Incidental Mutation 'R7888:Tmc3'
| ID |
609157 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc3
|
| Ensembl Gene |
ENSMUSG00000038540 |
| Gene Name |
transmembrane channel-like gene family 3 |
| Synonyms |
|
| MMRRC Submission |
045940-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R7888 (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 83249217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tryptophan to Arginine
at position 269
(W269R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000046028
(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: W269R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: W269R
| 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 |
probably damaging
Transcript: ENSMUST00000164944
AA Change: W269R
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: W269R
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
100% (45/45) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acox2 |
G |
T |
14: 8,246,415 (GRCm38) |
Q459K |
probably benign |
Het |
| Ano3 |
T |
A |
2: 110,496,773 (GRCm39) |
Y792F |
probably damaging |
Het |
| Aoc3 |
C |
T |
11: 101,223,323 (GRCm39) |
H520Y |
probably damaging |
Het |
| Atp4b |
A |
G |
8: 13,439,811 (GRCm39) |
F137S |
probably damaging |
Het |
| Blvrb |
A |
G |
7: 27,165,159 (GRCm39) |
T160A |
probably damaging |
Het |
| Brd2 |
G |
A |
17: 34,335,995 (GRCm39) |
R73W |
probably damaging |
Het |
| Btaf1 |
A |
G |
19: 36,943,036 (GRCm39) |
T306A |
probably benign |
Het |
| Ccdc154 |
G |
A |
17: 25,383,578 (GRCm39) |
V212M |
possibly damaging |
Het |
| Ccdc40 |
A |
G |
11: 119,119,967 (GRCm39) |
E3G |
unknown |
Het |
| Cenpb |
T |
A |
2: 131,021,762 (GRCm39) |
E12V |
probably damaging |
Het |
| Cnot8 |
T |
C |
11: 58,002,137 (GRCm39) |
S57P |
probably benign |
Het |
| Cryba4 |
T |
C |
5: 112,398,918 (GRCm39) |
E42G |
probably benign |
Het |
| Fam72a |
T |
A |
1: 131,456,578 (GRCm39) |
I47N |
probably damaging |
Het |
| Gm27027 |
A |
C |
2: 93,787,880 (GRCm39) |
|
probably null |
Het |
| Itgb2 |
T |
C |
10: 77,400,478 (GRCm39) |
V697A |
probably benign |
Het |
| Jakmip1 |
A |
G |
5: 37,262,208 (GRCm39) |
N336D |
probably damaging |
Het |
| Kansl1 |
T |
C |
11: 104,233,248 (GRCm39) |
T760A |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,392,307 (GRCm39) |
E1039D |
probably benign |
Het |
| Meaf6 |
T |
G |
4: 125,003,213 (GRCm39) |
|
probably null |
Het |
| Mpz |
T |
C |
1: 170,987,204 (GRCm39) |
|
probably null |
Het |
| Mtss1 |
A |
T |
15: 58,844,373 (GRCm39) |
M82K |
probably damaging |
Het |
| Myo6 |
T |
C |
9: 80,203,947 (GRCm39) |
S1063P |
probably damaging |
Het |
| Niban2 |
T |
A |
2: 32,812,137 (GRCm39) |
Y406* |
probably null |
Het |
| Nsun6 |
T |
A |
2: 15,001,355 (GRCm39) |
E400D |
probably benign |
Het |
| Or10al5 |
A |
T |
17: 38,062,888 (GRCm39) |
N48Y |
probably damaging |
Het |
| Or1e26 |
T |
C |
11: 73,480,354 (GRCm39) |
D70G |
probably damaging |
Het |
| Or1l4b |
A |
T |
2: 37,036,334 (GRCm39) |
M37L |
probably benign |
Het |
| Or2t26 |
T |
C |
11: 49,039,266 (GRCm39) |
Y61H |
probably damaging |
Het |
| Or52ae7 |
T |
A |
7: 103,120,006 (GRCm39) |
Y253* |
probably null |
Het |
| Or5au1 |
A |
G |
14: 52,273,347 (GRCm39) |
S74P |
probably damaging |
Het |
| Or8j3b |
C |
A |
2: 86,205,270 (GRCm39) |
C162F |
probably benign |
Het |
| Pfdn5 |
T |
A |
15: 102,237,024 (GRCm39) |
V92E |
probably damaging |
Het |
| Pik3c2g |
T |
C |
6: 139,842,470 (GRCm39) |
V801A |
|
Het |
| Psme2b |
T |
A |
11: 48,836,402 (GRCm39) |
T182S |
possibly damaging |
Het |
| Ptcd3 |
G |
A |
6: 71,860,431 (GRCm39) |
A592V |
probably damaging |
Het |
| Rabgap1 |
T |
A |
2: 37,427,319 (GRCm39) |
Y633* |
probably null |
Het |
| Rnf39 |
A |
T |
17: 37,258,133 (GRCm39) |
T222S |
probably damaging |
Het |
| Scnn1g |
A |
G |
7: 121,342,878 (GRCm39) |
N277S |
probably damaging |
Het |
| Slc16a13 |
T |
G |
11: 70,109,806 (GRCm39) |
I232L |
possibly damaging |
Het |
| Slco2b1 |
T |
G |
7: 99,338,050 (GRCm39) |
R111S |
unknown |
Het |
| Sltm |
C |
G |
9: 70,493,955 (GRCm39) |
P802R |
possibly damaging |
Het |
| Vmn2r4 |
T |
C |
3: 64,313,943 (GRCm39) |
E346G |
probably damaging |
Het |
| Vps52 |
A |
G |
17: 34,184,725 (GRCm39) |
N666S |
probably damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,812,920 (GRCm39) |
D1618N |
|
Het |
| Zfp773 |
C |
A |
7: 7,135,978 (GRCm39) |
C206F |
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 |
|
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 |
|
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'- TTCCACACAGGTAAAGGATGGG -3'
(R):5'- CGGAAGAGAACAGTACTGGTTC -3'
Sequencing Primer
(F):5'- TCTGCTTGCCAAATAGGAGC -3'
(R):5'- TGGTTCTGCCAGCAGGG -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation