Incidental Mutation 'IGL03084:Kif2c'
| ID |
417987 |
| 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 # |
IGL03084
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
117016830-117039821 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 117035355 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 31
(N31S)
|
| 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: N82S
PolyPhen 2
Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000064261
Gene: ENSMUSG00000028678
AA Change: N82S
| 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: N31S
PolyPhen 2
Score 0.087 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000102044
Gene: ENSMUSG00000028678
AA Change: N31S
| 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 |
possibly damaging
Transcript: ENSMUST00000153953
AA Change: N31S
PolyPhen 2
Score 0.669 (Sensitivity: 0.86; Specificity: 0.91)
|
| 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 |
|---|
| Aars1 |
G |
T |
8: 111,768,261 (GRCm39) |
V211L |
probably damaging |
Het |
| BC024139 |
T |
C |
15: 76,004,007 (GRCm39) |
D753G |
probably benign |
Het |
| Brpf3 |
A |
G |
17: 29,054,751 (GRCm39) |
M1098V |
probably damaging |
Het |
| Cachd1 |
T |
A |
4: 100,860,285 (GRCm39) |
D1285E |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,499,944 (GRCm39) |
T147A |
probably benign |
Het |
| Cdc14a |
A |
G |
3: 116,142,101 (GRCm39) |
|
probably null |
Het |
| Cfhr4 |
T |
A |
1: 139,708,880 (GRCm39) |
L9F |
possibly damaging |
Het |
| Chd1 |
A |
G |
17: 15,990,560 (GRCm39) |
H1704R |
probably benign |
Het |
| Dmkn |
T |
G |
7: 30,470,481 (GRCm39) |
N367K |
possibly damaging |
Het |
| Fam151b |
C |
A |
13: 92,604,534 (GRCm39) |
D152Y |
probably damaging |
Het |
| Gabrg3 |
T |
C |
7: 56,384,812 (GRCm39) |
S250G |
possibly damaging |
Het |
| Gm28042 |
A |
G |
2: 119,870,986 (GRCm39) |
Q833R |
probably benign |
Het |
| Gnpat |
A |
C |
8: 125,605,638 (GRCm39) |
Y336S |
probably damaging |
Het |
| Ighv1-54 |
G |
A |
12: 115,157,736 (GRCm39) |
|
probably benign |
Het |
| Irag1 |
A |
G |
7: 110,485,036 (GRCm39) |
|
probably benign |
Het |
| Larp1 |
T |
A |
11: 57,947,921 (GRCm39) |
L939Q |
probably damaging |
Het |
| Lrrc69 |
G |
A |
4: 14,708,631 (GRCm39) |
P238S |
probably damaging |
Het |
| Lypd10 |
T |
C |
7: 24,413,605 (GRCm39) |
I207T |
possibly damaging |
Het |
| Lztfl1 |
C |
T |
9: 123,538,641 (GRCm39) |
G152E |
probably damaging |
Het |
| Man2a2 |
T |
C |
7: 80,002,691 (GRCm39) |
T1097A |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,142,777 (GRCm39) |
|
probably null |
Het |
| Nab2 |
C |
T |
10: 127,500,346 (GRCm39) |
V249M |
probably damaging |
Het |
| Nid2 |
A |
T |
14: 19,819,000 (GRCm39) |
D498V |
probably benign |
Het |
| Nrap |
T |
C |
19: 56,353,886 (GRCm39) |
T404A |
probably damaging |
Het |
| Or51i1 |
A |
G |
7: 103,670,838 (GRCm39) |
V229A |
probably benign |
Het |
| Or5al7 |
A |
T |
2: 85,992,569 (GRCm39) |
C241* |
probably null |
Het |
| Or5c1 |
T |
C |
2: 37,222,413 (GRCm39) |
I218T |
probably damaging |
Het |
| Or8c9 |
T |
G |
9: 38,241,513 (GRCm39) |
I210S |
probably damaging |
Het |
| Pard3 |
A |
G |
8: 128,319,573 (GRCm39) |
I1104V |
probably damaging |
Het |
| Pcna |
C |
T |
2: 132,093,673 (GRCm39) |
E109K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Ppfia3 |
A |
G |
7: 44,989,651 (GRCm39) |
V1187A |
probably benign |
Het |
| Ppp1r16b |
G |
A |
2: 158,603,413 (GRCm39) |
W346* |
probably null |
Het |
| Rpl4 |
A |
G |
9: 64,085,599 (GRCm39) |
|
probably benign |
Het |
| Scn8a |
A |
T |
15: 100,915,053 (GRCm39) |
I1206F |
probably damaging |
Het |
| Slc5a2 |
T |
C |
7: 127,865,776 (GRCm39) |
S61P |
probably benign |
Het |
| Smarcal1 |
T |
C |
1: 72,638,094 (GRCm39) |
|
probably null |
Het |
| Smyd4 |
A |
G |
11: 75,281,433 (GRCm39) |
H302R |
probably benign |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Stx8 |
C |
T |
11: 67,911,782 (GRCm39) |
Q167* |
probably null |
Het |
| Sycp2 |
C |
A |
2: 178,033,584 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
T |
2: 76,626,742 (GRCm39) |
V13088D |
probably damaging |
Het |
| Ugt2b1 |
T |
A |
5: 87,074,243 (GRCm39) |
M39L |
probably benign |
Het |
| Utp6 |
A |
T |
11: 79,853,042 (GRCm39) |
|
probably null |
Het |
| Vmn1r189 |
A |
T |
13: 22,286,008 (GRCm39) |
Y276* |
probably null |
Het |
| Vmn2r11 |
T |
A |
5: 109,207,209 (GRCm39) |
D37V |
probably benign |
Het |
| Vmn2r16 |
T |
G |
5: 109,478,292 (GRCm39) |
F16V |
probably damaging |
Het |
| Vmn2r65 |
A |
T |
7: 84,592,354 (GRCm39) |
M538K |
probably damaging |
Het |
| Zfp143 |
T |
A |
7: 109,668,818 (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 |
|
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 |
2016-08-02 |
Incidental Mutation