Incidental Mutation 'R6081:Krtap5-3'
| ID |
482920 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Krtap5-3
|
| Ensembl Gene |
ENSMUSG00000046248 |
| Gene Name |
keratin associated protein 5-3 |
| Synonyms |
A030007E19Rik |
| MMRRC Submission |
044240-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.099)
|
| Stock # |
R6081 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
141755101-141756752 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 141755223 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Cysteine to Tyrosine
at position 20
(C20Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000141116
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084414]
[ENSMUST00000187512]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
unknown
Transcript: ENSMUST00000084414
AA Change: C20Y
|
| SMART Domains |
Protein: ENSMUSP00000081451
Gene: ENSMUSG00000046248
AA Change: C20Y
| 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: C20Y
|
| SMART Domains |
Protein: ENSMUSP00000141116
Gene: ENSMUSG00000046248
AA Change: C20Y
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
356 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930522L14Rik |
A |
T |
5: 109,887,097 (GRCm39) |
M33K |
probably damaging |
Het |
| 4930556J24Rik |
T |
C |
11: 3,888,140 (GRCm39) |
Q82R |
unknown |
Het |
| Adcy9 |
T |
C |
16: 4,112,545 (GRCm39) |
D714G |
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Ahctf1 |
G |
T |
1: 179,609,237 (GRCm39) |
A639E |
probably benign |
Het |
| Ank3 |
G |
A |
10: 69,838,395 (GRCm39) |
R1566K |
possibly damaging |
Het |
| Anxa5 |
C |
T |
3: 36,519,436 (GRCm39) |
D18N |
probably damaging |
Het |
| Apc |
C |
T |
18: 34,423,164 (GRCm39) |
P299L |
possibly damaging |
Het |
| Btnl4 |
C |
A |
17: 34,693,210 (GRCm39) |
W68C |
probably damaging |
Het |
| Cmya5 |
T |
A |
13: 93,281,021 (GRCm39) |
|
probably benign |
Het |
| Cstf2t |
G |
T |
19: 31,060,523 (GRCm39) |
V20L |
probably benign |
Het |
| D630045J12Rik |
A |
T |
6: 38,119,633 (GRCm39) |
V1703E |
probably damaging |
Het |
| Dhx32 |
A |
G |
7: 133,323,941 (GRCm39) |
F535S |
probably damaging |
Het |
| Diras2 |
T |
C |
13: 52,662,181 (GRCm39) |
D42G |
probably damaging |
Het |
| Dppa3 |
T |
A |
6: 122,606,931 (GRCm39) |
D140E |
probably damaging |
Het |
| Gpr180 |
C |
T |
14: 118,391,086 (GRCm39) |
T205I |
probably benign |
Het |
| Gzme |
T |
G |
14: 56,355,764 (GRCm39) |
T183P |
possibly damaging |
Het |
| H2-T23 |
T |
A |
17: 36,342,707 (GRCm39) |
I144F |
possibly damaging |
Het |
| Hlx |
T |
C |
1: 184,459,894 (GRCm39) |
S415G |
probably benign |
Het |
| Mcm8 |
G |
T |
2: 132,670,003 (GRCm39) |
R359L |
probably benign |
Het |
| Mroh2b |
G |
C |
15: 4,973,859 (GRCm39) |
E1126Q |
probably damaging |
Het |
| Nav1 |
C |
T |
1: 135,398,560 (GRCm39) |
R674H |
probably damaging |
Het |
| Otx1 |
A |
T |
11: 21,949,406 (GRCm39) |
L24H |
probably damaging |
Het |
| Rnaset2b |
T |
A |
17: 7,256,193 (GRCm39) |
|
probably null |
Het |
| Samd12 |
T |
C |
15: 53,583,074 (GRCm39) |
K87E |
probably benign |
Het |
| Sec16b |
T |
C |
1: 157,388,324 (GRCm39) |
S564P |
probably benign |
Het |
| Speer4a1 |
A |
T |
5: 26,239,960 (GRCm39) |
C263* |
probably null |
Het |
| Susd1 |
C |
A |
4: 59,411,359 (GRCm39) |
C158F |
possibly damaging |
Het |
| Vmn2r6 |
C |
T |
3: 64,463,953 (GRCm39) |
V294M |
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 |
|
|
IGL00341: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 |
|
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ATAAGGAAGTGACCATGTGCTCC -3'
(R):5'- AACTACAGCCTCCCTTGCAG -3'
Sequencing Primer
(F):5'- GCCAGCACACAGAGATATA -3'
(R):5'- GGAACCACAGCCTCCCTTG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation