Incidental Mutation 'IGL01020:Kif2c'
| ID |
53549 |
| 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 # |
IGL01020
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 117024101 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Isoleucine
at position 397
(F397I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065896]
[ENSMUST00000106436]
|
| AlphaFold |
Q922S8 |
| PDB Structure |
The Crystal Structure of the Minimal Functional Domain of the Microtubule Destabilizer KIF2C Complexed with Mg-ADP [X-RAY DIFFRACTION]
The Crystal Structure of the Minimal Functional Domain of the Microtubule Destabilizer KIF2C Complexed with Mg-AMPPNP [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065896
AA Change: F397I
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: F397I
| 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 damaging
Transcript: ENSMUST00000106436
AA Change: F346I
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: F346I
| 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: ENSMUST00000132868
|
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Akt3 |
T |
G |
1: 176,958,533 (GRCm39) |
|
probably benign |
Het |
| Aldh18a1 |
C |
T |
19: 40,557,625 (GRCm39) |
|
probably benign |
Het |
| Arhgap32 |
A |
G |
9: 32,168,657 (GRCm39) |
H880R |
probably benign |
Het |
| Arhgef7 |
G |
A |
8: 11,832,540 (GRCm39) |
S5N |
probably damaging |
Het |
| Atp6v1e1 |
T |
C |
6: 120,785,372 (GRCm39) |
M40V |
possibly damaging |
Het |
| Atr |
T |
C |
9: 95,744,836 (GRCm39) |
V51A |
probably damaging |
Het |
| Atxn10 |
A |
G |
15: 85,259,623 (GRCm39) |
|
probably null |
Het |
| Btbd16 |
T |
A |
7: 130,426,091 (GRCm39) |
I502N |
probably damaging |
Het |
| Celsr2 |
G |
T |
3: 108,310,586 (GRCm39) |
L1499M |
probably damaging |
Het |
| Cfl1 |
C |
T |
19: 5,543,709 (GRCm39) |
|
probably benign |
Het |
| Cul9 |
T |
C |
17: 46,849,949 (GRCm39) |
E500G |
probably damaging |
Het |
| Dusp3 |
G |
T |
11: 101,875,470 (GRCm39) |
N31K |
probably benign |
Het |
| Erbb4 |
A |
T |
1: 68,337,608 (GRCm39) |
|
probably benign |
Het |
| Fam234b |
G |
A |
6: 135,188,904 (GRCm39) |
V170M |
probably benign |
Het |
| Fign |
A |
G |
2: 63,809,354 (GRCm39) |
S639P |
probably damaging |
Het |
| Gbp7 |
A |
G |
3: 142,248,618 (GRCm39) |
T294A |
probably benign |
Het |
| Golm2 |
G |
A |
2: 121,756,203 (GRCm39) |
V411I |
probably benign |
Het |
| Ift80 |
C |
T |
3: 68,871,012 (GRCm39) |
D195N |
probably damaging |
Het |
| Kif21b |
G |
T |
1: 136,081,832 (GRCm39) |
|
probably benign |
Het |
| Lamc3 |
T |
C |
2: 31,804,668 (GRCm39) |
V567A |
probably benign |
Het |
| Letmd1 |
T |
C |
15: 100,369,640 (GRCm39) |
M36T |
probably damaging |
Het |
| Lrp1b |
A |
G |
2: 40,888,259 (GRCm39) |
W2220R |
probably damaging |
Het |
| Mical2 |
T |
A |
7: 111,914,283 (GRCm39) |
|
probably benign |
Het |
| Mtif2 |
A |
G |
11: 29,494,973 (GRCm39) |
D691G |
possibly damaging |
Het |
| Myh8 |
G |
A |
11: 67,174,229 (GRCm39) |
V189M |
probably damaging |
Het |
| Myo9b |
G |
A |
8: 71,804,644 (GRCm39) |
R1418K |
probably benign |
Het |
| Nkpd1 |
G |
A |
7: 19,252,674 (GRCm39) |
V7M |
possibly damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,543,473 (GRCm39) |
V1116I |
probably benign |
Het |
| Nynrin |
A |
G |
14: 56,105,905 (GRCm39) |
M875V |
probably benign |
Het |
| Oat |
T |
C |
7: 132,168,902 (GRCm39) |
|
probably null |
Het |
| Or7g35 |
G |
A |
9: 19,496,616 (GRCm39) |
S261N |
possibly damaging |
Het |
| Or8g24 |
A |
C |
9: 38,989,747 (GRCm39) |
I98R |
probably damaging |
Het |
| Prkaa2 |
C |
T |
4: 104,932,659 (GRCm39) |
R63Q |
probably damaging |
Het |
| Psg29 |
T |
A |
7: 16,942,657 (GRCm39) |
S219R |
probably benign |
Het |
| Ptprc |
T |
C |
1: 138,047,911 (GRCm39) |
|
probably null |
Het |
| Pwwp2b |
G |
T |
7: 138,834,771 (GRCm39) |
E71* |
probably null |
Het |
| Robo2 |
T |
C |
16: 73,725,039 (GRCm39) |
T1055A |
probably benign |
Het |
| Serpina9 |
T |
A |
12: 103,974,845 (GRCm39) |
N103Y |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,874,171 (GRCm39) |
E10G |
probably damaging |
Het |
| Tbck |
C |
T |
3: 132,432,903 (GRCm39) |
Q438* |
probably null |
Het |
| Thnsl1 |
T |
C |
2: 21,217,305 (GRCm39) |
L353S |
probably damaging |
Het |
| Tmem237 |
C |
A |
1: 59,146,612 (GRCm39) |
|
probably null |
Het |
| Tuba3a |
C |
T |
6: 125,258,303 (GRCm39) |
R229H |
probably damaging |
Het |
| Zbtb2 |
A |
G |
10: 4,319,702 (GRCm39) |
I108T |
probably benign |
Het |
| Zfp345 |
T |
C |
2: 150,314,967 (GRCm39) |
N190S |
possibly 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 |
|
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 |
|
IGL02455:Kif2c
|
APN |
4 |
117,029,551 (GRCm39) |
missense |
probably benign |
|
|
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 |
2013-06-28 |
Incidental Mutation