Incidental Mutation 'R6849:Tmc3'
ID |
534909 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmc3
|
Ensembl Gene |
ENSMUSG00000038540 |
Gene Name |
transmembrane channel-like gene family 3 |
Synonyms |
|
MMRRC Submission |
044953-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R6849 (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 A
at 83235565 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Lysine
at position 54
(I54K)
|
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: I54K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000046028 Gene: ENSMUSG00000038540 AA Change: I54K
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: I54K
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130348 Gene: ENSMUSG00000038540 AA Change: I54K
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: 99.5%
- 20x: 98.5%
|
Validation Efficiency |
100% (55/55) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 56 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310022B05Rik |
G |
T |
8: 125,366,261 (GRCm39) |
Q161K |
probably damaging |
Het |
4930578I06Rik |
A |
T |
14: 64,223,687 (GRCm39) |
W30R |
probably damaging |
Het |
4930578I06Rik |
G |
T |
14: 64,223,688 (GRCm39) |
N29K |
probably benign |
Het |
Aldh6a1 |
A |
G |
12: 84,490,561 (GRCm39) |
V18A |
probably benign |
Het |
Apoa5 |
A |
G |
9: 46,181,298 (GRCm39) |
K125E |
probably benign |
Het |
Atosa |
A |
C |
9: 74,916,594 (GRCm39) |
N398H |
probably damaging |
Het |
Bphl |
T |
A |
13: 34,234,252 (GRCm39) |
|
probably null |
Het |
C2cd3 |
T |
A |
7: 100,056,134 (GRCm39) |
V514E |
probably damaging |
Het |
Cacna1s |
G |
A |
1: 136,020,432 (GRCm39) |
R823Q |
probably benign |
Het |
Cep192 |
A |
G |
18: 67,945,506 (GRCm39) |
D202G |
probably benign |
Het |
Chd5 |
A |
T |
4: 152,462,995 (GRCm39) |
N1420Y |
probably damaging |
Het |
Cnot10 |
A |
T |
9: 114,461,004 (GRCm39) |
D55E |
probably benign |
Het |
Cntn1 |
T |
A |
15: 92,203,127 (GRCm39) |
I803N |
probably damaging |
Het |
Col7a1 |
G |
T |
9: 108,804,121 (GRCm39) |
V2217L |
unknown |
Het |
Cpne9 |
T |
G |
6: 113,279,079 (GRCm39) |
V491G |
probably damaging |
Het |
Cracd |
C |
A |
5: 77,004,857 (GRCm39) |
A406E |
unknown |
Het |
Cracd |
C |
T |
5: 77,005,004 (GRCm39) |
A455V |
unknown |
Het |
Csnk2a1 |
C |
A |
2: 152,092,484 (GRCm39) |
H18Q |
probably benign |
Het |
D130040H23Rik |
T |
A |
8: 69,755,303 (GRCm39) |
Y253* |
probably null |
Het |
Dnah14 |
A |
T |
1: 181,636,510 (GRCm39) |
M4321L |
probably benign |
Het |
Dnah5 |
A |
G |
15: 28,278,770 (GRCm39) |
T1122A |
probably benign |
Het |
Eif4g1 |
A |
G |
16: 20,499,495 (GRCm39) |
I515V |
probably benign |
Het |
Fbn1 |
T |
C |
2: 125,163,611 (GRCm39) |
K2082E |
possibly damaging |
Het |
Fstl1 |
A |
G |
16: 37,641,521 (GRCm39) |
K99R |
probably benign |
Het |
Gar1 |
T |
C |
3: 129,623,038 (GRCm39) |
N117S |
probably damaging |
Het |
Gm3238 |
A |
T |
10: 77,606,744 (GRCm39) |
|
probably benign |
Het |
Gm32742 |
C |
T |
9: 51,050,014 (GRCm39) |
M1528I |
probably benign |
Het |
H2-T3 |
T |
C |
17: 36,500,697 (GRCm39) |
I49V |
probably benign |
Het |
Hyou1 |
A |
G |
9: 44,298,561 (GRCm39) |
I581V |
probably damaging |
Het |
Itk |
T |
C |
11: 46,222,762 (GRCm39) |
N563S |
probably damaging |
Het |
Lingo1 |
A |
G |
9: 56,526,900 (GRCm39) |
L563P |
probably damaging |
Het |
Lipc |
A |
G |
9: 70,726,129 (GRCm39) |
|
probably null |
Het |
Map4k3 |
A |
C |
17: 80,937,842 (GRCm39) |
|
probably null |
Het |
Mctp2 |
C |
T |
7: 71,861,466 (GRCm39) |
C393Y |
probably damaging |
Het |
Mei1 |
T |
A |
15: 81,964,146 (GRCm39) |
L229M |
possibly damaging |
Het |
Or13g1 |
T |
C |
7: 85,956,248 (GRCm39) |
I24M |
possibly damaging |
Het |
Or9i2 |
G |
T |
19: 13,816,203 (GRCm39) |
C111* |
probably null |
Het |
Pcnx2 |
A |
G |
8: 126,587,949 (GRCm39) |
V833A |
probably damaging |
Het |
Pde8b |
T |
C |
13: 95,184,307 (GRCm39) |
N388D |
possibly damaging |
Het |
Pi4ka |
G |
A |
16: 17,121,285 (GRCm39) |
A1197V |
possibly damaging |
Het |
Psd |
A |
G |
19: 46,306,185 (GRCm39) |
Y36H |
probably damaging |
Het |
Scn8a |
T |
A |
15: 100,853,468 (GRCm39) |
|
probably null |
Het |
Shisa6 |
A |
G |
11: 66,416,327 (GRCm39) |
V155A |
probably benign |
Het |
Slc45a3 |
T |
A |
1: 131,905,702 (GRCm39) |
C242S |
probably damaging |
Het |
Sorbs1 |
G |
C |
19: 40,365,244 (GRCm39) |
R180G |
probably benign |
Het |
Tmprss11g |
T |
A |
5: 86,644,491 (GRCm39) |
I118F |
probably benign |
Het |
Ttn |
T |
A |
2: 76,744,687 (GRCm39) |
D5454V |
possibly damaging |
Het |
Ube2f |
A |
G |
1: 91,181,935 (GRCm39) |
|
probably null |
Het |
Ubr7 |
T |
C |
12: 102,724,342 (GRCm39) |
S19P |
probably damaging |
Het |
Vav3 |
T |
C |
3: 109,428,782 (GRCm39) |
V371A |
probably damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,483,806 (GRCm39) |
V798A |
probably damaging |
Het |
Vmn2r95 |
T |
G |
17: 18,664,181 (GRCm39) |
C467G |
probably damaging |
Het |
Vmn2r95 |
G |
T |
17: 18,664,182 (GRCm39) |
C467F |
probably damaging |
Het |
Vps13b |
A |
G |
15: 35,905,455 (GRCm39) |
D3325G |
probably damaging |
Het |
Wnk2 |
T |
C |
13: 49,220,834 (GRCm39) |
T1158A |
probably damaging |
Het |
Zfp616 |
T |
A |
11: 73,976,276 (GRCm39) |
N848K |
possibly damaging |
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 |
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'- TGCTGACATTACCAAATTCTGTCAG -3'
(R):5'- AGCATCTTTGGAACTTCTCTGAG -3'
Sequencing Primer
(F):5'- CCAAATTCTGTCAGTCTATGGACAC -3'
(R):5'- CTCTGAGTGAGATGCAGGATG -3'
|
Posted On |
2018-09-12 |