Incidental Mutation 'R1143:Car13'
| ID |
102196 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car13
|
| Ensembl Gene |
ENSMUSG00000027555 |
| Gene Name |
carbonic anhydrase 13 |
| Synonyms |
2310075C21Rik |
| MMRRC Submission |
039216-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1143 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
14706787-14728062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 14721328 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Valine
at position 164
(I164V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029071]
|
| AlphaFold |
Q9D6N1 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029071
AA Change: I164V
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555
AA Change: I164V
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
6 |
261 |
1.91e-139 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.5%
- 20x: 93.3%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Carbonic anhydrases (CAs) are a family of zinc metalloenzymes. For background information on the CA family, see MIM 114800.[supplied by OMIM, Mar 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 13 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Apob |
A |
C |
12: 8,062,354 (GRCm39) |
D3612A |
probably benign |
Het |
| Bcr |
G |
A |
10: 74,897,197 (GRCm39) |
E114K |
probably benign |
Het |
| Dner |
C |
T |
1: 84,423,185 (GRCm39) |
A473T |
probably damaging |
Het |
| Fbxw15 |
G |
A |
9: 109,387,314 (GRCm39) |
S227F |
probably damaging |
Het |
| Gm7247 |
T |
C |
14: 51,760,875 (GRCm39) |
V148A |
probably benign |
Het |
| Htr1a |
T |
C |
13: 105,581,576 (GRCm39) |
V272A |
probably benign |
Het |
| Lmnb2 |
CGCTGCTGCTGCTGCTGCT |
CGCTGCTGCTGCTGCT |
10: 80,740,149 (GRCm39) |
|
probably benign |
Het |
| Myh15 |
A |
G |
16: 48,885,449 (GRCm39) |
H108R |
probably benign |
Het |
| Skint2 |
T |
A |
4: 112,483,133 (GRCm39) |
N179K |
probably benign |
Het |
| Smarcad1 |
G |
A |
6: 65,073,678 (GRCm39) |
R645H |
probably benign |
Het |
| Tbc1d5 |
G |
A |
17: 51,049,087 (GRCm39) |
Q690* |
probably null |
Het |
| Vmn1r28 |
T |
C |
6: 58,242,727 (GRCm39) |
V190A |
probably benign |
Het |
| Zfhx3 |
T |
A |
8: 109,521,043 (GRCm39) |
C722S |
probably damaging |
Het |
|
| Other mutations in Car13 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00338:Car13
|
APN |
3 |
14,721,964 (GRCm39) |
splice site |
probably benign |
|
|
IGL01894:Car13
|
APN |
3 |
14,726,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03124:Car13
|
APN |
3 |
14,722,000 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R0374:Car13
|
UTSW |
3 |
14,721,357 (GRCm39) |
splice site |
probably benign |
|
|
R0396:Car13
|
UTSW |
3 |
14,721,299 (GRCm39) |
missense |
probably benign |
|
|
R1087:Car13
|
UTSW |
3 |
14,706,885 (GRCm39) |
nonsense |
probably null |
|
|
R1566:Car13
|
UTSW |
3 |
14,715,758 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1769:Car13
|
UTSW |
3 |
14,715,795 (GRCm39) |
missense |
probably benign |
|
|
R1896:Car13
|
UTSW |
3 |
14,710,235 (GRCm39) |
missense |
probably benign |
0.00 |
|
R4757:Car13
|
UTSW |
3 |
14,726,615 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5645:Car13
|
UTSW |
3 |
14,710,180 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
R5699:Car13
|
UTSW |
3 |
14,715,749 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5810:Car13
|
UTSW |
3 |
14,706,828 (GRCm39) |
splice site |
probably null |
|
|
R7161:Car13
|
UTSW |
3 |
14,710,268 (GRCm39) |
missense |
probably benign |
|
|
R7794:Car13
|
UTSW |
3 |
14,719,948 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF002:Car13
|
UTSW |
3 |
14,719,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Predicted Primers |
PCR Primer
(F):5'- CAGCCAGTCTGGTTCTATATGCCAC -3'
(R):5'- TGCAGTCTGGGTCTGTTAAGTTGAAAC -3'
Sequencing Primer
(F):5'- ctgacaccctcttatgttctcc -3'
(R):5'- GTCTGTTAAGTTGAAACTTGCTTC -3'
|
| Posted On |
2014-01-15 |
Incidental Mutation