Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01637:Tmtc2'

93043

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

D330034A10Rik, 8430438D04Rik

Accession Numbers

Is this an essential gene?

Probably non essential (E-score: 0.108) question?

Stock #

IGL01637

Quality Score

Status

Chromosome

Chromosomal Location

105187663-105574451 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 105370085 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 450 (F450I)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000061506]

AlphaFold

Q56A06

Predicted Effect

probably benign
Transcript: ENSMUST00000061506
AA Change: F450I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: F450I

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
transmembrane domain	223	245	N/A	INTRINSIC
Pfam:DUF1736	247	321	7.3e-33	PFAM
transmembrane domain	393	415	N/A	INTRINSIC
transmembrane domain	425	444	N/A	INTRINSIC
TPR	493	526	1.6e-3	SMART
TPR	527	560	6.84e-3	SMART
TPR	561	594	2.52e-1	SMART
TPR	606	639	3.12e-6	SMART
TPR	643	676	3.99e1	SMART
TPR	677	710	7.12e-1	SMART
low complexity region	729	739	N/A	INTRINSIC
TPR	745	778	1.51e1	SMART
TPR	779	812	1.43e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143691

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is an integral membrane protein localized to the endoplasmic reticulum (ER). The encoded protein contains many tetratricopeptide repeats, sequences known for being involved in protein-protein interactions. This protein binds both the calcium uptake pump SERCA2B and the carbohydrate-binding chaperone calnexin, and it appears to play a role in calcium homeostasis in the ER. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2016]

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actn4	A	T	7: 28,904,684	I384N	probably damaging	Het
Adsl	G	T	15: 80,948,700	Q51H	probably null	Het
Apcdd1	A	G	18: 62,937,286	E208G	probably damaging	Het
Arrdc4	G	A	7: 68,744,832	R155*	probably null	Het
Atp9b	T	C	18: 80,756,455	E823G	probably benign	Het
Bmp1	A	G	14: 70,492,461	W468R	probably damaging	Het
C6	A	G	15: 4,759,917	I281M	possibly damaging	Het
Ccdc88b	T	C	19: 6,846,710	T1392A	probably benign	Het
Dhx34	G	T	7: 16,205,473	S665Y	probably damaging	Het
Dock1	A	T	7: 135,137,813		probably null	Het
Dpp7	T	C	2: 25,354,613	N252S	probably benign	Het
Dyrk2	A	G	10: 118,860,507	V282A	probably damaging	Het
Edrf1	T	C	7: 133,650,525	L401P	probably damaging	Het
Epc1	A	G	18: 6,439,724	V150A	probably benign	Het
Fam170a	A	T	18: 50,281,667	M127L	possibly damaging	Het
Fam19a3	C	T	3: 104,773,079	V75M	probably damaging	Het
Gabrg1	T	A	5: 70,777,205	T277S	probably damaging	Het
Galntl5	T	C	5: 25,189,825		probably benign	Het
Gbp2b	A	G	3: 142,598,312	N56S	probably damaging	Het
Gfm2	T	A	13: 97,150,409	V172E	probably damaging	Het
Gm10419	T	C	5: 108,372,358		probably benign	Het
Gm7293	A	G	9: 51,623,606		noncoding transcript	Het
Gstm3	T	C	3: 107,967,633	E101G	probably damaging	Het
Ifnlr1	T	C	4: 135,686,545	W2R	possibly damaging	Het
Ighv13-1	A	T	12: 114,267,733		probably benign	Het
Ighv7-1	T	A	12: 113,896,503	I90F	possibly damaging	Het
Itga2b	A	G	11: 102,455,583	L1009P	probably damaging	Het
Kif1a	A	G	1: 93,039,853	V1112A	possibly damaging	Het
Kif5a	A	T	10: 127,245,368	D232E	possibly damaging	Het
Klb	G	A	5: 65,375,679		probably null	Het
Lrriq1	G	A	10: 103,215,628	A421V	probably benign	Het
Mdga1	G	A	17: 29,839,871	R721C	probably damaging	Het
Mrpl48	G	T	7: 100,550,532		probably benign	Het
Myo18b	T	A	5: 112,840,629	R1030S	possibly damaging	Het
Nf1	T	A	11: 79,547,120	H2101Q	probably damaging	Het
Nlrp3	C	A	11: 59,549,378	L594I	probably damaging	Het
Notch2	C	T	3: 98,146,060	T2013I	probably damaging	Het
Olfr1018	A	T	2: 85,822,988	T6S	probably benign	Het
Olfr131	G	A	17: 38,082,103	L292F	possibly damaging	Het
Olfr593	C	A	7: 103,212,177	R95S	probably benign	Het
Olfr812	A	G	10: 129,842,610	L144P	probably benign	Het
Olfr845	T	C	9: 19,338,964	F168S	probably damaging	Het
Panx3	T	C	9: 37,664,056	D170G	probably damaging	Het
Pclo	A	G	5: 14,540,034	S783G	unknown	Het
Pde3b	T	A	7: 114,526,901	L790*	probably null	Het
Pik3r2	T	C	8: 70,772,348		probably benign	Het
Rassf4	A	G	6: 116,641,690	F211L	probably damaging	Het
Rbl2	C	T	8: 91,106,438	P666S	probably benign	Het
Rnf123	A	G	9: 108,058,238	F979L	probably damaging	Het
Rock2	T	A	12: 16,965,171	D788E	probably benign	Het
Serpina3b	A	G	12: 104,132,957	T244A	probably benign	Het
Setd1b	T	C	5: 123,148,513	S541P	unknown	Het
Slc12a4	T	C	8: 105,960,707	D60G	possibly damaging	Het
Stac2	T	C	11: 98,041,354	E241G	probably benign	Het
Tas2r115	A	G	6: 132,737,629	Y120H	probably damaging	Het
Txnl1	A	T	18: 63,674,191	I198N	probably damaging	Het
Ubr2	A	T	17: 46,956,654	M1049K	probably damaging	Het
Ugt2b5	T	C	5: 87,139,900	E136G	probably benign	Het
Unc13b	C	T	4: 43,241,066	T3623I	probably damaging	Het
Usp13	T	A	3: 32,919,064	S797T	probably benign	Het
Vmn1r173	A	T	7: 23,702,948	T203S	probably damaging	Het
Vwf	T	A	6: 125,645,736	I1718N	probably damaging	Het
Zfr	A	G	15: 12,159,646	H676R	probably benign	Het

Other mutations in Tmtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tmtc2	APN	10	105321446	missense	possibly damaging	0.82
IGL01284:Tmtc2	APN	10	105271511	missense	possibly damaging	0.56
IGL01317:Tmtc2	APN	10	105413785	missense	probably damaging	1.00
IGL01327:Tmtc2	APN	10	105348479	missense	probably benign	0.15
IGL02176:Tmtc2	APN	10	105348493	missense	probably benign	0.00
IGL02354:Tmtc2	APN	10	105271526	missense	probably benign	0.00
IGL02361:Tmtc2	APN	10	105271526	missense	probably benign	0.00
IGL02514:Tmtc2	APN	10	105190099	missense	possibly damaging	0.94
IGL02540:Tmtc2	APN	10	105413339	missense	probably benign	0.45
IGL02625:Tmtc2	APN	10	105370546	missense	probably damaging	1.00
IGL02938:Tmtc2	APN	10	105413296	missense	probably damaging	1.00
IGL02939:Tmtc2	APN	10	105370550	missense	probably damaging	1.00
IGL03388:Tmtc2	APN	10	105321483	splice site	probably benign
PIT4402001:Tmtc2	UTSW	10	105413407	missense	probably damaging	1.00
PIT4449001:Tmtc2	UTSW	10	105303604	missense	probably damaging	1.00
R1424:Tmtc2	UTSW	10	105413368	missense	probably benign	0.00
R1462:Tmtc2	UTSW	10	105573705	nonsense	probably null
R1462:Tmtc2	UTSW	10	105573705	nonsense	probably null
R1529:Tmtc2	UTSW	10	105303658	missense	probably damaging	1.00
R1903:Tmtc2	UTSW	10	105190108	missense	probably benign	0.00
R2225:Tmtc2	UTSW	10	105370357	missense	probably benign	0.22
R4280:Tmtc2	UTSW	10	105348433	critical splice donor site	probably null
R4602:Tmtc2	UTSW	10	105413530	missense	probably benign
R4603:Tmtc2	UTSW	10	105413530	missense	probably benign
R4624:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4625:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4628:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R4629:Tmtc2	UTSW	10	105303650	missense	probably benign	0.04
R5192:Tmtc2	UTSW	10	105190177	missense	probably damaging	1.00
R5769:Tmtc2	UTSW	10	105370046	missense	probably benign	0.00
R5846:Tmtc2	UTSW	10	105271441	intron	probably benign
R5892:Tmtc2	UTSW	10	105413505	missense	probably benign	0.08
R5897:Tmtc2	UTSW	10	105413598	missense	probably damaging	1.00
R6362:Tmtc2	UTSW	10	105369970	missense	probably damaging	1.00
R6391:Tmtc2	UTSW	10	105573690	missense	probably benign	0.06
R6640:Tmtc2	UTSW	10	105573749	start codon destroyed	probably benign	0.01
R6812:Tmtc2	UTSW	10	105413269	missense	probably benign	0.01
R6975:Tmtc2	UTSW	10	105323002	missense	probably benign	0.01
R7042:Tmtc2	UTSW	10	105370616	missense	probably damaging	1.00
R7063:Tmtc2	UTSW	10	105348525	missense	probably damaging	1.00
R7211:Tmtc2	UTSW	10	105573726	missense	probably benign	0.31
R7288:Tmtc2	UTSW	10	105413608	missense	probably damaging	1.00
R7576:Tmtc2	UTSW	10	105370621	missense	probably damaging	1.00
R7728:Tmtc2	UTSW	10	105271497	critical splice donor site	probably null
R7850:Tmtc2	UTSW	10	105573707	missense	probably benign	0.01
R8024:Tmtc2	UTSW	10	105190126	missense	probably benign	0.37
R8417:Tmtc2	UTSW	10	105413236	missense	probably damaging	0.98
R8697:Tmtc2	UTSW	10	105369970	missense	probably damaging	1.00
R8913:Tmtc2	UTSW	10	105323026	missense	probably damaging	1.00
R9409:Tmtc2	UTSW	10	105323558	missense	probably damaging	1.00
Z1176:Tmtc2	UTSW	10	105303622	missense	probably damaging	1.00

Posted On

2013-12-09