Incidental Mutation 'R3011:Tmtc3'
| ID |
257512 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Tmtc3
|
| Ensembl Gene |
ENSMUSG00000036676 |
| Gene Name |
transmembrane and tetratricopeptide repeat containing 3 |
| Synonyms |
B130008E12Rik, mSmile, 9130014E20Rik |
| MMRRC Submission |
040533-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.836)
|
| Stock # |
R3011 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
10 |
| Chromosomal Location |
100279764-100323212 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 100283444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 704
(P704T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000061470
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058154]
[ENSMUST00000099318]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000058154
AA Change: P704T
PolyPhen 2
Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: P704T
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
173 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
263 |
336 |
5.4e-35 |
PFAM |
|
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
|
transmembrane domain
|
382 |
399 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
8.23e-6 |
SMART |
|
TPR
|
485 |
518 |
2.13e1 |
SMART |
|
TPR
|
533 |
567 |
8.77e1 |
SMART |
|
TPR
|
568 |
601 |
3.19e-3 |
SMART |
|
TPR
|
602 |
635 |
1.06e-8 |
SMART |
|
TPR
|
673 |
706 |
1.35e-1 |
SMART |
|
TPR
|
707 |
740 |
1.44e1 |
SMART |
|
TPR
|
741 |
775 |
1.51e1 |
SMART |
|
TPR
|
776 |
809 |
9e1 |
SMART |
|
low complexity region
|
867 |
880 |
N/A |
INTRINSIC |
|
low complexity region
|
891 |
902 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000099318
|
| SMART Domains |
Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
13 |
35 |
N/A |
INTRINSIC |
|
transmembrane domain
|
98 |
120 |
N/A |
INTRINSIC |
|
transmembrane domain
|
141 |
163 |
N/A |
INTRINSIC |
|
transmembrane domain
|
173 |
192 |
N/A |
INTRINSIC |
|
transmembrane domain
|
205 |
227 |
N/A |
INTRINSIC |
|
transmembrane domain
|
237 |
259 |
N/A |
INTRINSIC |
|
Pfam:DUF1736
|
261 |
338 |
2.6e-33 |
PFAM |
|
transmembrane domain
|
353 |
375 |
N/A |
INTRINSIC |
|
transmembrane domain
|
382 |
399 |
N/A |
INTRINSIC |
|
TPR
|
451 |
484 |
8.23e-6 |
SMART |
|
TPR
|
485 |
518 |
2.13e1 |
SMART |
|
TPR
|
533 |
567 |
8.77e1 |
SMART |
|
TPR
|
568 |
601 |
3.19e-3 |
SMART |
|
TPR
|
602 |
635 |
1.06e-8 |
SMART |
|
| Meta Mutation Damage Score |
0.1795 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.0%
|
| Validation Efficiency |
100% (29/29) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that belongs to the transmembrane and tetratricopeptide repeat-containing protein family. [provided by RefSeq, May 2010]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit impaired bronchial smooth muscle and alveolar myofibroblast development that leads to cyanosis and postnatal lethality in some mice. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap31 |
A |
C |
16: 38,422,269 (GRCm39) |
C1266G |
possibly damaging |
Het |
| Brme1 |
C |
A |
8: 84,893,539 (GRCm39) |
Y235* |
probably null |
Het |
| Cers5 |
A |
G |
15: 99,670,598 (GRCm39) |
|
probably benign |
Het |
| Clasp2 |
C |
T |
9: 113,730,581 (GRCm39) |
T905M |
probably damaging |
Het |
| Clec16a |
A |
G |
16: 10,428,975 (GRCm39) |
N469S |
probably benign |
Het |
| Commd3 |
T |
A |
2: 18,679,499 (GRCm39) |
V128D |
probably damaging |
Het |
| Cped1 |
A |
G |
6: 22,088,695 (GRCm39) |
T253A |
probably damaging |
Het |
| Dnajc5b |
A |
T |
3: 19,600,966 (GRCm39) |
Y21F |
probably damaging |
Het |
| Fhip2a |
T |
A |
19: 57,373,720 (GRCm39) |
L660Q |
probably damaging |
Het |
| Gm14403 |
A |
G |
2: 177,200,786 (GRCm39) |
D244G |
probably benign |
Het |
| Gm5414 |
T |
C |
15: 101,534,047 (GRCm39) |
D312G |
probably damaging |
Het |
| Ifi204 |
T |
C |
1: 173,579,217 (GRCm39) |
S543G |
probably benign |
Het |
| Itga11 |
T |
A |
9: 62,604,262 (GRCm39) |
I50N |
probably damaging |
Het |
| Lct |
C |
T |
1: 128,229,109 (GRCm39) |
V795I |
possibly damaging |
Het |
| Lrrc37 |
T |
A |
11: 103,503,929 (GRCm39) |
T504S |
possibly damaging |
Het |
| Map2 |
A |
G |
1: 66,453,771 (GRCm39) |
D887G |
probably damaging |
Het |
| Mgat4e |
T |
A |
1: 134,469,846 (GRCm39) |
D66V |
possibly damaging |
Het |
| Nqo1 |
C |
T |
8: 108,115,743 (GRCm39) |
R178H |
probably benign |
Het |
| Or13e8 |
G |
T |
4: 43,696,624 (GRCm39) |
A183E |
probably damaging |
Het |
| Or5h22 |
A |
G |
16: 58,895,350 (GRCm39) |
V31A |
probably benign |
Het |
| Otof |
G |
A |
5: 30,540,184 (GRCm39) |
A999V |
probably damaging |
Het |
| Phf20 |
A |
G |
2: 156,129,946 (GRCm39) |
D506G |
probably benign |
Het |
| Pth2r |
C |
T |
1: 65,376,147 (GRCm39) |
H97Y |
probably benign |
Het |
| Snx18 |
G |
A |
13: 113,753,422 (GRCm39) |
Q504* |
probably null |
Het |
| Sppl2c |
C |
T |
11: 104,078,141 (GRCm39) |
P314S |
probably benign |
Het |
| Srgap2 |
T |
A |
1: 131,238,329 (GRCm39) |
Q520L |
probably damaging |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Tlr4 |
A |
T |
4: 66,757,491 (GRCm39) |
K95* |
probably null |
Het |
| Tmem59l |
A |
T |
8: 70,938,887 (GRCm39) |
C96S |
probably damaging |
Het |
| Upp2 |
T |
C |
2: 58,680,107 (GRCm39) |
V293A |
probably damaging |
Het |
| Vps72 |
A |
G |
3: 95,026,585 (GRCm39) |
K177E |
probably damaging |
Het |
|
| Other mutations in Tmtc3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00818:Tmtc3
|
APN |
10 |
100,307,342 (GRCm39) |
missense |
probably benign |
|
|
IGL00962:Tmtc3
|
APN |
10 |
100,307,815 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01670:Tmtc3
|
APN |
10 |
100,282,987 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL01729:Tmtc3
|
APN |
10 |
100,283,017 (GRCm39) |
missense |
probably benign |
|
|
IGL01933:Tmtc3
|
APN |
10 |
100,283,467 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01961:Tmtc3
|
APN |
10 |
100,282,893 (GRCm39) |
missense |
probably benign |
|
|
IGL03063:Tmtc3
|
APN |
10 |
100,283,468 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03176:Tmtc3
|
APN |
10 |
100,301,993 (GRCm39) |
missense |
possibly damaging |
0.57 |
|
IGL03195:Tmtc3
|
APN |
10 |
100,294,896 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03238:Tmtc3
|
APN |
10 |
100,313,702 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03272:Tmtc3
|
APN |
10 |
100,292,942 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL03335:Tmtc3
|
APN |
10 |
100,302,116 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL03375:Tmtc3
|
APN |
10 |
100,283,581 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
IGL03409:Tmtc3
|
APN |
10 |
100,287,294 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
concordat
|
UTSW |
10 |
100,286,214 (GRCm39) |
nonsense |
probably null |
|
|
R0078:Tmtc3
|
UTSW |
10 |
100,284,823 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0121:Tmtc3
|
UTSW |
10 |
100,294,770 (GRCm39) |
splice site |
probably benign |
|
|
R0234:Tmtc3
|
UTSW |
10 |
100,286,184 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0234:Tmtc3
|
UTSW |
10 |
100,286,184 (GRCm39) |
missense |
probably benign |
0.44 |
|
R0480:Tmtc3
|
UTSW |
10 |
100,307,266 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1136:Tmtc3
|
UTSW |
10 |
100,307,905 (GRCm39) |
unclassified |
probably benign |
|
|
R1203:Tmtc3
|
UTSW |
10 |
100,312,606 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1253:Tmtc3
|
UTSW |
10 |
100,287,252 (GRCm39) |
missense |
probably benign |
0.05 |
|
R2181:Tmtc3
|
UTSW |
10 |
100,284,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R3430:Tmtc3
|
UTSW |
10 |
100,283,437 (GRCm39) |
missense |
probably benign |
0.29 |
|
R3910:Tmtc3
|
UTSW |
10 |
100,284,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3911:Tmtc3
|
UTSW |
10 |
100,284,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3912:Tmtc3
|
UTSW |
10 |
100,284,888 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4773:Tmtc3
|
UTSW |
10 |
100,293,001 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
R4838:Tmtc3
|
UTSW |
10 |
100,302,082 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4996:Tmtc3
|
UTSW |
10 |
100,283,086 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5131:Tmtc3
|
UTSW |
10 |
100,284,841 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5976:Tmtc3
|
UTSW |
10 |
100,312,534 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6700:Tmtc3
|
UTSW |
10 |
100,307,339 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7187:Tmtc3
|
UTSW |
10 |
100,313,774 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7211:Tmtc3
|
UTSW |
10 |
100,283,467 (GRCm39) |
missense |
probably benign |
0.05 |
|
R7299:Tmtc3
|
UTSW |
10 |
100,283,336 (GRCm39) |
missense |
not run |
|
|
R7301:Tmtc3
|
UTSW |
10 |
100,283,336 (GRCm39) |
missense |
not run |
|
|
R7329:Tmtc3
|
UTSW |
10 |
100,283,281 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7509:Tmtc3
|
UTSW |
10 |
100,301,956 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7614:Tmtc3
|
UTSW |
10 |
100,286,214 (GRCm39) |
nonsense |
probably null |
|
|
R8329:Tmtc3
|
UTSW |
10 |
100,283,296 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8394:Tmtc3
|
UTSW |
10 |
100,282,808 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8771:Tmtc3
|
UTSW |
10 |
100,286,180 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R9317:Tmtc3
|
UTSW |
10 |
100,301,896 (GRCm39) |
missense |
probably benign |
|
|
RF023:Tmtc3
|
UTSW |
10 |
100,313,728 (GRCm39) |
missense |
probably benign |
|
|
Z1176:Tmtc3
|
UTSW |
10 |
100,307,318 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCTCCAGGTATATCCTTCTTTTGG -3'
(R):5'- GTACTGATCAAAGGTTTCAGTCAC -3'
Sequencing Primer
(F):5'- ATCCTTCTTTTGGTTCATCAGAATG -3'
(R):5'- GATCAAAGGTTTCAGTCACATTGTC -3'
|
| Posted On |
2015-01-11 |
Incidental Mutation