Incidental Mutation 'R4370:Car15'
| ID |
325971 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Car15
|
| Ensembl Gene |
ENSMUSG00000090236 |
| Gene Name |
carbonic anhydrase 15 |
| Synonyms |
Cals2 |
| MMRRC Submission |
041674-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.049)
|
| Stock # |
R4370 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
16 |
| Chromosomal Location |
17653140-17656050 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 17653299 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Methionine
at position 289
(I289M)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000113400
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000012152]
[ENSMUST00000066127]
[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: 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: I289M
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000113400
Gene: ENSMUSG00000090236
AA Change: I289M
| 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: ENSMUST00000231865
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232529
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000231909
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000232516
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acoxl |
T |
A |
2: 127,720,708 (GRCm39) |
D190E |
possibly damaging |
Het |
| Alg11 |
C |
A |
8: 22,558,095 (GRCm39) |
A469E |
probably benign |
Het |
| Armc2 |
A |
T |
10: 41,793,196 (GRCm39) |
N809K |
probably benign |
Het |
| B4galt3 |
C |
A |
1: 171,101,613 (GRCm39) |
H196N |
probably damaging |
Het |
| Bmal2 |
A |
T |
6: 146,711,149 (GRCm39) |
E51V |
probably damaging |
Het |
| Cage1 |
G |
A |
13: 38,209,626 (GRCm39) |
S11F |
probably damaging |
Het |
| Cdhr18 |
C |
T |
14: 13,862,375 (GRCm38) |
S393N |
probably benign |
Het |
| Cfap100 |
A |
T |
6: 90,390,376 (GRCm39) |
I242N |
probably damaging |
Het |
| Dst |
GAA |
GA |
1: 34,290,809 (GRCm39) |
|
probably null |
Het |
| Epdr1 |
C |
A |
13: 19,803,576 (GRCm39) |
V53F |
probably benign |
Het |
| Igfn1 |
A |
G |
1: 135,895,844 (GRCm39) |
M1574T |
probably benign |
Het |
| Kat6a |
T |
C |
8: 23,401,945 (GRCm39) |
I438T |
possibly damaging |
Het |
| Kcnd3 |
C |
T |
3: 105,566,082 (GRCm39) |
A421V |
probably damaging |
Het |
| Krtap4-7 |
G |
A |
11: 99,534,543 (GRCm39) |
P107S |
unknown |
Het |
| Lrp6 |
A |
C |
6: 134,483,321 (GRCm39) |
Y461* |
probably null |
Het |
| Mecom |
T |
A |
3: 30,011,504 (GRCm39) |
E723V |
probably damaging |
Het |
| Nsd3 |
T |
A |
8: 26,138,524 (GRCm39) |
I258N |
probably benign |
Het |
| Or10q12 |
T |
C |
19: 13,746,315 (GRCm39) |
V203A |
probably benign |
Het |
| Or5k8 |
T |
A |
16: 58,644,956 (GRCm39) |
M39L |
probably benign |
Het |
| Or8k32 |
A |
T |
2: 86,368,764 (GRCm39) |
I165N |
possibly damaging |
Het |
| Rb1cc1 |
A |
G |
1: 6,318,771 (GRCm39) |
D730G |
probably damaging |
Het |
| Sacs |
A |
G |
14: 61,449,758 (GRCm39) |
R3935G |
probably damaging |
Het |
| Setd5 |
A |
G |
6: 113,098,766 (GRCm39) |
K800E |
probably damaging |
Het |
| Slc26a4 |
G |
T |
12: 31,579,475 (GRCm39) |
Q596K |
probably benign |
Het |
| Slc38a4 |
T |
A |
15: 96,906,965 (GRCm39) |
N258Y |
possibly damaging |
Het |
| Sntb1 |
A |
G |
15: 55,655,487 (GRCm39) |
I243T |
probably damaging |
Het |
| Sspo |
A |
G |
6: 48,443,282 (GRCm39) |
S2051G |
probably null |
Het |
| Sys1 |
T |
C |
2: 164,303,315 (GRCm39) |
W10R |
probably damaging |
Het |
| Tgm2 |
G |
A |
2: 157,966,221 (GRCm39) |
R478* |
probably null |
Het |
| Tgm6 |
T |
C |
2: 129,985,525 (GRCm39) |
Y443H |
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,648,870 (GRCm39) |
D113E |
probably benign |
Het |
| Trio |
C |
A |
15: 27,748,423 (GRCm39) |
E1266* |
probably null |
Het |
| Usp40 |
T |
C |
1: 87,925,597 (GRCm39) |
I211V |
probably benign |
Het |
| Zfp791 |
C |
T |
8: 85,840,235 (GRCm39) |
V11M |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TAGGCCAAGGTCACTATGCAC -3'
(R):5'- TTGAAAACACCGTACCCATTGG -3'
Sequencing Primer
(F):5'- CAAGGTCACTATGCACGATTTATTGG -3'
(R):5'- TGGGAGTCACTGCCATTCC -3'
|
| Posted On |
2015-07-06 |
Incidental Mutation