Incidental Mutation 'IGL00341:Krtap5-3'
| ID |
332355 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Krtap5-3
|
| Ensembl Gene |
ENSMUSG00000046248 |
| Gene Name |
keratin associated protein 5-3 |
| Synonyms |
A030007E19Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.094)
|
| Stock # |
IGL00341
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
141755101-141756752 bp(+) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
G to T
at 141755612 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000081451
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084414]
[ENSMUST00000187512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000084414
|
| SMART Domains |
Protein: ENSMUSP00000081451
Gene: ENSMUSG00000046248
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
126 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
174 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000187512
AA Change: G150C
|
| SMART Domains |
Protein: ENSMUSP00000141116
Gene: ENSMUSG00000046248
AA Change: G150C
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
356 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgef5 |
T |
A |
6: 43,257,203 (GRCm39) |
Y519* |
probably null |
Het |
| Bahcc1 |
A |
G |
11: 120,163,130 (GRCm39) |
Y476C |
probably damaging |
Het |
| Bclaf1 |
A |
T |
10: 20,201,745 (GRCm39) |
E295D |
probably damaging |
Het |
| Bend3 |
A |
G |
10: 43,387,539 (GRCm39) |
D644G |
probably damaging |
Het |
| Ccdc122 |
G |
A |
14: 77,329,179 (GRCm39) |
M77I |
probably benign |
Het |
| Ccna1 |
A |
G |
3: 54,958,076 (GRCm39) |
V143A |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,162,480 (GRCm39) |
R30G |
probably benign |
Het |
| Hoxc4 |
A |
G |
15: 102,944,264 (GRCm39) |
D214G |
probably damaging |
Het |
| Itsn2 |
A |
T |
12: 4,708,027 (GRCm39) |
T778S |
possibly damaging |
Het |
| Kcnn2 |
A |
G |
18: 45,810,138 (GRCm39) |
|
probably benign |
Het |
| Lgr5 |
G |
T |
10: 115,290,369 (GRCm39) |
Q516K |
possibly damaging |
Het |
| Lrpprc |
T |
C |
17: 85,057,953 (GRCm39) |
K759R |
possibly damaging |
Het |
| Mtfr2 |
A |
G |
10: 20,233,394 (GRCm39) |
D321G |
probably damaging |
Het |
| Nip7 |
A |
G |
8: 107,783,802 (GRCm39) |
Y45C |
possibly damaging |
Het |
| Or4c111 |
T |
C |
2: 88,844,268 (GRCm39) |
I47V |
probably benign |
Het |
| Pak1ip1 |
A |
T |
13: 41,161,494 (GRCm39) |
T84S |
possibly damaging |
Het |
| Ptpn20 |
C |
A |
14: 33,344,576 (GRCm39) |
R167S |
probably benign |
Het |
| Rab4b |
C |
T |
7: 26,872,151 (GRCm39) |
G190S |
probably damaging |
Het |
| Ropn1l |
T |
A |
15: 31,443,495 (GRCm39) |
D179V |
probably damaging |
Het |
| Shc2 |
C |
T |
10: 79,456,903 (GRCm39) |
R571Q |
probably damaging |
Het |
| Smad1 |
A |
G |
8: 80,083,098 (GRCm39) |
V134A |
probably damaging |
Het |
| Smad6 |
A |
G |
9: 63,861,263 (GRCm39) |
V344A |
probably damaging |
Het |
| Tet2 |
A |
G |
3: 133,193,846 (GRCm39) |
L196P |
possibly damaging |
Het |
| Tmem64 |
T |
A |
4: 15,266,694 (GRCm39) |
V248E |
probably damaging |
Het |
| Ttc7 |
C |
T |
17: 87,670,992 (GRCm39) |
T709I |
possibly damaging |
Het |
| Usp31 |
A |
G |
7: 121,305,893 (GRCm39) |
L195P |
probably damaging |
Het |
| Vmn2r112 |
G |
A |
17: 22,837,917 (GRCm39) |
V793I |
probably benign |
Het |
| Xpo5 |
T |
G |
17: 46,535,973 (GRCm39) |
L535R |
probably damaging |
Het |
| Ythdc2 |
A |
T |
18: 44,983,464 (GRCm39) |
M544L |
probably benign |
Het |
|
| Other mutations in Krtap5-3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00328:Krtap5-3
|
APN |
7 |
141,755,612 (GRCm39) |
intron |
probably benign |
|
|
IGL02170:Krtap5-3
|
APN |
7 |
141,756,215 (GRCm39) |
missense |
unknown |
|
|
IGL03137:Krtap5-3
|
APN |
7 |
141,755,946 (GRCm39) |
intron |
probably benign |
|
|
R1888:Krtap5-3
|
UTSW |
7 |
141,755,979 (GRCm39) |
intron |
probably benign |
|
|
R1888:Krtap5-3
|
UTSW |
7 |
141,755,979 (GRCm39) |
intron |
probably benign |
|
|
R5215:Krtap5-3
|
UTSW |
7 |
141,755,974 (GRCm39) |
nonsense |
probably null |
|
|
R6081:Krtap5-3
|
UTSW |
7 |
141,755,223 (GRCm39) |
missense |
unknown |
|
|
R6529:Krtap5-3
|
UTSW |
7 |
141,756,079 (GRCm39) |
nonsense |
probably null |
|
|
R7102:Krtap5-3
|
UTSW |
7 |
141,755,992 (GRCm39) |
nonsense |
probably null |
|
|
R7528:Krtap5-3
|
UTSW |
7 |
141,755,219 (GRCm39) |
missense |
unknown |
|
|
R7531:Krtap5-3
|
UTSW |
7 |
141,755,942 (GRCm39) |
missense |
unknown |
|
|
R8270:Krtap5-3
|
UTSW |
7 |
141,755,693 (GRCm39) |
missense |
unknown |
|
|
R8331:Krtap5-3
|
UTSW |
7 |
141,755,563 (GRCm39) |
nonsense |
probably null |
|
|
R8552:Krtap5-3
|
UTSW |
7 |
141,756,089 (GRCm39) |
intron |
probably benign |
|
|
R8998:Krtap5-3
|
UTSW |
7 |
141,755,933 (GRCm39) |
missense |
unknown |
|
|
R9299:Krtap5-3
|
UTSW |
7 |
141,756,267 (GRCm39) |
missense |
unknown |
|
|
R9337:Krtap5-3
|
UTSW |
7 |
141,756,267 (GRCm39) |
missense |
unknown |
|
|
R9484:Krtap5-3
|
UTSW |
7 |
141,756,068 (GRCm39) |
missense |
unknown |
|
|
Z1177:Krtap5-3
|
UTSW |
7 |
141,755,790 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2015-08-05 |
Incidental Mutation