Incidental Mutation 'IGL03303:Tmc3'
ID |
416319 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmc3
|
Ensembl Gene |
ENSMUSG00000038540 |
Gene Name |
transmembrane channel-like gene family 3 |
Synonyms |
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
IGL03303
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
A to G
at 83239933 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039317]
[ENSMUST00000164944]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000039317
|
SMART Domains |
Protein: ENSMUSP00000046028 Gene: ENSMUSG00000038540
Domain | Start | End | E-Value | Type |
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
214 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
transmembrane domain
|
362 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
396 |
415 |
N/A |
INTRINSIC |
Pfam:TMC
|
500 |
615 |
5e-42 |
PFAM |
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
low complexity region
|
1071 |
1089 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163297
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000164944
|
SMART Domains |
Protein: ENSMUSP00000130348 Gene: ENSMUSG00000038540
Domain | Start | End | E-Value | Type |
transmembrane domain
|
143 |
165 |
N/A |
INTRINSIC |
transmembrane domain
|
195 |
214 |
N/A |
INTRINSIC |
transmembrane domain
|
227 |
246 |
N/A |
INTRINSIC |
transmembrane domain
|
319 |
341 |
N/A |
INTRINSIC |
transmembrane domain
|
362 |
381 |
N/A |
INTRINSIC |
transmembrane domain
|
396 |
415 |
N/A |
INTRINSIC |
Pfam:TMC
|
500 |
615 |
1.1e-45 |
PFAM |
transmembrane domain
|
620 |
642 |
N/A |
INTRINSIC |
transmembrane domain
|
679 |
701 |
N/A |
INTRINSIC |
low complexity region
|
1042 |
1060 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165388
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A2m |
T |
A |
6: 121,644,122 (GRCm39) |
V940E |
probably damaging |
Het |
Agap1 |
T |
A |
1: 89,592,874 (GRCm39) |
V307D |
probably damaging |
Het |
Amd1 |
A |
G |
10: 40,166,121 (GRCm39) |
V286A |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 36,924,226 (GRCm39) |
E17G |
possibly damaging |
Het |
Chrne |
T |
C |
11: 70,505,926 (GRCm39) |
K453R |
possibly damaging |
Het |
Ckm |
T |
A |
7: 19,148,263 (GRCm39) |
|
probably benign |
Het |
Ckmt1 |
A |
G |
2: 121,190,486 (GRCm39) |
T138A |
probably benign |
Het |
Cldn4 |
A |
G |
5: 134,975,103 (GRCm39) |
V166A |
possibly damaging |
Het |
Dclre1a |
T |
C |
19: 56,535,198 (GRCm39) |
T129A |
possibly damaging |
Het |
Dlgap2 |
T |
A |
8: 14,777,812 (GRCm39) |
D352E |
probably damaging |
Het |
Dnmt1 |
A |
G |
9: 20,838,006 (GRCm39) |
I236T |
probably benign |
Het |
Enam |
G |
T |
5: 88,652,450 (GRCm39) |
V1320L |
probably benign |
Het |
Ezh1 |
A |
C |
11: 101,086,497 (GRCm39) |
|
probably null |
Het |
F13b |
A |
T |
1: 139,440,774 (GRCm39) |
D410V |
possibly damaging |
Het |
Fcrl6 |
A |
T |
1: 172,425,255 (GRCm39) |
Y259N |
probably damaging |
Het |
Fpr-rs7 |
A |
T |
17: 20,334,001 (GRCm39) |
F163Y |
possibly damaging |
Het |
Gpihbp1 |
C |
T |
15: 75,469,827 (GRCm39) |
Q181* |
probably null |
Het |
Htr2b |
T |
C |
1: 86,027,061 (GRCm39) |
|
probably benign |
Het |
Igkv1-35 |
A |
G |
6: 69,988,635 (GRCm39) |
I8T |
probably benign |
Het |
Kcnq2 |
T |
C |
2: 180,724,182 (GRCm39) |
T584A |
probably benign |
Het |
Khdrbs3 |
A |
G |
15: 68,896,672 (GRCm39) |
T111A |
probably benign |
Het |
Krtap29-1 |
A |
T |
11: 99,869,669 (GRCm39) |
C71S |
probably benign |
Het |
Lrrc4c |
A |
T |
2: 97,459,937 (GRCm39) |
I188F |
probably damaging |
Het |
Med1 |
G |
T |
11: 98,049,178 (GRCm39) |
N539K |
probably damaging |
Het |
Mga |
T |
A |
2: 119,733,933 (GRCm39) |
D260E |
probably damaging |
Het |
Mnd1 |
A |
G |
3: 84,012,244 (GRCm39) |
I155T |
probably benign |
Het |
Msrb3 |
T |
C |
10: 120,620,046 (GRCm39) |
D91G |
probably benign |
Het |
Mycbp2 |
A |
T |
14: 103,485,194 (GRCm39) |
D1102E |
probably damaging |
Het |
Nfx1 |
T |
A |
4: 41,004,323 (GRCm39) |
|
probably benign |
Het |
Nrsn2 |
T |
C |
2: 152,216,131 (GRCm39) |
D24G |
possibly damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,810 (GRCm39) |
K20I |
possibly damaging |
Het |
Osmr |
T |
A |
15: 6,872,289 (GRCm39) |
R268S |
probably benign |
Het |
Pelo |
C |
A |
13: 115,225,197 (GRCm39) |
V343L |
probably damaging |
Het |
Rp1 |
T |
A |
1: 4,415,040 (GRCm39) |
N2024I |
probably damaging |
Het |
Rps6ka2 |
C |
T |
17: 7,495,411 (GRCm39) |
Q33* |
probably null |
Het |
Slfn2 |
G |
A |
11: 82,960,293 (GRCm39) |
V91I |
possibly damaging |
Het |
Socs6 |
G |
T |
18: 88,887,868 (GRCm39) |
A349E |
probably damaging |
Het |
Syt2 |
A |
G |
1: 134,669,649 (GRCm39) |
N97D |
probably benign |
Het |
Tas2r123 |
T |
A |
6: 132,824,401 (GRCm39) |
H99Q |
probably damaging |
Het |
Ube2s |
A |
T |
7: 4,813,476 (GRCm39) |
V35D |
probably damaging |
Het |
Usp32 |
A |
T |
11: 84,913,658 (GRCm39) |
V891D |
probably damaging |
Het |
Vmn1r169 |
A |
T |
7: 23,277,434 (GRCm39) |
E275D |
probably benign |
Het |
Vps13c |
A |
G |
9: 67,841,786 (GRCm39) |
H1936R |
probably benign |
Het |
Wrap73 |
C |
A |
4: 154,231,000 (GRCm39) |
A92E |
probably damaging |
Het |
Zfhx4 |
C |
T |
3: 5,468,410 (GRCm39) |
T2856M |
probably damaging |
Het |
Zmym1 |
A |
T |
4: 126,942,927 (GRCm39) |
I487N |
probably damaging |
Het |
|
Other mutations in Tmc3 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00577:Tmc3
|
APN |
7 |
83,252,682 (GRCm39) |
missense |
probably null |
1.00 |
IGL01372:Tmc3
|
APN |
7 |
83,261,746 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02072:Tmc3
|
APN |
7 |
83,265,148 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02168:Tmc3
|
APN |
7 |
83,269,203 (GRCm39) |
missense |
possibly damaging |
0.87 |
IGL02344:Tmc3
|
APN |
7 |
83,258,302 (GRCm39) |
missense |
probably benign |
0.00 |
IGL02421:Tmc3
|
APN |
7 |
83,271,952 (GRCm39) |
missense |
probably benign |
|
IGL02604:Tmc3
|
APN |
7 |
83,271,827 (GRCm39) |
missense |
possibly damaging |
0.85 |
IGL02863:Tmc3
|
APN |
7 |
83,271,493 (GRCm39) |
missense |
possibly damaging |
0.61 |
IGL02863:Tmc3
|
APN |
7 |
83,271,494 (GRCm39) |
missense |
probably benign |
0.04 |
IGL03058:Tmc3
|
APN |
7 |
83,265,094 (GRCm39) |
missense |
possibly damaging |
0.91 |
F5770:Tmc3
|
UTSW |
7 |
83,271,713 (GRCm39) |
missense |
probably benign |
0.01 |
R0133:Tmc3
|
UTSW |
7 |
83,261,681 (GRCm39) |
missense |
probably damaging |
1.00 |
R0147:Tmc3
|
UTSW |
7 |
83,256,950 (GRCm39) |
missense |
probably damaging |
1.00 |
R0304:Tmc3
|
UTSW |
7 |
83,245,347 (GRCm39) |
missense |
probably damaging |
1.00 |
R0320:Tmc3
|
UTSW |
7 |
83,257,027 (GRCm39) |
splice site |
probably benign |
|
R0478:Tmc3
|
UTSW |
7 |
83,271,360 (GRCm39) |
missense |
possibly damaging |
0.66 |
R0714:Tmc3
|
UTSW |
7 |
83,265,969 (GRCm39) |
missense |
possibly damaging |
0.94 |
R1471:Tmc3
|
UTSW |
7 |
83,247,498 (GRCm39) |
missense |
probably damaging |
1.00 |
R1725:Tmc3
|
UTSW |
7 |
83,253,940 (GRCm39) |
missense |
probably damaging |
1.00 |
R1775:Tmc3
|
UTSW |
7 |
83,261,740 (GRCm39) |
missense |
probably benign |
0.39 |
R2176:Tmc3
|
UTSW |
7 |
83,258,516 (GRCm39) |
missense |
probably damaging |
1.00 |
R4001:Tmc3
|
UTSW |
7 |
83,269,271 (GRCm39) |
missense |
probably benign |
0.01 |
R4229:Tmc3
|
UTSW |
7 |
83,246,610 (GRCm39) |
intron |
probably benign |
|
R4635:Tmc3
|
UTSW |
7 |
83,234,290 (GRCm39) |
unclassified |
probably benign |
|
R4715:Tmc3
|
UTSW |
7 |
83,271,604 (GRCm39) |
missense |
probably benign |
0.05 |
R4789:Tmc3
|
UTSW |
7 |
83,271,746 (GRCm39) |
missense |
probably damaging |
0.99 |
R4998:Tmc3
|
UTSW |
7 |
83,271,529 (GRCm39) |
missense |
probably benign |
0.16 |
R5044:Tmc3
|
UTSW |
7 |
83,258,326 (GRCm39) |
missense |
probably benign |
0.00 |
R5108:Tmc3
|
UTSW |
7 |
83,269,156 (GRCm39) |
missense |
probably damaging |
0.97 |
R5119:Tmc3
|
UTSW |
7 |
83,264,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R5428:Tmc3
|
UTSW |
7 |
83,261,755 (GRCm39) |
missense |
probably damaging |
1.00 |
R5447:Tmc3
|
UTSW |
7 |
83,271,569 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5767:Tmc3
|
UTSW |
7 |
83,249,190 (GRCm39) |
missense |
probably benign |
0.43 |
R5801:Tmc3
|
UTSW |
7 |
83,271,686 (GRCm39) |
missense |
possibly damaging |
0.94 |
R6115:Tmc3
|
UTSW |
7 |
83,264,170 (GRCm39) |
missense |
possibly damaging |
0.47 |
R6193:Tmc3
|
UTSW |
7 |
83,252,543 (GRCm39) |
missense |
probably benign |
0.26 |
R6436:Tmc3
|
UTSW |
7 |
83,247,695 (GRCm39) |
missense |
probably damaging |
1.00 |
R6478:Tmc3
|
UTSW |
7 |
83,271,524 (GRCm39) |
missense |
probably benign |
0.31 |
R6648:Tmc3
|
UTSW |
7 |
83,246,751 (GRCm39) |
missense |
probably damaging |
1.00 |
R6849:Tmc3
|
UTSW |
7 |
83,235,565 (GRCm39) |
missense |
probably damaging |
1.00 |
R7030:Tmc3
|
UTSW |
7 |
83,266,025 (GRCm39) |
splice site |
probably null |
|
R7085:Tmc3
|
UTSW |
7 |
83,271,353 (GRCm39) |
missense |
possibly damaging |
0.88 |
R7574:Tmc3
|
UTSW |
7 |
83,247,481 (GRCm39) |
missense |
probably damaging |
0.99 |
R7685:Tmc3
|
UTSW |
7 |
83,246,666 (GRCm39) |
missense |
probably damaging |
1.00 |
R7888:Tmc3
|
UTSW |
7 |
83,249,217 (GRCm39) |
missense |
probably damaging |
1.00 |
R8474:Tmc3
|
UTSW |
7 |
83,259,122 (GRCm39) |
missense |
probably damaging |
1.00 |
R8961:Tmc3
|
UTSW |
7 |
83,256,970 (GRCm39) |
missense |
probably damaging |
1.00 |
R9286:Tmc3
|
UTSW |
7 |
83,252,643 (GRCm39) |
missense |
probably damaging |
0.96 |
V7581:Tmc3
|
UTSW |
7 |
83,271,713 (GRCm39) |
missense |
probably benign |
0.01 |
Z1088:Tmc3
|
UTSW |
7 |
83,252,676 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1188:Tmc3
|
UTSW |
7 |
83,261,686 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2016-08-02 |