Incidental Mutation 'IGL02899:Inhca'
ID |
363528 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Inhca
|
Ensembl Gene |
ENSMUSG00000033688 |
Gene Name |
inhibitor of carbonic anhydrase |
Synonyms |
mICA, 1300017J02Rik |
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
IGL02899
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
103127722-103165496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 103154773 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Leucine
at position 173
(V173L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035163]
[ENSMUST00000123530]
[ENSMUST00000142540]
|
AlphaFold |
Q9DBD0 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000035163
AA Change: V173L
PolyPhen 2
Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000035163 Gene: ENSMUSG00000033688 AA Change: V173L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
TR_FER
|
25 |
352 |
5.48e-163 |
SMART |
TR_FER
|
355 |
697 |
3.26e-179 |
SMART |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000123530
AA Change: V173L
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000115867 Gene: ENSMUSG00000033688 AA Change: V173L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
19 |
N/A |
INTRINSIC |
TR_FER
|
25 |
351 |
3.67e-164 |
SMART |
TR_FER
|
352 |
619 |
5.89e-104 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000142540
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150524
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arfgef2 |
A |
G |
2: 166,710,971 (GRCm39) |
|
probably benign |
Het |
Btbd7 |
A |
G |
12: 102,803,921 (GRCm39) |
L373P |
probably damaging |
Het |
Capn3 |
A |
G |
2: 120,322,382 (GRCm39) |
N414S |
possibly damaging |
Het |
Ccdc186 |
A |
T |
19: 56,781,920 (GRCm39) |
I753N |
probably benign |
Het |
Ccser2 |
G |
A |
14: 36,662,716 (GRCm39) |
T156I |
probably benign |
Het |
Celsr1 |
A |
G |
15: 85,915,927 (GRCm39) |
M682T |
probably damaging |
Het |
Cep97 |
C |
A |
16: 55,738,903 (GRCm39) |
S267I |
probably damaging |
Het |
Dhx35 |
A |
G |
2: 158,643,370 (GRCm39) |
Y39C |
probably damaging |
Het |
Dscam |
A |
T |
16: 96,510,447 (GRCm39) |
D937E |
probably damaging |
Het |
Elmod2 |
A |
G |
8: 84,043,562 (GRCm39) |
Y202H |
probably damaging |
Het |
Fyco1 |
T |
C |
9: 123,659,396 (GRCm39) |
N260S |
possibly damaging |
Het |
Gm5591 |
A |
G |
7: 38,218,842 (GRCm39) |
L677P |
probably damaging |
Het |
Gmppa |
A |
G |
1: 75,418,474 (GRCm39) |
|
probably null |
Het |
Hltf |
C |
T |
3: 20,153,981 (GRCm39) |
T639I |
probably damaging |
Het |
Kpnb1 |
T |
C |
11: 97,066,612 (GRCm39) |
Y321C |
probably damaging |
Het |
Lgr4 |
G |
A |
2: 109,748,598 (GRCm39) |
G45R |
probably damaging |
Het |
Ltn1 |
T |
C |
16: 87,179,547 (GRCm39) |
D1538G |
probably benign |
Het |
Maf1 |
T |
A |
15: 76,237,220 (GRCm39) |
|
probably benign |
Het |
Morn5 |
T |
C |
2: 35,945,049 (GRCm39) |
F91S |
probably damaging |
Het |
Ncan |
C |
T |
8: 70,567,698 (GRCm39) |
R138H |
possibly damaging |
Het |
Or10ak7 |
A |
T |
4: 118,791,859 (GRCm39) |
M62K |
probably damaging |
Het |
Or5ac21 |
G |
T |
16: 59,123,649 (GRCm39) |
L44F |
probably damaging |
Het |
Parg |
T |
C |
14: 31,960,531 (GRCm39) |
L82S |
probably damaging |
Het |
Ppp2r2b |
A |
T |
18: 42,778,874 (GRCm39) |
H417Q |
probably damaging |
Het |
Rb1cc1 |
T |
C |
1: 6,334,807 (GRCm39) |
L98P |
probably damaging |
Het |
Ryr1 |
C |
A |
7: 28,748,220 (GRCm39) |
V3752L |
possibly damaging |
Het |
Slc25a12 |
A |
G |
2: 71,109,979 (GRCm39) |
L489P |
probably damaging |
Het |
Slc38a8 |
C |
T |
8: 120,212,282 (GRCm39) |
V354M |
probably benign |
Het |
Slf2 |
A |
G |
19: 44,930,459 (GRCm39) |
E512G |
probably benign |
Het |
Tarbp1 |
A |
G |
8: 127,180,583 (GRCm39) |
M597T |
probably damaging |
Het |
Tgfb3 |
G |
A |
12: 86,116,550 (GRCm39) |
R163C |
probably damaging |
Het |
Tmco5b |
A |
G |
2: 113,127,265 (GRCm39) |
M279V |
probably benign |
Het |
Ttll9 |
G |
A |
2: 152,844,871 (GRCm39) |
G413D |
probably damaging |
Het |
Tut1 |
A |
G |
19: 8,939,751 (GRCm39) |
D245G |
probably damaging |
Het |
Usf3 |
T |
A |
16: 44,041,589 (GRCm39) |
V2023E |
probably damaging |
Het |
Vps33a |
C |
T |
5: 123,669,239 (GRCm39) |
G554D |
probably damaging |
Het |
Zfp27 |
C |
A |
7: 29,595,680 (GRCm39) |
R95M |
possibly damaging |
Het |
|
Other mutations in Inhca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01371:Inhca
|
APN |
9 |
103,131,975 (GRCm39) |
missense |
possibly damaging |
0.48 |
IGL02370:Inhca
|
APN |
9 |
103,140,273 (GRCm39) |
missense |
probably benign |
0.27 |
R0206:Inhca
|
UTSW |
9 |
103,159,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R0206:Inhca
|
UTSW |
9 |
103,159,861 (GRCm39) |
missense |
probably damaging |
1.00 |
R0831:Inhca
|
UTSW |
9 |
103,146,978 (GRCm39) |
missense |
possibly damaging |
0.50 |
R0849:Inhca
|
UTSW |
9 |
103,140,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1225:Inhca
|
UTSW |
9 |
103,132,038 (GRCm39) |
splice site |
probably benign |
|
R2061:Inhca
|
UTSW |
9 |
103,145,513 (GRCm39) |
missense |
probably benign |
0.01 |
R2176:Inhca
|
UTSW |
9 |
103,136,566 (GRCm39) |
splice site |
probably benign |
|
R4915:Inhca
|
UTSW |
9 |
103,129,054 (GRCm39) |
nonsense |
probably null |
|
R4917:Inhca
|
UTSW |
9 |
103,129,054 (GRCm39) |
nonsense |
probably null |
|
R5020:Inhca
|
UTSW |
9 |
103,159,701 (GRCm39) |
missense |
probably benign |
0.02 |
R5033:Inhca
|
UTSW |
9 |
103,156,613 (GRCm39) |
missense |
probably benign |
0.36 |
R5087:Inhca
|
UTSW |
9 |
103,143,420 (GRCm39) |
missense |
probably damaging |
0.98 |
R5174:Inhca
|
UTSW |
9 |
103,159,755 (GRCm39) |
splice site |
probably null |
|
R6283:Inhca
|
UTSW |
9 |
103,159,834 (GRCm39) |
nonsense |
probably null |
|
R7092:Inhca
|
UTSW |
9 |
103,158,242 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7175:Inhca
|
UTSW |
9 |
103,128,988 (GRCm39) |
critical splice donor site |
probably null |
|
R7347:Inhca
|
UTSW |
9 |
103,159,845 (GRCm39) |
missense |
possibly damaging |
0.67 |
R7380:Inhca
|
UTSW |
9 |
103,156,680 (GRCm39) |
nonsense |
probably null |
|
R7400:Inhca
|
UTSW |
9 |
103,127,861 (GRCm39) |
missense |
probably benign |
0.25 |
R7460:Inhca
|
UTSW |
9 |
103,131,847 (GRCm39) |
missense |
probably benign |
0.00 |
R7993:Inhca
|
UTSW |
9 |
103,140,332 (GRCm39) |
missense |
probably benign |
|
R8056:Inhca
|
UTSW |
9 |
103,143,423 (GRCm39) |
missense |
probably damaging |
1.00 |
R8686:Inhca
|
UTSW |
9 |
103,136,627 (GRCm39) |
missense |
probably benign |
0.00 |
R8869:Inhca
|
UTSW |
9 |
103,149,831 (GRCm39) |
missense |
probably damaging |
1.00 |
R9371:Inhca
|
UTSW |
9 |
103,158,252 (GRCm39) |
missense |
probably benign |
0.01 |
R9448:Inhca
|
UTSW |
9 |
103,149,781 (GRCm39) |
missense |
probably benign |
|
R9719:Inhca
|
UTSW |
9 |
103,132,014 (GRCm39) |
missense |
probably benign |
0.42 |
|
Posted On |
2015-12-18 |