Incidental Mutation 'IGL01306:Kif12'
| ID |
73464 |
| 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: 0.321)
|
| Stock # |
IGL01306
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 63084121 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Glutamine
at position 627
(P627Q)
|
| 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: P626Q
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: P626Q
| 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: P627Q
PolyPhen 2
Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
|
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd12b |
G |
A |
12: 70,215,822 (GRCm39) |
G88S |
probably damaging |
Het |
| Acot10 |
A |
G |
15: 20,666,051 (GRCm39) |
F230S |
probably benign |
Het |
| Ago4 |
T |
C |
4: 126,409,677 (GRCm39) |
|
probably null |
Het |
| Akap12 |
G |
T |
10: 4,303,273 (GRCm39) |
A28S |
probably benign |
Het |
| Anks1 |
C |
A |
17: 28,205,227 (GRCm39) |
T262K |
probably damaging |
Het |
| Arfgap3 |
A |
G |
15: 83,197,710 (GRCm39) |
Y349H |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,059,162 (GRCm39) |
|
probably benign |
Het |
| Camsap2 |
T |
A |
1: 136,225,528 (GRCm39) |
E199D |
probably benign |
Het |
| Ccdc13 |
A |
T |
9: 121,656,429 (GRCm39) |
M128K |
probably benign |
Het |
| Ccdc38 |
T |
C |
10: 93,405,797 (GRCm39) |
|
probably null |
Het |
| Cep95 |
G |
A |
11: 106,704,641 (GRCm39) |
V499I |
probably benign |
Het |
| Cpne6 |
A |
T |
14: 55,752,706 (GRCm39) |
I299F |
probably damaging |
Het |
| Cse1l |
T |
A |
2: 166,769,428 (GRCm39) |
Y278* |
probably null |
Het |
| Dip2c |
A |
G |
13: 9,625,179 (GRCm39) |
N558D |
possibly damaging |
Het |
| Edar |
A |
T |
10: 58,464,460 (GRCm39) |
C60S |
probably damaging |
Het |
| Fat2 |
T |
C |
11: 55,201,698 (GRCm39) |
N459D |
probably benign |
Het |
| Fbxw8 |
C |
T |
5: 118,251,785 (GRCm39) |
V243M |
possibly damaging |
Het |
| Fem1b |
G |
A |
9: 62,704,810 (GRCm39) |
A150V |
possibly damaging |
Het |
| Gal3st1 |
A |
G |
11: 3,948,405 (GRCm39) |
Y204C |
probably damaging |
Het |
| Gm5422 |
A |
T |
10: 31,125,432 (GRCm39) |
|
noncoding transcript |
Het |
| Grin2c |
T |
C |
11: 115,147,020 (GRCm39) |
T392A |
probably benign |
Het |
| Itpk1 |
T |
C |
12: 102,572,362 (GRCm39) |
E117G |
probably damaging |
Het |
| Krtap15-1 |
T |
A |
16: 88,626,255 (GRCm39) |
F88L |
probably benign |
Het |
| Mlh1 |
T |
C |
9: 111,081,980 (GRCm39) |
N248D |
possibly damaging |
Het |
| Or2i1 |
T |
C |
17: 37,507,833 (GRCm39) |
N342S |
probably benign |
Het |
| Or4k15 |
A |
G |
14: 50,364,039 (GRCm39) |
N2D |
probably benign |
Het |
| Or52z12 |
T |
C |
7: 103,233,900 (GRCm39) |
Y224H |
probably damaging |
Het |
| Per2 |
T |
C |
1: 91,376,555 (GRCm39) |
H106R |
probably damaging |
Het |
| Pfkl |
T |
A |
10: 77,827,229 (GRCm39) |
T486S |
probably benign |
Het |
| Prkdc |
T |
C |
16: 15,485,595 (GRCm39) |
V474A |
possibly damaging |
Het |
| Scamp4 |
C |
A |
10: 80,445,256 (GRCm39) |
Q34K |
probably damaging |
Het |
| Serpinb3b |
A |
G |
1: 107,082,395 (GRCm39) |
Y290H |
probably damaging |
Het |
| Sft2d2 |
G |
T |
1: 165,011,564 (GRCm39) |
A110E |
probably benign |
Het |
| Siglecf |
T |
A |
7: 43,001,377 (GRCm39) |
L115* |
probably null |
Het |
| Slc6a11 |
C |
T |
6: 114,111,626 (GRCm39) |
T103M |
probably damaging |
Het |
| Slco1a1 |
T |
A |
6: 141,892,313 (GRCm39) |
K18* |
probably null |
Het |
| Spata1 |
A |
T |
3: 146,193,154 (GRCm39) |
Y112* |
probably null |
Het |
| Tbc1d32 |
G |
A |
10: 56,056,620 (GRCm39) |
T440I |
probably benign |
Het |
| Vmn2r111 |
T |
A |
17: 22,787,965 (GRCm39) |
E462V |
probably damaging |
Het |
| Wnt16 |
C |
T |
6: 22,297,934 (GRCm39) |
R267C |
probably damaging |
Het |
| Xylt1 |
A |
C |
7: 117,148,125 (GRCm39) |
S230R |
probably benign |
Het |
|
| Other mutations in Kif12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-10-07 |
Incidental Mutation