Incidental Mutation 'IGL03238:Tmtc3'
ID |
414184 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Tmtc3
|
Ensembl Gene |
ENSMUSG00000036676 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 3 |
Synonyms |
B130008E12Rik, mSmile, 9130014E20Rik |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
IGL03238
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
100279764-100323212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to C
at 100313702 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Valine
at position 57
(F57V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000121473
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058154]
[ENSMUST00000099318]
[ENSMUST00000128009]
[ENSMUST00000134477]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058154
AA Change: F57V
PolyPhen 2
Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000061470 Gene: ENSMUSG00000036676 AA Change: F57V
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 damaging
Transcript: ENSMUST00000099318
AA Change: F57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096921 Gene: ENSMUSG00000036676 AA Change: F57V
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 |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000128009
AA Change: F57V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134477
|
Coding Region Coverage |
|
Validation Efficiency |
|
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: 40 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aadacl2 |
A |
C |
3: 59,932,339 (GRCm39) |
T285P |
probably benign |
Het |
Abcf1 |
T |
C |
17: 36,274,215 (GRCm39) |
K186E |
probably damaging |
Het |
Adam3 |
T |
C |
8: 25,177,981 (GRCm39) |
|
probably null |
Het |
Art1 |
T |
C |
7: 101,759,956 (GRCm39) |
V85A |
possibly damaging |
Het |
Ccdc110 |
A |
G |
8: 46,394,859 (GRCm39) |
H250R |
probably benign |
Het |
Cyp3a13 |
T |
A |
5: 137,897,151 (GRCm39) |
I388F |
probably damaging |
Het |
Dnah11 |
C |
T |
12: 118,073,633 (GRCm39) |
V1425M |
probably damaging |
Het |
Donson |
G |
A |
16: 91,478,134 (GRCm39) |
Q22* |
probably null |
Het |
Eif2b2 |
A |
G |
12: 85,270,173 (GRCm39) |
T238A |
probably benign |
Het |
Emc2 |
T |
A |
15: 43,371,249 (GRCm39) |
|
probably null |
Het |
Fkbp4 |
A |
T |
6: 128,411,720 (GRCm39) |
V123E |
probably damaging |
Het |
Frem2 |
A |
T |
3: 53,563,682 (GRCm39) |
M275K |
possibly damaging |
Het |
Gcat |
T |
A |
15: 78,920,210 (GRCm39) |
|
probably benign |
Het |
Gemin2 |
G |
A |
12: 59,063,748 (GRCm39) |
|
probably benign |
Het |
Ilf3 |
T |
A |
9: 21,303,646 (GRCm39) |
V169E |
probably damaging |
Het |
Klra17 |
T |
C |
6: 129,845,773 (GRCm39) |
H147R |
probably benign |
Het |
Lama5 |
A |
G |
2: 179,830,367 (GRCm39) |
I1880T |
probably benign |
Het |
Lzts1 |
T |
C |
8: 69,591,446 (GRCm39) |
D234G |
probably damaging |
Het |
Map3k4 |
G |
A |
17: 12,490,045 (GRCm39) |
P462L |
probably benign |
Het |
Marchf6 |
C |
A |
15: 31,462,087 (GRCm39) |
|
probably benign |
Het |
Mcm6 |
A |
T |
1: 128,283,257 (GRCm39) |
F83I |
probably benign |
Het |
Mtpn |
A |
G |
6: 35,499,708 (GRCm39) |
L32P |
probably damaging |
Het |
Mybpc3 |
A |
T |
2: 90,962,004 (GRCm39) |
I841F |
probably damaging |
Het |
Ndst2 |
G |
T |
14: 20,778,572 (GRCm39) |
H399N |
probably damaging |
Het |
Npat |
G |
T |
9: 53,481,726 (GRCm39) |
V1145F |
probably damaging |
Het |
Or51b6 |
G |
A |
7: 103,555,717 (GRCm39) |
A21T |
probably benign |
Het |
P2ry1 |
T |
A |
3: 60,911,916 (GRCm39) |
S352T |
probably damaging |
Het |
Plaa |
T |
C |
4: 94,472,133 (GRCm39) |
T326A |
probably benign |
Het |
Ppdpf |
T |
C |
2: 180,829,673 (GRCm39) |
S43P |
probably benign |
Het |
Prb1b |
T |
A |
6: 132,289,308 (GRCm39) |
Q172L |
unknown |
Het |
Setd1a |
C |
T |
7: 127,384,718 (GRCm39) |
T523I |
possibly damaging |
Het |
Sgcz |
C |
T |
8: 38,030,294 (GRCm39) |
|
probably null |
Het |
Slc12a2 |
T |
C |
18: 58,047,306 (GRCm39) |
Y740H |
possibly damaging |
Het |
Stab2 |
A |
G |
10: 86,690,985 (GRCm39) |
C745R |
probably damaging |
Het |
Tmem101 |
A |
T |
11: 102,046,611 (GRCm39) |
L86Q |
probably damaging |
Het |
Vps50 |
A |
G |
6: 3,594,771 (GRCm39) |
K778R |
possibly damaging |
Het |
Washc5 |
G |
A |
15: 59,218,691 (GRCm39) |
T692M |
probably damaging |
Het |
Zc3hav1 |
A |
T |
6: 38,309,685 (GRCm39) |
V379D |
probably damaging |
Het |
Zfp142 |
G |
T |
1: 74,615,437 (GRCm39) |
R459S |
probably benign |
Het |
Zfp512b |
A |
G |
2: 181,231,553 (GRCm39) |
V199A |
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 |
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 |
R3011:Tmtc3
|
UTSW |
10 |
100,283,444 (GRCm39) |
missense |
possibly damaging |
0.76 |
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 |
|
Posted On |
2016-08-02 |