Incidental Mutation 'IGL01576:Car7'
| ID |
91276 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Car7
|
| Ensembl Gene |
ENSMUSG00000031883 |
| Gene Name |
carbonic anhydrase 7 |
| Synonyms |
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01576
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
105261326-105276979 bp(+) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to A
at 105276180 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125404
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000056051]
[ENSMUST00000056051]
[ENSMUST00000159416]
[ENSMUST00000162761]
|
| AlphaFold |
Q9ERQ8 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000056051
|
| SMART Domains |
Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
7 |
262 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000056051
|
| SMART Domains |
Protein: ENSMUSP00000052136
Gene: ENSMUSG00000031883
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
7 |
262 |
7.17e-144 |
SMART |
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000159416
|
| SMART Domains |
Protein: ENSMUSP00000125112
Gene: ENSMUSG00000031883
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
1 |
206 |
1.93e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162399
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000162761
|
| SMART Domains |
Protein: ENSMUSP00000125404
Gene: ENSMUSG00000031883
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
1 |
206 |
1.93e-94 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212317
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212567
|
| 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 are a large family of zinc metalloenzymes that catalyze the reversible hydration of carbon dioxide. They participate in a variety of biological processes, including respiration, calcification, acid-base balance, bone resorption, and the formation of aqueous humor, cerebrospinal fluid, saliva, and gastric acid. They show extensive diversity in tissue distribution and in their subcellular localization. The cytosolic protein encoded by this gene is predominantly expressed in the salivary glands. Alternative splicing in the coding region results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced and atypical experimental febrile seizures with the absence of electrographic seizures and abnormal GABA-mediated receptor currents. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2ml1 |
A |
G |
6: 128,531,293 (GRCm39) |
|
probably benign |
Het |
| Ank3 |
A |
G |
10: 69,816,121 (GRCm39) |
E541G |
probably damaging |
Het |
| Arhgef5 |
A |
T |
6: 43,250,962 (GRCm39) |
D571V |
probably benign |
Het |
| Birc6 |
A |
G |
17: 74,984,365 (GRCm39) |
N4459S |
possibly damaging |
Het |
| Brsk2 |
T |
C |
7: 141,535,292 (GRCm39) |
I38T |
possibly damaging |
Het |
| Cacna2d4 |
A |
T |
6: 119,258,602 (GRCm39) |
R563* |
probably null |
Het |
| Chml |
T |
C |
1: 175,515,271 (GRCm39) |
T217A |
probably benign |
Het |
| Dnah7b |
T |
G |
1: 46,307,813 (GRCm39) |
N3042K |
probably damaging |
Het |
| Efcab2 |
T |
G |
1: 178,264,957 (GRCm39) |
|
probably benign |
Het |
| Espn |
T |
C |
4: 152,208,174 (GRCm39) |
E397G |
probably damaging |
Het |
| Fam20c |
A |
G |
5: 138,793,094 (GRCm39) |
T443A |
probably damaging |
Het |
| Fam221b |
T |
C |
4: 43,666,227 (GRCm39) |
E128G |
probably benign |
Het |
| Fat4 |
A |
G |
3: 38,943,096 (GRCm39) |
D663G |
probably damaging |
Het |
| Fndc10 |
T |
A |
4: 155,779,433 (GRCm39) |
V159D |
probably benign |
Het |
| Gm14496 |
A |
G |
2: 181,633,164 (GRCm39) |
Y49C |
possibly damaging |
Het |
| Gpr63 |
G |
T |
4: 25,008,445 (GRCm39) |
D390Y |
possibly damaging |
Het |
| Herc2 |
G |
A |
7: 55,876,409 (GRCm39) |
|
probably null |
Het |
| Igdcc3 |
A |
G |
9: 65,085,152 (GRCm39) |
T199A |
probably damaging |
Het |
| Ireb2 |
T |
C |
9: 54,799,794 (GRCm39) |
Y412H |
probably damaging |
Het |
| Lpin3 |
T |
C |
2: 160,739,047 (GRCm39) |
V285A |
probably benign |
Het |
| Mdga1 |
T |
C |
17: 30,062,101 (GRCm39) |
S443G |
possibly damaging |
Het |
| Med22 |
C |
T |
2: 26,799,004 (GRCm39) |
|
probably null |
Het |
| Or7c70 |
G |
T |
10: 78,683,207 (GRCm39) |
L181I |
possibly damaging |
Het |
| Pals2 |
G |
A |
6: 50,140,472 (GRCm39) |
R164Q |
probably benign |
Het |
| Pcnt |
T |
G |
10: 76,204,656 (GRCm39) |
D2583A |
probably damaging |
Het |
| Pkn3 |
G |
A |
2: 29,977,054 (GRCm39) |
R598Q |
probably damaging |
Het |
| Pnpla7 |
T |
C |
2: 24,906,575 (GRCm39) |
V646A |
probably damaging |
Het |
| Podxl |
A |
T |
6: 31,501,319 (GRCm39) |
V412D |
probably damaging |
Het |
| Rad51ap1 |
A |
T |
6: 126,905,123 (GRCm39) |
S129R |
probably damaging |
Het |
| Relb |
T |
C |
7: 19,346,526 (GRCm39) |
I349V |
probably benign |
Het |
| Rorb |
C |
T |
19: 18,934,698 (GRCm39) |
G224D |
probably damaging |
Het |
| Slc40a1 |
T |
A |
1: 45,948,757 (GRCm39) |
I508F |
probably damaging |
Het |
| Tanc1 |
G |
A |
2: 59,628,079 (GRCm39) |
V619M |
probably damaging |
Het |
| Tgm7 |
A |
T |
2: 120,931,514 (GRCm39) |
D216E |
probably damaging |
Het |
| Tmem132e |
A |
G |
11: 82,329,200 (GRCm39) |
D493G |
probably damaging |
Het |
| Zfp110 |
T |
A |
7: 12,583,598 (GRCm39) |
C749S |
probably damaging |
Het |
| Zscan4d |
T |
C |
7: 10,896,519 (GRCm39) |
N284D |
possibly damaging |
Het |
|
| Other mutations in Car7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02306:Car7
|
APN |
8 |
105,275,630 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02936:Car7
|
APN |
8 |
105,274,854 (GRCm39) |
missense |
possibly damaging |
0.82 |
|
IGL03125:Car7
|
APN |
8 |
105,274,851 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0409:Car7
|
UTSW |
8 |
105,275,056 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0485:Car7
|
UTSW |
8 |
105,270,170 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1981:Car7
|
UTSW |
8 |
105,275,009 (GRCm39) |
splice site |
probably benign |
|
|
R2129:Car7
|
UTSW |
8 |
105,275,605 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R6964:Car7
|
UTSW |
8 |
105,270,213 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R7483:Car7
|
UTSW |
8 |
105,276,216 (GRCm39) |
missense |
probably benign |
0.12 |
|
R7635:Car7
|
UTSW |
8 |
105,275,069 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9749:Car7
|
UTSW |
8 |
105,275,054 (GRCm39) |
missense |
probably damaging |
0.99 |
|
X0020:Car7
|
UTSW |
8 |
105,275,635 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Car7
|
UTSW |
8 |
105,275,591 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
| Posted On |
2013-12-09 |
Incidental Mutation