Incidental Mutation 'R2830:Kif2c'
ID |
254243 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Kif2c
|
Ensembl Gene |
ENSMUSG00000028678 |
Gene Name |
kinesin family member 2C |
Synonyms |
4930402F02Rik |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R2830 (G1)
|
Quality Score |
190 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 117039645 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000122655
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065896]
[ENSMUST00000106436]
[ENSMUST00000153953]
|
AlphaFold |
Q922S8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000065896
AA Change: N15S
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000064261 Gene: ENSMUSG00000028678 AA Change: N15S
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 null
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 |
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 null
Transcript: ENSMUST00000153953
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.1%
- 20x: 94.5%
|
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: 11 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adam28 |
A |
G |
14: 68,864,363 (GRCm39) |
V480A |
possibly damaging |
Het |
Ankrd11 |
T |
C |
8: 123,618,935 (GRCm39) |
D1618G |
probably damaging |
Het |
Cep250 |
G |
A |
2: 155,825,236 (GRCm39) |
D1037N |
probably benign |
Het |
Dmrt1 |
T |
C |
19: 25,580,658 (GRCm39) |
S357P |
probably benign |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Maip1 |
A |
G |
1: 57,454,822 (GRCm39) |
R269G |
possibly damaging |
Het |
Prrc2c |
A |
G |
1: 162,536,485 (GRCm39) |
|
probably benign |
Het |
Shroom3 |
G |
T |
5: 93,090,945 (GRCm39) |
V1151F |
probably damaging |
Het |
Tnrc6a |
T |
C |
7: 122,792,172 (GRCm39) |
*1398Q |
probably null |
Het |
Tns3 |
C |
A |
11: 8,385,870 (GRCm39) |
C1376F |
probably damaging |
Het |
Ttc23l |
CT |
CTTGGATT |
15: 10,537,648 (GRCm39) |
|
probably benign |
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AGTAGCGTTTTCCTCCTGTG -3'
(R):5'- ATATCCCACATTGCTCTGCG -3'
Sequencing Primer
(F):5'- TGTAGGGGACACCGACTG -3'
(R):5'- ACATTGCTCTGCGGTGCG -3'
|
Posted On |
2014-12-04 |