGGGTGGAAG	7: 30,767,173		probably benign	Het
Flywch1	CTCACCCACTCCTGGTGT	CTCACCCACTCCTGGTGTGGGGAGGCTACGTAATCACCCACTCCTGGTGT	17: 23,762,161		probably null	Het
Flywch1	GT	GTGGGGAGGCTACGTACTCACCCACTCCTGGTTT	17: 23,762,177		probably null	Het
Gabre	CTCCGG	CTCCGGATCCGG	X: 72,270,049		probably benign	Het
Gm8369	GTGTGT	GTGTGTATGTGT	19: 11,511,758		probably benign	Het
Gykl1	G	A	18: 52,694,416	R232Q	probably benign	Het
Il2	GG	GGGCTTGAAGTGCG	3: 37,125,842		probably benign	Het
Iqcf4	CTTTTCCTTTT	CTTTTCCTTTTCCTTTTCCTTTTCCTTTTACTTTTCATTTTCCTTTT	9: 106,570,613		probably null	Het
Kmt2c	TG	TGTTGCAG	5: 25,315,775		probably benign	Het
Lce1m	CTGCTGCTGCC	CTGCTGCTGCCCTTGCTGCTGCC	3: 93,018,141		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,826		probably benign	Het
Mamld1	AGC	AGCCGC	X: 71,118,829		probably benign	Het
Med12l	AGC	AGCTGC	3: 59,275,985		probably benign	Het
Med12l	GC	GCACC	3: 59,275,995		probably benign	Het
Nefh	CCTCACCTGGGG	CCTCACCTGGGGCCTTGGGCTCACCTGGGG	11: 4,941,039		probably benign	Het
Nf2	AAAAG	A	11: 4,829,936		probably null	Het
Ngfr	CAGG	C	11: 95,587,511		probably benign	Het
Nusap1	GATACACGTTAGCAGTGAGGAGCAAGCTGA	GATACACGTTAGCAGTGAGGAGCAAGCTGATATACACGTTAGCAGTGAGGAGCAAGCTGA	2: 119,627,579		probably benign	Het
Nusap1	GTGAGGAGCAAGCTGA	GTGAGGAGCAAGCTGAAATACACGTTAGCAATGAGGAGCAAGCTGA	2: 119,627,593		probably benign	Het
Nusap1	GAGA	GAGATACACGTTAGCAGTGAGGAGCAAGCTTAGA	2: 119,627,607		probably null	Het
Phc1	TG	TGCTGCGG	6: 122,323,600		probably benign	Het
Pnmal1	CAACATC	CAACATCTCATGATGCACCTGCTTAAACATC	7: 16,961,444		probably null	Het
Ptprb	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	GAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACTGCAAAGACCCTCGGGAGCACT	10: 116,283,677		probably benign	Het
Setd1a	GGTGGTGGT	GGTGGTGGTCGTGGTGGT	7: 127,785,332		probably benign	Het
Sfr1	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCCCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	ACCGACTTCACCTGCCGCTCCTCAGCCCAGGGAGAATCCACCATCACCCC	19: 47,732,868		probably benign	Het
Slc39a4	TGTGGTC	TGTGGTCATCATGATCACCATGGTCACCATGATCACGGTGGTC	15: 76,614,866		probably benign	Het
Smarca2	AGC	AGCCCCTGC	19: 26,631,021		probably benign	Het
Son	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	CATGGACTCCCAGATGTTAGCAACTAGCTCTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCAGTATGGACTCCCAGATGTTAGCAACCAGCTCCATGGACTCCCAGATGTTAGCAAC	16: 91,656,691		probably benign	Het
Tcof1	AGATCCCCTTGGC	AGATCCCCTTGGCTGCTGAGATGGGCACTTTCCCAGCGATCCCCTTGGC	18: 60,833,572		probably benign	Het
Tcof1	CCCCTTG	CCCCTTGACTGCTGAGATGGGCACTTTCCCAGAGATGCCCTTG	18: 60,833,576		probably benign	Het
Tfeb	GCA	GCATCA	17: 47,786,100		probably benign	Het
Tmem59	T	TGTTTGTTG	4: 107,190,532		probably benign	Het
Tob1	CACA	CACAACA	11: 94,214,451		probably benign	Het
Ubtf	CTTC	CTTCTTC	11: 102,306,945		probably benign	Het
Unc13b	AGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	AGCCAGAGCCAGAGCCAGGGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAGAGCCAG	4: 43,177,338		probably benign	Het
Usp19	GTGTGTGTGTGTGTGTGTGTGTGTGT	GTGTGTGTGTGTGTGTGTGTGTGTGTGT	9: 108,493,988		unknown	Het

Other mutations in Kif12

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01306:Kif12	APN	4	63165884	missense	probably damaging	0.99
IGL01377:Kif12	APN	4	63170725	missense	probably damaging	1.00
IGL02232:Kif12	APN	4	63166495	missense	probably benign	0.00
IGL02671:Kif12	APN	4	63170457	missense	probably benign	0.05
IGL02719:Kif12	APN	4	63167796	missense	probably benign
IGL03056:Kif12	APN	4	63166956	missense	probably null	0.00
ANU05:Kif12	UTSW	4	63171423	small insertion	probably benign
ANU23:Kif12	UTSW	4	63165884	missense	probably damaging	0.99
ANU74:Kif12	UTSW	4	63171423	small insertion	probably benign
ANU74:Kif12	UTSW	4	63171426	frame shift	probably null
IGL02984:Kif12	UTSW	4	63171423	small insertion	probably benign
R0401:Kif12	UTSW	4	63169525	splice site	probably benign
R0927:Kif12	UTSW	4	63168773	missense	possibly damaging	0.71
R1589:Kif12	UTSW	4	63166500	missense	probably benign	0.00
R2178:Kif12	UTSW	4	63166959	missense	probably benign	0.00
R2263:Kif12	UTSW	4	63169521	missense	probably benign	0.00
R2372:Kif12	UTSW	4	63168559	missense	possibly damaging	0.64
R2404:Kif12	UTSW	4	63170553	missense	probably damaging	1.00
R3903:Kif12	UTSW	4	63167976	missense	possibly damaging	0.73
R4126:Kif12	UTSW	4	63166437	missense	probably benign	0.00
R4271:Kif12	UTSW	4	63170746	missense	probably benign	0.39
R4386:Kif12	UTSW	4	63171218	missense	probably damaging	1.00
R4750:Kif12	UTSW	4	63167783	missense	probably damaging	0.99
R4945:Kif12	UTSW	4	63168493	critical splice donor site	probably null
R5177:Kif12	UTSW	4	63167904	missense	probably benign	0.13
R5421:Kif12	UTSW	4	63171428	missense	probably benign	0.40
R5644:Kif12	UTSW	4	63165893	missense	possibly damaging	0.75
R5757:Kif12	UTSW	4	63170518	missense	probably damaging	1.00
R5772:Kif12	UTSW	4	63165941	missense	probably damaging	1.00
R5858:Kif12	UTSW	4	63166410	missense	probably benign	0.04
R5929:Kif12	UTSW	4	63168517	missense	probably damaging	0.96
R6648:Kif12	UTSW	4	63171317	critical splice donor site	probably null
R7007:Kif12	UTSW	4	63166480	missense	probably benign
R7108:Kif12	UTSW	4	63171205	missense	probably benign	0.15
R7171:Kif12	UTSW	4	63168694	missense	probably damaging	1.00
R7852:Kif12	UTSW	4	63167989	missense	probably benign	0.13
R8532:Kif12	UTSW	4	63169419	nonsense	probably null
R9022:Kif12	UTSW	4	63171884	missense	possibly damaging	0.57
R9029:Kif12	UTSW	4	63169467	missense	probably damaging	1.00
R9052:Kif12	UTSW	4	63171831	missense	probably damaging	1.00
RF011:Kif12	UTSW	4	63171427	small insertion	probably benign
RF031:Kif12	UTSW	4	63171425	small insertion	probably benign
RF036:Kif12	UTSW	4	63171427	small insertion	probably benign
RF039:Kif12	UTSW	4	63171425	small insertion	probably benign
T0975:Kif12	UTSW	4	63171423	small insertion	probably benign
Z1088:Kif12	UTSW	4	63171423	small insertion	probably benign
Z1176:Kif12	UTSW	4	63171423	small insertion	probably benign
Z1176:Kif12	UTSW	4	63171997	missense	possibly damaging	0.95
Z1177:Kif12	UTSW	4	63171423	small insertion	probably benign

Predicted Primers

PCR Primer
(F):5'- TCTGGCCAAACGTGAAGAC -3'
(R):5'- ATGCGTCCAACTGGAGCAAC -3'

Sequencing Primer
(F):5'- GCCAAACGTGAAGACCGTGC -3'
(R):5'- CAACCTTGCTTTAGGACCCC -3'

Posted On

2019-12-04