Incidental Mutation 'R8474:Tmc3'
| ID |
657165 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmc3
|
| Ensembl Gene |
ENSMUSG00000038540 |
| Gene Name |
transmembrane channel-like gene family 3 |
| Synonyms |
|
| MMRRC Submission |
067918-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R8474 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
83234135-83274822 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 83259122 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glutamine
at position 531
(R531Q)
|
| 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: R531Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000046028
Gene: ENSMUSG00000038540
AA Change: R531Q
| 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: R531Q
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130348
Gene: ENSMUSG00000038540
AA Change: R531Q
| 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: 100.0%
- 10x: 99.7%
- 20x: 99.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 58 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adcy8 |
A |
T |
15: 64,576,638 (GRCm39) |
S975T |
probably damaging |
Het |
| Adgrg1 |
C |
G |
8: 95,729,936 (GRCm39) |
T46S |
probably damaging |
Het |
| Akip1 |
T |
A |
7: 109,306,697 (GRCm39) |
D131E |
probably benign |
Het |
| Arhgef39 |
A |
G |
4: 43,498,015 (GRCm39) |
V163A |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,301,433 (GRCm39) |
|
probably null |
Het |
| Bcam |
A |
T |
7: 19,494,325 (GRCm39) |
L357* |
probably null |
Het |
| Bcat2 |
A |
G |
7: 45,237,075 (GRCm39) |
N194S |
probably damaging |
Het |
| Bcl2l14 |
T |
C |
6: 134,400,720 (GRCm39) |
L47P |
probably benign |
Het |
| Cbln1 |
C |
T |
8: 88,198,673 (GRCm39) |
A66T |
possibly damaging |
Het |
| Ccdc191 |
G |
T |
16: 43,710,262 (GRCm39) |
|
probably benign |
Het |
| Cd70 |
C |
T |
17: 57,456,468 (GRCm39) |
S45N |
possibly damaging |
Het |
| Cfap43 |
G |
A |
19: 47,886,363 (GRCm39) |
A84V |
probably benign |
Het |
| Clca3a1 |
T |
A |
3: 144,710,792 (GRCm39) |
N804Y |
possibly damaging |
Het |
| Cmah |
A |
T |
13: 24,601,350 (GRCm39) |
N52I |
probably damaging |
Het |
| Crot |
A |
G |
5: 9,043,518 (GRCm39) |
Y35H |
probably damaging |
Het |
| Cyp3a59 |
C |
A |
5: 146,041,487 (GRCm39) |
P344T |
probably benign |
Het |
| Dnah5 |
A |
G |
15: 28,247,978 (GRCm39) |
E705G |
probably benign |
Het |
| Dnm2 |
A |
G |
9: 21,377,016 (GRCm39) |
Y125C |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,208,266 (GRCm39) |
Y739C |
probably damaging |
Het |
| Eif3a |
A |
T |
19: 60,767,929 (GRCm39) |
M203K |
possibly damaging |
Het |
| Enpep |
C |
T |
3: 129,113,076 (GRCm39) |
V283M |
probably damaging |
Het |
| Ephx3 |
A |
G |
17: 32,407,219 (GRCm39) |
S240P |
probably damaging |
Het |
| Evi5l |
T |
C |
8: 4,260,784 (GRCm39) |
H1011R |
possibly damaging |
Het |
| Fig4 |
A |
T |
10: 41,108,170 (GRCm39) |
F677I |
probably benign |
Het |
| Gramd1b |
A |
G |
9: 40,287,207 (GRCm39) |
|
probably null |
Het |
| Gse1 |
C |
T |
8: 121,295,123 (GRCm39) |
|
probably benign |
Het |
| Hoxa9 |
A |
G |
6: 52,202,506 (GRCm39) |
|
probably null |
Het |
| Ice1 |
A |
T |
13: 70,752,566 (GRCm39) |
S1173R |
probably benign |
Het |
| Ifi207 |
G |
A |
1: 173,556,605 (GRCm39) |
T718I |
possibly damaging |
Het |
| Ifit1bl1 |
A |
G |
19: 34,572,262 (GRCm39) |
L65P |
probably damaging |
Het |
| Impact |
T |
C |
18: 13,107,798 (GRCm39) |
I22T |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,375,572 (GRCm39) |
C4409R |
probably damaging |
Het |
| Mark1 |
A |
G |
1: 184,651,783 (GRCm39) |
W131R |
probably damaging |
Het |
| Mindy3 |
T |
C |
2: 12,404,839 (GRCm39) |
T190A |
probably damaging |
Het |
| Mybbp1a |
A |
G |
11: 72,338,563 (GRCm39) |
D721G |
probably benign |
Het |
| Myo1d |
A |
G |
11: 80,561,745 (GRCm39) |
V466A |
possibly damaging |
Het |
| Myo5b |
A |
C |
18: 74,903,411 (GRCm39) |
D1809A |
probably damaging |
Het |
| Nudcd2 |
C |
T |
11: 40,624,850 (GRCm39) |
Q20* |
probably null |
Het |
| Or4f62 |
T |
C |
2: 111,986,320 (GRCm39) |
M8T |
probably benign |
Het |
| Or5b101 |
A |
G |
19: 13,005,357 (GRCm39) |
L112P |
probably damaging |
Het |
| Or8g2b |
T |
A |
9: 39,751,048 (GRCm39) |
L106H |
possibly damaging |
Het |
| Pcif1 |
A |
T |
2: 164,730,272 (GRCm39) |
D335V |
probably damaging |
Het |
| Pebp4 |
T |
A |
14: 70,085,136 (GRCm39) |
C65S |
possibly damaging |
Het |
| Ptger1 |
C |
T |
8: 84,395,267 (GRCm39) |
A248V |
probably benign |
Het |
| Qki |
A |
T |
17: 10,537,747 (GRCm39) |
M19K |
probably benign |
Het |
| Ralgapa2 |
C |
G |
2: 146,266,750 (GRCm39) |
A609P |
probably damaging |
Het |
| Robo2 |
C |
T |
16: 73,745,150 (GRCm39) |
G875D |
probably damaging |
Het |
| Runx2 |
A |
G |
17: 44,919,147 (GRCm39) |
V375A |
probably damaging |
Het |
| Sis |
A |
T |
3: 72,836,730 (GRCm39) |
F841I |
probably damaging |
Het |
| Slc5a8 |
A |
G |
10: 88,757,552 (GRCm39) |
D514G |
possibly damaging |
Het |
| Spag17 |
A |
T |
3: 99,934,586 (GRCm39) |
T623S |
probably benign |
Het |
| Sppl2c |
A |
G |
11: 104,078,963 (GRCm39) |
S588G |
probably benign |
Het |
| Stxbp6 |
A |
C |
12: 44,949,704 (GRCm39) |
V75G |
possibly damaging |
Het |
| Tmem258 |
T |
C |
19: 10,184,550 (GRCm39) |
Y41H |
probably damaging |
Het |
| Tsks |
A |
T |
7: 44,600,263 (GRCm39) |
T91S |
probably damaging |
Het |
| Vmn2r23 |
T |
C |
6: 123,681,599 (GRCm39) |
V169A |
probably benign |
Het |
| Wdr54 |
T |
C |
6: 83,129,985 (GRCm39) |
N282S |
probably benign |
Het |
| Yme1l1 |
T |
A |
2: 23,052,584 (GRCm39) |
N79K |
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 |
|
R7888:Tmc3
|
UTSW |
7 |
83,249,217 (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'- AACATAAGAGGGCTCCTGGC -3'
(R):5'- ATGTCCAAGGCTCAGAAGGG -3'
Sequencing Primer
(F):5'- TCTGGCTCCATGGAAGGGAC -3'
(R):5'- AAGTAGCTGTCTGAGTCACCCATG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation