Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00818:Tmtc3'

14518

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: 0.855) question?

Stock #

IGL00818

Quality Score

Status

Chromosome

Chromosomal Location

100279764-100323212 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 100307342 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Serine at position 221 (T221S)

Ref Sequence

ENSEMBL: ENSMUSP00000096921 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000058154] [ENSMUST00000099318]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000058154
AA Change: T221S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000061470
Gene: ENSMUSG00000036676
AA Change: T221S

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
AA Change: T221S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000096921
Gene: ENSMUSG00000036676
AA Change: T221S

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

noncoding transcript
Transcript: ENSMUST00000130883

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: 17 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	A	G	7: 75,259,475 (GRCm39)	T700A	probably benign	Het
Brinp1	T	A	4: 68,681,084 (GRCm39)	D482V	probably damaging	Het
Cmtr2	A	T	8: 110,949,732 (GRCm39)	T681S	probably benign	Het
Dcc	T	A	18: 72,088,083 (GRCm39)	M52L	probably benign	Het
Echdc1	A	G	10: 29,193,616 (GRCm39)	I38V	probably benign	Het
Gars1	G	T	6: 55,027,338 (GRCm39)	G144V	probably damaging	Het
Gp2	T	C	7: 119,049,350 (GRCm39)	T396A	possibly damaging	Het
Gpatch1	T	C	7: 34,976,238 (GRCm39)		probably null	Het
Mfap4	A	T	11: 61,378,607 (GRCm39)	Q209L	possibly damaging	Het
Pdcd2l	A	T	7: 33,884,158 (GRCm39)	M348K	possibly damaging	Het
Prkdc	A	T	16: 15,577,618 (GRCm39)	T2391S	possibly damaging	Het
Rxrg	C	T	1: 167,454,857 (GRCm39)		probably benign	Het
Serpinb2	A	G	1: 107,452,466 (GRCm39)	D348G	probably benign	Het
Tbc1d30	G	A	10: 121,102,729 (GRCm39)		probably benign	Het
Tro	C	T	X: 149,431,357 (GRCm39)	G1203D	probably damaging	Het
Ttn	T	A	2: 76,552,092 (GRCm39)	T31182S	probably damaging	Het
Zranb3	T	C	1: 127,960,604 (GRCm39)	Y220C	probably damaging	Het

Other mutations in Tmtc3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2012-12-06