Incidental Mutation 'R4271:Kif12'
ID |
322152 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif12
|
Ensembl Gene |
ENSMUSG00000028357 |
Gene Name |
kinesin family member 12 |
Synonyms |
N-9 kinesin |
MMRRC Submission |
041076-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R4271 (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 63088983 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Arginine
at position 146
(Q146R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030042]
[ENSMUST00000124739]
[ENSMUST00000156618]
|
AlphaFold |
Q9D2Z8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030042
AA Change: Q146R
PolyPhen 2
Score 0.389 (Sensitivity: 0.90; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000030042 Gene: ENSMUSG00000028357 AA Change: Q146R
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
AA Change: Q146R
PolyPhen 2
Score 0.096 (Sensitivity: 0.93; Specificity: 0.85)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000131760
|
Predicted Effect |
silent
Transcript: ENSMUST00000154234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156618
AA Change: Q146R
PolyPhen 2
Score 0.337 (Sensitivity: 0.90; Specificity: 0.89)
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.9%
|
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931422A03Rik |
A |
G |
2: 103,856,549 (GRCm39) |
|
probably benign |
Het |
Acp6 |
T |
C |
3: 97,073,934 (GRCm39) |
|
probably null |
Het |
Actr6 |
T |
A |
10: 89,553,101 (GRCm39) |
R252S |
probably benign |
Het |
Arl6ip1 |
AAAATAAATAAATAAATAAATAAATA |
AAAATAAATAAATAAATAAATAAATAAATA |
7: 117,721,122 (GRCm39) |
|
probably benign |
Het |
Ash1l |
T |
A |
3: 88,889,347 (GRCm39) |
C409S |
probably benign |
Het |
Aspg |
T |
C |
12: 112,087,629 (GRCm39) |
S327P |
probably damaging |
Het |
B430203G13Rik |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
CCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCTTTCT |
12: 17,974,358 (GRCm39) |
|
noncoding transcript |
Het |
C1galt1 |
T |
C |
6: 7,866,607 (GRCm39) |
F151S |
probably damaging |
Het |
C1qtnf6 |
G |
A |
15: 78,409,466 (GRCm39) |
T127I |
probably benign |
Het |
Ccdc88c |
G |
T |
12: 100,913,478 (GRCm39) |
Q516K |
probably damaging |
Het |
Cdh11 |
T |
A |
8: 103,391,258 (GRCm39) |
D326V |
possibly damaging |
Het |
Cecr2 |
C |
T |
6: 120,739,436 (GRCm39) |
H1360Y |
probably damaging |
Het |
Cfap70 |
T |
C |
14: 20,470,793 (GRCm39) |
E484G |
probably benign |
Het |
Chml |
G |
A |
1: 175,515,360 (GRCm39) |
T187M |
probably benign |
Het |
Chpt1 |
C |
T |
10: 88,317,214 (GRCm39) |
|
probably benign |
Het |
Cmtr1 |
T |
C |
17: 29,916,956 (GRCm39) |
S618P |
probably benign |
Het |
Cspg4b |
G |
T |
13: 113,478,904 (GRCm39) |
V1483L |
possibly damaging |
Het |
Cyfip1 |
A |
T |
7: 55,528,849 (GRCm39) |
M244L |
probably benign |
Het |
Dock1 |
T |
C |
7: 134,335,783 (GRCm39) |
I59T |
probably damaging |
Het |
Duox1 |
T |
C |
2: 122,154,856 (GRCm39) |
F414L |
probably damaging |
Het |
Gm1110 |
A |
T |
9: 26,806,944 (GRCm39) |
|
probably null |
Het |
Gsap |
T |
C |
5: 21,431,348 (GRCm39) |
|
probably null |
Het |
H2-T3 |
T |
C |
17: 36,500,510 (GRCm39) |
Y111C |
probably damaging |
Het |
Hectd4 |
AGCGGCGGCGGCGGCGGCGGCGG |
AGCGGCGGCGGCGGCGGCGG |
5: 121,358,567 (GRCm39) |
|
probably benign |
Het |
Kif26a |
C |
T |
12: 112,139,848 (GRCm39) |
S460F |
probably damaging |
Het |
Klhl15 |
AG |
A |
X: 93,296,718 (GRCm39) |
|
probably null |
Het |
Lims1 |
T |
C |
10: 58,246,026 (GRCm39) |
|
probably null |
Het |
Nbr1 |
T |
C |
11: 101,458,048 (GRCm39) |
Y276H |
possibly damaging |
Het |
Nfe2l3 |
A |
G |
6: 51,433,614 (GRCm39) |
D242G |
probably damaging |
Het |
Oacyl |
T |
A |
18: 65,871,038 (GRCm39) |
L340Q |
probably damaging |
Het |
Or4n4b |
A |
T |
14: 50,535,908 (GRCm39) |
I286N |
probably damaging |
Het |
Or5p80 |
T |
A |
7: 108,229,560 (GRCm39) |
Y120* |
probably null |
Het |
Osbpl5 |
G |
T |
7: 143,249,339 (GRCm39) |
Y543* |
probably null |
Het |
Polr1a |
G |
A |
6: 71,930,006 (GRCm39) |
E898K |
probably benign |
Het |
Pramel51 |
A |
T |
12: 88,145,053 (GRCm39) |
I91K |
probably damaging |
Het |
Rad54l2 |
G |
A |
9: 106,570,825 (GRCm39) |
A1165V |
probably benign |
Het |
Rimbp2 |
T |
G |
5: 128,896,841 (GRCm39) |
N23T |
probably benign |
Het |
Scp2 |
T |
C |
4: 107,942,408 (GRCm39) |
D306G |
probably damaging |
Het |
Slco4a1 |
A |
G |
2: 180,116,003 (GRCm39) |
D713G |
possibly damaging |
Het |
Smarca2 |
T |
A |
19: 26,698,349 (GRCm39) |
|
probably null |
Het |
Spem2 |
T |
C |
11: 69,708,251 (GRCm39) |
Y238C |
probably damaging |
Het |
Srpk2 |
T |
A |
5: 23,753,513 (GRCm39) |
H80L |
possibly damaging |
Het |
Tmem161a |
T |
C |
8: 70,634,162 (GRCm39) |
L365P |
probably damaging |
Het |
Tsnax |
T |
C |
8: 125,759,468 (GRCm39) |
L243P |
probably damaging |
Het |
Ttn |
A |
G |
2: 76,731,979 (GRCm39) |
|
probably benign |
Het |
V1rd19 |
A |
G |
7: 23,702,839 (GRCm39) |
T102A |
probably benign |
Het |
Vmn2r94 |
T |
C |
17: 18,463,940 (GRCm39) |
I783M |
probably damaging |
Het |
Zeb1 |
C |
A |
18: 5,758,985 (GRCm39) |
Q148K |
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 |
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'- TCAGCAAGTCCCAAACCTGG -3'
(R):5'- ATGGACTACGAACTGTGAGATTTC -3'
Sequencing Primer
(F):5'- GTCCCAAACCTGGAAGGG -3'
(R):5'- TCAATGAGATTTCAATGGGGCC -3'
|
Posted On |
2015-06-20 |