Incidental Mutation 'R5939:Tmc7'
| ID |
462429 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc7
|
| Ensembl Gene |
ENSMUSG00000042246 |
| Gene Name |
transmembrane channel-like gene family 7 |
| Synonyms |
1700030H01Rik, C630024K23Rik |
| MMRRC Submission |
043243-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R5939 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 118144950 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Threonine
at position 537
(A537T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044195]
|
| AlphaFold |
Q8C428 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044195
AA Change: A537T
PolyPhen 2
Score 0.327 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: A537T
| 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 |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 97.9%
- 20x: 93.9%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam32 |
A |
T |
8: 25,404,138 (GRCm39) |
F225I |
probably damaging |
Het |
| Ager |
G |
T |
17: 34,817,175 (GRCm39) |
C38F |
probably damaging |
Het |
| Arel1 |
C |
A |
12: 84,973,066 (GRCm39) |
R577L |
probably damaging |
Het |
| Armh1 |
T |
C |
4: 117,087,119 (GRCm39) |
Y182C |
probably damaging |
Het |
| Cabp2 |
G |
T |
19: 4,136,470 (GRCm39) |
C172F |
possibly damaging |
Het |
| Cenps |
C |
A |
4: 149,214,658 (GRCm39) |
|
probably benign |
Het |
| D630045J12Rik |
A |
C |
6: 38,171,904 (GRCm39) |
S755A |
possibly damaging |
Het |
| Duox1 |
A |
T |
2: 122,176,832 (GRCm39) |
H1451L |
probably damaging |
Het |
| Dync2h1 |
A |
G |
9: 7,037,801 (GRCm39) |
V3359A |
probably damaging |
Het |
| Erlin2 |
T |
C |
8: 27,526,554 (GRCm39) |
F305L |
probably benign |
Het |
| Gm10428 |
A |
C |
11: 62,644,288 (GRCm39) |
|
probably benign |
Het |
| Gnal |
G |
A |
18: 67,324,456 (GRCm39) |
V204M |
probably damaging |
Het |
| Intu |
T |
C |
3: 40,647,014 (GRCm39) |
V629A |
probably damaging |
Het |
| Lrguk |
G |
T |
6: 34,055,688 (GRCm39) |
C435F |
probably damaging |
Het |
| Man1c1 |
C |
T |
4: 134,293,147 (GRCm39) |
V543M |
probably damaging |
Het |
| Mcm3ap |
A |
G |
10: 76,344,195 (GRCm39) |
H1779R |
probably benign |
Het |
| Neb |
T |
C |
2: 52,147,606 (GRCm39) |
T2776A |
probably benign |
Het |
| Nek10 |
A |
T |
14: 14,931,290 (GRCm38) |
Y754F |
possibly damaging |
Het |
| Nr3c1 |
A |
G |
18: 39,553,706 (GRCm39) |
I664T |
probably benign |
Het |
| Nrip1 |
T |
C |
16: 76,089,010 (GRCm39) |
E849G |
probably damaging |
Het |
| Nrros |
A |
G |
16: 31,962,272 (GRCm39) |
F546L |
probably benign |
Het |
| Or12e8 |
A |
C |
2: 87,188,048 (GRCm39) |
I87L |
possibly damaging |
Het |
| Or5d39 |
T |
C |
2: 87,979,853 (GRCm39) |
Y170C |
probably damaging |
Het |
| Pcdhb16 |
A |
G |
18: 37,611,117 (GRCm39) |
T26A |
probably benign |
Het |
| Penk |
A |
G |
4: 4,138,010 (GRCm39) |
F45S |
probably benign |
Het |
| Pgap4 |
T |
A |
4: 49,586,412 (GRCm39) |
Q252L |
probably damaging |
Het |
| Ppp2r3d |
A |
T |
9: 101,089,824 (GRCm39) |
N166K |
probably benign |
Het |
| Psmb1 |
A |
G |
17: 15,718,440 (GRCm39) |
F29L |
probably damaging |
Het |
| Rab23 |
T |
C |
1: 33,762,990 (GRCm39) |
V20A |
probably damaging |
Het |
| Ryr1 |
C |
T |
7: 28,815,552 (GRCm39) |
A113T |
probably damaging |
Het |
| Ryr2 |
C |
T |
13: 11,805,218 (GRCm39) |
R882K |
probably damaging |
Het |
| Slc6a6 |
A |
G |
6: 91,731,929 (GRCm39) |
N586S |
probably benign |
Het |
| Slc9c1 |
A |
G |
16: 45,368,031 (GRCm39) |
I207V |
probably benign |
Het |
| Spef2 |
G |
A |
15: 9,614,301 (GRCm39) |
T1215I |
probably benign |
Het |
| Thoc2l |
T |
C |
5: 104,667,073 (GRCm39) |
Y532H |
possibly damaging |
Het |
| Tmem70 |
T |
C |
1: 16,747,615 (GRCm39) |
V243A |
probably benign |
Het |
| Top2b |
T |
C |
14: 16,422,786 (GRCm38) |
Y1408H |
probably damaging |
Het |
| Tpcn1 |
A |
T |
5: 120,677,892 (GRCm39) |
F642I |
probably damaging |
Het |
| Xirp1 |
T |
G |
9: 119,847,575 (GRCm39) |
D436A |
probably benign |
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 |
|
IGL01456:Tmc7
|
APN |
7 |
118,146,533 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TTCCTGTCCACAGCACAGC -3'
(R):5'- CTGCGTGCACAACCATGT -3'
Sequencing Primer
(F):5'- CAGCAAAAACCGGAGCTATAG -3'
(R):5'- TGCACAACCATGTACACACTC -3'
|
| Posted On |
2017-02-28 |
Incidental Mutation