Incidental Mutation 'IGL01894:Car13'
| ID |
179343 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Car13
|
| Ensembl Gene |
ENSMUSG00000027555 |
| Gene Name |
carbonic anhydrase 13 |
| Synonyms |
2310075C21Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01894
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
14706787-14728062 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 14726525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 227
(F227S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029071
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029071]
|
| AlphaFold |
Q9D6N1 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029071
AA Change: F227S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029071
Gene: ENSMUSG00000027555
AA Change: F227S
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
6 |
261 |
1.91e-139 |
SMART |
|
| Coding Region Coverage |
|
| 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: 25 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam29 |
T |
A |
8: 56,324,865 (GRCm39) |
I530L |
probably benign |
Het |
| Adam3 |
T |
C |
8: 25,177,954 (GRCm39) |
D653G |
probably benign |
Het |
| Cdc27 |
T |
C |
11: 104,417,747 (GRCm39) |
N300S |
probably benign |
Het |
| Fat3 |
C |
T |
9: 16,287,145 (GRCm39) |
V793I |
probably benign |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gpa33 |
T |
A |
1: 165,992,785 (GRCm39) |
D299E |
probably benign |
Het |
| Kif5a |
C |
T |
10: 127,098,648 (GRCm39) |
V40I |
probably benign |
Het |
| Lama3 |
A |
G |
18: 12,705,121 (GRCm39) |
H1455R |
probably benign |
Het |
| Lamc1 |
T |
C |
1: 153,122,828 (GRCm39) |
K751E |
possibly damaging |
Het |
| Nek5 |
T |
A |
8: 22,603,835 (GRCm39) |
H114L |
probably damaging |
Het |
| Nipal1 |
G |
A |
5: 72,820,882 (GRCm39) |
A37T |
probably benign |
Het |
| Or13a24 |
T |
C |
7: 140,154,683 (GRCm39) |
Y206H |
possibly damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,649 (GRCm39) |
L15I |
probably damaging |
Het |
| Or5b96 |
T |
C |
19: 12,867,007 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,504,175 (GRCm39) |
Y622H |
possibly damaging |
Het |
| Pknox2 |
G |
T |
9: 36,835,038 (GRCm39) |
H144N |
probably damaging |
Het |
| Ppp4r4 |
A |
G |
12: 103,559,397 (GRCm39) |
Y526C |
probably damaging |
Het |
| Prdm10 |
A |
G |
9: 31,227,557 (GRCm39) |
D54G |
probably damaging |
Het |
| Rpn2 |
C |
T |
2: 157,136,093 (GRCm39) |
T167I |
probably benign |
Het |
| Slc22a30 |
G |
T |
19: 8,364,021 (GRCm39) |
H218Q |
probably benign |
Het |
| Supt6 |
A |
G |
11: 78,113,664 (GRCm39) |
S878P |
probably benign |
Het |
| Tmem184c |
A |
T |
8: 78,323,775 (GRCm39) |
C362* |
probably null |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Wscd2 |
C |
T |
5: 113,710,357 (GRCm39) |
R294W |
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 |
|
|
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 |
|
|
R1143:Car13
|
UTSW |
3 |
14,721,328 (GRCm39) |
missense |
probably benign |
|
|
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 |
|
| Posted On |
2014-05-07 |
Incidental Mutation