Incidental Mutation 'R0927:Kif12'
ID |
80485 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif12
|
Ensembl Gene |
ENSMUSG00000028357 |
Gene Name |
kinesin family member 12 |
Synonyms |
N-9 kinesin |
MMRRC Submission |
039074-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R0927 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 63087010 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Glycine
at position 305
(R305G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030042]
[ENSMUST00000124739]
[ENSMUST00000156618]
|
AlphaFold |
Q9D2Z8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030042
AA Change: R305G
PolyPhen 2
Score 0.710 (Sensitivity: 0.86; Specificity: 0.92)
|
SMART Domains |
Protein: ENSMUSP00000030042 Gene: ENSMUSG00000028357 AA Change: R305G
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 |
possibly damaging
Transcript: ENSMUST00000156618
AA Change: R305G
PolyPhen 2
Score 0.662 (Sensitivity: 0.86; Specificity: 0.91)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.0%
- 20x: 93.7%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb8 |
T |
C |
5: 24,607,317 (GRCm39) |
L363P |
probably damaging |
Het |
Adam12 |
T |
A |
7: 133,599,959 (GRCm39) |
H85L |
probably damaging |
Het |
Adam34 |
A |
T |
8: 44,104,621 (GRCm39) |
H341Q |
probably damaging |
Het |
Adam34l |
A |
T |
8: 44,078,160 (GRCm39) |
M688K |
probably benign |
Het |
Adam7 |
A |
G |
14: 68,754,133 (GRCm39) |
L322P |
probably damaging |
Het |
Adcy5 |
T |
A |
16: 34,976,613 (GRCm39) |
S49T |
probably benign |
Het |
Arfgap2 |
T |
C |
2: 91,104,150 (GRCm39) |
S374P |
probably benign |
Het |
Arpp19 |
G |
A |
9: 74,944,967 (GRCm39) |
|
probably benign |
Het |
Baz1a |
T |
C |
12: 54,941,773 (GRCm39) |
K1478E |
probably damaging |
Het |
Cdc27 |
G |
T |
11: 104,396,467 (GRCm39) |
A812E |
possibly damaging |
Het |
Chtf8 |
G |
A |
8: 107,612,150 (GRCm39) |
T263I |
probably damaging |
Het |
Clcn6 |
T |
C |
4: 148,113,849 (GRCm39) |
N70D |
probably benign |
Het |
Cntnap5c |
A |
T |
17: 58,349,553 (GRCm39) |
T289S |
possibly damaging |
Het |
Dzip3 |
T |
C |
16: 48,795,840 (GRCm39) |
N177S |
probably damaging |
Het |
Edar |
G |
T |
10: 58,465,313 (GRCm39) |
|
probably null |
Het |
Enam |
T |
A |
5: 88,641,919 (GRCm39) |
N244K |
possibly damaging |
Het |
Fbxw10 |
A |
G |
11: 62,767,770 (GRCm39) |
K874E |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,578,239 (GRCm39) |
E432G |
possibly damaging |
Het |
Grin3b |
G |
A |
10: 79,807,062 (GRCm39) |
R110Q |
probably benign |
Het |
Herc3 |
T |
A |
6: 58,845,748 (GRCm39) |
V423D |
possibly damaging |
Het |
Ifit2 |
A |
T |
19: 34,550,984 (GRCm39) |
T175S |
probably benign |
Het |
Kcnj8 |
T |
G |
6: 142,511,627 (GRCm39) |
I327L |
possibly damaging |
Het |
Kcns2 |
A |
T |
15: 34,839,242 (GRCm39) |
I202F |
probably benign |
Het |
Limch1 |
A |
G |
5: 67,154,576 (GRCm39) |
D362G |
probably damaging |
Het |
Lrba |
T |
C |
3: 86,687,540 (GRCm39) |
I2815T |
probably damaging |
Het |
Lrrtm1 |
G |
T |
6: 77,221,843 (GRCm39) |
M433I |
probably damaging |
Het |
Myh7b |
A |
G |
2: 155,462,040 (GRCm39) |
D312G |
probably damaging |
Het |
Nrxn1 |
A |
T |
17: 90,344,758 (GRCm39) |
I382N |
probably damaging |
Het |
Nudt6 |
C |
T |
3: 37,459,502 (GRCm39) |
R161H |
probably benign |
Het |
Or10w1 |
T |
A |
19: 13,631,816 (GRCm39) |
W8R |
probably damaging |
Het |
Or11g2 |
A |
C |
14: 50,856,044 (GRCm39) |
M122L |
possibly damaging |
Het |
Or4m1 |
A |
T |
14: 50,558,186 (GRCm39) |
Y35* |
probably null |
Het |
Or7e166 |
C |
T |
9: 19,624,945 (GRCm39) |
A274V |
probably benign |
Het |
Pmf1 |
A |
T |
3: 88,303,369 (GRCm39) |
V64D |
probably damaging |
Het |
Pomgnt1 |
T |
A |
4: 116,009,048 (GRCm39) |
V29D |
probably damaging |
Het |
Pramel22 |
T |
A |
4: 143,380,790 (GRCm39) |
H411L |
possibly damaging |
Het |
Pramel26 |
A |
T |
4: 143,539,378 (GRCm39) |
D38E |
probably benign |
Het |
Prex1 |
C |
T |
2: 166,428,457 (GRCm39) |
A925T |
probably benign |
Het |
Pus3 |
A |
G |
9: 35,476,327 (GRCm39) |
Y72C |
probably damaging |
Het |
Rnf20 |
T |
C |
4: 49,642,176 (GRCm39) |
S247P |
probably damaging |
Het |
Rnf213 |
T |
A |
11: 119,305,396 (GRCm39) |
D542E |
probably benign |
Het |
Sidt1 |
T |
C |
16: 44,063,895 (GRCm39) |
D786G |
probably benign |
Het |
Sirt6 |
A |
T |
10: 81,458,475 (GRCm39) |
D219E |
probably damaging |
Het |
Slc36a2 |
A |
T |
11: 55,072,411 (GRCm39) |
I67N |
probably damaging |
Het |
Slc47a1 |
A |
G |
11: 61,264,248 (GRCm39) |
F57S |
probably damaging |
Het |
Spg11 |
T |
A |
2: 121,924,968 (GRCm39) |
T756S |
probably damaging |
Het |
Sptbn1 |
C |
A |
11: 30,071,591 (GRCm39) |
R1447L |
probably damaging |
Het |
Tcf7l2 |
A |
G |
19: 55,907,387 (GRCm39) |
M340V |
probably damaging |
Het |
Thap1 |
T |
C |
8: 26,652,733 (GRCm39) |
V157A |
probably benign |
Het |
Ubash3b |
G |
A |
9: 40,934,853 (GRCm39) |
Q354* |
probably null |
Het |
Ubtd1 |
G |
A |
19: 42,020,460 (GRCm39) |
W68* |
probably null |
Het |
Wdr64 |
G |
T |
1: 175,620,647 (GRCm39) |
R793L |
probably damaging |
Het |
Zbtb24 |
C |
T |
10: 41,327,432 (GRCm39) |
T106I |
probably benign |
Het |
Zbtb26 |
T |
C |
2: 37,326,337 (GRCm39) |
N233S |
possibly damaging |
Het |
Zcchc24 |
A |
T |
14: 25,757,585 (GRCm39) |
N99K |
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 |
|
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 |
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'- GCATATCGCAGAGTGCTGAGAGTC -3'
(R):5'- CACATCTGTGCCTTCAGAGATGCC -3'
Sequencing Primer
(F):5'- AGTCTCAGGAAGGCACTGC -3'
(R):5'- TTCAGAGATGCCGGTCTGC -3'
|
Posted On |
2013-11-07 |