Incidental Mutation 'R0206:Inhca'
ID |
66384 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inhca
|
Ensembl Gene |
ENSMUSG00000033688 |
Gene Name |
inhibitor of carbonic anhydrase |
Synonyms |
mICA, 1300017J02Rik |
MMRRC Submission |
038459-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R0206 (G1)
|
Quality Score |
85 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
103127722-103165496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 103159861 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Cysteine to Arginine
at position 5
(C5R)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000116504
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035163]
[ENSMUST00000123530]
[ENSMUST00000142540]
|
AlphaFold |
Q9DBD0 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035163
AA Change: C17R
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000035163 Gene: ENSMUSG00000033688 AA Change: C17R
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 |
unknown
Transcript: ENSMUST00000123530
AA Change: C17R
|
SMART Domains |
Protein: ENSMUSP00000115867 Gene: ENSMUSG00000033688 AA Change: C17R
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 damaging
Transcript: ENSMUST00000142540
AA Change: C5R
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150524
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 95.8%
- 3x: 87.0%
- 10x: 38.5%
- 20x: 5.3%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 22 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A530064D06Rik |
G |
A |
17: 48,470,486 (GRCm39) |
T165I |
probably benign |
Het |
Adam26a |
A |
C |
8: 44,023,455 (GRCm39) |
F12V |
possibly damaging |
Het |
Aldh1l1 |
T |
C |
6: 90,546,848 (GRCm39) |
F384L |
possibly damaging |
Het |
Cit |
A |
T |
5: 116,132,089 (GRCm39) |
N1782Y |
possibly damaging |
Het |
Cmya5 |
A |
G |
13: 93,232,065 (GRCm39) |
S1008P |
probably damaging |
Het |
Dnah11 |
A |
C |
12: 118,007,509 (GRCm39) |
N2156K |
probably damaging |
Het |
Gm20441 |
A |
G |
10: 75,608,719 (GRCm39) |
M1T |
probably null |
Het |
Inpp5k |
T |
C |
11: 75,521,969 (GRCm39) |
I15T |
probably benign |
Het |
Loxhd1 |
T |
A |
18: 77,492,562 (GRCm39) |
F1334L |
possibly damaging |
Het |
Me3 |
A |
T |
7: 89,498,868 (GRCm39) |
T483S |
probably benign |
Het |
Med1 |
A |
G |
11: 98,046,515 (GRCm39) |
|
probably benign |
Het |
Mxra8 |
T |
A |
4: 155,927,053 (GRCm39) |
I329N |
probably damaging |
Het |
Mybphl |
T |
C |
3: 108,282,731 (GRCm39) |
V207A |
probably damaging |
Het |
Myom1 |
T |
C |
17: 71,344,292 (GRCm39) |
S266P |
probably damaging |
Het |
Or1d2 |
A |
T |
11: 74,255,968 (GRCm39) |
I158F |
probably benign |
Het |
Or52b1 |
A |
T |
7: 104,979,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Or5m3 |
T |
C |
2: 85,838,636 (GRCm39) |
I172T |
probably damaging |
Het |
Or6f1 |
T |
C |
7: 85,970,854 (GRCm39) |
Y102C |
probably benign |
Het |
Prex2 |
T |
A |
1: 11,355,368 (GRCm39) |
D1556E |
probably damaging |
Het |
Slc35d1 |
T |
C |
4: 103,065,351 (GRCm39) |
T177A |
probably damaging |
Het |
Vmn2r6 |
T |
C |
3: 64,447,333 (GRCm39) |
T578A |
probably benign |
Het |
Zkscan1 |
T |
A |
5: 138,099,448 (GRCm39) |
C391S |
probably 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 |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2013-08-19 |