Incidental Mutation 'ANU74:Kif12'
| ID |
262687 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif12
|
| Ensembl Gene |
ENSMUSG00000028357 |
| Gene Name |
kinesin family member 12 |
| Synonyms |
N-9 kinesin |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
ANU74
|
| Quality Score |
214 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
| Type of Mutation |
small insertion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
GGGGC to GGGGCCTCCACCCGGCGGGC
at 63089660 bp (GRCm39)
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000131760
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000154234
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000156618
|
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.2%
- 20x: 95.3%
|
| 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 |
|---|
| Adgra3 |
G |
A |
5: 50,118,380 (GRCm39) |
S1056L |
probably benign |
Het |
| Ankrd26 |
A |
T |
6: 118,529,736 (GRCm39) |
D236E |
probably benign |
Het |
| Capn15 |
C |
T |
17: 26,184,460 (GRCm39) |
W7* |
probably null |
Het |
| Celsr2 |
G |
A |
3: 108,319,815 (GRCm39) |
T999M |
probably damaging |
Het |
| Chrd |
T |
A |
16: 20,560,069 (GRCm39) |
M912K |
possibly damaging |
Het |
| Col9a1 |
A |
G |
1: 24,224,409 (GRCm39) |
D197G |
unknown |
Het |
| Csf1r |
A |
G |
18: 61,250,463 (GRCm39) |
E431G |
probably benign |
Het |
| Eloc |
A |
G |
1: 16,713,574 (GRCm39) |
F115L |
possibly damaging |
Het |
| Fap |
T |
C |
2: 62,378,113 (GRCm39) |
D193G |
probably damaging |
Het |
| Fscn2 |
T |
C |
11: 120,253,162 (GRCm39) |
Y210H |
probably damaging |
Het |
| Fut9 |
G |
C |
4: 25,620,802 (GRCm39) |
T4R |
probably benign |
Het |
| Grb2 |
A |
T |
11: 115,536,733 (GRCm39) |
D131E |
probably benign |
Het |
| Hecw2 |
T |
C |
1: 53,964,853 (GRCm39) |
T658A |
probably benign |
Het |
| Helz2 |
T |
C |
2: 180,876,627 (GRCm39) |
E1289G |
probably benign |
Het |
| Hyou1 |
A |
G |
9: 44,292,560 (GRCm39) |
N92D |
possibly damaging |
Het |
| Irf8 |
A |
C |
8: 121,466,608 (GRCm39) |
I18L |
possibly damaging |
Het |
| Lamc2 |
A |
C |
1: 153,007,581 (GRCm39) |
D864E |
probably benign |
Het |
| Map3k4 |
A |
G |
17: 12,451,863 (GRCm39) |
V1475A |
probably damaging |
Het |
| Mapk8ip3 |
A |
C |
17: 25,119,551 (GRCm39) |
M1030R |
possibly damaging |
Het |
| Mat1a |
A |
G |
14: 40,833,099 (GRCm39) |
D94G |
probably benign |
Het |
| Myh15 |
T |
A |
16: 48,993,295 (GRCm39) |
D1643E |
possibly damaging |
Het |
| Myo15b |
T |
C |
11: 115,769,239 (GRCm39) |
F55L |
probably damaging |
Het |
| Nhlh2 |
A |
T |
3: 101,919,970 (GRCm39) |
M1L |
probably benign |
Het |
| Nup214 |
T |
C |
2: 31,924,978 (GRCm39) |
S1836P |
probably damaging |
Het |
| Olr1 |
G |
A |
6: 129,477,032 (GRCm39) |
R78C |
possibly damaging |
Het |
| Or5m9 |
T |
A |
2: 85,877,655 (GRCm39) |
Y276* |
probably null |
Het |
| Pam16 |
C |
A |
16: 4,434,497 (GRCm39) |
V98F |
probably damaging |
Het |
| Pelp1 |
C |
T |
11: 70,285,913 (GRCm39) |
V652I |
probably damaging |
Het |
| Pole |
A |
G |
5: 110,437,236 (GRCm39) |
H67R |
probably benign |
Het |
| Rbms1 |
G |
T |
2: 60,628,060 (GRCm39) |
A60E |
probably damaging |
Het |
| Recql4 |
A |
T |
15: 76,589,957 (GRCm39) |
M789K |
possibly damaging |
Het |
| Rrn3 |
T |
C |
16: 13,629,397 (GRCm39) |
F571S |
possibly damaging |
Het |
| Ryr3 |
T |
C |
2: 112,661,575 (GRCm39) |
|
probably null |
Het |
| Sec61b |
C |
A |
4: 47,474,922 (GRCm39) |
N26K |
possibly damaging |
Het |
| Serinc1 |
T |
C |
10: 57,395,938 (GRCm39) |
E284G |
probably benign |
Het |
| Slc30a9 |
G |
A |
5: 67,507,195 (GRCm39) |
D496N |
probably damaging |
Het |
| Slc44a4 |
G |
A |
17: 35,140,554 (GRCm39) |
R249H |
probably damaging |
Het |
| Slc6a13 |
A |
C |
6: 121,311,835 (GRCm39) |
D404A |
probably benign |
Het |
| Spata18 |
A |
G |
5: 73,828,456 (GRCm39) |
E225G |
probably damaging |
Het |
| Sspo |
G |
A |
6: 48,437,893 (GRCm39) |
G1351S |
probably damaging |
Het |
| Tgm3 |
T |
C |
2: 129,890,310 (GRCm39) |
V691A |
probably damaging |
Het |
| Tns3 |
C |
T |
11: 8,442,149 (GRCm39) |
R738Q |
probably benign |
Het |
| Tyk2 |
A |
T |
9: 21,027,454 (GRCm39) |
I506N |
probably damaging |
Het |
| Ube2v1 |
G |
A |
2: 167,452,264 (GRCm39) |
T113I |
probably damaging |
Het |
| Vmn1r177 |
A |
G |
7: 23,565,645 (GRCm39) |
V77A |
possibly damaging |
Het |
| Vmn2r14 |
A |
T |
5: 109,366,910 (GRCm39) |
S437T |
probably benign |
Het |
| Vmn2r78 |
G |
C |
7: 86,570,273 (GRCm39) |
V264L |
possibly damaging |
Het |
| Zfp956 |
T |
G |
6: 47,940,507 (GRCm39) |
Y289D |
probably benign |
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 |
|
|
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 |
|
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'- AGTGTAGGTCTTCCCAGAACCAGTC -3'
(R):5'- AGGTAAGAAGCCTTTCCAACCCCG -3'
Sequencing Primer
(F):5'- CAAACGTGAAGACCGTGC -3'
(R):5'- ATGCGTCCAACTGGAGC -3'
|
| Posted On |
2015-02-04 |
Incidental Mutation