Incidental Mutation 'IGL01121:Car4'
| ID |
52337 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Car4
|
| Ensembl Gene |
ENSMUSG00000000805 |
| Gene Name |
carbonic anhydrase 4 |
| Synonyms |
CA IV |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.102)
|
| Stock # |
IGL01121
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
84848612-84856870 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to T
at 84855172 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099483
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000103194]
[ENSMUST00000127827]
[ENSMUST00000150596]
|
| AlphaFold |
Q64444 |
| PDB Structure |
MURINE CARBONIC ANHYDRASE IV [X-RAY DIFFRACTION]
MURINE CARBONIC ANHYDRASE IV COMPLEXED WITH BRINZOLAMIDE [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000103194
|
| SMART Domains |
Protein: ENSMUSP00000099483
Gene: ENSMUSG00000000805
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
22 |
278 |
2.37e-103 |
SMART |
|
low complexity region
|
283 |
299 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000108076
|
| SMART Domains |
Protein: ENSMUSP00000103711
Gene: ENSMUSG00000000805
| Domain | Start | End | E-Value | Type |
|---|
|
Carb_anhydrase
|
3 |
137 |
9.49e-7 |
SMART |
|
low complexity region
|
142 |
158 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000127827
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138331
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139416
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150596
|
| 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 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. This gene encodes a glycosylphosphatidyl-inositol-anchored membrane isozyme expressed on the luminal surfaces of pulmonary (and certain other) capillaries and proximal renal tubules. Its exact function is not known; however, it may have a role in inherited renal abnormalities of bicarbonate transport. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous null mice are produced in lower than expected numbers, with females preferentially lost in the fetal or early postnatal period. Surviving homozygotes are healthy and fertile when crossed with wild-type partners; however, homozygous intercrosses yield small litters and pups do not survive. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2700046A07Rik |
G |
A |
18: 62,888,219 (GRCm39) |
|
noncoding transcript |
Het |
| 4930432E11Rik |
A |
T |
7: 29,273,426 (GRCm39) |
|
noncoding transcript |
Het |
| Alg3 |
T |
C |
16: 20,429,397 (GRCm39) |
E31G |
probably damaging |
Het |
| Arhgap29 |
A |
G |
3: 121,803,512 (GRCm39) |
E764G |
probably damaging |
Het |
| Atp5mf |
C |
A |
5: 145,121,378 (GRCm39) |
V68L |
probably benign |
Het |
| Birc6 |
T |
A |
17: 74,938,033 (GRCm39) |
I2645K |
probably benign |
Het |
| Capn11 |
A |
G |
17: 45,950,058 (GRCm39) |
S369P |
probably benign |
Het |
| Ccdc185 |
C |
T |
1: 182,576,222 (GRCm39) |
V156I |
probably benign |
Het |
| Cpsf2 |
G |
T |
12: 101,954,965 (GRCm39) |
E245D |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,014,430 (GRCm39) |
D2019G |
probably benign |
Het |
| Dscc1 |
A |
G |
15: 54,945,721 (GRCm39) |
|
probably benign |
Het |
| Dzip3 |
T |
C |
16: 48,765,244 (GRCm39) |
D490G |
probably benign |
Het |
| E2f8 |
G |
A |
7: 48,517,569 (GRCm39) |
Q745* |
probably null |
Het |
| Fat3 |
T |
A |
9: 15,909,697 (GRCm39) |
T2102S |
probably benign |
Het |
| Fgf7 |
C |
T |
2: 125,930,152 (GRCm39) |
|
probably benign |
Het |
| Fstl4 |
T |
C |
11: 52,705,464 (GRCm39) |
F47L |
probably benign |
Het |
| Gm15097 |
A |
T |
X: 148,587,324 (GRCm39) |
R129S |
possibly damaging |
Het |
| Gm4297 |
C |
T |
X: 24,418,854 (GRCm39) |
D200N |
probably benign |
Het |
| Itgb5 |
G |
T |
16: 33,740,359 (GRCm39) |
D490Y |
probably benign |
Het |
| Kansl1 |
A |
G |
11: 104,226,422 (GRCm39) |
S912P |
probably benign |
Het |
| Kcnq3 |
A |
T |
15: 65,877,826 (GRCm39) |
|
probably benign |
Het |
| Kctd6 |
A |
G |
14: 8,222,656 (GRCm38) |
H166R |
possibly damaging |
Het |
| Kel |
T |
C |
6: 41,679,343 (GRCm39) |
D140G |
probably benign |
Het |
| Lrif1 |
C |
A |
3: 106,642,980 (GRCm39) |
S177* |
probably null |
Het |
| Lrp1 |
A |
T |
10: 127,419,722 (GRCm39) |
C962* |
probably null |
Het |
| Lypd5 |
A |
T |
7: 24,050,976 (GRCm39) |
Y29F |
probably benign |
Het |
| Mmrn1 |
A |
G |
6: 60,952,928 (GRCm39) |
D403G |
possibly damaging |
Het |
| Nhsl1 |
T |
G |
10: 18,387,458 (GRCm39) |
V244G |
probably damaging |
Het |
| Or6c35 |
T |
C |
10: 129,168,804 (GRCm39) |
I18T |
probably benign |
Het |
| Ptprd |
A |
T |
4: 75,872,438 (GRCm39) |
|
probably benign |
Het |
| Rcan2 |
A |
T |
17: 44,328,775 (GRCm39) |
I69L |
probably damaging |
Het |
| Rprd2 |
A |
G |
3: 95,683,862 (GRCm39) |
L373P |
probably damaging |
Het |
| Slc10a4 |
T |
C |
5: 73,164,929 (GRCm39) |
C174R |
probably damaging |
Het |
| Tas2r134 |
C |
T |
2: 51,518,001 (GRCm39) |
T160I |
probably damaging |
Het |
| Tbc1d19 |
T |
A |
5: 54,054,404 (GRCm39) |
L464* |
probably null |
Het |
| Tmem45a2 |
C |
T |
16: 56,861,153 (GRCm39) |
D225N |
possibly damaging |
Het |
| Unc79 |
G |
A |
12: 103,131,890 (GRCm39) |
C2139Y |
probably damaging |
Het |
| Vmn2r101 |
G |
T |
17: 19,809,936 (GRCm39) |
G241C |
probably damaging |
Het |
| Vmn2r91 |
T |
C |
17: 18,356,766 (GRCm39) |
V811A |
possibly damaging |
Het |
| Wdr11 |
T |
C |
7: 129,229,746 (GRCm39) |
Y844H |
probably benign |
Het |
| Wdr70 |
T |
C |
15: 7,902,655 (GRCm39) |
K656E |
possibly damaging |
Het |
| Zfp579 |
C |
A |
7: 4,996,246 (GRCm39) |
C555F |
possibly damaging |
Het |
|
| Other mutations in Car4 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00091:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01828:Car4
|
APN |
11 |
84,855,571 (GRCm39) |
missense |
probably benign |
0.19 |
|
IGL02340:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02351:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02353:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02358:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02360:Car4
|
APN |
11 |
84,856,593 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4802001:Car4
|
UTSW |
11 |
84,855,231 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0008:Car4
|
UTSW |
11 |
84,854,237 (GRCm39) |
unclassified |
probably benign |
|
|
R0501:Car4
|
UTSW |
11 |
84,854,268 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2124:Car4
|
UTSW |
11 |
84,854,911 (GRCm39) |
splice site |
probably benign |
|
|
R3907:Car4
|
UTSW |
11 |
84,855,183 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5072:Car4
|
UTSW |
11 |
84,854,193 (GRCm39) |
missense |
probably benign |
|
|
R5268:Car4
|
UTSW |
11 |
84,856,626 (GRCm39) |
missense |
probably benign |
0.28 |
|
R5562:Car4
|
UTSW |
11 |
84,854,924 (GRCm39) |
missense |
probably benign |
0.05 |
|
R6508:Car4
|
UTSW |
11 |
84,856,469 (GRCm39) |
missense |
possibly damaging |
0.64 |
|
R7775:Car4
|
UTSW |
11 |
84,856,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8698:Car4
|
UTSW |
11 |
84,855,009 (GRCm39) |
missense |
probably benign |
0.20 |
|
R8956:Car4
|
UTSW |
11 |
84,855,377 (GRCm39) |
missense |
probably null |
1.00 |
|
R9334:Car4
|
UTSW |
11 |
84,855,415 (GRCm39) |
missense |
probably benign |
0.01 |
|
Z1177:Car4
|
UTSW |
11 |
84,854,245 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
| Posted On |
2013-06-21 |
Incidental Mutation