Incidental Mutation 'R7852:Kif12'
ID |
606977 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif12
|
Ensembl Gene |
ENSMUSG00000028357 |
Gene Name |
kinesin family member 12 |
Synonyms |
N-9 kinesin |
MMRRC Submission |
045905-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R7852 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to C
at 63086226 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Proline to Alanine
at position 374
(P374A)
|
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: P374A
PolyPhen 2
Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000030042 Gene: ENSMUSG00000028357 AA Change: P374A
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 |
probably benign
Transcript: ENSMUST00000154234
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000156618
AA Change: P374A
PolyPhen 2
Score 0.204 (Sensitivity: 0.92; Specificity: 0.88)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933415A04Rik |
GTGT |
GTGTTTGT |
11: 43,478,253 (GRCm39) |
|
probably null |
Het |
Aco1 |
A |
G |
4: 40,180,263 (GRCm39) |
D388G |
probably benign |
Het |
Adgrl1 |
T |
G |
8: 84,662,187 (GRCm39) |
L1016R |
probably damaging |
Het |
Agmo |
C |
T |
12: 37,292,051 (GRCm39) |
P4L |
possibly damaging |
Het |
Agrn |
A |
T |
4: 156,253,514 (GRCm39) |
H1792Q |
probably benign |
Het |
Arhgef40 |
C |
T |
14: 52,229,254 (GRCm39) |
L615F |
unknown |
Het |
Atp6v1b1 |
A |
T |
6: 83,729,452 (GRCm39) |
M121L |
possibly damaging |
Het |
Cd38 |
C |
A |
5: 44,058,790 (GRCm39) |
L135M |
probably damaging |
Het |
Cep152 |
A |
T |
2: 125,432,033 (GRCm39) |
N622K |
possibly damaging |
Het |
Cfhr1 |
A |
C |
1: 139,484,165 (GRCm39) |
V117G |
probably damaging |
Het |
Dnajb1 |
T |
A |
8: 84,336,834 (GRCm39) |
D201E |
probably benign |
Het |
Dpysl2 |
T |
C |
14: 67,100,092 (GRCm39) |
N48S |
probably benign |
Het |
Dsc2 |
A |
G |
18: 20,179,342 (GRCm39) |
I242T |
possibly damaging |
Het |
Eif1ad10 |
A |
C |
12: 88,216,588 (GRCm39) |
Y95D |
probably damaging |
Het |
Eif1ad3 |
G |
A |
12: 87,843,742 (GRCm39) |
V130M |
unknown |
Het |
Fam193a |
C |
A |
5: 34,568,161 (GRCm39) |
D153E |
probably benign |
Het |
Flnc |
G |
T |
6: 29,440,897 (GRCm39) |
D332Y |
probably damaging |
Het |
Fstl5 |
A |
G |
3: 76,615,275 (GRCm39) |
I779V |
probably benign |
Het |
Gm29394 |
T |
C |
15: 57,912,172 (GRCm39) |
I11V |
unknown |
Het |
Gm36864 |
ATCAGAAGTTTC |
ATC |
7: 43,886,361 (GRCm39) |
|
probably benign |
Het |
Gnpnat1 |
G |
A |
14: 45,622,110 (GRCm39) |
P28S |
probably damaging |
Het |
Grk5 |
T |
C |
19: 61,069,383 (GRCm39) |
|
probably null |
Het |
Gys2 |
A |
T |
6: 142,376,059 (GRCm39) |
F534L |
probably damaging |
Het |
Igdcc4 |
G |
A |
9: 65,027,540 (GRCm39) |
V201I |
probably benign |
Het |
Khdc4 |
T |
A |
3: 88,604,043 (GRCm39) |
S287T |
probably benign |
Het |
Krt16 |
A |
T |
11: 100,137,592 (GRCm39) |
I371N |
probably damaging |
Het |
Lrfn2 |
G |
A |
17: 49,376,972 (GRCm39) |
V18I |
possibly damaging |
Het |
Masp2 |
G |
A |
4: 148,687,189 (GRCm39) |
E24K |
probably benign |
Het |
Mdga2 |
T |
C |
12: 66,517,724 (GRCm39) |
N37D |
possibly damaging |
Het |
Med12l |
T |
A |
3: 59,155,332 (GRCm39) |
F1171I |
probably damaging |
Het |
Med22 |
A |
T |
2: 26,800,376 (GRCm39) |
Y18N |
probably damaging |
Het |
Mfsd4b1 |
T |
C |
10: 39,879,411 (GRCm39) |
N162S |
probably benign |
Het |
Micu2 |
A |
T |
14: 58,169,710 (GRCm39) |
N213K |
probably benign |
Het |
Mpc1 |
C |
T |
17: 8,515,740 (GRCm39) |
T86I |
probably damaging |
Het |
Mto1 |
G |
T |
9: 78,356,820 (GRCm39) |
V112L |
possibly damaging |
Het |
Napepld |
C |
T |
5: 21,888,171 (GRCm39) |
V93I |
probably benign |
Het |
Nkx2-2 |
A |
T |
2: 147,026,189 (GRCm39) |
M183K |
probably damaging |
Het |
Nlrp10 |
A |
G |
7: 108,524,281 (GRCm39) |
S400P |
probably damaging |
Het |
Nynrin |
T |
C |
14: 56,108,886 (GRCm39) |
L1331P |
probably damaging |
Het |
Ofcc1 |
T |
A |
13: 40,333,915 (GRCm39) |
D392V |
probably damaging |
Het |
Or10q12 |
A |
G |
19: 13,745,874 (GRCm39) |
H56R |
probably benign |
Het |
Or11a4 |
T |
C |
17: 37,536,163 (GRCm39) |
V49A |
probably benign |
Het |
Or2ag16 |
A |
T |
7: 106,351,845 (GRCm39) |
M250K |
probably damaging |
Het |
Or6c38 |
T |
A |
10: 128,929,385 (GRCm39) |
I153F |
probably benign |
Het |
Patl2 |
C |
T |
2: 122,009,590 (GRCm39) |
|
probably benign |
Het |
Pde8b |
T |
G |
13: 95,244,205 (GRCm39) |
D78A |
probably damaging |
Het |
Pgls |
T |
A |
8: 72,047,847 (GRCm39) |
|
probably null |
Het |
Pik3c2a |
A |
G |
7: 116,016,693 (GRCm39) |
S355P |
probably benign |
Het |
Pole |
G |
A |
5: 110,454,695 (GRCm39) |
R976Q |
probably damaging |
Het |
Ppip5k2 |
A |
G |
1: 97,668,896 (GRCm39) |
L511S |
probably damaging |
Het |
Prcp |
A |
T |
7: 92,577,900 (GRCm39) |
N390Y |
probably benign |
Het |
Rpgrip1 |
T |
A |
14: 52,383,337 (GRCm39) |
N752K |
probably benign |
Het |
Rsl1d1 |
A |
G |
16: 11,021,098 (GRCm39) |
S8P |
probably benign |
Het |
S100a1 |
C |
A |
3: 90,419,392 (GRCm39) |
A18S |
probably benign |
Het |
Slc25a13 |
A |
G |
6: 6,152,461 (GRCm39) |
F92S |
probably damaging |
Het |
Slc35f3 |
T |
C |
8: 127,121,219 (GRCm39) |
I360T |
probably damaging |
Het |
Slc35f6 |
T |
C |
5: 30,814,159 (GRCm39) |
Y202H |
possibly damaging |
Het |
Sox6 |
A |
T |
7: 115,400,839 (GRCm39) |
M1K |
probably null |
Het |
Stx8 |
G |
A |
11: 67,860,611 (GRCm39) |
D11N |
probably damaging |
Het |
Vmn2r130 |
A |
G |
17: 23,282,788 (GRCm39) |
N156S |
probably benign |
Het |
Vmn2r52 |
T |
C |
7: 9,892,895 (GRCm39) |
Y748C |
probably damaging |
Het |
Vmn2r78 |
T |
A |
7: 86,569,378 (GRCm39) |
Y90* |
probably null |
Het |
Zc3h4 |
A |
G |
7: 16,156,392 (GRCm39) |
S303G |
unknown |
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 |
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 |
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'- GCAGCATCCCATAGAGGTTTC -3'
(R):5'- CAGTAAAGACGAGGTATGACCC -3'
Sequencing Primer
(F):5'- AGGTTTCTCTGGGCCCAG -3'
(R):5'- AGGTATGACCCAGGCCAG -3'
|
Posted On |
2019-12-20 |