Incidental Mutation 'R5767:Tmc3'
ID |
446327 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc3
|
Ensembl Gene |
ENSMUSG00000038540 |
Gene Name |
transmembrane channel-like gene family 3 |
Synonyms |
|
MMRRC Submission |
043367-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R5767 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 83249190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Alanine to Threonine
at position 260
(A260T)
|
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
AA Change: A260T
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000046028 Gene: ENSMUSG00000038540 AA Change: A260T
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 |
probably benign
Transcript: ENSMUST00000164944
AA Change: A260T
PolyPhen 2
Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000130348 Gene: ENSMUSG00000038540 AA Change: A260T
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: ENSMUST00000171397
|
Meta Mutation Damage Score |
0.1186 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
98% (52/53) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 46 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actr6 |
A |
T |
10: 89,562,617 (GRCm39) |
D87E |
probably damaging |
Het |
AI429214 |
TCCCTGATGAAC |
TC |
8: 37,461,383 (GRCm39) |
|
probably null |
Het |
Ano3 |
A |
T |
2: 110,491,616 (GRCm39) |
Y887N |
probably damaging |
Het |
Arid4a |
A |
G |
12: 71,106,867 (GRCm39) |
D313G |
probably damaging |
Het |
Armc2 |
A |
G |
10: 41,887,923 (GRCm39) |
V20A |
probably benign |
Het |
Bltp3b |
A |
G |
10: 89,623,061 (GRCm39) |
D312G |
possibly damaging |
Het |
C2 |
T |
A |
17: 35,095,432 (GRCm39) |
N171I |
possibly damaging |
Het |
Cdh1 |
C |
A |
8: 107,395,187 (GRCm39) |
N865K |
probably damaging |
Het |
Cep89 |
T |
A |
7: 35,117,070 (GRCm39) |
V224E |
probably damaging |
Het |
Cfap251 |
G |
A |
5: 123,436,584 (GRCm39) |
V1038I |
probably benign |
Het |
Dennd2d |
C |
T |
3: 106,395,131 (GRCm39) |
|
probably benign |
Het |
Diaph1 |
T |
A |
18: 37,986,408 (GRCm39) |
K1157N |
probably damaging |
Het |
Dsg4 |
T |
A |
18: 20,595,549 (GRCm39) |
L584* |
probably null |
Het |
Exoc4 |
G |
A |
6: 33,895,367 (GRCm39) |
A795T |
probably benign |
Het |
Fbln5 |
A |
T |
12: 101,731,468 (GRCm39) |
I242N |
probably damaging |
Het |
Gls2 |
A |
G |
10: 128,041,090 (GRCm39) |
H394R |
probably damaging |
Het |
Gm27013 |
C |
T |
6: 130,652,921 (GRCm39) |
C847Y |
possibly damaging |
Het |
Ifna5 |
C |
A |
4: 88,754,036 (GRCm39) |
T92K |
possibly damaging |
Het |
Ireb2 |
A |
G |
9: 54,807,800 (GRCm39) |
M674V |
probably benign |
Het |
Itga2 |
C |
T |
13: 114,976,106 (GRCm39) |
V1089M |
possibly damaging |
Het |
Kctd16 |
A |
T |
18: 40,391,922 (GRCm39) |
Y170F |
probably benign |
Het |
Kif15 |
A |
G |
9: 122,843,039 (GRCm39) |
N45D |
possibly damaging |
Het |
Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
Mink1 |
A |
G |
11: 70,496,901 (GRCm39) |
K420E |
possibly damaging |
Het |
Ms4a14 |
G |
T |
19: 11,279,391 (GRCm39) |
Q1056K |
probably benign |
Het |
Or11g1 |
T |
C |
14: 50,651,235 (GRCm39) |
V78A |
possibly damaging |
Het |
Or5k8 |
T |
C |
16: 58,644,316 (GRCm39) |
Y252C |
probably benign |
Het |
Or8k21 |
T |
A |
2: 86,144,742 (GRCm39) |
E296V |
probably damaging |
Het |
Ovch2 |
T |
C |
7: 107,381,185 (GRCm39) |
E571G |
probably benign |
Het |
Pmel |
T |
C |
10: 128,550,250 (GRCm39) |
V95A |
probably damaging |
Het |
Ptger2 |
G |
T |
14: 45,226,599 (GRCm39) |
G60C |
probably benign |
Het |
Ranbp2 |
T |
G |
10: 58,312,647 (GRCm39) |
S1122R |
probably benign |
Het |
Rasal2 |
T |
C |
1: 157,003,732 (GRCm39) |
D309G |
probably damaging |
Het |
Rcc2 |
T |
A |
4: 140,443,230 (GRCm39) |
C303S |
probably damaging |
Het |
Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
Serpini1 |
C |
T |
3: 75,520,388 (GRCm39) |
|
probably benign |
Het |
Sgo2a |
G |
T |
1: 58,058,819 (GRCm39) |
E1133* |
probably null |
Het |
Slc22a30 |
G |
A |
19: 8,321,757 (GRCm39) |
Q436* |
probably null |
Het |
Smarcc1 |
G |
A |
9: 109,961,251 (GRCm39) |
|
probably benign |
Het |
Tbcd |
A |
G |
11: 121,483,518 (GRCm39) |
E749G |
probably benign |
Het |
Tnfrsf21 |
A |
G |
17: 43,348,550 (GRCm39) |
Y54C |
probably damaging |
Het |
Urb1 |
T |
A |
16: 90,573,051 (GRCm39) |
M994L |
probably benign |
Het |
Usp14 |
A |
T |
18: 10,009,935 (GRCm39) |
|
probably benign |
Het |
Vps13a |
T |
C |
19: 16,641,928 (GRCm39) |
Y2233C |
probably damaging |
Het |
Wnt2 |
G |
T |
6: 17,990,027 (GRCm39) |
A290E |
probably damaging |
Het |
Zc3h8 |
A |
T |
2: 128,772,812 (GRCm39) |
C225* |
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 |
|
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 |
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'- ATTTCCACACAGGTAAAGGATGG -3'
(R):5'- GAGAACAGTACTGGTTCTGCC -3'
Sequencing Primer
(F):5'- CTATGGTTAAAGTCCAGCCAGTGC -3'
(R):5'- TGGTTCTGCCAGCAGGG -3'
|
Posted On |
2016-11-21 |