Incidental Mutation 'IGL01361:Car15'
| ID |
75745 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Car15
|
| Ensembl Gene |
ENSMUSG00000090236 |
| Gene Name |
carbonic anhydrase 15 |
| Synonyms |
Cals2 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.050)
|
| Stock # |
IGL01361
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17653140-17656050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17655718 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 27
(Y27C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000066127]
[ENSMUST00000117082]
[ENSMUST00000117945]
[ENSMUST00000118960]
[ENSMUST00000150068]
[ENSMUST00000155943]
|
| AlphaFold |
Q99N23 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000012152
|
| SMART Domains |
Protein: ENSMUSP00000012152
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000066127
|
| SMART Domains |
Protein: ENSMUSP00000064603
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
transmembrane domain
|
274 |
296 |
N/A |
INTRINSIC |
|
low complexity region
|
298 |
306 |
N/A |
INTRINSIC |
|
low complexity region
|
367 |
378 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117082
|
| SMART Domains |
Protein: ENSMUSP00000113506
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
5.86e-11 |
SMART |
|
CLECT
|
113 |
264 |
1.06e-14 |
SMART |
|
VWC
|
269 |
330 |
1.42e-9 |
SMART |
|
transmembrane domain
|
344 |
366 |
N/A |
INTRINSIC |
|
low complexity region
|
368 |
376 |
N/A |
INTRINSIC |
|
low complexity region
|
437 |
448 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000117945
|
| SMART Domains |
Protein: ENSMUSP00000112783
Gene: ENSMUSG00000003166
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
111 |
262 |
1.06e-14 |
SMART |
|
VWC
|
267 |
328 |
1.42e-9 |
SMART |
|
transmembrane domain
|
342 |
364 |
N/A |
INTRINSIC |
|
low complexity region
|
366 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
435 |
446 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000118960
AA Change: Y27C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: Y27C
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
Carb_anhydrase
|
25 |
293 |
2.31e-106 |
SMART |
|
low complexity region
|
307 |
320 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135229
|
| Predicted Effect |
silent
Transcript: ENSMUST00000150068
|
| SMART Domains |
Protein: ENSMUSP00000115071
Gene: ENSMUSG00000092470
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
21 |
N/A |
INTRINSIC |
|
LDLa
|
29 |
68 |
6.28e-11 |
SMART |
|
CLECT
|
114 |
265 |
1.06e-14 |
SMART |
|
VWC
|
270 |
331 |
1.42e-9 |
SMART |
|
transmembrane domain
|
345 |
367 |
N/A |
INTRINSIC |
|
low complexity region
|
369 |
377 |
N/A |
INTRINSIC |
|
low complexity region
|
438 |
449 |
N/A |
INTRINSIC |
|
low complexity region
|
559 |
565 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231306
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155943
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232529
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd36 |
T |
A |
11: 5,546,706 (GRCm39) |
|
probably benign |
Het |
| C1qtnf3 |
G |
A |
15: 10,960,768 (GRCm39) |
G157D |
probably damaging |
Het |
| Cacna1b |
T |
C |
2: 24,569,107 (GRCm39) |
E940G |
possibly damaging |
Het |
| Camta1 |
A |
G |
4: 151,229,149 (GRCm39) |
L561P |
probably damaging |
Het |
| Catsper1 |
G |
T |
19: 5,389,507 (GRCm39) |
S474I |
probably damaging |
Het |
| Cps1 |
A |
G |
1: 67,234,304 (GRCm39) |
D897G |
probably benign |
Het |
| Crtc1 |
A |
G |
8: 70,840,253 (GRCm39) |
L540P |
probably damaging |
Het |
| Fdps |
A |
G |
3: 89,001,749 (GRCm39) |
|
probably benign |
Het |
| Gprc6a |
A |
G |
10: 51,491,526 (GRCm39) |
I741T |
probably damaging |
Het |
| Hdac7 |
A |
C |
15: 97,709,323 (GRCm39) |
M47R |
possibly damaging |
Het |
| Kalrn |
T |
C |
16: 33,996,092 (GRCm39) |
|
probably benign |
Het |
| Kat14 |
C |
A |
2: 144,248,540 (GRCm39) |
|
probably null |
Het |
| Kcnu1 |
T |
C |
8: 26,376,796 (GRCm39) |
V390A |
possibly damaging |
Het |
| Kdm5a |
T |
A |
6: 120,375,977 (GRCm39) |
Y578N |
probably damaging |
Het |
| Lrp1b |
T |
C |
2: 41,000,763 (GRCm39) |
|
probably benign |
Het |
| Mpc2 |
G |
T |
1: 165,307,092 (GRCm39) |
A98S |
probably benign |
Het |
| Nek10 |
T |
C |
14: 14,850,957 (GRCm38) |
I334T |
probably damaging |
Het |
| Nufip2 |
T |
A |
11: 77,583,196 (GRCm39) |
V370E |
possibly damaging |
Het |
| Nup160 |
C |
A |
2: 90,514,356 (GRCm39) |
Y101* |
probably null |
Het |
| Obscn |
T |
A |
11: 58,919,715 (GRCm39) |
Y6174F |
probably damaging |
Het |
| Omp |
A |
T |
7: 97,794,489 (GRCm39) |
I46N |
probably benign |
Het |
| Pcbp4 |
A |
T |
9: 106,340,448 (GRCm39) |
|
probably null |
Het |
| Pctp |
A |
G |
11: 89,879,552 (GRCm39) |
V103A |
probably damaging |
Het |
| Pla2r1 |
A |
G |
2: 60,309,814 (GRCm39) |
Y590H |
probably damaging |
Het |
| Ppfibp2 |
T |
C |
7: 107,343,508 (GRCm39) |
|
probably null |
Het |
| Reln |
G |
A |
5: 22,124,019 (GRCm39) |
T2829M |
probably benign |
Het |
| Sh3yl1 |
T |
A |
12: 30,989,563 (GRCm39) |
|
probably benign |
Het |
| Sipa1l3 |
A |
T |
7: 29,048,112 (GRCm39) |
Y210N |
probably damaging |
Het |
| Slc33a1 |
C |
A |
3: 63,850,833 (GRCm39) |
C497F |
probably damaging |
Het |
| Srp9 |
G |
A |
1: 181,958,902 (GRCm39) |
C25Y |
probably damaging |
Het |
| Traf4 |
C |
A |
11: 78,056,226 (GRCm39) |
R14L |
possibly damaging |
Het |
| Tut7 |
A |
T |
13: 59,933,614 (GRCm39) |
I894K |
probably damaging |
Het |
| Usf3 |
C |
A |
16: 44,033,000 (GRCm39) |
|
probably null |
Het |
| Vmn2r85 |
T |
C |
10: 130,254,690 (GRCm39) |
T665A |
probably benign |
Het |
| Vps13a |
C |
T |
19: 16,720,371 (GRCm39) |
A405T |
probably damaging |
Het |
| Zan |
A |
T |
5: 137,412,604 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Car15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00822:Car15
|
APN |
16 |
17,654,498 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01292:Car15
|
APN |
16 |
17,653,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03061:Car15
|
APN |
16 |
17,653,249 (GRCm39) |
missense |
possibly damaging |
0.59 |
|
R0383:Car15
|
UTSW |
16 |
17,654,617 (GRCm39) |
nonsense |
probably null |
|
|
R0544:Car15
|
UTSW |
16 |
17,653,680 (GRCm39) |
splice site |
probably benign |
|
|
R1771:Car15
|
UTSW |
16 |
17,654,730 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1951:Car15
|
UTSW |
16 |
17,655,269 (GRCm39) |
missense |
possibly damaging |
0.47 |
|
R2318:Car15
|
UTSW |
16 |
17,654,463 (GRCm39) |
missense |
probably benign |
0.02 |
|
R2910:Car15
|
UTSW |
16 |
17,656,006 (GRCm39) |
unclassified |
probably benign |
|
|
R4370:Car15
|
UTSW |
16 |
17,653,299 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4843:Car15
|
UTSW |
16 |
17,654,472 (GRCm39) |
missense |
possibly damaging |
0.60 |
|
R5110:Car15
|
UTSW |
16 |
17,653,211 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6251:Car15
|
UTSW |
16 |
17,655,227 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6360:Car15
|
UTSW |
16 |
17,655,930 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6699:Car15
|
UTSW |
16 |
17,654,438 (GRCm39) |
missense |
probably null |
0.43 |
|
R7127:Car15
|
UTSW |
16 |
17,656,060 (GRCm39) |
unclassified |
probably benign |
|
|
R7567:Car15
|
UTSW |
16 |
17,654,652 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8289:Car15
|
UTSW |
16 |
17,654,580 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8543:Car15
|
UTSW |
16 |
17,654,713 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9252:Car15
|
UTSW |
16 |
17,653,246 (GRCm39) |
nonsense |
probably null |
|
|
X0026:Car15
|
UTSW |
16 |
17,653,396 (GRCm39) |
missense |
probably benign |
0.09 |
|
| Posted On |
2013-10-07 |
Incidental Mutation