Incidental Mutation 'R6642:Tmc7'
| ID |
525852 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc7
|
| Ensembl Gene |
ENSMUSG00000042246 |
| Gene Name |
transmembrane channel-like gene family 7 |
| Synonyms |
1700030H01Rik, C630024K23Rik |
| MMRRC Submission |
044763-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6642 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
A to T
at 118144834 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Stop codon
at position 575
(Y575*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044195]
|
| AlphaFold |
Q8C428 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000044195
AA Change: Y575*
|
| SMART Domains |
Protein: ENSMUSP00000046927
Gene: ENSMUSG00000042246
AA Change: Y575*
| 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: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
100% (35/35) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 6820408C15Rik |
T |
A |
2: 152,282,790 (GRCm39) |
V215D |
probably damaging |
Het |
| Ablim1 |
A |
G |
19: 57,119,284 (GRCm39) |
S267P |
probably benign |
Het |
| Adcy2 |
C |
T |
13: 68,768,945 (GRCm39) |
C1061Y |
probably damaging |
Het |
| Aip |
C |
A |
19: 4,165,149 (GRCm39) |
C240F |
probably damaging |
Het |
| Aldh1a2 |
A |
T |
9: 71,160,268 (GRCm39) |
D98V |
probably damaging |
Het |
| Arhgef40 |
T |
C |
14: 52,228,419 (GRCm39) |
|
probably benign |
Het |
| Cplx2 |
G |
T |
13: 54,526,736 (GRCm39) |
R48L |
probably damaging |
Het |
| Ctrl |
C |
T |
8: 106,659,451 (GRCm39) |
|
probably null |
Het |
| Dnhd1 |
A |
G |
7: 105,353,006 (GRCm39) |
T2720A |
probably benign |
Het |
| Fzd1 |
A |
G |
5: 4,805,696 (GRCm39) |
Y629H |
probably damaging |
Het |
| Gins1 |
T |
C |
2: 150,770,038 (GRCm39) |
|
probably null |
Het |
| Gpr149 |
C |
T |
3: 62,437,995 (GRCm39) |
A721T |
probably damaging |
Het |
| Helb |
A |
T |
10: 119,920,835 (GRCm39) |
M1036K |
probably benign |
Het |
| Il16 |
A |
G |
7: 83,337,335 (GRCm39) |
F127L |
probably benign |
Het |
| Kctd20 |
A |
T |
17: 29,180,640 (GRCm39) |
H138L |
probably damaging |
Het |
| Kctd9 |
T |
A |
14: 67,962,122 (GRCm39) |
L55* |
probably null |
Het |
| Marf1 |
C |
T |
16: 13,950,611 (GRCm39) |
R925H |
probably benign |
Het |
| Mbip |
A |
T |
12: 56,389,191 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
C |
T |
11: 75,562,461 (GRCm39) |
P918S |
probably benign |
Het |
| Nod1 |
T |
G |
6: 54,925,014 (GRCm39) |
D99A |
probably damaging |
Het |
| Olfm4 |
A |
G |
14: 80,259,107 (GRCm39) |
K419E |
probably damaging |
Het |
| Or6c214 |
A |
T |
10: 129,591,232 (GRCm39) |
L29Q |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,521,845 (GRCm39) |
D137G |
probably benign |
Het |
| Prdm4 |
T |
C |
10: 85,743,682 (GRCm39) |
E191G |
probably benign |
Het |
| Rassf10 |
A |
T |
7: 112,554,784 (GRCm39) |
T462S |
probably benign |
Het |
| Rundc3b |
A |
T |
5: 8,629,071 (GRCm39) |
I110N |
probably damaging |
Het |
| Sgsm3 |
C |
T |
15: 80,893,901 (GRCm39) |
R479C |
probably damaging |
Het |
| Trim33 |
T |
C |
3: 103,244,830 (GRCm39) |
L310S |
probably damaging |
Het |
| Trpm2 |
C |
T |
10: 77,773,660 (GRCm39) |
R585Q |
probably benign |
Het |
| Ttn |
T |
C |
2: 76,565,740 (GRCm39) |
E28204G |
probably damaging |
Het |
| Vmn1r233 |
A |
T |
17: 21,214,002 (GRCm39) |
L316Q |
probably damaging |
Het |
| Vmn2r110 |
A |
T |
17: 20,803,779 (GRCm39) |
N265K |
possibly damaging |
Het |
| Xylb |
A |
G |
9: 119,196,559 (GRCm39) |
H114R |
probably damaging |
Het |
| Ywhaz |
T |
C |
15: 36,791,166 (GRCm39) |
Y19C |
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 |
|
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 |
|
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'- TGAAGTCCCTTCCCAGAATATATTC -3'
(R):5'- CCTACTGTGCCTCCTCAAAG -3'
Sequencing Primer
(F):5'- TTCATATTAAGGAAGCCCTGGG -3'
(R):5'- TCAAAGCTGATCCAGTGCTG -3'
|
| Posted On |
2018-06-22 |
Incidental Mutation