Incidental Mutation 'IGL02158:Tmc7'
ID |
282307 |
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 # |
IGL02158
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
118135064-118183959 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 118137434 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Cysteine
at position 703
(R703C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000046927
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032887]
[ENSMUST00000044195]
[ENSMUST00000098090]
[ENSMUST00000209146]
|
AlphaFold |
Q8C428 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000032887
|
SMART Domains |
Protein: ENSMUSP00000032887 Gene: ENSMUSG00000030652
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
Pfam:COQ7
|
48 |
217 |
3.5e-78 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000044195
AA Change: R703C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000046927 Gene: ENSMUSG00000042246 AA Change: R703C
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 |
probably benign
Transcript: ENSMUST00000098090
|
SMART Domains |
Protein: ENSMUSP00000095695 Gene: ENSMUSG00000030652
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
10 |
N/A |
INTRINSIC |
Pfam:COQ7
|
48 |
210 |
5.9e-69 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000127700
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000209146
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 54 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017B05Rik |
A |
T |
9: 57,163,902 (GRCm39) |
|
probably null |
Het |
Abca2 |
A |
G |
2: 25,337,891 (GRCm39) |
|
probably benign |
Het |
Abcb11 |
A |
T |
2: 69,130,269 (GRCm39) |
S262R |
probably damaging |
Het |
Abhd12 |
T |
A |
2: 150,690,341 (GRCm39) |
Q118L |
probably benign |
Het |
Adam1a |
A |
T |
5: 121,657,034 (GRCm39) |
L753* |
probably null |
Het |
Ahctf1 |
A |
T |
1: 179,607,217 (GRCm39) |
I699N |
possibly damaging |
Het |
Arl11 |
C |
A |
14: 61,548,487 (GRCm39) |
A99E |
probably damaging |
Het |
Atp5po |
G |
A |
16: 91,727,289 (GRCm39) |
R16W |
probably damaging |
Het |
AW551984 |
T |
C |
9: 39,510,621 (GRCm39) |
H238R |
probably null |
Het |
Bpifb9a |
C |
A |
2: 154,108,733 (GRCm39) |
|
probably benign |
Het |
Carhsp1 |
A |
G |
16: 8,481,577 (GRCm39) |
|
probably benign |
Het |
Ccdc33 |
T |
C |
9: 57,937,702 (GRCm39) |
D623G |
probably damaging |
Het |
Chd6 |
C |
A |
2: 160,868,212 (GRCm39) |
R378L |
possibly damaging |
Het |
Chn2 |
T |
C |
6: 54,277,230 (GRCm39) |
|
probably benign |
Het |
Clgn |
T |
G |
8: 84,149,765 (GRCm39) |
I422S |
probably damaging |
Het |
Col15a1 |
T |
A |
4: 47,300,606 (GRCm39) |
|
probably null |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Cyp2c39 |
T |
C |
19: 39,556,574 (GRCm39) |
I470T |
probably benign |
Het |
Dcaf11 |
T |
A |
14: 55,801,980 (GRCm39) |
|
probably null |
Het |
Dnah1 |
G |
T |
14: 31,022,924 (GRCm39) |
T1071K |
probably benign |
Het |
Dnah2 |
T |
A |
11: 69,348,949 (GRCm39) |
M2513L |
probably benign |
Het |
Dqx1 |
A |
G |
6: 83,035,891 (GRCm39) |
|
probably benign |
Het |
Gm1587 |
T |
C |
14: 78,036,282 (GRCm39) |
E8G |
unknown |
Het |
Hydin |
T |
C |
8: 111,336,598 (GRCm39) |
I5125T |
possibly damaging |
Het |
Ighv5-9 |
G |
T |
12: 113,625,563 (GRCm39) |
P60Q |
probably damaging |
Het |
Itga7 |
T |
G |
10: 128,789,651 (GRCm39) |
L993R |
possibly damaging |
Het |
Itpr3 |
A |
G |
17: 27,317,416 (GRCm39) |
N857S |
probably damaging |
Het |
Krt23 |
C |
T |
11: 99,383,490 (GRCm39) |
|
probably benign |
Het |
Lrp1 |
T |
C |
10: 127,390,140 (GRCm39) |
N3093S |
probably benign |
Het |
Mms22l |
T |
C |
4: 24,505,349 (GRCm39) |
F203S |
probably damaging |
Het |
Morn5 |
A |
G |
2: 35,947,088 (GRCm39) |
D122G |
probably damaging |
Het |
Mpp2 |
G |
T |
11: 101,954,088 (GRCm39) |
L220I |
probably benign |
Het |
Mrgpra6 |
A |
T |
7: 46,835,700 (GRCm39) |
Y240* |
probably null |
Het |
Mtmr12 |
T |
C |
15: 12,238,016 (GRCm39) |
I165T |
probably damaging |
Het |
Mylk2 |
C |
A |
2: 152,761,077 (GRCm39) |
N428K |
probably damaging |
Het |
Nfil3 |
A |
G |
13: 53,122,188 (GRCm39) |
Y239H |
probably damaging |
Het |
Notch1 |
A |
G |
2: 26,350,351 (GRCm39) |
L2263P |
probably damaging |
Het |
Or2g7 |
T |
A |
17: 38,378,158 (GRCm39) |
I32N |
probably damaging |
Het |
Or8b101 |
A |
G |
9: 38,020,425 (GRCm39) |
M148V |
probably benign |
Het |
P3h3 |
A |
T |
6: 124,830,055 (GRCm39) |
Y387N |
probably damaging |
Het |
Pdcd6ip |
A |
T |
9: 113,509,121 (GRCm39) |
Y324* |
probably null |
Het |
Plcb2 |
C |
A |
2: 118,541,844 (GRCm39) |
R922L |
probably benign |
Het |
Pml |
T |
C |
9: 58,154,286 (GRCm39) |
T196A |
probably benign |
Het |
Ppp2r1b |
C |
A |
9: 50,772,909 (GRCm39) |
Q65K |
probably benign |
Het |
Ric8a |
A |
G |
7: 140,442,270 (GRCm39) |
T507A |
probably benign |
Het |
Sec16a |
A |
G |
2: 26,306,644 (GRCm39) |
|
probably null |
Het |
Slc46a3 |
G |
T |
5: 147,823,044 (GRCm39) |
T266N |
probably damaging |
Het |
Smg1 |
A |
G |
7: 117,812,169 (GRCm39) |
S41P |
possibly damaging |
Het |
Snrnp200 |
T |
A |
2: 127,079,403 (GRCm39) |
N1837K |
probably benign |
Het |
Sptan1 |
A |
G |
2: 29,920,336 (GRCm39) |
T2318A |
probably damaging |
Het |
St7l |
C |
T |
3: 104,782,148 (GRCm39) |
T175I |
possibly damaging |
Het |
Urah |
A |
G |
7: 140,416,799 (GRCm39) |
|
probably benign |
Het |
Vmn1r42 |
A |
T |
6: 89,822,296 (GRCm39) |
I91N |
probably damaging |
Het |
Yy1 |
T |
A |
12: 108,780,525 (GRCm39) |
|
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 |
|
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 |
2015-04-16 |