Incidental Mutation 'R0987:Car6'
| ID |
97268 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car6
|
| Ensembl Gene |
ENSMUSG00000028972 |
| Gene Name |
carbonic anhydrase 6 |
| Synonyms |
DOC1 |
| MMRRC Submission |
039107-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0987 (G1)
|
| Quality Score |
189 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
150271472-150285592 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 150281800 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 71
(I71T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000101308
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030817]
[ENSMUST00000105683]
|
| AlphaFold |
P18761 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000030817
AA Change: I127T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000030817
Gene: ENSMUSG00000028972
AA Change: I127T
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
17 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
21 |
277 |
4.31e-106 |
SMART |
|
low complexity region
|
295 |
309 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000105683
AA Change: I71T
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000101308
Gene: ENSMUSG00000028972
AA Change: I71T
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
1 |
221 |
3.55e-75 |
SMART |
|
low complexity region
|
239 |
253 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126449
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000134648
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 87.4%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is one of several isozymes of carbonic anhydrase. This protein is found only in salivary glands and saliva and protein may play a role in the reversible hydratation of carbon dioxide though its function in saliva is unknown. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit increase in the number of lymphoid follicles in Peyer's patches. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4fm1 |
T |
A |
4: 144,246,502 (GRCm39) |
V16D |
possibly damaging |
Het |
| Cacng6 |
C |
T |
7: 3,479,020 (GRCm39) |
T133I |
probably damaging |
Het |
| Crem |
A |
T |
18: 3,288,060 (GRCm39) |
S178T |
probably damaging |
Het |
| Fam120a |
G |
T |
13: 49,039,219 (GRCm39) |
A979E |
possibly damaging |
Het |
| Fcgbp |
G |
T |
7: 27,793,599 (GRCm39) |
C1167F |
probably damaging |
Het |
| Glipr1l1 |
A |
G |
10: 111,914,340 (GRCm39) |
S234G |
probably benign |
Het |
| Igsf9b |
T |
C |
9: 27,243,849 (GRCm39) |
|
probably null |
Het |
| Kif26b |
T |
C |
1: 178,649,185 (GRCm39) |
L435P |
probably damaging |
Het |
| Kirrel2 |
T |
C |
7: 30,147,555 (GRCm39) |
T698A |
probably damaging |
Het |
| Lrrc9 |
T |
C |
12: 72,557,156 (GRCm39) |
V1407A |
probably benign |
Het |
| Mau2 |
T |
C |
8: 70,480,348 (GRCm39) |
D275G |
probably damaging |
Het |
| Mib2 |
C |
T |
4: 155,743,917 (GRCm39) |
G42S |
probably damaging |
Het |
| Notch2 |
T |
C |
3: 98,041,993 (GRCm39) |
|
probably null |
Het |
| Nr0b2 |
G |
A |
4: 133,283,503 (GRCm39) |
V247I |
probably benign |
Het |
| Or4c11 |
A |
T |
2: 88,695,527 (GRCm39) |
I193L |
probably benign |
Het |
| Or5l13 |
G |
A |
2: 87,779,891 (GRCm39) |
R229C |
probably benign |
Het |
| Or8k28 |
A |
T |
2: 86,285,891 (GRCm39) |
C241* |
probably null |
Het |
| Pigf |
A |
G |
17: 87,304,973 (GRCm39) |
L190P |
probably damaging |
Het |
| Rasef |
A |
T |
4: 73,652,721 (GRCm39) |
C593* |
probably null |
Het |
| Tex15 |
T |
G |
8: 34,066,875 (GRCm39) |
W2102G |
probably damaging |
Het |
| Tmbim1 |
T |
C |
1: 74,333,083 (GRCm39) |
|
probably null |
Het |
| Tmem183a |
A |
T |
1: 134,280,109 (GRCm39) |
F257Y |
probably damaging |
Het |
| Zbtb11 |
A |
G |
16: 55,811,071 (GRCm39) |
T410A |
probably benign |
Het |
| Zzef1 |
TGCGTGGGAACCCGC |
TGC |
11: 72,792,159 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Car6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01634:Car6
|
APN |
4 |
150,282,610 (GRCm39) |
missense |
probably benign |
0.38 |
|
IGL02483:Car6
|
APN |
4 |
150,280,586 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03267:Car6
|
APN |
4 |
150,280,503 (GRCm39) |
splice site |
probably benign |
|
|
R0226:Car6
|
UTSW |
4 |
150,271,965 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1569:Car6
|
UTSW |
4 |
150,285,499 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1627:Car6
|
UTSW |
4 |
150,277,035 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2080:Car6
|
UTSW |
4 |
150,282,598 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4812:Car6
|
UTSW |
4 |
150,281,872 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R5902:Car6
|
UTSW |
4 |
150,271,956 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
R5929:Car6
|
UTSW |
4 |
150,280,592 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6924:Car6
|
UTSW |
4 |
150,273,713 (GRCm39) |
splice site |
probably null |
|
|
R9088:Car6
|
UTSW |
4 |
150,281,806 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGATGGAAACACAAGGGTGACTGAAC -3'
(R):5'- GGAAATCTGAGTCTCCCTGTGCTG -3'
Sequencing Primer
(F):5'- tgagacaatggcaggcaatag -3'
(R):5'- GAGTCTCCCTGTGCTGTGTTC -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation