Incidental Mutation 'R1420:Tmc7'
| ID |
160042 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc7
|
| Ensembl Gene |
ENSMUSG00000042246 |
| Gene Name |
transmembrane channel-like gene family 7 |
| Synonyms |
1700030H01Rik, C630024K23Rik |
| MMRRC Submission |
039476-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1420 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 118165440 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 91
(Y91*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044195]
|
| AlphaFold |
Q8C428 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044195
AA Change: Y91*
|
| SMART Domains |
Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: Y91*
| 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: ENSMUST00000145989
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153635
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.0%
- 10x: 95.6%
- 20x: 90.6%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aldh1l2 |
A |
G |
10: 83,331,799 (GRCm39) |
Y669H |
probably damaging |
Het |
| Amotl2 |
A |
T |
9: 102,601,982 (GRCm39) |
M409L |
possibly damaging |
Het |
| Ankrd35 |
A |
G |
3: 96,592,054 (GRCm39) |
E780G |
probably benign |
Het |
| Brwd1 |
T |
C |
16: 95,837,234 (GRCm39) |
Y866C |
probably damaging |
Het |
| Cul4b |
G |
C |
X: 37,653,918 (GRCm39) |
|
probably null |
Het |
| Daw1 |
A |
T |
1: 83,137,548 (GRCm39) |
Y10F |
possibly damaging |
Het |
| Dgki |
A |
T |
6: 37,027,204 (GRCm39) |
|
probably null |
Het |
| Dnah3 |
A |
T |
7: 119,551,202 (GRCm39) |
V3039E |
probably damaging |
Het |
| Ercc4 |
C |
T |
16: 12,948,073 (GRCm39) |
T340I |
probably benign |
Het |
| Fam83b |
T |
C |
9: 76,399,894 (GRCm39) |
N403S |
possibly damaging |
Het |
| Fbh1 |
A |
G |
2: 11,772,493 (GRCm39) |
F63L |
probably benign |
Het |
| Foxm1 |
G |
A |
6: 128,349,884 (GRCm39) |
R395H |
possibly damaging |
Het |
| Gtpbp4 |
C |
T |
13: 9,023,298 (GRCm39) |
A589T |
probably benign |
Het |
| Ifna7 |
C |
A |
4: 88,734,906 (GRCm39) |
H148N |
probably damaging |
Het |
| Il23r |
T |
C |
6: 67,463,181 (GRCm39) |
Y104C |
probably damaging |
Het |
| Il31ra |
A |
T |
13: 112,668,286 (GRCm39) |
W347R |
probably damaging |
Het |
| Ints7 |
T |
G |
1: 191,345,169 (GRCm39) |
F620V |
possibly damaging |
Het |
| Iqcd |
T |
C |
5: 120,738,860 (GRCm39) |
L226P |
probably damaging |
Het |
| Jak3 |
G |
T |
8: 72,134,182 (GRCm39) |
R428L |
possibly damaging |
Het |
| Kif28 |
C |
A |
1: 179,529,962 (GRCm39) |
C733F |
probably damaging |
Het |
| Klkb1 |
C |
A |
8: 45,729,183 (GRCm39) |
C347F |
probably damaging |
Het |
| Ksr2 |
A |
G |
5: 117,552,904 (GRCm39) |
E4G |
probably benign |
Het |
| Lama1 |
T |
C |
17: 68,097,942 (GRCm39) |
L1774P |
probably damaging |
Het |
| Lrriq3 |
A |
G |
3: 154,893,349 (GRCm39) |
E350G |
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,659,115 (GRCm39) |
A834V |
probably benign |
Het |
| Ncoa6 |
G |
A |
2: 155,263,073 (GRCm39) |
Q454* |
probably null |
Het |
| Nfatc2 |
C |
A |
2: 168,346,585 (GRCm39) |
M836I |
probably benign |
Het |
| Nphp3 |
G |
T |
9: 103,913,092 (GRCm39) |
|
probably null |
Het |
| Olfml2b |
C |
T |
1: 170,496,596 (GRCm39) |
T409M |
probably benign |
Het |
| Oprk1 |
A |
G |
1: 5,672,544 (GRCm39) |
K227R |
probably damaging |
Het |
| Or8g35 |
A |
T |
9: 39,381,289 (GRCm39) |
H244Q |
probably damaging |
Het |
| Pate1 |
A |
T |
9: 35,596,505 (GRCm39) |
W87R |
probably damaging |
Het |
| Pcnx4 |
T |
C |
12: 72,602,760 (GRCm39) |
Y341H |
probably benign |
Het |
| Pde4c |
T |
A |
8: 71,201,066 (GRCm39) |
H421Q |
probably damaging |
Het |
| Pglyrp4 |
T |
C |
3: 90,636,021 (GRCm39) |
V82A |
probably damaging |
Het |
| Pnmt |
G |
T |
11: 98,278,502 (GRCm39) |
R156L |
probably benign |
Het |
| Prdm9 |
C |
A |
17: 15,764,638 (GRCm39) |
C714F |
probably damaging |
Het |
| Pwp1 |
T |
C |
10: 85,712,402 (GRCm39) |
V80A |
probably damaging |
Het |
| Pxdn |
T |
C |
12: 30,052,067 (GRCm39) |
L568P |
probably damaging |
Het |
| Rasgrp4 |
C |
A |
7: 28,839,770 (GRCm39) |
Q161K |
probably damaging |
Het |
| Rnf138 |
A |
G |
18: 21,159,159 (GRCm39) |
E193G |
probably damaging |
Het |
| Slc16a6 |
A |
G |
11: 109,345,772 (GRCm39) |
V413A |
probably damaging |
Het |
| Slc7a15 |
T |
C |
12: 8,584,442 (GRCm39) |
T363A |
probably benign |
Het |
| Sufu |
T |
C |
19: 46,385,623 (GRCm39) |
S28P |
probably benign |
Het |
| Tex19.1 |
T |
C |
11: 121,037,872 (GRCm39) |
S77P |
probably damaging |
Het |
| Ttbk2 |
C |
G |
2: 120,576,393 (GRCm39) |
R792S |
probably benign |
Het |
| Tyw1 |
T |
C |
5: 130,303,586 (GRCm39) |
|
probably null |
Het |
| U2surp |
A |
G |
9: 95,344,856 (GRCm39) |
S907P |
probably benign |
Het |
| Vmn2r115 |
ATCTTCT |
ATCT |
17: 23,578,962 (GRCm39) |
|
probably benign |
Het |
| Vps50 |
T |
A |
6: 3,588,007 (GRCm39) |
L660* |
probably null |
Het |
| Wdr55 |
A |
G |
18: 36,893,392 (GRCm39) |
E18G |
probably benign |
Het |
| Wipi1 |
A |
G |
11: 109,469,198 (GRCm39) |
V331A |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TCACAGCAGCTTAGGAATGCTCAC -3'
(R):5'- ACCGTCTGCAAGGCTTGTTCATAG -3'
Sequencing Primer
(F):5'- AGCTTAGGAATGCTCACTACAG -3'
(R):5'- CTGAGATCCAATGGCTGAGATCC -3'
|
| Posted On |
2014-03-14 |
Incidental Mutation