Incidental Mutation 'R2178:Kif12'
| ID |
236985 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif12
|
| Ensembl Gene |
ENSMUSG00000028357 |
| Gene Name |
kinesin family member 12 |
| Synonyms |
N-9 kinesin |
| MMRRC Submission |
040180-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R2178 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 63085196 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 515
(P515L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000152690
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030042]
[ENSMUST00000124739]
[ENSMUST00000156618]
|
| AlphaFold |
Q9D2Z8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030042
AA Change: P515L
PolyPhen 2
Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
|
| SMART Domains |
Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: P515L
| 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: P515L
PolyPhen 2
Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.7%
- 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy6 |
A |
T |
15: 98,492,236 (GRCm39) |
N1007K |
probably damaging |
Het |
| Apon |
C |
A |
10: 128,090,634 (GRCm39) |
A104E |
probably benign |
Het |
| Cdh15 |
T |
A |
8: 123,591,715 (GRCm39) |
|
probably null |
Het |
| Cep135 |
T |
C |
5: 76,779,297 (GRCm39) |
V769A |
probably benign |
Het |
| Cep152 |
A |
T |
2: 125,421,954 (GRCm39) |
|
probably null |
Het |
| Clca3a1 |
T |
C |
3: 144,711,863 (GRCm39) |
N711D |
probably damaging |
Het |
| Col1a2 |
T |
C |
6: 4,531,143 (GRCm39) |
F731L |
unknown |
Het |
| Cpt1b |
T |
C |
15: 89,303,246 (GRCm39) |
E603G |
probably damaging |
Het |
| Cspp1 |
T |
G |
1: 10,174,471 (GRCm39) |
D641E |
possibly damaging |
Het |
| Ddr2 |
C |
T |
1: 169,822,251 (GRCm39) |
R399Q |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,126,816 (GRCm39) |
|
probably null |
Het |
| Greb1 |
A |
G |
12: 16,746,388 (GRCm39) |
V1294A |
probably damaging |
Het |
| Hmgb4 |
A |
G |
4: 128,154,275 (GRCm39) |
S98P |
probably damaging |
Het |
| Kmt5b |
A |
C |
19: 3,865,372 (GRCm39) |
E789A |
possibly damaging |
Het |
| Lama1 |
G |
T |
17: 68,076,510 (GRCm39) |
V1095F |
probably benign |
Het |
| Leprot |
T |
C |
4: 101,513,308 (GRCm39) |
V32A |
probably benign |
Het |
| Mcoln1 |
A |
G |
8: 3,558,766 (GRCm39) |
T255A |
probably damaging |
Het |
| Mertk |
G |
A |
2: 128,634,984 (GRCm39) |
E765K |
probably damaging |
Het |
| Muc5b |
A |
G |
7: 141,417,853 (GRCm39) |
T3600A |
possibly damaging |
Het |
| Ncapd3 |
A |
T |
9: 26,999,845 (GRCm39) |
E1395V |
probably benign |
Het |
| Ntrk2 |
T |
C |
13: 58,956,616 (GRCm39) |
F25S |
probably benign |
Het |
| Or2a5 |
A |
G |
6: 42,873,732 (GRCm39) |
M116V |
probably benign |
Het |
| Or6z1 |
G |
T |
7: 6,504,487 (GRCm39) |
A246D |
probably damaging |
Het |
| Or7c70 |
T |
A |
10: 78,683,612 (GRCm39) |
I46F |
probably damaging |
Het |
| Pappa |
C |
A |
4: 65,269,924 (GRCm39) |
H1613N |
probably benign |
Het |
| Polq |
T |
C |
16: 36,883,191 (GRCm39) |
V1785A |
probably damaging |
Het |
| Pramel23 |
A |
T |
4: 143,424,612 (GRCm39) |
I277K |
possibly damaging |
Het |
| Prkar2a |
T |
C |
9: 108,617,737 (GRCm39) |
|
probably null |
Het |
| Qrich2 |
T |
C |
11: 116,334,603 (GRCm39) |
D2194G |
probably damaging |
Het |
| Rnf183 |
T |
C |
4: 62,346,333 (GRCm39) |
N155S |
probably benign |
Het |
| S1pr5 |
T |
C |
9: 21,155,760 (GRCm39) |
N222S |
probably benign |
Het |
| Scnn1a |
C |
T |
6: 125,307,965 (GRCm39) |
R170C |
probably damaging |
Het |
| Slc25a2 |
T |
C |
18: 37,771,311 (GRCm39) |
T73A |
probably benign |
Het |
| Tgfb1 |
A |
G |
7: 25,404,234 (GRCm39) |
N347S |
probably damaging |
Het |
| Ticrr |
T |
C |
7: 79,315,433 (GRCm39) |
V229A |
probably benign |
Het |
| Tjp3 |
T |
C |
10: 81,115,941 (GRCm39) |
E313G |
probably benign |
Het |
| Tnfsf11 |
A |
G |
14: 78,521,682 (GRCm39) |
S176P |
probably benign |
Het |
| Vmn2r68 |
TCC |
TC |
7: 84,870,758 (GRCm39) |
|
probably null |
Het |
| Vps39 |
C |
A |
2: 120,154,160 (GRCm39) |
E612* |
probably null |
Het |
| Vwf |
T |
A |
6: 125,619,095 (GRCm39) |
Y1258N |
possibly 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 |
|
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'- GAATGGACATGTGTGAACGC -3'
(R):5'- GACTGAAGACTTAGACCCTGCTC -3'
Sequencing Primer
(F):5'- TGTGTGAACGCAGACATTCC -3'
(R):5'- TCCCTGCAGGATGGTTCCAG -3'
|
| Posted On |
2014-10-02 |
Incidental Mutation