Incidental Mutation 'R8394:Tmtc3'
ID |
647532 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmtc3
|
Ensembl Gene |
ENSMUSG00000036676 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 3 |
Synonyms |
B130008E12Rik, mSmile, 9130014E20Rik |
MMRRC Submission |
067758-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
R8394 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
100279764-100323212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100282808 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Isoleucine to Valine
at position 916
(I916V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000061470
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000058154]
[ENSMUST00000099318]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000058154
AA Change: I916V
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000061470 Gene: ENSMUSG00000036676 AA Change: I916V
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700129C05Rik |
T |
C |
14: 59,379,623 (GRCm39) |
N137S |
probably benign |
Het |
4930505A04Rik |
T |
A |
11: 30,404,880 (GRCm39) |
|
probably null |
Het |
Abcc8 |
A |
G |
7: 45,803,977 (GRCm39) |
I399T |
probably benign |
Het |
Aldh3b2 |
A |
C |
19: 4,029,461 (GRCm39) |
Q278P |
probably benign |
Het |
Arl8b |
A |
G |
6: 108,760,244 (GRCm39) |
D10G |
possibly damaging |
Het |
Baiap3 |
T |
C |
17: 25,469,096 (GRCm39) |
N229S |
probably benign |
Het |
Chrdl2 |
T |
C |
7: 99,666,292 (GRCm39) |
S71P |
possibly damaging |
Het |
Cmbl |
A |
G |
15: 31,585,541 (GRCm39) |
M142V |
possibly damaging |
Het |
Cpt1b |
A |
G |
15: 89,306,490 (GRCm39) |
|
probably null |
Het |
Crybg3 |
T |
C |
16: 59,378,651 (GRCm39) |
K868E |
probably benign |
Het |
Efl1 |
A |
G |
7: 82,411,986 (GRCm39) |
I792V |
probably benign |
Het |
Evx2 |
A |
G |
2: 74,486,321 (GRCm39) |
L356S |
probably benign |
Het |
Hspa14 |
C |
T |
2: 3,513,670 (GRCm39) |
|
probably null |
Het |
Ighv5-8 |
C |
T |
12: 113,618,813 (GRCm39) |
A76V |
unknown |
Het |
Il7r |
A |
G |
15: 9,516,504 (GRCm39) |
F99S |
probably damaging |
Het |
Klra2 |
A |
T |
6: 131,222,273 (GRCm39) |
V6D |
possibly damaging |
Het |
Lce3c |
T |
C |
3: 92,852,760 (GRCm39) |
S74P |
unknown |
Het |
Nectin2 |
C |
T |
7: 19,467,137 (GRCm39) |
|
probably null |
Het |
Nfil3 |
A |
G |
13: 53,121,849 (GRCm39) |
S352P |
probably benign |
Het |
Nme6 |
T |
A |
9: 109,664,394 (GRCm39) |
M1K |
probably null |
Het |
Or52z13 |
A |
T |
7: 103,247,404 (GRCm39) |
I294F |
probably damaging |
Het |
Otogl |
A |
G |
10: 107,722,326 (GRCm39) |
|
probably null |
Het |
Plcb1 |
T |
C |
2: 135,159,710 (GRCm39) |
V391A |
probably damaging |
Het |
Ptf1a |
T |
A |
2: 19,450,746 (GRCm39) |
D25E |
probably damaging |
Het |
Ralbp1 |
C |
T |
17: 66,159,748 (GRCm39) |
R505H |
probably benign |
Het |
Scube1 |
T |
C |
15: 83,492,492 (GRCm39) |
Y944C |
probably damaging |
Het |
Sdk2 |
A |
G |
11: 113,729,542 (GRCm39) |
I1039T |
probably benign |
Het |
Senp7 |
G |
T |
16: 55,990,190 (GRCm39) |
W646L |
possibly damaging |
Het |
Sphkap |
A |
T |
1: 83,253,797 (GRCm39) |
N1317K |
probably benign |
Het |
Strc |
G |
T |
2: 121,209,490 (GRCm39) |
Q278K |
probably benign |
Het |
Tbc1d30 |
T |
A |
10: 121,183,013 (GRCm39) |
R142* |
probably null |
Het |
Tomm40l |
A |
T |
1: 171,048,776 (GRCm39) |
H79Q |
probably damaging |
Het |
Txndc12 |
T |
A |
4: 108,713,420 (GRCm39) |
|
probably null |
Het |
Vmn2r2 |
T |
C |
3: 64,044,858 (GRCm39) |
N96S |
probably damaging |
Het |
Vmn2r27 |
T |
C |
6: 124,168,776 (GRCm39) |
T785A |
possibly damaging |
Het |
Zfp217 |
G |
A |
2: 169,961,571 (GRCm39) |
S252F |
possibly damaging |
Het |
Zfp462 |
A |
G |
4: 55,011,862 (GRCm39) |
D1276G |
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 |
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 |
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'- ACAGGTAGGTCTTCAATGAAACTC -3'
(R):5'- GCTGATAAGACTCCAGGTACAG -3'
Sequencing Primer
(F):5'- ACTCTCATTTTGATCCTATAGAGAGG -3'
(R):5'- GAAATCCCTTCTGAGGATGTAAAAG -3'
|
Posted On |
2020-09-02 |