Incidental Mutation 'R2372:Kif12'
ID |
248154 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif12
|
Ensembl Gene |
ENSMUSG00000028357 |
Gene Name |
kinesin family member 12 |
Synonyms |
N-9 kinesin |
MMRRC Submission |
040352-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.252)
|
Stock # |
R2372 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
4 |
Chromosomal Location |
63083867-63090368 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 63086796 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Serine
at position 347
(T347S)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030042
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030042]
[ENSMUST00000124739]
[ENSMUST00000156618]
|
AlphaFold |
Q9D2Z8 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030042
AA Change: T347S
PolyPhen 2
Score 0.637 (Sensitivity: 0.87; Specificity: 0.91)
|
SMART Domains |
Protein: ENSMUSP00000030042 Gene: ENSMUSG00000028357 AA Change: T347S
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 |
possibly damaging
Transcript: ENSMUST00000156618
AA Change: T347S
PolyPhen 2
Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)
|
Meta Mutation Damage Score |
0.2683 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.2%
|
Validation Efficiency |
97% (36/37) |
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: 34 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700008O03Rik |
A |
G |
7: 44,009,704 (GRCm39) |
L135S |
probably damaging |
Het |
A2ml1 |
C |
T |
6: 128,557,349 (GRCm39) |
A115T |
probably benign |
Het |
Alpi |
G |
T |
1: 87,028,316 (GRCm39) |
T169N |
probably damaging |
Het |
Ccdc15 |
T |
C |
9: 37,226,801 (GRCm39) |
D378G |
possibly damaging |
Het |
Cpb2 |
T |
G |
14: 75,505,490 (GRCm39) |
V162G |
probably damaging |
Het |
Dnmbp |
T |
C |
19: 43,890,759 (GRCm39) |
E336G |
probably benign |
Het |
Dok6 |
G |
C |
18: 89,432,988 (GRCm39) |
R274G |
probably null |
Het |
Eef1d |
G |
A |
15: 75,768,166 (GRCm39) |
R199C |
probably damaging |
Het |
Epha8 |
T |
C |
4: 136,660,321 (GRCm39) |
Y714C |
probably damaging |
Het |
Fyb1 |
T |
C |
15: 6,681,388 (GRCm39) |
|
probably benign |
Het |
Gfpt2 |
A |
G |
11: 49,698,542 (GRCm39) |
N46D |
probably benign |
Het |
Gm10608 |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
CAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGAGA |
9: 118,989,784 (GRCm39) |
|
probably benign |
Het |
Gm11596 |
C |
A |
11: 99,684,082 (GRCm39) |
E13* |
probably null |
Het |
Gsx2 |
T |
C |
5: 75,237,713 (GRCm39) |
F222L |
probably damaging |
Het |
Hpca |
T |
A |
4: 129,012,237 (GRCm39) |
K100* |
probably null |
Het |
Iqsec1 |
A |
G |
6: 90,671,636 (GRCm39) |
S89P |
probably damaging |
Het |
Knop1 |
A |
G |
7: 118,452,440 (GRCm39) |
L93S |
probably damaging |
Het |
Mib1 |
A |
G |
18: 10,812,045 (GRCm39) |
T981A |
probably damaging |
Het |
N4bp2l1 |
C |
T |
5: 150,496,246 (GRCm39) |
E123K |
probably damaging |
Het |
Npr2 |
C |
T |
4: 43,650,432 (GRCm39) |
R976W |
probably damaging |
Het |
Rbpj |
T |
C |
5: 53,799,537 (GRCm39) |
|
probably benign |
Het |
Ro60 |
C |
A |
1: 143,646,620 (GRCm39) |
E42* |
probably null |
Het |
Ruvbl1 |
T |
C |
6: 88,462,779 (GRCm39) |
V301A |
possibly damaging |
Het |
Sgip1 |
T |
C |
4: 102,766,988 (GRCm39) |
|
probably null |
Het |
Sh3bp2 |
T |
C |
5: 34,716,840 (GRCm39) |
I361T |
probably benign |
Het |
Skint1 |
T |
A |
4: 111,876,348 (GRCm39) |
Y90N |
probably damaging |
Het |
Slc25a45 |
G |
A |
19: 5,934,580 (GRCm39) |
V183I |
probably benign |
Het |
Slco4c1 |
T |
A |
1: 96,748,925 (GRCm39) |
H664L |
probably benign |
Het |
Sult2a4 |
T |
A |
7: 13,649,225 (GRCm39) |
I194L |
probably benign |
Het |
Tecta |
C |
A |
9: 42,299,570 (GRCm39) |
D173Y |
probably damaging |
Het |
Tnrc18 |
T |
A |
5: 142,745,459 (GRCm39) |
|
probably benign |
Het |
Use1 |
T |
C |
8: 71,821,823 (GRCm39) |
L169P |
possibly damaging |
Het |
Zfp335 |
A |
G |
2: 164,736,959 (GRCm39) |
L918P |
probably damaging |
Het |
Zfp451 |
A |
T |
1: 33,819,133 (GRCm39) |
|
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 |
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 |
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'- GCCCAGACTCTGTGACATAGAC -3'
(R):5'- ACAGCAAGCTCACCAAGTTG -3'
Sequencing Primer
(F):5'- GTGACATAGACCCTTGGCTATGAC -3'
(R):5'- CAAGTTGCTGGCAGACTCACTTG -3'
|
Posted On |
2014-11-11 |