Incidental Mutation 'IGL02195:Car11'
| ID |
284041 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Car11
|
| Ensembl Gene |
ENSMUSG00000003273 |
| Gene Name |
carbonic anhydrase 11 |
| Synonyms |
CA-RP XI |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.085)
|
| Stock # |
IGL02195
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
45349267-45354106 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 45350716 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 71
(V71L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000003360
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003360]
[ENSMUST00000080885]
[ENSMUST00000211357]
[ENSMUST00000211513]
|
| AlphaFold |
O70354 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000003360
AA Change: V71L
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000003360
Gene: ENSMUSG00000003273
AA Change: V71L
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
23 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
35 |
303 |
1.1e-62 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000080885
|
| SMART Domains |
Protein: ENSMUSP00000079693
Gene: ENSMUSG00000059824
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
10 |
31 |
N/A |
INTRINSIC |
|
low complexity region
|
71 |
98 |
N/A |
INTRINSIC |
|
low complexity region
|
127 |
171 |
N/A |
INTRINSIC |
|
BRLZ
|
253 |
317 |
5.17e-8 |
SMART |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000209796
AA Change: V17L
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000210027
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000210872
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211259
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000211513
|
| 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. CA XI is likely a secreted protein, however, radical changes at active site residues completely conserved in CA isozymes with catalytic activity, make it unlikely that it has carbonic anhydrase activity. It shares properties in common with two other acatalytic CA isoforms, CA VIII and CA X. CA XI is most abundantly expressed in brain, and may play a general role in the central nervous system. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Anpep |
G |
T |
7: 79,476,433 (GRCm39) |
A65D |
probably damaging |
Het |
| Birc6 |
C |
T |
17: 75,004,376 (GRCm39) |
|
probably benign |
Het |
| Cecr2 |
A |
G |
6: 120,708,367 (GRCm39) |
Y123C |
probably damaging |
Het |
| Dnm2 |
G |
A |
9: 21,336,545 (GRCm39) |
V52M |
probably damaging |
Het |
| Fbxo21 |
T |
A |
5: 118,140,219 (GRCm39) |
C560S |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,755 (GRCm39) |
Y170F |
probably benign |
Het |
| Ighv1-54 |
A |
T |
12: 115,157,570 (GRCm39) |
S26T |
possibly damaging |
Het |
| Ints8 |
A |
T |
4: 11,221,222 (GRCm39) |
W718R |
probably damaging |
Het |
| Iqgap2 |
T |
A |
13: 95,798,242 (GRCm39) |
|
probably benign |
Het |
| Kif4 |
T |
C |
X: 99,769,822 (GRCm39) |
F1154S |
probably damaging |
Het |
| Klhl18 |
A |
G |
9: 110,267,970 (GRCm39) |
C253R |
possibly damaging |
Het |
| Lilra6 |
T |
C |
7: 3,917,549 (GRCm39) |
S149G |
probably benign |
Het |
| Lonrf1 |
G |
A |
8: 36,687,102 (GRCm39) |
R745* |
probably null |
Het |
| Manea |
A |
C |
4: 26,340,628 (GRCm39) |
Y111* |
probably null |
Het |
| Map2k1 |
A |
G |
9: 64,101,090 (GRCm39) |
I196T |
probably benign |
Het |
| Matn4 |
T |
C |
2: 164,242,972 (GRCm39) |
D42G |
probably damaging |
Het |
| Meioc |
C |
A |
11: 102,565,683 (GRCm39) |
T433K |
possibly damaging |
Het |
| Mtmr7 |
A |
G |
8: 41,013,946 (GRCm39) |
V204A |
probably damaging |
Het |
| Nus1 |
A |
G |
10: 52,309,465 (GRCm39) |
D91G |
probably damaging |
Het |
| Or8a1b |
A |
G |
9: 37,623,417 (GRCm39) |
S53P |
probably benign |
Het |
| Pisd |
A |
G |
5: 32,894,659 (GRCm39) |
L549P |
probably damaging |
Het |
| Plcg1 |
T |
C |
2: 160,595,846 (GRCm39) |
Y572H |
possibly damaging |
Het |
| Prdm15 |
A |
G |
16: 97,637,029 (GRCm39) |
V96A |
probably damaging |
Het |
| Prune2 |
C |
A |
19: 17,096,921 (GRCm39) |
D808E |
probably benign |
Het |
| Sema5b |
G |
A |
16: 35,480,849 (GRCm39) |
|
probably null |
Het |
| Shank3 |
A |
T |
15: 89,432,321 (GRCm39) |
Q947L |
probably damaging |
Het |
| Sned1 |
A |
G |
1: 93,201,882 (GRCm39) |
E616G |
probably benign |
Het |
| Snx18 |
T |
C |
13: 113,753,376 (GRCm39) |
H519R |
probably damaging |
Het |
| Spring1 |
T |
C |
5: 118,397,462 (GRCm39) |
L148P |
probably damaging |
Het |
| Syde2 |
A |
G |
3: 145,707,911 (GRCm39) |
T617A |
probably damaging |
Het |
| Tmem139 |
G |
T |
6: 42,240,901 (GRCm39) |
R162L |
probably damaging |
Het |
| Trim72 |
A |
T |
7: 127,607,136 (GRCm39) |
M222L |
probably damaging |
Het |
|
| Other mutations in Car11 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL03189:Car11
|
APN |
7 |
45,351,879 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1201:Car11
|
UTSW |
7 |
45,352,904 (GRCm39) |
missense |
probably benign |
|
|
R1625:Car11
|
UTSW |
7 |
45,350,731 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1670:Car11
|
UTSW |
7 |
45,352,949 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R2430:Car11
|
UTSW |
7 |
45,353,072 (GRCm39) |
splice site |
probably null |
|
|
R2509:Car11
|
UTSW |
7 |
45,350,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2510:Car11
|
UTSW |
7 |
45,350,783 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R2680:Car11
|
UTSW |
7 |
45,351,909 (GRCm39) |
missense |
probably benign |
|
|
R3926:Car11
|
UTSW |
7 |
45,349,915 (GRCm39) |
missense |
probably benign |
0.17 |
|
R5511:Car11
|
UTSW |
7 |
45,349,885 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5639:Car11
|
UTSW |
7 |
45,352,045 (GRCm39) |
critical splice donor site |
probably null |
|
|
R7395:Car11
|
UTSW |
7 |
45,350,745 (GRCm39) |
nonsense |
probably null |
|
|
R7490:Car11
|
UTSW |
7 |
45,349,742 (GRCm39) |
missense |
probably benign |
0.03 |
|
| Posted On |
2015-04-16 |
Incidental Mutation