Incidental Mutation 'R1203:Tmtc3'
ID |
100270 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmtc3
|
Ensembl Gene |
ENSMUSG00000036676 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 3 |
Synonyms |
B130008E12Rik, mSmile, 9130014E20Rik |
MMRRC Submission |
039273-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.855)
|
Stock # |
R1203 (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 100312606 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Lysine
at position 79
(T79K)
|
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: T79K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000061470 Gene: ENSMUSG00000036676 AA Change: T79K
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: T79K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000096921 Gene: ENSMUSG00000036676 AA Change: T79K
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: T79K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130883
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000134477
|
Meta Mutation Damage Score |
0.8921 |
Coding Region Coverage |
- 1x: 99.5%
- 3x: 98.4%
- 10x: 95.6%
- 20x: 89.3%
|
Validation Efficiency |
100% (50/50) |
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: 44 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
A830018L16Rik |
A |
T |
1: 11,588,818 (GRCm39) |
R78S |
probably damaging |
Het |
Aadacl3 |
T |
C |
4: 144,190,140 (GRCm39) |
T54A |
probably benign |
Het |
Adcy8 |
A |
G |
15: 64,618,780 (GRCm39) |
I791T |
probably damaging |
Het |
Aldh1b1 |
A |
G |
4: 45,803,359 (GRCm39) |
D299G |
probably damaging |
Het |
Aoah |
A |
G |
13: 21,000,764 (GRCm39) |
E66G |
probably damaging |
Het |
Atl2 |
G |
T |
17: 80,160,334 (GRCm39) |
H418N |
probably damaging |
Het |
Atp6v1d |
A |
G |
12: 78,908,214 (GRCm39) |
I7T |
possibly damaging |
Het |
Calhm3 |
C |
T |
19: 47,143,839 (GRCm39) |
V155M |
probably damaging |
Het |
Carmil1 |
A |
T |
13: 24,282,989 (GRCm39) |
I105K |
probably damaging |
Het |
Csrp3 |
C |
A |
7: 48,489,278 (GRCm39) |
M1I |
probably null |
Het |
Dnah10 |
T |
A |
5: 124,837,078 (GRCm39) |
|
probably null |
Het |
Dnah11 |
T |
C |
12: 117,897,547 (GRCm39) |
N3561S |
possibly damaging |
Het |
Dzip3 |
A |
T |
16: 48,772,180 (GRCm39) |
D496E |
probably damaging |
Het |
Eif2ak1 |
T |
C |
5: 143,820,797 (GRCm39) |
V246A |
probably benign |
Het |
Fam171b |
T |
A |
2: 83,643,313 (GRCm39) |
V74E |
probably benign |
Het |
Gm14137 |
C |
T |
2: 119,005,605 (GRCm39) |
R55W |
probably damaging |
Het |
Gm4950 |
T |
C |
18: 51,998,830 (GRCm39) |
I42V |
probably benign |
Het |
Gpr35 |
T |
C |
1: 92,910,870 (GRCm39) |
V194A |
probably damaging |
Het |
Kdm5d |
C |
T |
Y: 941,011 (GRCm39) |
S1132F |
probably damaging |
Het |
Muc4 |
C |
A |
16: 32,754,529 (GRCm38) |
H1468N |
probably benign |
Het |
Ncln |
A |
G |
10: 81,332,027 (GRCm39) |
V24A |
possibly damaging |
Het |
Nphp4 |
A |
G |
4: 152,573,289 (GRCm39) |
K76E |
probably damaging |
Het |
Nsf |
CAATAATAATAATAATA |
CAATAATAATAATAATAATA |
11: 103,816,952 (GRCm39) |
|
probably benign |
Het |
Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
Or52h2 |
A |
T |
7: 103,839,060 (GRCm39) |
L118* |
probably null |
Het |
Pabpc1l |
G |
T |
2: 163,879,091 (GRCm39) |
V313F |
possibly damaging |
Het |
Pcbd2 |
G |
A |
13: 55,880,881 (GRCm39) |
|
probably null |
Het |
Rapgef6 |
T |
A |
11: 54,582,525 (GRCm39) |
V1479D |
probably benign |
Het |
Rnf43 |
T |
C |
11: 87,618,301 (GRCm39) |
|
probably benign |
Het |
Robo3 |
A |
G |
9: 37,329,978 (GRCm39) |
W1113R |
probably damaging |
Het |
Sall1 |
A |
T |
8: 89,758,562 (GRCm39) |
V514E |
probably damaging |
Het |
Sgpp1 |
A |
G |
12: 75,763,056 (GRCm39) |
I375T |
probably benign |
Het |
Strc |
T |
C |
2: 121,202,604 (GRCm39) |
N1187S |
possibly damaging |
Het |
Tbc1d17 |
G |
A |
7: 44,492,895 (GRCm39) |
R363W |
probably damaging |
Het |
Tbcd |
A |
G |
11: 121,366,451 (GRCm39) |
Q242R |
probably benign |
Het |
Tbcel |
A |
C |
9: 42,362,947 (GRCm39) |
V50G |
probably damaging |
Het |
Tead3 |
C |
T |
17: 28,560,536 (GRCm39) |
A23T |
probably benign |
Het |
Tedc2 |
T |
A |
17: 24,435,291 (GRCm39) |
E366V |
probably damaging |
Het |
Tedc2 |
C |
A |
17: 24,435,292 (GRCm39) |
E366* |
probably null |
Het |
Tlcd5 |
A |
G |
9: 43,022,775 (GRCm39) |
V193A |
probably benign |
Het |
Tmem241 |
G |
T |
18: 12,217,035 (GRCm39) |
|
probably benign |
Het |
Utrn |
A |
G |
10: 12,362,281 (GRCm39) |
V241A |
probably damaging |
Het |
Vps8 |
A |
T |
16: 21,330,307 (GRCm39) |
I729F |
probably damaging |
Het |
Zfp407 |
C |
T |
18: 84,577,898 (GRCm39) |
A1072T |
probably benign |
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TTGTGCAGCCGTACTTACTGCC -3'
(R):5'- GTGCCGTAAATGTCCCCATACACC -3'
Sequencing Primer
(F):5'- CGTACTTACTGCCTCGGTATGG -3'
(R):5'- CCCATACACCTAGTCTGGAGG -3'
|
Posted On |
2014-01-15 |