Incidental Mutation 'IGL02604:Tmc3'
| ID |
300198 |
| 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 # |
IGL02604
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
7 |
| Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83271827 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Cysteine
at position 993
(Y993C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130348
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039317]
[ENSMUST00000164944]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000039317
AA Change: Y1022C
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: Y1022C
| 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: ENSMUST00000148687
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000163297
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164944
AA Change: Y993C
PolyPhen 2
Score 0.846 (Sensitivity: 0.83; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: Y993C
| 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: ENSMUST00000208892
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2300002M23Rik |
T |
C |
17: 35,878,845 (GRCm39) |
V61A |
probably benign |
Het |
| Arfgef1 |
G |
A |
1: 10,251,275 (GRCm39) |
|
probably benign |
Het |
| Arhgef4 |
T |
A |
1: 34,850,804 (GRCm39) |
L594* |
probably null |
Het |
| Cacna2d3 |
T |
C |
14: 29,015,066 (GRCm39) |
T375A |
possibly damaging |
Het |
| Calb2 |
A |
C |
8: 110,875,160 (GRCm39) |
Y155D |
probably damaging |
Het |
| Camkmt |
A |
G |
17: 85,404,053 (GRCm39) |
T92A |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,141,921 (GRCm39) |
|
probably benign |
Het |
| Chsy3 |
A |
G |
18: 59,542,187 (GRCm39) |
S442G |
probably benign |
Het |
| Cyp4f13 |
T |
C |
17: 33,151,395 (GRCm39) |
I173V |
probably benign |
Het |
| Dapk1 |
A |
G |
13: 60,896,134 (GRCm39) |
T741A |
probably benign |
Het |
| Dennd3 |
T |
C |
15: 73,428,252 (GRCm39) |
I866T |
probably damaging |
Het |
| Dhrs2 |
A |
T |
14: 55,474,778 (GRCm39) |
I138F |
possibly damaging |
Het |
| Dscaml1 |
C |
T |
9: 45,655,626 (GRCm39) |
|
probably benign |
Het |
| Fsbp |
A |
G |
4: 11,584,147 (GRCm39) |
E282G |
probably damaging |
Het |
| Hpgds |
A |
T |
6: 65,100,594 (GRCm39) |
L128Q |
probably damaging |
Het |
| Hspa9 |
A |
G |
18: 35,087,266 (GRCm39) |
V13A |
unknown |
Het |
| Itgb3 |
A |
G |
11: 104,553,269 (GRCm39) |
E709G |
probably damaging |
Het |
| Jarid2 |
T |
C |
13: 45,027,877 (GRCm39) |
S148P |
probably damaging |
Het |
| Kcna6 |
C |
T |
6: 126,716,167 (GRCm39) |
G241R |
probably benign |
Het |
| Kdm5a |
T |
A |
6: 120,408,941 (GRCm39) |
N1541K |
probably benign |
Het |
| Kel |
C |
A |
6: 41,664,516 (GRCm39) |
E640D |
probably damaging |
Het |
| Lcp1 |
A |
T |
14: 75,461,566 (GRCm39) |
I520F |
probably benign |
Het |
| Lgr4 |
A |
G |
2: 109,841,658 (GRCm39) |
I524V |
probably damaging |
Het |
| Mup20 |
A |
C |
4: 61,970,141 (GRCm39) |
Y139D |
probably damaging |
Het |
| Notch4 |
T |
C |
17: 34,784,362 (GRCm39) |
|
probably null |
Het |
| Obox7 |
A |
G |
7: 14,399,293 (GRCm39) |
E173G |
probably benign |
Het |
| Or10a49 |
T |
A |
7: 108,467,857 (GRCm39) |
Y168F |
probably benign |
Het |
| Or2a25 |
T |
A |
6: 42,888,992 (GRCm39) |
C178* |
probably null |
Het |
| Or5w22 |
A |
T |
2: 87,362,949 (GRCm39) |
T191S |
probably damaging |
Het |
| Or8b40 |
C |
T |
9: 38,027,148 (GRCm39) |
Q19* |
probably null |
Het |
| Or9i1 |
T |
A |
19: 13,839,170 (GRCm39) |
N4K |
probably benign |
Het |
| Patl2 |
T |
G |
2: 121,955,814 (GRCm39) |
T241P |
possibly damaging |
Het |
| Pip5k1c |
C |
A |
10: 81,153,155 (GRCm39) |
|
probably null |
Het |
| Plekhg6 |
T |
C |
6: 125,354,342 (GRCm39) |
|
probably benign |
Het |
| Pon1 |
C |
A |
6: 5,168,375 (GRCm39) |
G344V |
probably damaging |
Het |
| Ppp1r21 |
G |
T |
17: 88,880,171 (GRCm39) |
K529N |
probably benign |
Het |
| Prdm15 |
A |
G |
16: 97,623,142 (GRCm39) |
S203P |
probably benign |
Het |
| Psmc2 |
T |
A |
5: 22,000,098 (GRCm39) |
|
probably null |
Het |
| Ptn |
T |
C |
6: 36,692,653 (GRCm39) |
M166V |
unknown |
Het |
| Ptpn13 |
A |
G |
5: 103,649,769 (GRCm39) |
N391D |
probably benign |
Het |
| Rnf214 |
A |
G |
9: 45,780,841 (GRCm39) |
S383P |
probably damaging |
Het |
| Rufy4 |
T |
A |
1: 74,173,348 (GRCm39) |
L438H |
probably damaging |
Het |
| Scarf2 |
A |
G |
16: 17,621,608 (GRCm39) |
T353A |
probably damaging |
Het |
| Serpinb9e |
A |
C |
13: 33,441,742 (GRCm39) |
I225L |
probably benign |
Het |
| Slc25a40 |
T |
C |
5: 8,503,219 (GRCm39) |
V312A |
probably benign |
Het |
| Trim56 |
A |
C |
5: 137,141,930 (GRCm39) |
C529G |
probably damaging |
Het |
| Trim8 |
T |
C |
19: 46,503,917 (GRCm39) |
S490P |
probably damaging |
Het |
| Trmt6 |
A |
T |
2: 132,652,357 (GRCm39) |
Y147* |
probably null |
Het |
| Vmn2r109 |
T |
A |
17: 20,760,963 (GRCm39) |
H798L |
probably damaging |
Het |
| Vps35 |
A |
G |
8: 86,013,018 (GRCm39) |
L153P |
probably damaging |
Het |
| Wdr82 |
T |
C |
9: 106,060,880 (GRCm39) |
I131T |
probably damaging |
Het |
| Zfp69 |
A |
T |
4: 120,788,660 (GRCm39) |
D218E |
probably benign |
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 |
|
|
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 |
|
IGL03303:Tmc3
|
APN |
7 |
83,239,933 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2015-04-16 |
Incidental Mutation