Incidental Mutation 'IGL00822:Car15'
| ID |
9378 |
| 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: 0.049)
|
| Stock # |
IGL00822
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
16 |
| Chromosomal Location |
17653140-17656050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 17654498 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 146
(M146K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000066127]
[ENSMUST00000117082]
[ENSMUST00000117945]
[ENSMUST00000118960]
[ENSMUST00000150068]
|
| 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: M146K
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: M146K
| 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 |
probably benign
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: ENSMUST00000232516
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231865
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadat |
T |
C |
8: 60,988,792 (GRCm39) |
S332P |
probably benign |
Het |
| Abcb4 |
T |
C |
5: 9,000,046 (GRCm39) |
F1005L |
probably benign |
Het |
| Actr2 |
G |
A |
11: 20,044,367 (GRCm39) |
R80W |
probably damaging |
Het |
| Adck1 |
T |
C |
12: 88,422,286 (GRCm39) |
I299T |
probably damaging |
Het |
| Camk2g |
C |
T |
14: 20,787,398 (GRCm39) |
G500S |
probably damaging |
Het |
| Cyp4f39 |
A |
G |
17: 32,689,806 (GRCm39) |
N84S |
probably benign |
Het |
| Dock8 |
G |
T |
19: 25,165,773 (GRCm39) |
E1886* |
probably null |
Het |
| Kansl2 |
T |
C |
15: 98,426,734 (GRCm39) |
|
probably benign |
Het |
| Klc2 |
A |
T |
19: 5,161,541 (GRCm39) |
V323E |
probably damaging |
Het |
| Lrrc7 |
A |
G |
3: 157,891,111 (GRCm39) |
V352A |
probably damaging |
Het |
| Lrrc8c |
G |
T |
5: 105,756,174 (GRCm39) |
A650S |
probably benign |
Het |
| Ltbp1 |
A |
G |
17: 75,458,316 (GRCm39) |
Y299C |
probably damaging |
Het |
| Myh13 |
A |
G |
11: 67,252,154 (GRCm39) |
T1421A |
probably damaging |
Het |
| Myl3 |
C |
A |
9: 110,595,557 (GRCm39) |
T56K |
possibly damaging |
Het |
| Nod1 |
T |
C |
6: 54,921,931 (GRCm39) |
Y129C |
probably damaging |
Het |
| Odad2 |
A |
T |
18: 7,181,817 (GRCm39) |
L836M |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,945,304 (GRCm39) |
S2187N |
probably benign |
Het |
| Pank4 |
G |
A |
4: 155,065,059 (GRCm39) |
R786H |
possibly damaging |
Het |
| Sag |
A |
G |
1: 87,772,748 (GRCm39) |
|
probably null |
Het |
| Scn2b |
G |
A |
9: 45,036,842 (GRCm39) |
V117M |
probably damaging |
Het |
| Sec16b |
G |
T |
1: 157,392,125 (GRCm39) |
A886S |
probably benign |
Het |
| Slit2 |
G |
A |
5: 48,146,493 (GRCm39) |
E95K |
possibly damaging |
Het |
| Spns3 |
A |
T |
11: 72,390,179 (GRCm39) |
|
probably null |
Het |
| Styk1 |
T |
C |
6: 131,278,625 (GRCm39) |
K350E |
possibly damaging |
Het |
| Tns3 |
G |
A |
11: 8,393,976 (GRCm39) |
T1291I |
probably damaging |
Het |
| Xntrpc |
A |
G |
7: 101,733,575 (GRCm39) |
I175V |
probably damaging |
Het |
| Zfp106 |
G |
A |
2: 120,344,641 (GRCm39) |
R1745C |
probably damaging |
Het |
|
| Other mutations in Car15 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01292:Car15
|
APN |
16 |
17,653,393 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01361:Car15
|
APN |
16 |
17,655,718 (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 |
2012-12-06 |
Incidental Mutation