Incidental Mutation 'IGL02671:Kif12'
| ID |
302927 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02671
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 63088694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 202
(E202G)
|
| 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: E202G
PolyPhen 2
Score 0.051 (Sensitivity: 0.94; Specificity: 0.83)
|
| SMART Domains |
Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: E202G
| 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
AA Change: E202G
PolyPhen 2
Score 0.041 (Sensitivity: 0.94; Specificity: 0.83)
|
| Coding Region Coverage |
|
| 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: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9030612E09Rik |
T |
A |
10: 43,050,887 (GRCm39) |
H60Q |
probably benign |
Het |
| Agrn |
C |
T |
4: 156,259,018 (GRCm39) |
|
probably benign |
Het |
| Angpt1 |
C |
T |
15: 42,539,790 (GRCm39) |
R23H |
possibly damaging |
Het |
| Cadps |
T |
A |
14: 12,491,824 (GRCm38) |
E775D |
probably damaging |
Het |
| Cdc42bpa |
T |
A |
1: 179,889,387 (GRCm39) |
M211K |
probably benign |
Het |
| Cfap410 |
A |
T |
10: 77,816,384 (GRCm39) |
|
probably benign |
Het |
| Clec16a |
A |
G |
16: 10,445,245 (GRCm39) |
M77V |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cyp27b1 |
G |
T |
10: 126,886,912 (GRCm39) |
|
probably null |
Het |
| Eef1d |
A |
G |
15: 75,767,654 (GRCm39) |
I240T |
probably damaging |
Het |
| Fras1 |
T |
A |
5: 96,876,475 (GRCm39) |
F2403I |
possibly damaging |
Het |
| Ighv1-47 |
C |
T |
12: 114,955,018 (GRCm39) |
V21I |
possibly damaging |
Het |
| Kank1 |
T |
C |
19: 25,405,459 (GRCm39) |
L1159P |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 138,015,372 (GRCm39) |
D315G |
possibly damaging |
Het |
| Mcam |
T |
C |
9: 44,048,331 (GRCm39) |
|
probably benign |
Het |
| Mpdz |
A |
T |
4: 81,208,510 (GRCm39) |
D1778E |
probably damaging |
Het |
| Numbl |
C |
T |
7: 26,964,327 (GRCm39) |
R46W |
probably damaging |
Het |
| Or1af1 |
A |
T |
2: 37,110,257 (GRCm39) |
Y252F |
probably damaging |
Het |
| Or6d13 |
C |
T |
6: 116,518,104 (GRCm39) |
T230I |
possibly damaging |
Het |
| Pde3b |
T |
C |
7: 114,122,580 (GRCm39) |
V716A |
possibly damaging |
Het |
| Plcg1 |
T |
A |
2: 160,597,672 (GRCm39) |
Y771* |
probably null |
Het |
| Pramel5 |
A |
G |
4: 143,999,682 (GRCm39) |
V135A |
probably benign |
Het |
| Slu7 |
A |
G |
11: 43,336,302 (GRCm39) |
|
probably null |
Het |
| Taf2 |
C |
T |
15: 54,897,572 (GRCm39) |
V919I |
probably benign |
Het |
| Tcf12 |
G |
A |
9: 72,016,999 (GRCm39) |
T36M |
probably damaging |
Het |
| Tlr11 |
A |
T |
14: 50,598,149 (GRCm39) |
D45V |
probably damaging |
Het |
| Tmem132b |
A |
G |
5: 125,855,791 (GRCm39) |
T508A |
probably damaging |
Het |
| Trf |
C |
T |
9: 103,089,181 (GRCm39) |
E569K |
probably benign |
Het |
| Trim24 |
T |
C |
6: 37,937,719 (GRCm39) |
C875R |
probably damaging |
Het |
| Usf3 |
A |
G |
16: 44,042,144 (GRCm39) |
N2208S |
probably damaging |
Het |
| Usp14 |
A |
G |
18: 9,997,196 (GRCm39) |
V436A |
probably damaging |
Het |
| Vwa5b1 |
G |
A |
4: 138,296,437 (GRCm39) |
R1197* |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation