Incidental Mutation 'R6942:Kif2c'
| ID |
557090 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kif2c
|
| Ensembl Gene |
ENSMUSG00000028678 |
| Gene Name |
kinesin family member 2C |
| Synonyms |
4930402F02Rik |
| MMRRC Submission |
045056-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6942 (G1)
|
| Quality Score |
58.0073 |
|
Status
|
Validated
|
| Chromosome |
4 |
| Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 117023575 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 379
(L379P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102044
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000065896]
[ENSMUST00000106436]
|
| AlphaFold |
Q922S8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000065896
AA Change: L430P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: L430P
| 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: L379P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: L379P
| 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 |
|
| Meta Mutation Damage Score |
0.9670 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.8%
- 10x: 98.9%
- 20x: 96.2%
|
| Validation Efficiency |
100% (49/49) |
| 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 |
|---|
| Acacb |
T |
C |
5: 114,330,024 (GRCm39) |
|
probably null |
Het |
| Adap2 |
A |
G |
11: 80,045,891 (GRCm39) |
D57G |
probably benign |
Het |
| Atmin |
G |
T |
8: 117,683,452 (GRCm39) |
V371F |
probably benign |
Het |
| Cacna1h |
G |
T |
17: 25,604,013 (GRCm39) |
A1273E |
probably benign |
Het |
| Cdh23 |
G |
A |
10: 60,274,635 (GRCm39) |
T483I |
possibly damaging |
Het |
| Cnot9 |
T |
A |
1: 74,558,154 (GRCm39) |
V100E |
probably damaging |
Het |
| Cog2 |
T |
A |
8: 125,271,875 (GRCm39) |
V463D |
probably benign |
Het |
| Crybg3 |
C |
T |
16: 59,360,183 (GRCm39) |
R2500H |
possibly damaging |
Het |
| Cyp11b2 |
G |
A |
15: 74,728,094 (GRCm39) |
|
probably benign |
Het |
| Cyp2j12 |
A |
T |
4: 96,001,101 (GRCm39) |
|
probably null |
Het |
| Dipk1c |
A |
C |
18: 84,748,549 (GRCm39) |
Y49S |
possibly damaging |
Het |
| Dlc1 |
T |
C |
8: 37,405,364 (GRCm39) |
K142E |
probably benign |
Het |
| Dpp6 |
G |
A |
5: 27,674,457 (GRCm39) |
V140M |
possibly damaging |
Het |
| Fktn |
G |
A |
4: 53,735,128 (GRCm39) |
|
probably null |
Het |
| Gas7 |
A |
T |
11: 67,550,977 (GRCm39) |
|
probably null |
Het |
| Grin3b |
T |
A |
10: 79,811,953 (GRCm39) |
|
probably null |
Het |
| Hhatl |
G |
A |
9: 121,617,246 (GRCm39) |
A329V |
probably benign |
Het |
| Homer3 |
C |
T |
8: 70,744,201 (GRCm39) |
T276I |
probably benign |
Het |
| Igdcc4 |
G |
A |
9: 65,027,550 (GRCm39) |
S204N |
probably benign |
Het |
| Ino80 |
A |
G |
2: 119,213,983 (GRCm39) |
F1196L |
probably damaging |
Het |
| Iqsec3 |
C |
T |
6: 121,450,062 (GRCm39) |
C154Y |
probably damaging |
Het |
| Kank1 |
A |
T |
19: 25,401,537 (GRCm39) |
D1048V |
possibly damaging |
Het |
| Kpna6 |
A |
T |
4: 129,545,514 (GRCm39) |
|
probably null |
Het |
| Large2 |
C |
T |
2: 92,201,167 (GRCm39) |
R28H |
probably damaging |
Het |
| Map4k2 |
T |
A |
19: 6,396,739 (GRCm39) |
W552R |
possibly damaging |
Het |
| Mark3 |
A |
G |
12: 111,559,088 (GRCm39) |
I43M |
probably null |
Het |
| Med13l |
C |
A |
5: 118,883,071 (GRCm39) |
|
probably null |
Het |
| Mtbp |
T |
A |
15: 55,430,596 (GRCm39) |
Y218N |
probably damaging |
Het |
| Or52n5 |
C |
T |
7: 104,588,104 (GRCm39) |
R124C |
possibly damaging |
Het |
| Pcdhgb5 |
T |
C |
18: 37,865,696 (GRCm39) |
L497P |
probably damaging |
Het |
| Pkhd1l1 |
A |
G |
15: 44,386,025 (GRCm39) |
T1221A |
probably damaging |
Het |
| Pth1r |
C |
T |
9: 110,557,084 (GRCm39) |
|
probably null |
Het |
| Samd8 |
T |
C |
14: 21,825,221 (GRCm39) |
I59T |
possibly damaging |
Het |
| Scgb2b18 |
A |
G |
7: 32,871,564 (GRCm39) |
V85A |
possibly damaging |
Het |
| Sema6c |
G |
T |
3: 95,080,519 (GRCm39) |
V906L |
probably benign |
Het |
| Semp2l2b |
A |
T |
10: 21,943,160 (GRCm39) |
D273E |
probably benign |
Het |
| Serpinb9g |
A |
T |
13: 33,678,888 (GRCm39) |
T253S |
probably benign |
Het |
| Sipa1l3 |
T |
C |
7: 29,085,516 (GRCm39) |
T694A |
probably damaging |
Het |
| Slc8a1 |
A |
G |
17: 81,715,549 (GRCm39) |
L828P |
probably damaging |
Het |
| Spry1 |
T |
A |
3: 37,697,193 (GRCm39) |
D145E |
probably benign |
Het |
| Stat6 |
A |
T |
10: 127,487,131 (GRCm39) |
N213Y |
probably damaging |
Het |
| Tep1 |
A |
G |
14: 51,074,194 (GRCm39) |
V1897A |
possibly damaging |
Het |
| Tmem45a |
T |
C |
16: 56,646,145 (GRCm39) |
N25S |
probably benign |
Het |
| Tmem70 |
T |
A |
1: 16,747,380 (GRCm39) |
Y166N |
probably damaging |
Het |
| Trrap |
T |
A |
5: 144,720,853 (GRCm39) |
I230N |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,732,190 (GRCm39) |
|
probably benign |
Het |
| Unc79 |
T |
A |
12: 103,088,704 (GRCm39) |
|
probably null |
Het |
| Vmn1r43 |
T |
A |
6: 89,847,319 (GRCm39) |
I56F |
probably benign |
Het |
| Zfyve16 |
A |
T |
13: 92,653,139 (GRCm39) |
N815K |
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 |
|
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 |
|
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'- ATCTGCTCTACGAGGTCCCTAG -3'
(R):5'- ATGGGTTCACTTGCTAGGTC -3'
Sequencing Primer
(F):5'- CTGCTGTGCTGACTATGAGAAAG -3'
(R):5'- GGTTCACTTGCTAGGTCTGTTAC -3'
|
| Posted On |
2019-06-12 |
Incidental Mutation