Incidental Mutation 'R8771:Tmtc3'
ID |
664417 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Tmtc3
|
Ensembl Gene |
ENSMUSG00000036676 |
Gene Name |
transmembrane and tetratricopeptide repeat containing 3 |
Synonyms |
B130008E12Rik, mSmile, 9130014E20Rik |
MMRRC Submission |
068602-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.836)
|
Stock # |
R8771 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
100279764-100323212 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 100286180 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 548
(S548P)
|
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: S548P
PolyPhen 2
Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000061470 Gene: ENSMUSG00000036676 AA Change: S548P
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: S548P
PolyPhen 2
Score 0.970 (Sensitivity: 0.77; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000096921 Gene: ENSMUSG00000036676 AA Change: S548P
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 |
0.1558 |
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.3%
|
Validation Efficiency |
100% (47/47) |
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: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca4 |
T |
C |
3: 121,880,320 (GRCm39) |
I451T |
probably damaging |
Het |
Acin1 |
T |
C |
14: 54,880,496 (GRCm39) |
K1236E |
unknown |
Het |
AI661453 |
T |
C |
17: 47,777,683 (GRCm39) |
S470P |
unknown |
Het |
Ano5 |
C |
A |
7: 51,216,095 (GRCm39) |
N357K |
probably damaging |
Het |
Ano5 |
C |
T |
7: 51,220,047 (GRCm39) |
Q396* |
probably null |
Het |
Baz1b |
T |
A |
5: 135,273,151 (GRCm39) |
M1425K |
probably benign |
Het |
Cdh22 |
A |
T |
2: 164,988,689 (GRCm39) |
V222E |
possibly damaging |
Het |
Celsr1 |
A |
T |
15: 85,788,175 (GRCm39) |
S2692R |
probably benign |
Het |
Ces5a |
A |
G |
8: 94,255,249 (GRCm39) |
I144T |
possibly damaging |
Het |
D5Ertd579e |
T |
A |
5: 36,761,940 (GRCm39) |
N1309I |
probably damaging |
Het |
Dnmt3b |
C |
T |
2: 153,504,734 (GRCm39) |
T112M |
possibly damaging |
Het |
Eif4g3 |
C |
T |
4: 137,907,848 (GRCm39) |
Q1283* |
probably null |
Het |
Etnppl |
T |
A |
3: 130,414,024 (GRCm39) |
M41K |
probably damaging |
Het |
Hhatl |
G |
A |
9: 121,617,776 (GRCm39) |
T271I |
possibly damaging |
Het |
Igkv5-37 |
A |
G |
6: 69,940,423 (GRCm39) |
S74P |
probably damaging |
Het |
Krt87 |
A |
G |
15: 101,385,779 (GRCm39) |
V272A |
probably benign |
Het |
Lgr6 |
A |
T |
1: 134,933,429 (GRCm39) |
L262* |
probably null |
Het |
Lrriq3 |
G |
A |
3: 154,899,270 (GRCm39) |
V590I |
probably damaging |
Het |
Mfsd13a |
T |
C |
19: 46,360,668 (GRCm39) |
V382A |
probably damaging |
Het |
Minar2 |
T |
C |
18: 59,200,052 (GRCm39) |
|
probably benign |
Het |
Mrc2 |
A |
G |
11: 105,240,596 (GRCm39) |
T1429A |
probably benign |
Het |
Mroh5 |
A |
T |
15: 73,693,203 (GRCm39) |
M79K |
possibly damaging |
Het |
Myo1c |
A |
G |
11: 75,556,709 (GRCm39) |
K553R |
probably benign |
Het |
Nbeal1 |
A |
G |
1: 60,300,743 (GRCm39) |
T1488A |
probably benign |
Het |
Or4c12 |
T |
C |
2: 89,773,565 (GRCm39) |
K298R |
probably benign |
Het |
Or5aq6 |
T |
C |
2: 86,923,294 (GRCm39) |
Y149C |
probably benign |
Het |
Or5m10b |
T |
G |
2: 85,699,712 (GRCm39) |
Y259D |
probably damaging |
Het |
Or5p76 |
T |
A |
7: 108,122,632 (GRCm39) |
N175I |
possibly damaging |
Het |
Prl7a1 |
A |
T |
13: 27,819,811 (GRCm39) |
W148R |
probably damaging |
Het |
Ptpn2 |
G |
T |
18: 67,805,659 (GRCm39) |
T402K |
probably benign |
Het |
Ptprf |
A |
G |
4: 118,068,987 (GRCm39) |
M1665T |
possibly damaging |
Het |
Raet1e |
G |
T |
10: 22,057,041 (GRCm39) |
V122F |
probably damaging |
Het |
Serpina3m |
A |
G |
12: 104,357,841 (GRCm39) |
E255G |
probably damaging |
Het |
Sorcs2 |
T |
C |
5: 36,188,624 (GRCm39) |
Y828C |
probably damaging |
Het |
Sprr1a |
T |
A |
3: 92,391,989 (GRCm39) |
H4L |
probably benign |
Het |
Sptssa |
A |
G |
12: 54,703,211 (GRCm39) |
Y20H |
probably damaging |
Het |
Synpo2l |
A |
G |
14: 20,710,491 (GRCm39) |
S939P |
probably damaging |
Het |
Tdrd7 |
T |
C |
4: 46,010,800 (GRCm39) |
V568A |
probably damaging |
Het |
Tmem132c |
C |
T |
5: 127,437,192 (GRCm39) |
P227L |
probably benign |
Het |
Trip12 |
A |
T |
1: 84,721,018 (GRCm39) |
|
probably benign |
Het |
Ttll6 |
A |
G |
11: 96,042,762 (GRCm39) |
Y436C |
probably damaging |
Het |
Unc80 |
A |
G |
1: 66,685,554 (GRCm39) |
D2226G |
possibly damaging |
Het |
Vmn1r142 |
T |
C |
7: 21,862,737 (GRCm39) |
M242V |
probably benign |
Het |
Vmn2r12 |
T |
G |
5: 109,239,952 (GRCm39) |
T204P |
possibly damaging |
Het |
Vmn2r16 |
C |
T |
5: 109,488,231 (GRCm39) |
T368M |
probably benign |
Het |
Vmn2r61 |
C |
A |
7: 41,916,194 (GRCm39) |
A269D |
probably damaging |
Het |
Zfp148 |
A |
G |
16: 33,317,656 (GRCm39) |
D776G |
possibly damaging |
Het |
Zfp775 |
A |
T |
6: 48,596,906 (GRCm39) |
Q260L |
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 |
|
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 |
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'- TTGATGCACATAGCTGTCAAGAAAG -3'
(R):5'- TCAGCAAAATCTTAGGTTCTGTGTC -3'
Sequencing Primer
(F):5'- TGCACATAGCTGTCAAGAAAGAACAC -3'
(R):5'- GGTTCTGTGTCACTTGAAATAAGTC -3'
|
Posted On |
2021-03-08 |