Incidental Mutation 'IGL02455:Kif2c'
| ID |
293784 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Kif2c
|
| Ensembl Gene |
ENSMUSG00000028678 |
| Gene Name |
kinesin family member 2C |
| Synonyms |
4930402F02Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02455
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 117029551 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Isoleucine
at position 143
(M143I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065896]
[ENSMUST00000106436]
[ENSMUST00000153953]
|
| AlphaFold |
Q922S8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000065896
AA Change: M194I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: M194I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
192 |
205 |
N/A |
INTRINSIC |
|
KISc
|
252 |
590 |
1.04e-131 |
SMART |
|
coiled coil region
|
615 |
647 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000106436
AA Change: M143I
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: M143I
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
141 |
154 |
N/A |
INTRINSIC |
|
KISc
|
201 |
539 |
1.04e-131 |
SMART |
|
coiled coil region
|
564 |
596 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141675
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142138
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142205
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148918
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000153953
|
| 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 kinesin-like protein that functions as a microtubule-dependent molecular motor. The encoded protein can depolymerize microtubules at the plus end, thereby promoting mitotic chromosome segregation. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2014]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcf1 |
A |
G |
17: 36,271,021 (GRCm39) |
V479A |
probably damaging |
Het |
| Adam18 |
T |
C |
8: 25,141,864 (GRCm39) |
D235G |
probably damaging |
Het |
| Cdh22 |
T |
C |
2: 164,984,175 (GRCm39) |
N359S |
possibly damaging |
Het |
| Cebpz |
G |
T |
17: 79,242,465 (GRCm39) |
N396K |
probably benign |
Het |
| Celsr3 |
T |
A |
9: 108,720,092 (GRCm39) |
W2493R |
probably benign |
Het |
| Clca3a2 |
C |
T |
3: 144,787,172 (GRCm39) |
V500M |
probably benign |
Het |
| Clec4a4 |
A |
C |
6: 122,990,739 (GRCm39) |
N160H |
possibly damaging |
Het |
| Crb2 |
T |
C |
2: 37,684,576 (GRCm39) |
S1139P |
possibly damaging |
Het |
| Dnah8 |
T |
C |
17: 30,891,308 (GRCm39) |
I771T |
probably damaging |
Het |
| Etfbkmt |
C |
T |
6: 149,048,724 (GRCm39) |
A121V |
probably damaging |
Het |
| Fat4 |
T |
A |
3: 39,005,280 (GRCm39) |
L1893Q |
possibly damaging |
Het |
| Fbxw13 |
A |
T |
9: 109,012,255 (GRCm39) |
S188T |
probably benign |
Het |
| Fign |
T |
C |
2: 63,810,841 (GRCm39) |
D143G |
probably benign |
Het |
| Foxj3 |
C |
A |
4: 119,477,434 (GRCm39) |
H381N |
unknown |
Het |
| Gpr158 |
A |
T |
2: 21,373,511 (GRCm39) |
T149S |
probably benign |
Het |
| Ift74 |
C |
T |
4: 94,524,068 (GRCm39) |
Q195* |
probably null |
Het |
| Kmt2b |
A |
G |
7: 30,278,303 (GRCm39) |
|
probably null |
Het |
| Krt84 |
C |
T |
15: 101,434,170 (GRCm39) |
R599H |
unknown |
Het |
| Ly6g6f |
C |
T |
17: 35,301,866 (GRCm39) |
R196H |
possibly damaging |
Het |
| Map4 |
C |
A |
9: 109,828,901 (GRCm39) |
N95K |
probably benign |
Het |
| Mrgprx3-ps |
T |
A |
7: 46,959,263 (GRCm39) |
|
noncoding transcript |
Het |
| Mroh9 |
T |
C |
1: 162,903,149 (GRCm39) |
M85V |
probably benign |
Het |
| Npffr2 |
T |
C |
5: 89,715,994 (GRCm39) |
I107T |
probably damaging |
Het |
| Nrcam |
T |
C |
12: 44,617,313 (GRCm39) |
V737A |
probably damaging |
Het |
| Oprm1 |
A |
G |
10: 6,780,219 (GRCm39) |
T294A |
probably damaging |
Het |
| Or10d5j |
T |
C |
9: 39,868,198 (GRCm39) |
E11G |
probably damaging |
Het |
| Or5w17 |
A |
T |
2: 87,583,927 (GRCm39) |
S137T |
possibly damaging |
Het |
| Or7g32 |
C |
T |
9: 19,408,559 (GRCm39) |
Q172* |
probably null |
Het |
| Parvg |
A |
G |
15: 84,214,283 (GRCm39) |
R156G |
possibly damaging |
Het |
| Pclo |
T |
C |
5: 14,590,189 (GRCm39) |
S830P |
unknown |
Het |
| Pde11a |
T |
C |
2: 75,988,737 (GRCm39) |
D468G |
possibly damaging |
Het |
| Peak1 |
A |
T |
9: 56,134,757 (GRCm39) |
S195T |
possibly damaging |
Het |
| Pkhd1 |
A |
G |
1: 20,434,425 (GRCm39) |
Y2338H |
probably damaging |
Het |
| Ppp1r1b |
A |
T |
11: 98,241,395 (GRCm39) |
I28F |
probably damaging |
Het |
| Prpf8 |
A |
G |
11: 75,400,084 (GRCm39) |
Y2326C |
probably benign |
Het |
| Psmd1 |
T |
A |
1: 86,006,302 (GRCm39) |
L223I |
probably damaging |
Het |
| Runx3 |
T |
A |
4: 134,902,841 (GRCm39) |
Y310N |
probably damaging |
Het |
| Secisbp2l |
C |
T |
2: 125,615,398 (GRCm39) |
D76N |
possibly damaging |
Het |
| Slfn4 |
A |
T |
11: 83,077,584 (GRCm39) |
N124I |
probably damaging |
Het |
| Spata13 |
G |
A |
14: 60,944,163 (GRCm39) |
V519I |
probably benign |
Het |
| Ssh3 |
C |
T |
19: 4,314,460 (GRCm39) |
E365K |
probably damaging |
Het |
| Strc |
A |
G |
2: 121,206,272 (GRCm39) |
|
probably benign |
Het |
| Tdp2 |
T |
A |
13: 25,025,245 (GRCm39) |
I338N |
probably damaging |
Het |
| Vmn1r13 |
A |
T |
6: 57,187,457 (GRCm39) |
R205S |
probably damaging |
Het |
| Wdr19 |
G |
T |
5: 65,382,102 (GRCm39) |
A441S |
probably benign |
Het |
| Ylpm1 |
A |
G |
12: 85,077,037 (GRCm39) |
D796G |
probably damaging |
Het |
| Zbtb11 |
T |
C |
16: 55,821,038 (GRCm39) |
S712P |
probably damaging |
Het |
| Zcchc14 |
A |
G |
8: 122,333,009 (GRCm39) |
|
probably benign |
Het |
| Zfp608 |
T |
G |
18: 55,032,405 (GRCm39) |
S512R |
probably damaging |
Het |
|
| Other mutations in Kif2c |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00672:Kif2c
|
APN |
4 |
117,035,443 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL01020:Kif2c
|
APN |
4 |
117,024,101 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01131:Kif2c
|
APN |
4 |
117,029,562 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02131:Kif2c
|
APN |
4 |
117,035,150 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
IGL02556:Kif2c
|
APN |
4 |
117,019,802 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03084:Kif2c
|
APN |
4 |
117,035,355 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03333:Kif2c
|
APN |
4 |
117,037,833 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
IGL03353:Kif2c
|
APN |
4 |
117,023,533 (GRCm39) |
missense |
probably benign |
0.19 |
|
R0025:Kif2c
|
UTSW |
4 |
117,022,714 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0466:Kif2c
|
UTSW |
4 |
117,029,489 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1069:Kif2c
|
UTSW |
4 |
117,035,350 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1519:Kif2c
|
UTSW |
4 |
117,027,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1594:Kif2c
|
UTSW |
4 |
117,035,385 (GRCm39) |
missense |
probably benign |
0.02 |
|
R1789:Kif2c
|
UTSW |
4 |
117,024,558 (GRCm39) |
missense |
probably benign |
0.18 |
|
R1894:Kif2c
|
UTSW |
4 |
117,019,420 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2340:Kif2c
|
UTSW |
4 |
117,027,038 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2830:Kif2c
|
UTSW |
4 |
117,039,645 (GRCm39) |
splice site |
probably null |
|
|
R3734:Kif2c
|
UTSW |
4 |
117,019,843 (GRCm39) |
missense |
probably benign |
0.02 |
|
R4634:Kif2c
|
UTSW |
4 |
117,035,437 (GRCm39) |
missense |
probably benign |
0.04 |
|
R4720:Kif2c
|
UTSW |
4 |
117,028,946 (GRCm39) |
missense |
probably benign |
|
|
R4908:Kif2c
|
UTSW |
4 |
117,023,608 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5076:Kif2c
|
UTSW |
4 |
117,032,066 (GRCm39) |
unclassified |
probably benign |
|
|
R5855:Kif2c
|
UTSW |
4 |
117,039,739 (GRCm39) |
unclassified |
probably benign |
|
|
R6766:Kif2c
|
UTSW |
4 |
117,024,280 (GRCm39) |
missense |
probably benign |
|
|
R6767:Kif2c
|
UTSW |
4 |
117,035,385 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6942:Kif2c
|
UTSW |
4 |
117,023,575 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7378:Kif2c
|
UTSW |
4 |
117,019,226 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7526:Kif2c
|
UTSW |
4 |
117,039,629 (GRCm39) |
missense |
possibly damaging |
0.46 |
|
R7797:Kif2c
|
UTSW |
4 |
117,028,940 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8087:Kif2c
|
UTSW |
4 |
117,022,615 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R9123:Kif2c
|
UTSW |
4 |
117,024,291 (GRCm39) |
missense |
probably benign |
0.09 |
|
R9319:Kif2c
|
UTSW |
4 |
117,035,445 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
U24488:Kif2c
|
UTSW |
4 |
117,039,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation