Incidental Mutation 'R0478:Tmc3'
| ID |
43201 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc3
|
| Ensembl Gene |
ENSMUSG00000038540 |
| Gene Name |
transmembrane channel-like gene family 3 |
| Synonyms |
|
| MMRRC Submission |
038678-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0478 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 83271360 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Serine
at position 837
(R837S)
|
| 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: R866S
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: R866S
| 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: R837S
PolyPhen 2
Score 0.660 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: R837S
| 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
|
| Meta Mutation Damage Score |
0.1417 |
| Coding Region Coverage |
- 1x: 99.7%
- 3x: 99.0%
- 10x: 97.2%
- 20x: 94.9%
|
| Validation Efficiency |
100% (49/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930432E11Rik |
A |
T |
7: 29,262,014 (GRCm39) |
|
noncoding transcript |
Het |
| 4930556J24Rik |
T |
G |
11: 3,926,259 (GRCm39) |
|
probably benign |
Het |
| Acnat1 |
T |
G |
4: 49,450,901 (GRCm39) |
D70A |
probably damaging |
Het |
| Adnp2 |
A |
G |
18: 80,172,549 (GRCm39) |
V620A |
probably benign |
Het |
| Aldoart1 |
T |
A |
4: 72,770,580 (GRCm39) |
H21L |
probably benign |
Het |
| Birc2 |
A |
G |
9: 7,860,348 (GRCm39) |
V290A |
probably damaging |
Het |
| Bpifb3 |
C |
T |
2: 153,773,400 (GRCm39) |
|
probably benign |
Het |
| Camta1 |
C |
A |
4: 151,159,597 (GRCm39) |
R1614L |
probably damaging |
Het |
| Clmn |
A |
G |
12: 104,751,750 (GRCm39) |
M235T |
probably damaging |
Het |
| Dmbt1 |
A |
G |
7: 130,642,917 (GRCm39) |
E245G |
possibly damaging |
Het |
| Epgn |
G |
T |
5: 91,178,987 (GRCm39) |
V36L |
probably benign |
Het |
| Ets2 |
C |
A |
16: 95,517,306 (GRCm39) |
P346Q |
probably damaging |
Het |
| Fam222b |
T |
C |
11: 78,044,682 (GRCm39) |
L81P |
probably damaging |
Het |
| Fancf |
A |
C |
7: 51,511,440 (GRCm39) |
L188R |
probably damaging |
Het |
| Fibin |
T |
C |
2: 110,193,079 (GRCm39) |
D21G |
possibly damaging |
Het |
| Fzd6 |
A |
G |
15: 38,897,429 (GRCm39) |
|
probably null |
Het |
| Gbp4 |
T |
A |
5: 105,267,299 (GRCm39) |
Q540L |
probably benign |
Het |
| Greb1l |
T |
A |
18: 10,509,281 (GRCm39) |
L531Q |
probably damaging |
Het |
| Il5ra |
A |
G |
6: 106,715,423 (GRCm39) |
V137A |
probably benign |
Het |
| Kif26a |
G |
A |
12: 112,142,223 (GRCm39) |
A826T |
probably damaging |
Het |
| Kiz |
T |
C |
2: 146,784,078 (GRCm39) |
V537A |
possibly damaging |
Het |
| Klhl32 |
C |
T |
4: 24,792,777 (GRCm39) |
G15D |
probably damaging |
Het |
| Kmt2d |
G |
A |
15: 98,751,462 (GRCm39) |
|
probably benign |
Het |
| Lbp |
T |
C |
2: 158,159,448 (GRCm39) |
|
probably benign |
Het |
| Mmp25 |
T |
C |
17: 23,851,756 (GRCm39) |
T318A |
probably benign |
Het |
| Mrpl50 |
A |
G |
4: 49,514,513 (GRCm39) |
C53R |
probably damaging |
Het |
| Msl3l2 |
G |
C |
10: 55,991,411 (GRCm39) |
E45D |
probably damaging |
Het |
| Nfxl1 |
A |
G |
5: 72,681,988 (GRCm39) |
|
probably null |
Het |
| Noc3l |
A |
G |
19: 38,798,450 (GRCm39) |
|
probably null |
Het |
| Or12e7 |
T |
A |
2: 87,288,370 (GRCm39) |
V287E |
probably damaging |
Het |
| Or1x6 |
T |
C |
11: 50,939,539 (GRCm39) |
S202P |
probably benign |
Het |
| Pgm5 |
A |
T |
19: 24,812,233 (GRCm39) |
S100T |
possibly damaging |
Het |
| Pi4ka |
C |
T |
16: 17,127,175 (GRCm39) |
G1093S |
possibly damaging |
Het |
| Pitrm1 |
T |
A |
13: 6,609,431 (GRCm39) |
S350T |
probably damaging |
Het |
| Ptk2b |
G |
T |
14: 66,450,821 (GRCm39) |
N48K |
probably damaging |
Het |
| Septin3 |
T |
C |
15: 82,175,007 (GRCm39) |
L172P |
probably damaging |
Het |
| Sirt3 |
A |
T |
7: 140,458,027 (GRCm39) |
C41S |
|
Het |
| Sphkap |
C |
T |
1: 83,256,432 (GRCm39) |
R152H |
probably damaging |
Het |
| St3gal1 |
T |
C |
15: 66,985,579 (GRCm39) |
Y25C |
probably damaging |
Het |
| Tbc1d31 |
T |
C |
15: 57,795,932 (GRCm39) |
F175S |
probably damaging |
Het |
| Tfdp2 |
T |
A |
9: 96,172,636 (GRCm39) |
D43E |
probably benign |
Het |
| Tgm1 |
G |
A |
14: 55,937,791 (GRCm39) |
Q773* |
probably null |
Het |
| Unc13a |
A |
G |
8: 72,103,792 (GRCm39) |
V880A |
possibly damaging |
Het |
| Vmn1r237 |
T |
A |
17: 21,535,081 (GRCm39) |
V268E |
probably damaging |
Het |
| Zan |
C |
T |
5: 137,398,788 (GRCm39) |
|
probably benign |
Het |
| Zfp760 |
G |
T |
17: 21,940,995 (GRCm39) |
E57* |
probably null |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGCACCCTCATAGAGAGTGTCATCC -3'
(R):5'- TGACCACTGGACCAAATCTCTCCTG -3'
Sequencing Primer
(F):5'- ctcatagagagtgtcatcccttatc -3'
(R):5'- GGGGTACAGCTCTACAATGTCAC -3'
|
| Posted On |
2013-05-23 |
Incidental Mutation