Incidental Mutation 'IGL02161:Kifc2'
| ID |
282468 |
| 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 # |
IGL02161
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
76544058-76552396 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 76550245 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 468
(E468G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004294
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004294]
[ENSMUST00000037824]
[ENSMUST00000230451]
[ENSMUST00000230964]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004294
AA Change: E468G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000004294
Gene: ENSMUSG00000004187
AA Change: E468G
| 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 |
noncoding transcript
Transcript: ENSMUST00000229112
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000229513
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000230207
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000230451
AA Change: E383G
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000230964
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
A |
T |
12: 118,838,490 (GRCm39) |
V1024D |
probably benign |
Het |
| Alox5 |
T |
A |
6: 116,400,154 (GRCm39) |
M262L |
probably benign |
Het |
| Arid5b |
T |
C |
10: 67,932,498 (GRCm39) |
T1135A |
probably benign |
Het |
| Ascc3 |
T |
A |
10: 50,726,623 (GRCm39) |
Y2177* |
probably null |
Het |
| Birc6 |
A |
C |
17: 74,855,832 (GRCm39) |
H214P |
probably damaging |
Het |
| Catsperb |
T |
A |
12: 101,375,674 (GRCm39) |
|
probably benign |
Het |
| Ccr1l1 |
G |
A |
9: 123,778,000 (GRCm39) |
T149I |
possibly damaging |
Het |
| Cfap57 |
T |
G |
4: 118,436,569 (GRCm39) |
R942S |
possibly damaging |
Het |
| Crocc |
G |
A |
4: 140,761,302 (GRCm39) |
A941V |
probably benign |
Het |
| Csde1 |
A |
G |
3: 102,957,654 (GRCm39) |
Q471R |
probably damaging |
Het |
| Csmd1 |
C |
T |
8: 16,408,426 (GRCm39) |
V380I |
probably damaging |
Het |
| Dhx8 |
A |
T |
11: 101,648,432 (GRCm39) |
Q857L |
probably damaging |
Het |
| Eftud2 |
A |
G |
11: 102,745,702 (GRCm39) |
|
probably benign |
Het |
| Fat3 |
C |
A |
9: 15,908,346 (GRCm39) |
R2552I |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,908,347 (GRCm39) |
R2552* |
probably null |
Het |
| Fbln7 |
A |
T |
2: 128,731,711 (GRCm39) |
K166I |
probably benign |
Het |
| Glrx2 |
C |
T |
1: 143,615,421 (GRCm39) |
S8L |
possibly damaging |
Het |
| Grin2d |
T |
G |
7: 45,503,846 (GRCm39) |
I630L |
possibly damaging |
Het |
| Gsap |
T |
A |
5: 21,458,377 (GRCm39) |
W423R |
probably damaging |
Het |
| Kpnb1 |
A |
G |
11: 97,059,762 (GRCm39) |
S566P |
probably benign |
Het |
| Lemd2 |
A |
G |
17: 27,409,625 (GRCm39) |
S509P |
probably damaging |
Het |
| Lepr |
T |
C |
4: 101,602,875 (GRCm39) |
F221S |
probably damaging |
Het |
| Nynrin |
T |
C |
14: 56,101,441 (GRCm39) |
F370S |
probably damaging |
Het |
| Or51a10 |
C |
A |
7: 103,698,797 (GRCm39) |
V255L |
possibly damaging |
Het |
| Pcdhb15 |
T |
A |
18: 37,608,555 (GRCm39) |
S596T |
possibly damaging |
Het |
| Prkcq |
G |
T |
2: 11,281,887 (GRCm39) |
S472I |
probably benign |
Het |
| Rabgef1 |
T |
C |
5: 130,235,940 (GRCm39) |
|
probably benign |
Het |
| Rnd3 |
C |
T |
2: 51,024,088 (GRCm39) |
V164M |
probably benign |
Het |
| Rtn4rl1 |
G |
A |
11: 75,156,666 (GRCm39) |
R366Q |
probably damaging |
Het |
| Sesn2 |
A |
T |
4: 132,224,229 (GRCm39) |
I393N |
probably damaging |
Het |
| St8sia2 |
T |
C |
7: 73,626,430 (GRCm39) |
N46S |
probably benign |
Het |
| Svopl |
A |
G |
6: 38,013,750 (GRCm39) |
|
probably benign |
Het |
| Tbr1 |
C |
T |
2: 61,635,583 (GRCm39) |
Q178* |
probably null |
Het |
| Vax2 |
T |
C |
6: 83,714,885 (GRCm39) |
S267P |
probably damaging |
Het |
| Vmn1r47 |
T |
A |
6: 89,999,298 (GRCm39) |
Y143* |
probably null |
Het |
| Vmn2r28 |
A |
G |
7: 5,491,123 (GRCm39) |
S375P |
possibly damaging |
Het |
| Vmn2r44 |
A |
T |
7: 8,380,814 (GRCm39) |
Y360N |
possibly damaging |
Het |
| Zc3h6 |
G |
A |
2: 128,835,146 (GRCm39) |
S94N |
possibly damaging |
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 |
|
|
IGL02675:Kifc2
|
APN |
15 |
76,547,179 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02997:Kifc2
|
APN |
15 |
76,548,539 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
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 |
2015-04-16 |
Incidental Mutation