Incidental Mutation 'R1372:Car10'
| ID |
157374 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car10
|
| Ensembl Gene |
ENSMUSG00000056158 |
| Gene Name |
carbonic anhydrase 10 |
| Synonyms |
CA-RP X, 2700029L05Rik |
| MMRRC Submission |
039436-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.570)
|
| Stock # |
R1372 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
92988854-93492575 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 93469525 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Serine
at position 167
(T167S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103495
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000042943]
[ENSMUST00000107858]
[ENSMUST00000107863]
|
| AlphaFold |
P61215 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000042943
AA Change: T167S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000035585
Gene: ENSMUSG00000056158
AA Change: T167S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
33 |
301 |
2.25e-86 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107858
AA Change: T143S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103490
Gene: ENSMUSG00000056158
AA Change: T143S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
33 |
277 |
2.21e-71 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107863
AA Change: T167S
PolyPhen 2
Score 0.019 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000103495
Gene: ENSMUSG00000056158
AA Change: T167S
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
33 |
301 |
2.25e-86 |
SMART |
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 93.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the carbonic anhydrase family of zinc metalloenzymes, which catalyze the reversible hydration of carbon dioxide in various biological processes. The protein encoded by this gene is an acatalytic member of the alpha-carbonic anhydrase subgroup, and it is thought to play a role in the central nervous system, especially in brain development. Multiple transcript variants encoding the same protein have been found for this gene. [provided by RefSeq, Jul 2008]
|
| Allele List at MGI |
All alleles(5) : Gene trapped(5) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700030J22Rik |
T |
A |
8: 117,698,696 (GRCm39) |
Q137L |
possibly damaging |
Het |
| Abca12 |
A |
G |
1: 71,334,016 (GRCm39) |
I1162T |
probably damaging |
Het |
| Adcy2 |
T |
A |
13: 68,816,652 (GRCm39) |
N778I |
probably damaging |
Het |
| Adgre5 |
G |
A |
8: 84,454,949 (GRCm39) |
P248S |
probably damaging |
Het |
| Akap13 |
G |
A |
7: 75,259,340 (GRCm39) |
G655S |
possibly damaging |
Het |
| Ankrd28 |
A |
T |
14: 31,467,218 (GRCm39) |
M248K |
probably benign |
Het |
| Asxl3 |
T |
G |
18: 22,543,066 (GRCm39) |
S20A |
probably benign |
Het |
| Atf7ip2 |
G |
A |
16: 10,052,195 (GRCm39) |
V225I |
probably damaging |
Het |
| Cbx7 |
C |
T |
15: 79,803,074 (GRCm39) |
G160R |
probably damaging |
Het |
| Cd209d |
C |
A |
8: 3,928,515 (GRCm39) |
|
probably benign |
Het |
| Cdca4 |
G |
A |
12: 112,785,537 (GRCm39) |
Q64* |
probably null |
Het |
| Cela2a |
C |
T |
4: 141,546,405 (GRCm39) |
G178D |
probably damaging |
Het |
| Cntnap5b |
G |
A |
1: 100,091,813 (GRCm39) |
D499N |
probably benign |
Het |
| Cox7a2 |
G |
A |
9: 79,665,819 (GRCm39) |
R21* |
probably null |
Het |
| Crmp1 |
G |
A |
5: 37,446,155 (GRCm39) |
G604R |
probably benign |
Het |
| Cul9 |
C |
G |
17: 46,833,101 (GRCm39) |
A1326P |
probably damaging |
Het |
| Cxcr1 |
T |
C |
1: 74,231,161 (GRCm39) |
D287G |
probably benign |
Het |
| Cyp4a12b |
T |
C |
4: 115,290,146 (GRCm39) |
I233T |
probably benign |
Het |
| Dlg1 |
T |
C |
16: 31,631,638 (GRCm39) |
I208T |
probably damaging |
Het |
| Dsg4 |
C |
A |
18: 20,582,733 (GRCm39) |
|
probably null |
Het |
| Epha3 |
A |
G |
16: 63,431,416 (GRCm39) |
I495T |
possibly damaging |
Het |
| Hmcn1 |
A |
T |
1: 150,556,466 (GRCm39) |
M2440K |
probably benign |
Het |
| Klb |
G |
C |
5: 65,506,089 (GRCm39) |
R112P |
possibly damaging |
Het |
| Leo1 |
T |
C |
9: 75,356,751 (GRCm39) |
V377A |
possibly damaging |
Het |
| Lsg1 |
A |
G |
16: 30,383,472 (GRCm39) |
F583L |
possibly damaging |
Het |
| Mphosph9 |
A |
T |
5: 124,421,808 (GRCm39) |
|
probably null |
Het |
| Mpp3 |
A |
G |
11: 101,891,401 (GRCm39) |
V579A |
probably damaging |
Het |
| Oca2 |
T |
A |
7: 56,185,716 (GRCm39) |
M814K |
probably benign |
Het |
| Odad3 |
C |
T |
9: 21,904,916 (GRCm39) |
R290H |
probably damaging |
Het |
| Pdgfra |
A |
G |
5: 75,349,924 (GRCm39) |
E936G |
probably damaging |
Het |
| Pkd1 |
T |
C |
17: 24,794,240 (GRCm39) |
C1976R |
probably damaging |
Het |
| Plekhg5 |
G |
A |
4: 152,189,188 (GRCm39) |
R243H |
probably damaging |
Het |
| Pogz |
T |
A |
3: 94,768,199 (GRCm39) |
L126M |
probably damaging |
Het |
| Rbm15 |
G |
T |
3: 107,239,946 (GRCm39) |
R151S |
possibly damaging |
Het |
| Rec8 |
T |
C |
14: 55,856,431 (GRCm39) |
Y68H |
probably damaging |
Het |
| Rhcg |
A |
T |
7: 79,249,122 (GRCm39) |
D366E |
probably benign |
Het |
| Ryr3 |
T |
A |
2: 112,664,546 (GRCm39) |
S1582C |
probably damaging |
Het |
| Sh3pxd2a |
A |
T |
19: 47,256,160 (GRCm39) |
W853R |
probably damaging |
Het |
| Spopfm1 |
A |
G |
3: 94,173,435 (GRCm39) |
T148A |
possibly damaging |
Het |
| Tnxb |
T |
C |
17: 34,929,267 (GRCm39) |
V2770A |
possibly damaging |
Het |
| Vmn2r63 |
A |
G |
7: 42,578,642 (GRCm39) |
F84L |
possibly damaging |
Het |
|
| Other mutations in Car10 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00670:Car10
|
APN |
11 |
93,195,483 (GRCm39) |
splice site |
probably benign |
|
|
IGL01077:Car10
|
APN |
11 |
93,487,969 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
IGL01099:Car10
|
APN |
11 |
93,469,516 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
IGL02810:Car10
|
APN |
11 |
93,469,522 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03037:Car10
|
APN |
11 |
92,991,044 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03061:Car10
|
APN |
11 |
93,381,351 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03105:Car10
|
APN |
11 |
92,991,101 (GRCm39) |
missense |
probably benign |
0.07 |
|
IGL03347:Car10
|
APN |
11 |
92,991,122 (GRCm39) |
splice site |
probably benign |
|
|
IGL02837:Car10
|
UTSW |
11 |
93,488,077 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R0076:Car10
|
UTSW |
11 |
93,381,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0076:Car10
|
UTSW |
11 |
93,381,423 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R0387:Car10
|
UTSW |
11 |
93,473,847 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0511:Car10
|
UTSW |
11 |
93,381,408 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4692:Car10
|
UTSW |
11 |
93,075,984 (GRCm39) |
critical splice donor site |
probably null |
|
|
R4799:Car10
|
UTSW |
11 |
93,469,492 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R5947:Car10
|
UTSW |
11 |
93,381,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6010:Car10
|
UTSW |
11 |
93,490,149 (GRCm39) |
missense |
possibly damaging |
0.52 |
|
R6013:Car10
|
UTSW |
11 |
93,076,105 (GRCm39) |
intron |
probably benign |
|
|
R7268:Car10
|
UTSW |
11 |
93,490,077 (GRCm39) |
missense |
probably benign |
0.26 |
|
R7995:Car10
|
UTSW |
11 |
93,487,948 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9717:Car10
|
UTSW |
11 |
93,195,367 (GRCm39) |
missense |
probably benign |
0.12 |
|
Z1191:Car10
|
UTSW |
11 |
93,195,462 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AATTTCACCAAGTAAAAGCGCATCCTTC -3'
(R):5'- CAGAGACTGTAGAATGATGCTCTGGTTG -3'
Sequencing Primer
(F):5'- gggtgagggaagggagg -3'
(R):5'- CTCTGGTTGGTATTGGGGG -3'
|
| Posted On |
2014-02-18 |
Incidental Mutation