Incidental Mutation 'R0849:Inhca'
ID |
77081 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inhca
|
Ensembl Gene |
ENSMUSG00000033688 |
Gene Name |
inhibitor of carbonic anhydrase |
Synonyms |
mICA, 1300017J02Rik |
MMRRC Submission |
039028-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R0849 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
103127722-103165496 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 103140256 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Aspartic acid
at position 488
(Y488D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000035163
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035163]
[ENSMUST00000123530]
|
AlphaFold |
Q9DBD0 |
PDB Structure |
Crystal Structure of the Murine Inhibitor of Carbonic Anhydrase [X-RAY DIFFRACTION]
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000035163
AA Change: Y488D
PolyPhen 2
Score 0.938 (Sensitivity: 0.80; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000035163 Gene: ENSMUSG00000033688 AA Change: Y488D
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 benign
Transcript: ENSMUST00000123530
AA Change: Y410D
PolyPhen 2
Score 0.121 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000115867 Gene: ENSMUSG00000033688 AA Change: Y410D
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 |
unknown
Transcript: ENSMUST00000154357
AA Change: Y51D
|
SMART Domains |
Protein: ENSMUSP00000123519 Gene: ENSMUSG00000033688 AA Change: Y51D
Domain | Start | End | E-Value | Type |
TR_FER
|
1 |
242 |
5.88e-81 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.5%
- 10x: 96.5%
- 20x: 92.5%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arhgap5 |
T |
C |
12: 52,566,406 (GRCm39) |
F1126L |
probably benign |
Het |
Arhgef11 |
G |
T |
3: 87,643,203 (GRCm39) |
A1472S |
probably benign |
Het |
Armc9 |
G |
A |
1: 86,184,992 (GRCm39) |
R681K |
probably benign |
Het |
Atxn2 |
T |
A |
5: 121,885,484 (GRCm39) |
|
probably null |
Het |
B3gnt6 |
C |
A |
7: 97,843,950 (GRCm39) |
L3F |
probably benign |
Het |
Cand2 |
A |
G |
6: 115,769,352 (GRCm39) |
T721A |
probably damaging |
Het |
Cntn2 |
A |
T |
1: 132,450,124 (GRCm39) |
M590K |
probably benign |
Het |
Cntn4 |
A |
T |
6: 106,644,418 (GRCm39) |
D622V |
probably damaging |
Het |
Des |
T |
G |
1: 75,337,272 (GRCm39) |
S71A |
probably benign |
Het |
Dnah5 |
C |
A |
15: 28,263,745 (GRCm39) |
R827S |
probably damaging |
Het |
Dstn |
G |
A |
2: 143,780,455 (GRCm39) |
G52S |
probably benign |
Het |
Eln |
T |
A |
5: 134,736,835 (GRCm39) |
R704* |
probably null |
Het |
Fezf2 |
T |
A |
14: 12,342,607 (GRCm38) |
K419N |
probably damaging |
Het |
Gm2381 |
G |
A |
7: 42,469,372 (GRCm39) |
Q251* |
probably null |
Het |
Grin3a |
G |
A |
4: 49,665,501 (GRCm39) |
R1045* |
probably null |
Het |
Herc2 |
T |
A |
7: 55,856,326 (GRCm39) |
H3921Q |
probably damaging |
Het |
Hs3st2 |
A |
G |
7: 121,100,255 (GRCm39) |
E367G |
possibly damaging |
Het |
Hydin |
G |
A |
8: 111,325,616 (GRCm39) |
R4675H |
probably damaging |
Het |
Irf2bp1 |
T |
C |
7: 18,738,659 (GRCm39) |
S100P |
possibly damaging |
Het |
Itga10 |
A |
G |
3: 96,559,846 (GRCm39) |
I500M |
possibly damaging |
Het |
Kcnt2 |
T |
C |
1: 140,435,500 (GRCm39) |
V496A |
probably damaging |
Het |
Mansc1 |
T |
C |
6: 134,587,670 (GRCm39) |
D169G |
probably benign |
Het |
Mdn1 |
T |
A |
4: 32,741,835 (GRCm39) |
S3869T |
probably damaging |
Het |
Mrgprb4 |
G |
A |
7: 47,848,868 (GRCm39) |
T20I |
probably benign |
Het |
Nek4 |
A |
G |
14: 30,679,253 (GRCm39) |
E198G |
probably damaging |
Het |
Or12e8 |
G |
T |
2: 87,188,609 (GRCm39) |
V274L |
probably benign |
Het |
Or2y10 |
G |
A |
11: 49,455,129 (GRCm39) |
C127Y |
probably damaging |
Het |
Or5w11 |
C |
A |
2: 87,459,626 (GRCm39) |
T273K |
possibly damaging |
Het |
Ppfia4 |
A |
T |
1: 134,247,110 (GRCm39) |
F537I |
probably benign |
Het |
Rarb |
A |
G |
14: 16,434,293 (GRCm38) |
V295A |
probably damaging |
Het |
Ryr1 |
A |
G |
7: 28,740,104 (GRCm39) |
S3941P |
probably damaging |
Het |
Scnn1b |
A |
G |
7: 121,511,698 (GRCm39) |
N370S |
probably damaging |
Het |
Stard9 |
C |
A |
2: 120,504,117 (GRCm39) |
S221R |
probably damaging |
Het |
Sv2c |
C |
T |
13: 96,126,319 (GRCm39) |
G311D |
probably damaging |
Het |
Tas2r109 |
T |
C |
6: 132,957,856 (GRCm39) |
I25V |
probably benign |
Het |
Tbcel |
A |
C |
9: 42,348,453 (GRCm39) |
I305S |
probably damaging |
Het |
Tmem35b |
A |
G |
4: 127,019,990 (GRCm39) |
|
probably null |
Het |
Tmem38b |
T |
C |
4: 53,840,765 (GRCm39) |
L60S |
probably damaging |
Het |
Tmtc4 |
A |
G |
14: 123,182,966 (GRCm39) |
I244T |
possibly damaging |
Het |
Usp9y |
C |
A |
Y: 1,394,002 (GRCm39) |
C576F |
probably damaging |
Het |
Vcan |
A |
T |
13: 89,853,072 (GRCm39) |
N629K |
possibly damaging |
Het |
Vmn2r22 |
T |
C |
6: 123,614,363 (GRCm39) |
Y409C |
probably damaging |
Het |
Vmn2r-ps158 |
A |
G |
7: 42,674,142 (GRCm39) |
Y400C |
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 |
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 |
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 |
PCR Primer
(F):5'- TGGAGTTCACTTTCTGTCAAGCCC -3'
(R):5'- CTCCCATTGTCACAGATCCTGAACC -3'
Sequencing Primer
(F):5'- TTCTGTCAAGCCCATGACC -3'
(R):5'- TATGTAGTTTCAGCACACCAGC -3'
|
Posted On |
2013-10-16 |