Incidental Mutation 'R2404:Kif12'
| ID |
248853 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif12
|
| Ensembl Gene |
ENSMUSG00000028357 |
| Gene Name |
kinesin family member 12 |
| Synonyms |
N-9 kinesin |
| MMRRC Submission |
040370-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.252)
|
| Stock # |
R2404 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to C
at 63088790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Arginine
at position 170
(L170R)
|
| 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: L170R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000030042
Gene: ENSMUSG00000028357
AA Change: L170R
| 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: L170R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| Meta Mutation Damage Score |
0.9607 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.7%
- 20x: 93.2%
|
| Validation Efficiency |
98% (52/53) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933402N03Rik |
T |
C |
7: 130,740,923 (GRCm39) |
T98A |
possibly damaging |
Het |
| Aifm2 |
A |
G |
10: 61,563,974 (GRCm39) |
I161V |
probably benign |
Het |
| Arhgef26 |
T |
C |
3: 62,336,336 (GRCm39) |
M625T |
possibly damaging |
Het |
| Atp9a |
T |
A |
2: 168,517,283 (GRCm39) |
|
probably null |
Het |
| Avpr1a |
T |
C |
10: 122,285,115 (GRCm39) |
F136L |
possibly damaging |
Het |
| Bcas3 |
T |
C |
11: 85,245,715 (GRCm39) |
|
probably benign |
Het |
| Bnc1 |
A |
T |
7: 81,618,463 (GRCm39) |
H867Q |
probably benign |
Het |
| Cdh12 |
C |
T |
15: 21,537,720 (GRCm39) |
T407I |
probably damaging |
Het |
| Chd5 |
C |
T |
4: 152,451,791 (GRCm39) |
T701M |
probably damaging |
Het |
| Dhx57 |
A |
G |
17: 80,561,733 (GRCm39) |
V927A |
probably damaging |
Het |
| Dnah2 |
A |
G |
11: 69,328,047 (GRCm39) |
F3353L |
probably damaging |
Het |
| Ect2 |
G |
A |
3: 27,185,999 (GRCm39) |
P495S |
probably benign |
Het |
| Egfl7 |
G |
A |
2: 26,479,162 (GRCm39) |
E25K |
possibly damaging |
Het |
| Gm5117 |
T |
C |
8: 32,227,306 (GRCm39) |
|
noncoding transcript |
Het |
| Hbs1l |
A |
T |
10: 21,171,946 (GRCm39) |
|
probably benign |
Het |
| Insrr |
C |
T |
3: 87,709,974 (GRCm39) |
T309I |
possibly damaging |
Het |
| Kalrn |
C |
T |
16: 33,810,180 (GRCm39) |
D2525N |
possibly damaging |
Het |
| Krt90 |
A |
G |
15: 101,463,105 (GRCm39) |
|
probably null |
Het |
| Mcu |
A |
G |
10: 59,303,526 (GRCm39) |
S104P |
probably damaging |
Het |
| Mical3 |
G |
A |
6: 120,936,789 (GRCm39) |
P374S |
probably benign |
Het |
| Ncam2 |
A |
T |
16: 81,287,128 (GRCm39) |
|
probably benign |
Het |
| Or12e9 |
A |
G |
2: 87,202,568 (GRCm39) |
I231V |
probably benign |
Het |
| Or2t47 |
A |
T |
11: 58,442,546 (GRCm39) |
I173N |
probably damaging |
Het |
| Or2w1b |
T |
C |
13: 21,300,012 (GRCm39) |
L50P |
probably damaging |
Het |
| Or5k17 |
G |
A |
16: 58,745,998 (GRCm39) |
S312L |
probably benign |
Het |
| Otud7a |
A |
G |
7: 63,346,899 (GRCm39) |
S158G |
probably benign |
Het |
| Phlpp1 |
C |
T |
1: 106,100,569 (GRCm39) |
T279M |
probably benign |
Het |
| Pkhd1l1 |
T |
G |
15: 44,414,216 (GRCm39) |
W2828G |
probably damaging |
Het |
| Pnma8a |
A |
T |
7: 16,694,316 (GRCm39) |
N57I |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,547,749 (GRCm39) |
|
probably null |
Het |
| Ptprq |
T |
C |
10: 107,522,460 (GRCm39) |
Y531C |
probably damaging |
Het |
| Rai1 |
A |
G |
11: 60,080,750 (GRCm39) |
T1605A |
probably benign |
Het |
| Satb2 |
T |
C |
1: 56,987,267 (GRCm39) |
Y106C |
probably damaging |
Het |
| Sgms1 |
G |
A |
19: 32,137,072 (GRCm39) |
R165* |
probably null |
Het |
| Slc19a3 |
T |
A |
1: 83,000,756 (GRCm39) |
H87L |
probably benign |
Het |
| Slc4a7 |
G |
T |
14: 14,733,733 (GRCm38) |
V54L |
probably damaging |
Het |
| Sp110 |
A |
C |
1: 85,505,050 (GRCm39) |
F434C |
probably benign |
Het |
| Spen |
T |
C |
4: 141,205,216 (GRCm39) |
N1137S |
unknown |
Het |
| Spice1 |
T |
C |
16: 44,186,989 (GRCm39) |
I162T |
probably benign |
Het |
| Spmip1 |
G |
A |
6: 29,473,390 (GRCm39) |
R173Q |
probably benign |
Het |
| Sqor |
A |
T |
2: 122,649,943 (GRCm39) |
T396S |
probably benign |
Het |
| Tshz3 |
A |
T |
7: 36,469,805 (GRCm39) |
Q598L |
probably damaging |
Het |
| Ttc13 |
C |
T |
8: 125,405,736 (GRCm39) |
|
probably benign |
Het |
| Ubxn2a |
T |
C |
12: 4,933,851 (GRCm39) |
T187A |
probably benign |
Het |
| Usp28 |
T |
C |
9: 48,948,558 (GRCm39) |
|
probably null |
Het |
| Zc3h12a |
T |
C |
4: 125,013,316 (GRCm39) |
Y516C |
probably damaging |
Het |
| Zfp616 |
A |
C |
11: 73,975,682 (GRCm39) |
K650N |
probably 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 |
|
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 |
|
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'- AGTTGAGGAATCCTTGCCTC -3'
(R):5'- GCATCATGCAGAGGACCTTCAC -3'
Sequencing Primer
(F):5'- GTTGAGGAATCCTTGCCTCCAAAG -3'
(R):5'- AGAGGACCTTCACCTGGCTATTAG -3'
|
| Posted On |
2014-11-11 |
Incidental Mutation