Incidental Mutation 'R6436:Tmc3'
ID |
518776 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc3
|
Ensembl Gene |
ENSMUSG00000038540 |
Gene Name |
transmembrane channel-like gene family 3 |
Synonyms |
|
MMRRC Submission |
044574-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6436 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
7 |
Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 83247695 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 230
(Y230H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000130348
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000039317]
[ENSMUST00000164944]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000039317
AA Change: Y230H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046028 Gene: ENSMUSG00000038540 AA Change: Y230H
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 damaging
Transcript: ENSMUST00000164944
AA Change: Y230H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130348 Gene: ENSMUSG00000038540 AA Change: Y230H
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 |
0.6312 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.7%
- 10x: 98.1%
- 20x: 93.5%
|
Validation Efficiency |
100% (33/33) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Arc |
C |
A |
15: 74,544,098 (GRCm39) |
V42L |
possibly damaging |
Het |
Clip1 |
C |
T |
5: 123,779,848 (GRCm39) |
E433K |
probably damaging |
Het |
Cmya5 |
T |
C |
13: 93,225,723 (GRCm39) |
T3122A |
probably damaging |
Het |
Ctf2 |
G |
T |
7: 127,318,603 (GRCm39) |
A92E |
probably damaging |
Het |
Ctsw |
G |
T |
19: 5,516,322 (GRCm39) |
R184S |
possibly damaging |
Het |
D130043K22Rik |
A |
G |
13: 25,061,918 (GRCm39) |
E629G |
probably damaging |
Het |
Dmbt1 |
T |
C |
7: 130,718,370 (GRCm39) |
V1523A |
probably benign |
Het |
Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
Fanci |
T |
C |
7: 79,090,446 (GRCm39) |
I982T |
probably benign |
Het |
Fnbp1 |
T |
C |
2: 30,986,139 (GRCm39) |
D3G |
probably damaging |
Het |
Gm10770 |
G |
A |
2: 150,020,830 (GRCm39) |
T229I |
probably benign |
Het |
Gm35315 |
G |
A |
5: 110,226,578 (GRCm39) |
T287I |
probably benign |
Het |
Itgb3 |
T |
A |
11: 104,524,318 (GRCm39) |
D151E |
probably damaging |
Het |
Lcn8 |
A |
T |
2: 25,544,990 (GRCm39) |
|
probably null |
Het |
Ninl |
A |
G |
2: 150,808,098 (GRCm39) |
L310P |
probably damaging |
Het |
Nop2 |
A |
G |
6: 125,114,274 (GRCm39) |
D215G |
probably benign |
Het |
Or4d10c |
T |
C |
19: 12,065,299 (GRCm39) |
T286A |
probably benign |
Het |
Or6c3 |
A |
G |
10: 129,308,773 (GRCm39) |
T71A |
probably damaging |
Het |
Parg |
T |
C |
14: 31,993,634 (GRCm39) |
W289R |
probably damaging |
Het |
Pdcd4 |
A |
G |
19: 53,915,362 (GRCm39) |
|
probably null |
Het |
Plk2 |
G |
T |
13: 110,532,570 (GRCm39) |
E95* |
probably null |
Het |
Pold1 |
G |
A |
7: 44,188,202 (GRCm39) |
R559C |
probably damaging |
Het |
Ptprc |
T |
C |
1: 138,011,377 (GRCm39) |
D560G |
possibly damaging |
Het |
Rasal3 |
T |
C |
17: 32,616,478 (GRCm39) |
Y290C |
probably damaging |
Het |
Rcsd1 |
T |
A |
1: 165,485,184 (GRCm39) |
S90C |
probably damaging |
Het |
Rttn |
T |
C |
18: 89,128,853 (GRCm39) |
L1935P |
probably damaging |
Het |
Smc1b |
C |
T |
15: 84,976,232 (GRCm39) |
R825Q |
probably benign |
Het |
Srsf11 |
C |
T |
3: 157,728,981 (GRCm39) |
|
probably benign |
Homo |
Tnfrsf25 |
A |
T |
4: 152,204,084 (GRCm39) |
|
probably null |
Het |
Ubl7 |
T |
C |
9: 57,827,793 (GRCm39) |
L160P |
probably damaging |
Het |
Vmn2r106 |
C |
T |
17: 20,488,725 (GRCm39) |
C558Y |
probably damaging |
Het |
Zfp646 |
T |
A |
7: 127,479,113 (GRCm39) |
V430E |
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 |
|
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 |
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 |
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'- CTGACTACACCCAGACCTTG -3'
(R):5'- TCAGCATACAGTAAGTGCTGG -3'
Sequencing Primer
(F):5'- CCTTGCGGGAGAGCTGAAG -3'
(R):5'- CATACAGTAAGTGCTGGCTAAAC -3'
|
Posted On |
2018-05-24 |