Incidental Mutation 'IGL01371:Inhca'
ID |
76162 |
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: 0.298)
|
Stock # |
IGL01371
|
Quality Score |
|
Status
|
|
Chromosome |
9 |
Chromosomal Location |
103127722-103165496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 103131975 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 504
(E504G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000115867
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035163]
[ENSMUST00000123530]
|
AlphaFold |
Q9DBD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035163
AA Change: E582G
PolyPhen 2
Score 0.066 (Sensitivity: 0.94; Specificity: 0.84)
|
SMART Domains |
Protein: ENSMUSP00000035163 Gene: ENSMUSG00000033688 AA Change: E582G
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 |
possibly damaging
Transcript: ENSMUST00000123530
AA Change: E504G
PolyPhen 2
Score 0.480 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000115867 Gene: ENSMUSG00000033688 AA Change: E504G
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 |
noncoding transcript
Transcript: ENSMUST00000151073
|
Predicted Effect |
unknown
Transcript: ENSMUST00000154357
AA Change: E149G
|
SMART Domains |
Protein: ENSMUSP00000123519 Gene: ENSMUSG00000033688 AA Change: E149G
Domain | Start | End | E-Value | Type |
TR_FER
|
1 |
242 |
5.88e-81 |
SMART |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 31 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc9 |
C |
T |
6: 142,602,340 (GRCm39) |
R691Q |
probably benign |
Het |
Ambra1 |
G |
T |
2: 91,655,631 (GRCm39) |
G700W |
probably damaging |
Het |
Atp6v1c1 |
A |
G |
15: 38,683,204 (GRCm39) |
I198V |
probably benign |
Het |
Bptf |
T |
C |
11: 106,946,733 (GRCm39) |
N2353S |
probably benign |
Het |
Cd84 |
A |
T |
1: 171,713,937 (GRCm39) |
T312S |
probably benign |
Het |
Chl1 |
G |
T |
6: 103,692,325 (GRCm39) |
C1064F |
probably damaging |
Het |
Clca4a |
T |
C |
3: 144,666,433 (GRCm39) |
D473G |
probably damaging |
Het |
Dsp |
A |
G |
13: 38,377,593 (GRCm39) |
R1793G |
probably benign |
Het |
Dync1h1 |
A |
G |
12: 110,605,285 (GRCm39) |
N2374S |
probably benign |
Het |
Ecpas |
A |
G |
4: 58,809,718 (GRCm39) |
L1583P |
probably damaging |
Het |
Gm43191 |
A |
T |
3: 116,439,112 (GRCm39) |
I130N |
probably damaging |
Het |
Gm5134 |
T |
G |
10: 75,840,581 (GRCm39) |
L475R |
probably damaging |
Het |
Grm1 |
A |
G |
10: 10,595,783 (GRCm39) |
V615A |
probably benign |
Het |
Loxl1 |
T |
A |
9: 58,201,705 (GRCm39) |
Q462L |
possibly damaging |
Het |
Nwd1 |
T |
C |
8: 73,401,743 (GRCm39) |
W755R |
probably damaging |
Het |
Or10j27 |
A |
G |
1: 172,958,098 (GRCm39) |
S229P |
possibly damaging |
Het |
Or5b106 |
G |
A |
19: 13,123,192 (GRCm39) |
T277I |
possibly damaging |
Het |
Or5t17 |
A |
T |
2: 86,833,267 (GRCm39) |
K318M |
probably benign |
Het |
Otud4 |
T |
C |
8: 80,400,390 (GRCm39) |
F1034L |
probably damaging |
Het |
Pakap |
C |
A |
4: 57,856,325 (GRCm39) |
D551E |
probably benign |
Het |
Panx3 |
T |
G |
9: 37,572,771 (GRCm39) |
T260P |
probably benign |
Het |
Ppfia4 |
A |
T |
1: 134,255,824 (GRCm39) |
S194T |
probably benign |
Het |
Rnf135 |
T |
A |
11: 80,080,081 (GRCm39) |
I124N |
probably benign |
Het |
Rpf1 |
T |
C |
3: 146,213,302 (GRCm39) |
N283S |
probably damaging |
Het |
Smg5 |
A |
G |
3: 88,266,951 (GRCm39) |
|
probably benign |
Het |
Stard9 |
A |
G |
2: 120,531,849 (GRCm39) |
E2702G |
probably benign |
Het |
Tbk1 |
A |
T |
10: 121,395,776 (GRCm39) |
M439K |
probably benign |
Het |
Tmem235 |
T |
C |
11: 117,753,132 (GRCm39) |
L85P |
possibly damaging |
Het |
Trhde |
A |
T |
10: 114,424,405 (GRCm39) |
V460E |
possibly damaging |
Het |
Ttn |
T |
C |
2: 76,620,608 (GRCm39) |
|
probably benign |
Het |
Vmn1r83 |
A |
G |
7: 12,055,160 (GRCm39) |
F299S |
probably benign |
Het |
|
Other mutations in Inhca |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02370:Inhca
|
APN |
9 |
103,140,273 (GRCm39) |
missense |
probably benign |
0.27 |
IGL02899:Inhca
|
APN |
9 |
103,154,773 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-10-07 |