Incidental Mutation 'R1225:Inhca'
ID |
152871 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Inhca
|
Ensembl Gene |
ENSMUSG00000033688 |
Gene Name |
inhibitor of carbonic anhydrase |
Synonyms |
mICA, 1300017J02Rik |
MMRRC Submission |
039294-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.264)
|
Stock # |
R1225 (G1)
|
Quality Score |
207 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
103127722-103165496 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to T
at 103132038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000035163]
[ENSMUST00000123530]
|
AlphaFold |
Q9DBD0 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000035163
|
SMART Domains |
Protein: ENSMUSP00000035163 Gene: ENSMUSG00000033688
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
|
SMART Domains |
Protein: ENSMUSP00000115867 Gene: ENSMUSG00000033688
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 |
probably benign
Transcript: ENSMUST00000154357
|
SMART Domains |
Protein: ENSMUSP00000123519 Gene: ENSMUSG00000033688
Domain | Start | End | E-Value | Type |
TR_FER
|
1 |
242 |
5.88e-81 |
SMART |
|
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.5%
- 20x: 93.3%
|
Validation Efficiency |
100% (43/43) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A730013G03Rik |
T |
A |
1: 192,515,953 (GRCm39) |
|
noncoding transcript |
Het |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Ahnak |
T |
A |
19: 8,980,247 (GRCm39) |
D510E |
probably damaging |
Het |
Angptl4 |
C |
T |
17: 34,000,165 (GRCm39) |
A68T |
possibly damaging |
Het |
Arid1a |
A |
G |
4: 133,414,676 (GRCm39) |
V1185A |
unknown |
Het |
Atp2c2 |
C |
A |
8: 120,461,984 (GRCm39) |
Q286K |
probably damaging |
Het |
Blzf1 |
T |
C |
1: 164,127,165 (GRCm39) |
E209G |
probably damaging |
Het |
Bmp6 |
A |
G |
13: 38,530,257 (GRCm39) |
T117A |
probably benign |
Het |
Cmip |
T |
C |
8: 118,172,110 (GRCm39) |
F394L |
probably damaging |
Het |
Col6a3 |
T |
A |
1: 90,739,238 (GRCm39) |
D330V |
probably damaging |
Het |
Crebbp |
A |
T |
16: 3,944,820 (GRCm39) |
S491R |
probably benign |
Het |
Dedd |
G |
A |
1: 171,167,863 (GRCm39) |
|
probably null |
Het |
Dennd4a |
A |
G |
9: 64,818,957 (GRCm39) |
H1704R |
probably benign |
Het |
Dicer1 |
C |
T |
12: 104,657,866 (GRCm39) |
V1903I |
probably damaging |
Het |
Dnah9 |
A |
G |
11: 65,761,886 (GRCm39) |
V3868A |
possibly damaging |
Het |
Eif5b |
A |
G |
1: 38,076,709 (GRCm39) |
I674V |
probably damaging |
Het |
F13a1 |
T |
C |
13: 37,209,825 (GRCm39) |
N47D |
probably benign |
Het |
Fancd2 |
T |
C |
6: 113,512,822 (GRCm39) |
S53P |
probably damaging |
Het |
Fsip1 |
C |
A |
2: 118,078,831 (GRCm39) |
L170F |
probably damaging |
Het |
Git2 |
A |
T |
5: 114,871,239 (GRCm39) |
|
probably benign |
Het |
Gm9742 |
T |
C |
13: 8,079,875 (GRCm39) |
|
noncoding transcript |
Het |
Heatr4 |
C |
T |
12: 84,024,820 (GRCm39) |
E334K |
probably benign |
Het |
Hoga1 |
T |
G |
19: 42,058,628 (GRCm39) |
V110G |
probably damaging |
Het |
Ighv6-4 |
T |
A |
12: 114,370,170 (GRCm39) |
D75V |
probably damaging |
Het |
Med15 |
G |
T |
16: 17,540,652 (GRCm39) |
S31R |
probably damaging |
Het |
Nbeal2 |
T |
C |
9: 110,461,954 (GRCm39) |
E1467G |
probably damaging |
Het |
Or2ag1 |
A |
T |
7: 106,313,731 (GRCm39) |
D52E |
probably benign |
Het |
Or2t6 |
T |
A |
14: 14,175,600 (GRCm38) |
I161F |
possibly damaging |
Het |
Or5ac19 |
T |
C |
16: 59,089,587 (GRCm39) |
T148A |
probably benign |
Het |
Papss1 |
T |
C |
3: 131,285,062 (GRCm39) |
|
probably benign |
Het |
Pde4d |
A |
T |
13: 110,086,755 (GRCm39) |
M610L |
probably benign |
Het |
Prickle4 |
T |
G |
17: 47,999,614 (GRCm39) |
|
probably null |
Het |
Sema3g |
A |
G |
14: 30,942,636 (GRCm39) |
Y79C |
probably damaging |
Het |
Setbp1 |
T |
A |
18: 78,901,423 (GRCm39) |
D748V |
probably damaging |
Het |
Slc46a2 |
A |
T |
4: 59,914,125 (GRCm39) |
V266E |
probably benign |
Het |
Slc9a8 |
T |
C |
2: 167,313,443 (GRCm39) |
I435T |
probably benign |
Het |
Snx29 |
T |
C |
16: 11,238,550 (GRCm39) |
|
probably benign |
Het |
Son |
C |
T |
16: 91,454,228 (GRCm39) |
R992C |
probably damaging |
Het |
Stxbp5 |
T |
C |
10: 9,688,135 (GRCm39) |
N389D |
possibly damaging |
Het |
Vmn1r28 |
C |
T |
6: 58,242,951 (GRCm39) |
Q265* |
probably null |
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 |
R0849:Inhca
|
UTSW |
9 |
103,140,256 (GRCm39) |
missense |
possibly damaging |
0.94 |
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'- AGAACACAGCACGGTTTGGCA -3'
(R):5'- CCCTTTGGTTAACACTCCCAGGAC -3'
Sequencing Primer
(F):5'- ACGGTTTGGCACTCTGGC -3'
(R):5'- actgccttctttctttctttctttc -3'
|
Posted On |
2014-01-29 |