Incidental Mutation 'R5757:Kif12'
ID |
445092 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif12
|
Ensembl Gene |
ENSMUSG00000028357 |
Gene Name |
kinesin family member 12 |
Synonyms |
N-9 kinesin |
MMRRC Submission |
043360-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.321)
|
Stock # |
R5757 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 63088755 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tryptophan to Arginine
at position 182
(W182R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000152690
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030042]
[ENSMUST00000124739]
[ENSMUST00000156618]
|
AlphaFold |
Q9D2Z8 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030042
AA Change: W182R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000030042 Gene: ENSMUSG00000028357 AA Change: W182R
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: W182R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.8%
- 10x: 97.4%
- 20x: 95.5%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,933,794 (GRCm39) |
A1204T |
probably benign |
Het |
Adcy5 |
G |
T |
16: 35,092,451 (GRCm39) |
R604L |
probably damaging |
Het |
Ago4 |
A |
T |
4: 126,419,877 (GRCm39) |
N33K |
probably damaging |
Het |
Arid5b |
T |
C |
10: 67,937,909 (GRCm39) |
Y406C |
probably damaging |
Het |
Asgr1 |
A |
C |
11: 69,945,778 (GRCm39) |
H18P |
probably benign |
Het |
Asph |
A |
C |
4: 9,637,722 (GRCm39) |
|
probably null |
Het |
Brd4 |
G |
A |
17: 32,420,272 (GRCm39) |
|
probably benign |
Het |
Ccdc150 |
T |
A |
1: 54,302,779 (GRCm39) |
I133N |
probably damaging |
Het |
Cdon |
A |
C |
9: 35,364,068 (GRCm39) |
H62P |
probably damaging |
Het |
Clec4b1 |
T |
A |
6: 123,046,713 (GRCm39) |
Y157* |
probably null |
Het |
Clip1 |
G |
A |
5: 123,765,460 (GRCm39) |
T810I |
probably benign |
Het |
Crocc |
A |
T |
4: 140,770,875 (GRCm39) |
L184Q |
probably damaging |
Het |
Fat2 |
C |
T |
11: 55,143,172 (GRCm39) |
G4226R |
probably damaging |
Het |
Fbxo30 |
T |
A |
10: 11,166,165 (GRCm39) |
C296S |
probably benign |
Het |
Fndc3a |
T |
C |
14: 72,794,025 (GRCm39) |
K883E |
probably benign |
Het |
Glyr1 |
A |
T |
16: 4,836,856 (GRCm39) |
M436K |
probably benign |
Het |
Gm525 |
A |
T |
11: 88,965,872 (GRCm39) |
Q38L |
probably benign |
Het |
Gnas |
T |
A |
2: 174,187,040 (GRCm39) |
V941D |
probably damaging |
Het |
Hectd4 |
G |
C |
5: 121,486,682 (GRCm39) |
E3226Q |
possibly damaging |
Het |
Ints13 |
G |
A |
6: 146,451,604 (GRCm39) |
R714C |
probably benign |
Het |
Kif21a |
A |
G |
15: 90,835,548 (GRCm39) |
L1272P |
probably damaging |
Het |
Klhl14 |
A |
C |
18: 21,687,791 (GRCm39) |
Y544D |
probably damaging |
Het |
Kntc1 |
T |
C |
5: 123,945,372 (GRCm39) |
|
probably null |
Het |
Lama1 |
G |
A |
17: 68,045,782 (GRCm39) |
R229Q |
possibly damaging |
Het |
Ltbp1 |
T |
A |
17: 75,580,944 (GRCm39) |
|
probably null |
Het |
Map4k5 |
A |
T |
12: 69,871,429 (GRCm39) |
C498S |
probably damaging |
Het |
Myh9 |
A |
T |
15: 77,655,362 (GRCm39) |
V1198E |
probably benign |
Het |
Ncoa6 |
T |
C |
2: 155,253,528 (GRCm39) |
D950G |
probably damaging |
Het |
Obsl1 |
G |
T |
1: 75,469,699 (GRCm39) |
A1106D |
probably damaging |
Het |
Or5m9 |
T |
A |
2: 85,876,910 (GRCm39) |
V28E |
possibly damaging |
Het |
Or8k27 |
T |
C |
2: 86,275,922 (GRCm39) |
I135V |
probably benign |
Het |
Otog |
T |
A |
7: 45,890,545 (GRCm39) |
|
probably null |
Het |
Oxtr |
A |
T |
6: 112,454,222 (GRCm39) |
I14N |
probably damaging |
Het |
Pfkfb3 |
A |
T |
2: 11,485,141 (GRCm39) |
S490R |
probably damaging |
Het |
Polk |
A |
C |
13: 96,620,760 (GRCm39) |
M560R |
probably benign |
Het |
Polq |
C |
T |
16: 36,907,043 (GRCm39) |
H2335Y |
probably benign |
Het |
Prr14 |
T |
A |
7: 127,074,725 (GRCm39) |
V419D |
possibly damaging |
Het |
Rflnb |
A |
G |
11: 75,912,992 (GRCm39) |
V132A |
probably damaging |
Het |
Rxfp1 |
T |
G |
3: 79,568,627 (GRCm39) |
I283L |
possibly damaging |
Het |
Ryr3 |
G |
A |
2: 112,672,320 (GRCm39) |
R1384C |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,337,438 (GRCm39) |
C100S |
probably damaging |
Het |
Sfrp2 |
G |
C |
3: 83,673,933 (GRCm39) |
G29R |
possibly damaging |
Het |
Spop |
A |
G |
11: 95,381,208 (GRCm39) |
H312R |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,727,151 (GRCm39) |
|
probably null |
Het |
Wdr4 |
A |
T |
17: 31,718,063 (GRCm39) |
V337E |
probably damaging |
Het |
Zbtb11 |
A |
G |
16: 55,827,392 (GRCm39) |
N953D |
probably damaging |
Het |
Zfp703 |
C |
T |
8: 27,469,233 (GRCm39) |
P299L |
probably 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 |
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'- TTTCCAGCAGCTTAGGTCCG -3'
(R):5'- GGCTATTAGATCGCGTGCAG -3'
Sequencing Primer
(F):5'- CAGCTTAGGTCCGGGGTG -3'
(R):5'- TCCTACCTGGAGATCTACAATGAG -3'
|
Posted On |
2016-11-21 |