Incidental Mutation 'IGL01456:Tmc7'
| ID |
84800 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Tmc7
|
| Ensembl Gene |
ENSMUSG00000042246 |
| Gene Name |
transmembrane channel-like gene family 7 |
| Synonyms |
1700030H01Rik, C630024K23Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL01456
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
C to A
at 118146533 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044195]
|
| AlphaFold |
Q8C428 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044195
|
| SMART Domains |
Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
167 |
189 |
N/A |
INTRINSIC |
|
transmembrane domain
|
216 |
238 |
N/A |
INTRINSIC |
|
transmembrane domain
|
258 |
280 |
N/A |
INTRINSIC |
|
transmembrane domain
|
360 |
382 |
N/A |
INTRINSIC |
|
transmembrane domain
|
402 |
424 |
N/A |
INTRINSIC |
|
Pfam:TMC
|
484 |
595 |
5.2e-51 |
PFAM |
|
transmembrane domain
|
599 |
621 |
N/A |
INTRINSIC |
|
transmembrane domain
|
664 |
686 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153635
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 32 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam6b |
T |
A |
12: 113,455,083 (GRCm39) |
D633E |
probably benign |
Het |
| Akap13 |
T |
C |
7: 75,252,595 (GRCm39) |
C242R |
probably damaging |
Het |
| Ap5z1 |
T |
C |
5: 142,453,791 (GRCm39) |
L175P |
probably damaging |
Het |
| Arid1b |
A |
G |
17: 5,341,510 (GRCm39) |
E938G |
probably damaging |
Het |
| Arid4a |
A |
G |
12: 71,114,036 (GRCm39) |
N208D |
probably benign |
Het |
| Atr |
A |
G |
9: 95,832,618 (GRCm39) |
H2556R |
possibly damaging |
Het |
| Cald1 |
A |
T |
6: 34,741,931 (GRCm39) |
D438V |
probably damaging |
Het |
| Dcbld2 |
C |
T |
16: 58,229,236 (GRCm39) |
P40S |
possibly damaging |
Het |
| Dock8 |
G |
A |
19: 25,096,863 (GRCm39) |
M590I |
possibly damaging |
Het |
| Gm1818 |
A |
T |
12: 48,602,583 (GRCm39) |
|
noncoding transcript |
Het |
| Hace1 |
A |
G |
10: 45,586,094 (GRCm39) |
|
probably benign |
Het |
| Igkv10-96 |
A |
G |
6: 68,609,086 (GRCm39) |
Y70H |
probably benign |
Het |
| Kdm2a |
G |
T |
19: 4,401,783 (GRCm39) |
H200Q |
probably damaging |
Het |
| Ldha |
A |
G |
7: 46,499,602 (GRCm39) |
D111G |
possibly damaging |
Het |
| Map7 |
A |
G |
10: 20,149,550 (GRCm39) |
E567G |
unknown |
Het |
| Nbeal1 |
G |
T |
1: 60,269,787 (GRCm39) |
L375F |
probably damaging |
Het |
| Nectin3 |
T |
C |
16: 46,279,216 (GRCm39) |
E254G |
probably benign |
Het |
| Nlrp4b |
A |
T |
7: 10,448,150 (GRCm39) |
I118F |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,269,683 (GRCm39) |
V3287D |
probably damaging |
Het |
| Ptpre |
T |
G |
7: 135,271,531 (GRCm39) |
V375G |
probably damaging |
Het |
| Rabgap1 |
A |
G |
2: 37,431,187 (GRCm39) |
E746G |
probably damaging |
Het |
| Sh2b2 |
C |
T |
5: 136,253,321 (GRCm39) |
C311Y |
probably damaging |
Het |
| Skor1 |
G |
A |
9: 63,052,772 (GRCm39) |
T399I |
probably damaging |
Het |
| Sptbn2 |
A |
G |
19: 4,796,777 (GRCm39) |
T1792A |
probably damaging |
Het |
| Tiparp |
G |
T |
3: 65,460,030 (GRCm39) |
G442* |
probably null |
Het |
| Tln1 |
G |
A |
4: 43,543,432 (GRCm39) |
|
probably benign |
Het |
| Top2a |
A |
T |
11: 98,901,856 (GRCm39) |
L458Q |
probably damaging |
Het |
| Tpte |
A |
G |
8: 22,835,068 (GRCm39) |
|
probably benign |
Het |
| Unc13a |
G |
A |
8: 72,097,211 (GRCm39) |
R1228W |
probably damaging |
Het |
| Vipr1 |
C |
T |
9: 121,494,244 (GRCm39) |
T275M |
probably damaging |
Het |
| Vmn1r177 |
G |
T |
7: 23,565,753 (GRCm39) |
P41Q |
possibly damaging |
Het |
| Vmn2r4 |
A |
T |
3: 64,313,816 (GRCm39) |
N388K |
probably damaging |
Het |
|
| Other mutations in Tmc7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01431:Tmc7
|
APN |
7 |
118,151,985 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01784:Tmc7
|
APN |
7 |
118,146,538 (GRCm39) |
critical splice donor site |
probably null |
|
|
IGL02158:Tmc7
|
APN |
7 |
118,137,434 (GRCm39) |
missense |
probably damaging |
1.00 |
|
PIT4403001:Tmc7
|
UTSW |
7 |
118,146,624 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
PIT4403001:Tmc7
|
UTSW |
7 |
118,146,623 (GRCm39) |
missense |
probably benign |
0.04 |
|
PIT4696001:Tmc7
|
UTSW |
7 |
118,163,566 (GRCm39) |
missense |
probably benign |
0.04 |
|
R1164:Tmc7
|
UTSW |
7 |
118,141,247 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1169:Tmc7
|
UTSW |
7 |
118,150,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1170:Tmc7
|
UTSW |
7 |
118,150,483 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1420:Tmc7
|
UTSW |
7 |
118,165,440 (GRCm39) |
nonsense |
probably null |
|
|
R1885:Tmc7
|
UTSW |
7 |
118,160,310 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1886:Tmc7
|
UTSW |
7 |
118,160,310 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1887:Tmc7
|
UTSW |
7 |
118,160,310 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1923:Tmc7
|
UTSW |
7 |
118,144,850 (GRCm39) |
missense |
probably benign |
0.08 |
|
R2220:Tmc7
|
UTSW |
7 |
118,152,039 (GRCm39) |
missense |
possibly damaging |
0.87 |
|
R4858:Tmc7
|
UTSW |
7 |
118,142,565 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5000:Tmc7
|
UTSW |
7 |
118,158,077 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5038:Tmc7
|
UTSW |
7 |
118,142,588 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5075:Tmc7
|
UTSW |
7 |
118,151,919 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5272:Tmc7
|
UTSW |
7 |
118,160,276 (GRCm39) |
missense |
probably benign |
|
|
R5691:Tmc7
|
UTSW |
7 |
118,141,116 (GRCm39) |
missense |
probably benign |
|
|
R5800:Tmc7
|
UTSW |
7 |
118,138,663 (GRCm39) |
missense |
probably benign |
|
|
R5889:Tmc7
|
UTSW |
7 |
118,165,549 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5939:Tmc7
|
UTSW |
7 |
118,144,950 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6251:Tmc7
|
UTSW |
7 |
118,160,261 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R6642:Tmc7
|
UTSW |
7 |
118,144,834 (GRCm39) |
nonsense |
probably null |
|
|
R6644:Tmc7
|
UTSW |
7 |
118,137,385 (GRCm39) |
missense |
probably benign |
|
|
R6814:Tmc7
|
UTSW |
7 |
118,146,846 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6872:Tmc7
|
UTSW |
7 |
118,146,846 (GRCm39) |
missense |
probably benign |
0.07 |
|
R6967:Tmc7
|
UTSW |
7 |
118,146,901 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7165:Tmc7
|
UTSW |
7 |
118,155,157 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7492:Tmc7
|
UTSW |
7 |
118,141,189 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7543:Tmc7
|
UTSW |
7 |
118,144,979 (GRCm39) |
missense |
probably benign |
0.01 |
|
R8048:Tmc7
|
UTSW |
7 |
118,165,468 (GRCm39) |
missense |
probably benign |
|
|
R8962:Tmc7
|
UTSW |
7 |
118,160,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8964:Tmc7
|
UTSW |
7 |
118,160,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8966:Tmc7
|
UTSW |
7 |
118,160,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R8967:Tmc7
|
UTSW |
7 |
118,160,228 (GRCm39) |
missense |
probably benign |
0.00 |
|
R9480:Tmc7
|
UTSW |
7 |
118,141,226 (GRCm39) |
missense |
probably benign |
|
|
R9614:Tmc7
|
UTSW |
7 |
118,141,160 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9743:Tmc7
|
UTSW |
7 |
118,150,452 (GRCm39) |
missense |
probably damaging |
0.99 |
|
| Posted On |
2013-11-11 |
Incidental Mutation