Mutagenetix > Incidental Mutation

Incidental Mutation 'R5929:Kif12'

460077

Institutional Source

Beutler Lab

Gene Symbol

Kif12

Ensembl Gene

ENSMUSG00000028357

Gene Name

kinesin family member 12

Synonyms

N-9 kinesin

MMRRC Submission

044124-MU

Accession Numbers

Essential gene?

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

Stock #

R5929 (G1)

Quality Score

202

Status

Validated

Chromosome

Chromosomal Location

63083867-63090368 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 63086754 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 361 (T361A)

Ref Sequence

ENSEMBL: ENSMUSP00000152690 (fasta)

Gene Model

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

AlphaFold

Q9D2Z8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000030042
AA Change: T361A

PolyPhen 2 Score 0.929 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: T361A

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

noncoding transcript
Transcript: ENSMUST00000131760

Predicted Effect

probably benign
Transcript: ENSMUST00000154234

Predicted Effect

probably damaging
Transcript: ENSMUST00000156618
AA Change: T361A

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)

Meta Mutation Damage Score

0.0671

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 92.7%

Validation Efficiency

99% (84/85)

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
Ang4	C	T	14: 52,001,708 (GRCm39)	C80Y	probably damaging	Het
Ankib1	T	C	5: 3,819,633 (GRCm39)	I95M	possibly damaging	Het
Ankrd1	T	C	19: 36,095,277 (GRCm39)	E137G	possibly damaging	Het
Car6	T	C	4: 150,280,592 (GRCm39)	H84R	probably damaging	Het
Casd1	T	A	6: 4,629,993 (GRCm39)	L463Q	probably damaging	Het
Casz1	T	A	4: 149,023,426 (GRCm39)	L491Q	probably damaging	Het
Casz1	C	T	4: 149,023,153 (GRCm39)	S400L	probably damaging	Het
Catsperd	A	T	17: 56,959,493 (GRCm39)	H311L	probably benign	Het
Ccdc83	A	G	7: 89,885,524 (GRCm39)		probably benign	Het
Cd163	G	A	6: 124,303,568 (GRCm39)		probably null	Het
Cd244a	A	T	1: 171,386,935 (GRCm39)	R15W	probably damaging	Het
Ces3b	A	G	8: 105,819,797 (GRCm39)	K490R	probably damaging	Het
Chordc1	T	C	9: 18,215,658 (GRCm39)	S137P	possibly damaging	Het
Col4a1	T	A	8: 11,266,788 (GRCm39)	T1140S	probably benign	Het
Col6a4	T	C	9: 105,940,243 (GRCm39)	E1229G	probably benign	Het
Cr2	A	G	1: 194,853,419 (GRCm39)	S20P	possibly damaging	Het
Dcaf13	T	A	15: 39,007,048 (GRCm39)	H327Q	possibly damaging	Het
Depdc5	G	T	5: 33,132,850 (GRCm39)	E646*	probably null	Het
Dnah5	G	A	15: 28,311,353 (GRCm39)	M1777I	probably benign	Het
Dnah5	G	T	15: 28,311,354 (GRCm39)	A1778S	probably damaging	Het
Dnajc5b	T	C	3: 19,601,019 (GRCm39)	Y39H	probably damaging	Het
Dsp	A	T	13: 38,379,410 (GRCm39)	I1453F	possibly damaging	Het
Fyn	T	A	10: 39,427,457 (GRCm39)	W447R	probably damaging	Het
Gabra6	T	A	11: 42,208,389 (GRCm39)	M148L	probably damaging	Het
Gcfc2	T	A	6: 81,923,580 (GRCm39)	V32D	probably damaging	Het
Ginm1	G	T	10: 7,649,814 (GRCm39)	L160I	probably benign	Het
Gm19345	A	G	7: 19,591,747 (GRCm39)	Y221H	probably damaging	Het
Gpr155	G	A	2: 73,204,011 (GRCm39)	R268*	probably null	Het
Hacl1	T	A	14: 31,338,345 (GRCm39)	M411L	probably benign	Het
Hdac3	C	T	18: 38,074,394 (GRCm39)		probably benign	Het
Hmcn1	C	A	1: 150,453,047 (GRCm39)	E5423*	probably null	Het
Ipo4	T	C	14: 55,868,646 (GRCm39)	H454R	probably benign	Het
Itpr1	A	T	6: 108,400,297 (GRCm39)	I1693F	probably benign	Het
Kif21b	A	G	1: 136,078,945 (GRCm39)	E431G	probably damaging	Het
Kif27	C	T	13: 58,491,784 (GRCm39)	A452T	probably benign	Het
Kifbp	A	T	10: 62,395,181 (GRCm39)	I487N	probably damaging	Het
Lhcgr	A	T	17: 89,050,436 (GRCm39)	Y363*	probably null	Het
Lrrc8d	A	T	5: 105,960,472 (GRCm39)	K294I	probably damaging	Het
Mapk3	A	C	7: 126,359,030 (GRCm39)		probably benign	Het
Mogat1	A	T	1: 78,500,370 (GRCm39)	I145F	probably benign	Het
Mtmr7	T	C	8: 41,011,399 (GRCm39)		probably null	Het
Ndufaf6	T	C	4: 11,051,150 (GRCm39)	N317D	probably benign	Het
Nfe2l1	G	T	11: 96,718,185 (GRCm39)	Q117K	probably damaging	Het
Odad3	T	C	9: 21,913,718 (GRCm39)	E18G	possibly damaging	Het
Olfm3	T	G	3: 114,895,529 (GRCm39)	I137S	probably damaging	Het
Or4f7d-ps1	T	A	2: 111,674,631 (GRCm39)		noncoding transcript	Het
Otub1	G	A	19: 7,177,350 (GRCm39)	S99F	probably damaging	Het
Padi2	T	G	4: 140,671,848 (GRCm39)		probably null	Het
Paip1	C	T	13: 119,582,326 (GRCm39)	T268I	probably damaging	Het
Pak1ip1	T	C	13: 41,158,276 (GRCm39)	S50P	probably benign	Het
Pcdhb18	G	A	18: 37,623,537 (GRCm39)	R289Q	probably benign	Het
Phkb	A	G	8: 86,697,543 (GRCm39)	I451V	probably benign	Het
Plcg1	T	A	2: 160,595,522 (GRCm39)		probably null	Het
Prg4	A	G	1: 150,329,880 (GRCm39)	F722S	probably benign	Het
Prss3	T	C	6: 41,353,738 (GRCm39)		probably null	Het
Psmd3	C	T	11: 98,586,422 (GRCm39)	P530L	probably damaging	Het
Rims1	A	T	1: 22,507,322 (GRCm39)	D609E	probably damaging	Het
Sema3f	T	C	9: 107,569,392 (GRCm39)	Y82C	probably damaging	Het
Shoc1	G	T	4: 59,092,497 (GRCm39)	S228*	probably null	Het
Slc35b2	G	T	17: 45,877,587 (GRCm39)	W238L	probably benign	Het
Sox12	T	C	2: 152,239,308 (GRCm39)	Y104C	probably damaging	Het
Stx5a	T	G	19: 8,719,675 (GRCm39)	D13E	probably damaging	Het
Tlr7	C	A	X: 166,089,878 (GRCm39)	G536V	probably damaging	Het
Tspan12	A	G	6: 21,772,746 (GRCm39)	S220P	possibly damaging	Het
Utp11	T	C	4: 124,576,036 (GRCm39)	T173A	probably damaging	Het
Wrnip1	G	C	13: 32,990,949 (GRCm39)	D403H	probably damaging	Het
Xpnpep1	T	C	19: 53,001,920 (GRCm39)	T109A	probably damaging	Het
Zfp354b	A	T	11: 50,813,282 (GRCm39)	F548I	probably damaging	Het
Zup1	A	T	10: 33,825,043 (GRCm39)	Y146*	probably null	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
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
R9052:Kif12	UTSW	4	63,090,068 (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'- CCAGACTCTGTGACATAGACC -3'
(R):5'- GACAGCAAGCTCACCAAGTTG -3'

Sequencing Primer
(F):5'- GTGACATAGACCCTTGGCTATGAC -3'
(R):5'- CAAGTTGCTGGCAGACTCACTTG -3'

Posted On

2017-02-28