Incidental Mutation 'IGL02997:Kifc2'
ID |
407171 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kifc2
|
Ensembl Gene |
ENSMUSG00000004187 |
Gene Name |
kinesin family member C2 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL02997
|
Quality Score |
|
Status
|
|
Chromosome |
15 |
Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 76548539 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Alanine
at position 342
(V342A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000155536
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000037824]
[ENSMUST00000066677]
[ENSMUST00000081291]
[ENSMUST00000177359]
[ENSMUST00000230451]
[ENSMUST00000231152]
[ENSMUST00000230964]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000004294
AA Change: V427A
PolyPhen 2
Score 0.210 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000004294 Gene: ENSMUSG00000004187 AA Change: V427A
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
low complexity region
|
36 |
45 |
N/A |
INTRINSIC |
low complexity region
|
117 |
129 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
coiled coil region
|
195 |
235 |
N/A |
INTRINSIC |
coiled coil region
|
274 |
345 |
N/A |
INTRINSIC |
KISc
|
407 |
740 |
3.21e-141 |
SMART |
low complexity region
|
745 |
781 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000037824
|
SMART Domains |
Protein: ENSMUSP00000036591 Gene: ENSMUSG00000033837
Domain | Start | End | E-Value | Type |
FH
|
62 |
152 |
2.71e-34 |
SMART |
low complexity region
|
183 |
194 |
N/A |
INTRINSIC |
low complexity region
|
331 |
345 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000066677
|
SMART Domains |
Protein: ENSMUSP00000063317 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000081291
|
SMART Domains |
Protein: ENSMUSP00000080043 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
SCOP:d1jm7a_
|
21 |
88 |
3e-5 |
SMART |
Blast:RING
|
27 |
62 |
8e-15 |
BLAST |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000177359
|
SMART Domains |
Protein: ENSMUSP00000135505 Gene: ENSMUSG00000053929
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
transmembrane domain
|
35 |
52 |
N/A |
INTRINSIC |
transmembrane domain
|
62 |
84 |
N/A |
INTRINSIC |
transmembrane domain
|
91 |
108 |
N/A |
INTRINSIC |
transmembrane domain
|
113 |
135 |
N/A |
INTRINSIC |
low complexity region
|
151 |
163 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229112
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229513
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000230451
AA Change: V342A
PolyPhen 2
Score 0.827 (Sensitivity: 0.84; Specificity: 0.93)
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000231152
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230719
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230207
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a knock-out allele are viable and fertile with no apparent defects in development or behavior. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 41 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
Adamts15 |
T |
C |
9: 30,817,353 (GRCm39) |
|
probably benign |
Het |
Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
Gys2 |
A |
T |
6: 142,395,195 (GRCm39) |
D423E |
probably damaging |
Het |
H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
Kif18b |
A |
G |
11: 102,799,910 (GRCm39) |
L513P |
probably damaging |
Het |
Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
Rnf168 |
G |
A |
16: 32,104,239 (GRCm39) |
E146K |
probably damaging |
Het |
Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
Sf3a2 |
G |
A |
10: 80,639,454 (GRCm39) |
R148H |
probably damaging |
Het |
Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
probably null |
Het |
|
Other mutations in Kifc2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00231:Kifc2
|
APN |
15 |
76,551,662 (GRCm39) |
utr 3 prime |
probably benign |
|
IGL01341:Kifc2
|
APN |
15 |
76,547,098 (GRCm39) |
critical splice donor site |
probably null |
|
IGL02161:Kifc2
|
APN |
15 |
76,550,245 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02675:Kifc2
|
APN |
15 |
76,547,179 (GRCm39) |
missense |
probably damaging |
1.00 |
R0034:Kifc2
|
UTSW |
15 |
76,551,300 (GRCm39) |
missense |
probably benign |
0.18 |
R1818:Kifc2
|
UTSW |
15 |
76,550,281 (GRCm39) |
missense |
probably damaging |
1.00 |
R1961:Kifc2
|
UTSW |
15 |
76,547,025 (GRCm39) |
missense |
probably damaging |
1.00 |
R2104:Kifc2
|
UTSW |
15 |
76,545,454 (GRCm39) |
missense |
probably damaging |
0.99 |
R2149:Kifc2
|
UTSW |
15 |
76,546,421 (GRCm39) |
missense |
probably benign |
0.00 |
R3086:Kifc2
|
UTSW |
15 |
76,551,452 (GRCm39) |
missense |
probably benign |
0.01 |
R4704:Kifc2
|
UTSW |
15 |
76,547,177 (GRCm39) |
splice site |
probably null |
|
R4782:Kifc2
|
UTSW |
15 |
76,548,548 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4834:Kifc2
|
UTSW |
15 |
76,545,511 (GRCm39) |
start codon destroyed |
probably null |
0.48 |
R5085:Kifc2
|
UTSW |
15 |
76,545,496 (GRCm39) |
missense |
probably damaging |
1.00 |
R5160:Kifc2
|
UTSW |
15 |
76,547,177 (GRCm39) |
missense |
probably damaging |
1.00 |
R5253:Kifc2
|
UTSW |
15 |
76,550,481 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5543:Kifc2
|
UTSW |
15 |
76,551,242 (GRCm39) |
missense |
probably damaging |
0.99 |
R5786:Kifc2
|
UTSW |
15 |
76,548,578 (GRCm39) |
missense |
probably damaging |
1.00 |
R5805:Kifc2
|
UTSW |
15 |
76,546,353 (GRCm39) |
missense |
probably benign |
0.00 |
R7290:Kifc2
|
UTSW |
15 |
76,544,904 (GRCm39) |
missense |
probably damaging |
1.00 |
R7311:Kifc2
|
UTSW |
15 |
76,547,010 (GRCm39) |
missense |
probably damaging |
1.00 |
R7511:Kifc2
|
UTSW |
15 |
76,545,537 (GRCm39) |
missense |
possibly damaging |
0.50 |
R7782:Kifc2
|
UTSW |
15 |
76,548,328 (GRCm39) |
missense |
probably benign |
0.00 |
R8816:Kifc2
|
UTSW |
15 |
76,548,371 (GRCm39) |
missense |
probably damaging |
1.00 |
R8834:Kifc2
|
UTSW |
15 |
76,551,250 (GRCm39) |
missense |
probably damaging |
1.00 |
R9010:Kifc2
|
UTSW |
15 |
76,550,885 (GRCm39) |
missense |
possibly damaging |
0.69 |
R9574:Kifc2
|
UTSW |
15 |
76,546,397 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Kifc2
|
UTSW |
15 |
76,545,488 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
Posted On |
2016-08-02 |