Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01284:Tmtc2'

72638

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmtc2

Ensembl Gene

ENSMUSG00000036019

Gene Name

transmembrane and tetratricopeptide repeat containing 2

Synonyms

8430438D04Rik, D330034A10Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.113) question?

Stock #

IGL01284

Quality Score

Status

Chromosome

Chromosomal Location

105023524-105410312 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 105107372 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 714 (Y714H)

Ref Sequence

ENSEMBL: ENSMUSP00000061919 (fasta)

Gene Model

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

AlphaFold

Q56A06

Predicted Effect

possibly damaging
Transcript: ENSMUST00000061506
AA Change: Y714H

PolyPhen 2 Score 0.564 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000061919
Gene: ENSMUSG00000036019
AA Change: Y714H

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aak1	A	T	6: 86,827,035 (GRCm39)	M1L	possibly damaging	Het
Agr2	A	G	12: 36,045,580 (GRCm39)	D22G	possibly damaging	Het
C9orf72	A	T	4: 35,218,808 (GRCm39)	I17N	probably damaging	Het
Cck	G	T	9: 121,319,236 (GRCm39)	N82K	probably benign	Het
Cdh23	A	T	10: 60,301,876 (GRCm39)	I402N	possibly damaging	Het
Cfap157	T	C	2: 32,671,491 (GRCm39)	D105G	possibly damaging	Het
Dhx9	C	A	1: 153,340,644 (GRCm39)	L665F	probably damaging	Het
Dlg5	T	C	14: 24,196,265 (GRCm39)	E1621G	probably damaging	Het
Dst	A	G	1: 34,203,009 (GRCm39)	Y713C	probably damaging	Het
Fbp2	T	C	13: 62,988,099 (GRCm39)	S271G	probably benign	Het
Gp5	G	T	16: 30,128,028 (GRCm39)	S215R	probably benign	Het
Kpnb1	A	G	11: 97,056,928 (GRCm39)	M647T	probably damaging	Het
Masp2	A	G	4: 148,698,464 (GRCm39)	E515G	probably damaging	Het
Mfge8	A	G	7: 78,786,530 (GRCm39)	S290P	probably damaging	Het
Negr1	C	T	3: 156,851,854 (GRCm39)	P219S	probably damaging	Het
Nkx2-6	T	C	14: 69,409,326 (GRCm39)	S26P	probably benign	Het
Or10a49	C	T	7: 108,467,482 (GRCm39)	R293K	possibly damaging	Het
Pdzd9	A	C	7: 120,259,494 (GRCm39)	Y165D	possibly damaging	Het
Pik3ca	C	T	3: 32,516,733 (GRCm39)	A987V	probably damaging	Het
Pomp	T	A	5: 147,797,491 (GRCm39)		probably benign	Het
Rbm33	A	G	5: 28,615,707 (GRCm39)	T17A	probably damaging	Het
Skic2	T	C	17: 35,058,664 (GRCm39)		probably benign	Het
Slc4a4	G	A	5: 89,277,532 (GRCm39)	A334T	probably benign	Het
Tecta	A	G	9: 42,256,916 (GRCm39)	F1587L	probably damaging	Het
Tex29	C	A	8: 11,894,231 (GRCm39)	Y46*	probably null	Het
Tgm5	A	G	2: 120,883,028 (GRCm39)	S410P	possibly damaging	Het
Tubgcp6	C	T	15: 88,994,258 (GRCm39)	R468Q	probably damaging	Het

Other mutations in Tmtc2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00571:Tmtc2	APN	10	105,157,307 (GRCm39)	missense	possibly damaging	0.82
IGL01317:Tmtc2	APN	10	105,249,646 (GRCm39)	missense	probably damaging	1.00
IGL01327:Tmtc2	APN	10	105,184,340 (GRCm39)	missense	probably benign	0.15
IGL01637:Tmtc2	APN	10	105,205,946 (GRCm39)	missense	probably benign	0.00
IGL02176:Tmtc2	APN	10	105,184,354 (GRCm39)	missense	probably benign	0.00
IGL02354:Tmtc2	APN	10	105,107,387 (GRCm39)	missense	probably benign	0.00
IGL02361:Tmtc2	APN	10	105,107,387 (GRCm39)	missense	probably benign	0.00
IGL02514:Tmtc2	APN	10	105,025,960 (GRCm39)	missense	possibly damaging	0.94
IGL02540:Tmtc2	APN	10	105,249,200 (GRCm39)	missense	probably benign	0.45
IGL02625:Tmtc2	APN	10	105,206,407 (GRCm39)	missense	probably damaging	1.00
IGL02938:Tmtc2	APN	10	105,249,157 (GRCm39)	missense	probably damaging	1.00
IGL02939:Tmtc2	APN	10	105,206,411 (GRCm39)	missense	probably damaging	1.00
IGL03388:Tmtc2	APN	10	105,157,344 (GRCm39)	splice site	probably benign
PIT4402001:Tmtc2	UTSW	10	105,249,268 (GRCm39)	missense	probably damaging	1.00
PIT4449001:Tmtc2	UTSW	10	105,139,465 (GRCm39)	missense	probably damaging	1.00
R1424:Tmtc2	UTSW	10	105,249,229 (GRCm39)	missense	probably benign	0.00
R1462:Tmtc2	UTSW	10	105,409,566 (GRCm39)	nonsense	probably null
R1462:Tmtc2	UTSW	10	105,409,566 (GRCm39)	nonsense	probably null
R1529:Tmtc2	UTSW	10	105,139,519 (GRCm39)	missense	probably damaging	1.00
R1903:Tmtc2	UTSW	10	105,025,969 (GRCm39)	missense	probably benign	0.00
R2225:Tmtc2	UTSW	10	105,206,218 (GRCm39)	missense	probably benign	0.22
R4280:Tmtc2	UTSW	10	105,184,294 (GRCm39)	critical splice donor site	probably null
R4602:Tmtc2	UTSW	10	105,249,391 (GRCm39)	missense	probably benign
R4603:Tmtc2	UTSW	10	105,249,391 (GRCm39)	missense	probably benign
R4624:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R4625:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R4628:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R4629:Tmtc2	UTSW	10	105,139,511 (GRCm39)	missense	probably benign	0.04
R5192:Tmtc2	UTSW	10	105,026,038 (GRCm39)	missense	probably damaging	1.00
R5769:Tmtc2	UTSW	10	105,205,907 (GRCm39)	missense	probably benign	0.00
R5846:Tmtc2	UTSW	10	105,107,302 (GRCm39)	intron	probably benign
R5892:Tmtc2	UTSW	10	105,249,366 (GRCm39)	missense	probably benign	0.08
R5897:Tmtc2	UTSW	10	105,249,459 (GRCm39)	missense	probably damaging	1.00
R6362:Tmtc2	UTSW	10	105,205,831 (GRCm39)	missense	probably damaging	1.00
R6391:Tmtc2	UTSW	10	105,409,551 (GRCm39)	missense	probably benign	0.06
R6640:Tmtc2	UTSW	10	105,409,610 (GRCm39)	start codon destroyed	probably benign	0.01
R6812:Tmtc2	UTSW	10	105,249,130 (GRCm39)	missense	probably benign	0.01
R6975:Tmtc2	UTSW	10	105,158,863 (GRCm39)	missense	probably benign	0.01
R7042:Tmtc2	UTSW	10	105,206,477 (GRCm39)	missense	probably damaging	1.00
R7063:Tmtc2	UTSW	10	105,184,386 (GRCm39)	missense	probably damaging	1.00
R7211:Tmtc2	UTSW	10	105,409,587 (GRCm39)	missense	probably benign	0.31
R7288:Tmtc2	UTSW	10	105,249,469 (GRCm39)	missense	probably damaging	1.00
R7576:Tmtc2	UTSW	10	105,206,482 (GRCm39)	missense	probably damaging	1.00
R7728:Tmtc2	UTSW	10	105,107,358 (GRCm39)	critical splice donor site	probably null
R7850:Tmtc2	UTSW	10	105,409,568 (GRCm39)	missense	probably benign	0.01
R8024:Tmtc2	UTSW	10	105,025,987 (GRCm39)	missense	probably benign	0.37
R8417:Tmtc2	UTSW	10	105,249,097 (GRCm39)	missense	probably damaging	0.98
R8697:Tmtc2	UTSW	10	105,205,831 (GRCm39)	missense	probably damaging	1.00
R8913:Tmtc2	UTSW	10	105,158,887 (GRCm39)	missense	probably damaging	1.00
R9409:Tmtc2	UTSW	10	105,159,419 (GRCm39)	missense	probably damaging	1.00
R9782:Tmtc2	UTSW	10	105,026,062 (GRCm39)	missense	probably damaging	1.00
Z1176:Tmtc2	UTSW	10	105,139,483 (GRCm39)	missense	probably damaging	1.00

Posted On

2013-10-07