Incidental Mutation 'R1923:Tmc7'
| ID |
213219 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc7
|
| Ensembl Gene |
ENSMUSG00000042246 |
| Gene Name |
transmembrane channel-like gene family 7 |
| Synonyms |
1700030H01Rik, C630024K23Rik |
| MMRRC Submission |
039941-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R1923 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 118144850 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 570
(F570S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044195]
|
| AlphaFold |
Q8C428 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000044195
AA Change: F570S
PolyPhen 2
Score 0.084 (Sensitivity: 0.93; Specificity: 0.85)
|
| SMART Domains |
Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: F570S
| 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
|
| Meta Mutation Damage Score |
0.1483 |
| Coding Region Coverage |
- 1x: 97.5%
- 3x: 96.9%
- 10x: 95.5%
- 20x: 92.9%
|
| Validation Efficiency |
98% (52/53) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
T |
C |
10: 78,903,743 (GRCm39) |
E163G |
probably damaging |
Het |
| 4921513D11Rik |
A |
G |
17: 79,935,562 (GRCm39) |
|
probably benign |
Het |
| Acox3 |
T |
A |
5: 35,749,459 (GRCm39) |
F195I |
possibly damaging |
Het |
| Acsl6 |
T |
C |
11: 54,216,417 (GRCm39) |
Y135H |
probably damaging |
Het |
| Ankhd1 |
C |
A |
18: 36,781,083 (GRCm39) |
A2045E |
probably benign |
Het |
| Ap5z1 |
A |
G |
5: 142,458,096 (GRCm39) |
H423R |
probably benign |
Het |
| Arsk |
T |
A |
13: 76,214,985 (GRCm39) |
|
probably benign |
Het |
| Bpi |
G |
A |
2: 158,103,083 (GRCm39) |
G76D |
probably damaging |
Het |
| Carmil3 |
A |
G |
14: 55,739,861 (GRCm39) |
T983A |
probably damaging |
Het |
| Ccdc192 |
A |
T |
18: 57,666,959 (GRCm39) |
D12V |
probably damaging |
Het |
| Chmp2b |
A |
T |
16: 65,342,213 (GRCm39) |
M125K |
possibly damaging |
Het |
| Clca3a2 |
T |
A |
3: 144,511,491 (GRCm39) |
I26L |
probably damaging |
Het |
| Cubn |
T |
C |
2: 13,315,337 (GRCm39) |
Y3032C |
probably damaging |
Het |
| Ehbp1 |
T |
A |
11: 22,101,850 (GRCm39) |
D226V |
probably damaging |
Het |
| Enpp6 |
A |
T |
8: 47,535,541 (GRCm39) |
D362V |
probably damaging |
Het |
| Fam53b |
A |
G |
7: 132,317,521 (GRCm39) |
S374P |
probably damaging |
Het |
| Fmn1 |
T |
C |
2: 113,260,066 (GRCm39) |
|
probably benign |
Het |
| Fndc7 |
C |
T |
3: 108,784,003 (GRCm39) |
R202H |
probably benign |
Het |
| Frmd4b |
T |
G |
6: 97,265,415 (GRCm39) |
D951A |
probably benign |
Het |
| Git2 |
A |
G |
5: 114,877,162 (GRCm39) |
Y107H |
probably damaging |
Het |
| Gm11595 |
A |
T |
11: 99,663,365 (GRCm39) |
V105E |
unknown |
Het |
| Krt26 |
CTAGTA |
CTA |
11: 99,224,352 (GRCm39) |
|
probably benign |
Het |
| Lrriq4 |
C |
A |
3: 30,713,242 (GRCm39) |
Q448K |
probably benign |
Het |
| Ly6g5c |
A |
G |
17: 35,330,863 (GRCm39) |
I128M |
possibly damaging |
Het |
| Mroh9 |
T |
A |
1: 162,903,860 (GRCm39) |
S51C |
probably damaging |
Het |
| Myh3 |
A |
G |
11: 66,970,828 (GRCm39) |
S2G |
probably benign |
Het |
| Nat8f4 |
A |
G |
6: 85,878,497 (GRCm39) |
Y9H |
probably damaging |
Het |
| Negr1 |
T |
C |
3: 156,267,836 (GRCm39) |
V2A |
probably benign |
Het |
| Or2y1 |
C |
T |
11: 49,386,131 (GRCm39) |
T257I |
probably damaging |
Het |
| Or7g19 |
C |
T |
9: 18,856,781 (GRCm39) |
T279I |
probably benign |
Het |
| Or8k32 |
T |
G |
2: 86,368,857 (GRCm39) |
Y132S |
probably damaging |
Het |
| Otog |
G |
A |
7: 45,895,707 (GRCm39) |
C107Y |
probably damaging |
Het |
| Pdgfra |
C |
A |
5: 75,324,394 (GRCm39) |
T83K |
probably benign |
Het |
| Pdlim2 |
C |
T |
14: 70,402,228 (GRCm39) |
R296H |
probably damaging |
Het |
| Retreg1 |
A |
G |
15: 25,969,924 (GRCm39) |
D109G |
probably damaging |
Het |
| Rgs12 |
T |
A |
5: 35,189,613 (GRCm39) |
W674R |
probably damaging |
Het |
| Rgs18 |
T |
C |
1: 144,631,818 (GRCm39) |
D98G |
possibly damaging |
Het |
| Rnf146 |
A |
G |
10: 29,223,715 (GRCm39) |
F57S |
probably damaging |
Het |
| Skic3 |
T |
A |
13: 76,282,889 (GRCm39) |
V737D |
probably damaging |
Het |
| Slc22a20 |
C |
A |
19: 6,021,464 (GRCm39) |
V513L |
probably benign |
Het |
| Stox2 |
G |
T |
8: 47,646,661 (GRCm39) |
F266L |
probably damaging |
Het |
| Tbx21 |
C |
T |
11: 96,990,863 (GRCm39) |
V272M |
probably damaging |
Het |
| Tmem236 |
T |
C |
2: 14,224,117 (GRCm39) |
I302T |
probably damaging |
Het |
| Tns2 |
C |
T |
15: 102,017,369 (GRCm39) |
R281C |
probably damaging |
Het |
| Trpm3 |
T |
C |
19: 22,862,776 (GRCm39) |
L506S |
probably damaging |
Het |
| Uggt1 |
T |
C |
1: 36,218,694 (GRCm39) |
I78V |
probably damaging |
Het |
| Xpo4 |
A |
T |
14: 57,828,328 (GRCm39) |
V844D |
probably damaging |
Het |
| Zfp507 |
C |
T |
7: 35,493,150 (GRCm39) |
R631Q |
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 |
|
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 |
|
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'- GGCCTTTAAACACGTGAGC -3'
(R):5'- CCATGGAAATGACCTTGGTTGG -3'
Sequencing Primer
(F):5'- CTTTAAACACGTGAGCTCCAGATGG -3'
(R):5'- CTCTTGTAGAGTCAGGTAAGAATGC -3'
|
| Posted On |
2014-07-14 |
Incidental Mutation