Incidental Mutation 'R9319:Kif2c'
| ID |
706023 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2c
|
| Ensembl Gene |
ENSMUSG00000028678 |
| Gene Name |
kinesin family member 2C |
| Synonyms |
4930402F02Rik |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9319 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 117035445 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000064261
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065896]
[ENSMUST00000106436]
[ENSMUST00000153953]
|
| 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 null
Transcript: ENSMUST00000065896
|
| SMART Domains |
Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
| 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 |
probably benign
Transcript: ENSMUST00000153953
|
| Meta Mutation Damage Score |
0.9599 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
| Validation Efficiency |
100% (48/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930590J08Rik |
A |
G |
6: 91,922,446 (GRCm39) |
D811G |
probably damaging |
Het |
| Akap13 |
A |
G |
7: 75,258,836 (GRCm39) |
T487A |
probably benign |
Het |
| Ankrd6 |
C |
T |
4: 32,806,324 (GRCm39) |
S643N |
probably benign |
Het |
| Apcdd1 |
C |
T |
18: 63,055,731 (GRCm39) |
|
probably benign |
Het |
| Camk2b |
G |
T |
11: 5,927,814 (GRCm39) |
P489Q |
probably benign |
Het |
| Cd22 |
T |
A |
7: 30,569,329 (GRCm39) |
N596Y |
probably damaging |
Het |
| Chst13 |
G |
A |
6: 90,286,506 (GRCm39) |
P152L |
probably damaging |
Het |
| Cobl |
A |
T |
11: 12,203,648 (GRCm39) |
V1018E |
probably benign |
Het |
| Cttn |
T |
C |
7: 144,017,100 (GRCm39) |
E34G |
probably damaging |
Het |
| Dhx15 |
G |
A |
5: 52,342,193 (GRCm39) |
R42* |
probably null |
Het |
| Dlgap4 |
G |
T |
2: 156,546,514 (GRCm39) |
R394L |
possibly damaging |
Het |
| Dlst |
G |
T |
12: 85,170,585 (GRCm39) |
R238L |
probably damaging |
Het |
| Dnah7c |
A |
G |
1: 46,521,168 (GRCm39) |
E232G |
possibly damaging |
Het |
| Dsg1b |
C |
T |
18: 20,531,004 (GRCm39) |
Q452* |
probably null |
Het |
| Elovl3 |
A |
G |
19: 46,122,507 (GRCm39) |
T102A |
possibly damaging |
Het |
| Epas1 |
A |
G |
17: 87,104,545 (GRCm39) |
S10G |
possibly damaging |
Het |
| Fads2b |
G |
A |
2: 85,320,757 (GRCm39) |
R349C |
probably damaging |
Het |
| Fanca |
T |
C |
8: 124,018,190 (GRCm39) |
I613V |
probably benign |
Het |
| Fat1 |
T |
A |
8: 45,406,060 (GRCm39) |
V937D |
probably damaging |
Het |
| Glipr1l1 |
G |
T |
10: 111,898,122 (GRCm39) |
A76S |
probably damaging |
Het |
| Ino80 |
T |
C |
2: 119,205,005 (GRCm39) |
D1507G |
probably benign |
Het |
| Ipo13 |
T |
C |
4: 117,769,585 (GRCm39) |
D69G |
probably benign |
Het |
| Lrrc61 |
C |
A |
6: 48,545,228 (GRCm39) |
T17K |
probably damaging |
Het |
| Ltk |
C |
A |
2: 119,590,096 (GRCm39) |
E43D |
probably benign |
Het |
| Mcm3ap |
A |
G |
10: 76,318,638 (GRCm39) |
T720A |
probably damaging |
Het |
| Mcoln2 |
T |
A |
3: 145,875,691 (GRCm39) |
V81D |
probably damaging |
Het |
| Mturn |
T |
A |
6: 54,658,780 (GRCm39) |
V9D |
probably benign |
Het |
| Nrg1 |
T |
C |
8: 32,323,204 (GRCm39) |
D249G |
probably benign |
Het |
| Ntng2 |
T |
C |
2: 29,091,121 (GRCm39) |
|
probably benign |
Het |
| Odad3 |
T |
C |
9: 21,906,203 (GRCm39) |
D245G |
probably damaging |
Het |
| Pax3 |
T |
A |
1: 78,080,079 (GRCm39) |
M436L |
probably benign |
Het |
| Pias4 |
G |
A |
10: 80,991,750 (GRCm39) |
P53S |
unknown |
Het |
| Pkhd1l1 |
C |
T |
15: 44,392,974 (GRCm39) |
R1770C |
possibly damaging |
Het |
| Plk1 |
C |
A |
7: 121,768,122 (GRCm39) |
D447E |
probably damaging |
Het |
| Rsph10b |
A |
C |
5: 143,903,337 (GRCm39) |
M611L |
probably benign |
Het |
| Scart1 |
C |
T |
7: 139,807,940 (GRCm39) |
P704S |
possibly damaging |
Het |
| Snrnp40 |
T |
C |
4: 130,256,545 (GRCm39) |
L90P |
possibly damaging |
Het |
| Snu13 |
T |
C |
15: 81,928,218 (GRCm39) |
T2A |
probably benign |
Het |
| Sptlc3 |
C |
T |
2: 139,478,730 (GRCm39) |
A563V |
possibly damaging |
Het |
| Thap1 |
CAGCATCTGCTCGGAGCA |
CAGCA |
8: 26,650,884 (GRCm39) |
|
probably null |
Het |
| Tmx3 |
A |
G |
18: 90,558,068 (GRCm39) |
I373M |
probably benign |
Het |
| Tpbg |
C |
T |
9: 85,725,991 (GRCm39) |
|
probably benign |
Het |
| Troap |
T |
C |
15: 98,975,444 (GRCm39) |
I176T |
probably benign |
Het |
| Trpm2 |
G |
A |
10: 77,778,776 (GRCm39) |
Q397* |
probably null |
Het |
| Trpm2 |
A |
T |
10: 77,785,032 (GRCm39) |
V196E |
probably damaging |
Het |
| Vac14 |
T |
A |
8: 111,361,018 (GRCm39) |
I196N |
probably damaging |
Het |
| Vmn2r71 |
C |
T |
7: 85,273,694 (GRCm39) |
P836L |
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 |
|
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 |
|
U24488:Kif2c
|
UTSW |
4 |
117,039,639 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TATGTATTAGGATAAGGCCCCAGG -3'
(R):5'- TGGCTTGGAAACTGGAACCC -3'
Sequencing Primer
(F):5'- AGACAAAAATCAGCAAGAAGGTACC -3'
(R):5'- GCTTGGAAACTGGAACCCCATTC -3'
|
| Posted On |
2022-03-25 |
Incidental Mutation