Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02797:Tmeff2'

359989

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Tmeff2

Ensembl Gene

ENSMUSG00000026109

Gene Name

transmembrane protein with EGF-like and two follistatin-like domains 2

Synonyms

7630402F16Rik, 4832418D20Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02797

Quality Score

Status

Chromosome

Chromosomal Location

50951946-51226429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 50967206 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Cysteine at position 34 (R34C)

Ref Sequence

ENSEMBL: ENSMUSP00000110212 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000081851] [ENSMUST00000114565]

AlphaFold

Q9QYM9

Predicted Effect

probably damaging
Transcript: ENSMUST00000081851
AA Change: R34C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: R34C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
KAZAL	90	135	1.54e-14	SMART
KAZAL	181	227	6.05e-13	SMART
EGF	264	301	3.57e-2	SMART
transmembrane domain	319	341	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000114565
AA Change: R34C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: R34C

Domain	Start	End	E-Value	Type
transmembrane domain	13	32	N/A	INTRINSIC
KAZAL	90	135	1.54e-14	SMART

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 member of the tomoregulin family of transmembrane proteins. This protein has been shown to function as both an oncogene and a tumor suppressor depending on the cellular context and may regulate prostate cancer cell invasion. Multiple soluble forms of this protein have been identified that arise from both an alternative splice variant and ectodomain shedding. Additionally, this gene has been found to be hypermethylated in multiple cancer types. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Feb 2015]
PHENOTYPE: Mice homozygous for a reporter allele display slow postnatal weight gain, decreased white adipose tissue amount, and complete lethality at weaning. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc5	A	G	16: 20,187,214 (GRCm39)	M924T	probably benign	Het
Afg2a	A	G	3: 37,512,465 (GRCm39)		probably benign	Het
B3gat2	A	G	1: 23,854,360 (GRCm39)	Y218C	probably damaging	Het
Bcs1l	T	C	1: 74,629,620 (GRCm39)		probably null	Het
Cd109	T	A	9: 78,568,995 (GRCm39)	I358N	probably damaging	Het
Cd276	T	C	9: 58,444,719 (GRCm39)	D84G	possibly damaging	Het
Chsy1	T	C	7: 65,821,412 (GRCm39)	F549S	probably damaging	Het
Clca3a2	T	C	3: 144,787,024 (GRCm39)	N549S	probably benign	Het
Cma1	A	G	14: 56,181,271 (GRCm39)	S32P	possibly damaging	Het
Col23a1	G	A	11: 51,452,743 (GRCm39)		probably null	Het
Ctps1	A	T	4: 120,420,021 (GRCm39)	I131K	probably benign	Het
Cyp2w1	T	C	5: 139,342,628 (GRCm39)	L441P	probably damaging	Het
Dnajc21	A	G	15: 10,461,441 (GRCm39)	Y170H	probably damaging	Het
Eif3a	A	T	19: 60,761,164 (GRCm39)	L648Q	probably damaging	Het
Eif3l	T	A	15: 78,959,477 (GRCm39)	D6E	probably benign	Het
Fam228a	A	T	12: 4,781,484 (GRCm39)	L125Q	probably damaging	Het
Foxa2	A	G	2: 147,886,045 (GRCm39)	C263R	possibly damaging	Het
Gm17455	A	G	10: 60,239,107 (GRCm39)	E124G	possibly damaging	Het
Gpc6	T	G	14: 117,163,394 (GRCm39)	L16R	probably damaging	Het
Hdac9	A	G	12: 34,443,273 (GRCm39)		probably benign	Het
Herc3	A	G	6: 58,845,679 (GRCm39)	N400S	probably benign	Het
Herc4	G	A	10: 63,152,586 (GRCm39)		probably null	Het
Il12b	A	G	11: 44,301,180 (GRCm39)		probably null	Het
Lama4	A	G	10: 38,932,920 (GRCm39)	R599G	probably null	Het
Lrp1b	T	A	2: 41,561,069 (GRCm39)	E286V		Het
Mink1	C	T	11: 70,501,176 (GRCm39)	P784S	probably damaging	Het
Musk	T	C	4: 58,366,921 (GRCm39)	F513S	probably benign	Het
Nfasc	T	A	1: 132,538,186 (GRCm39)	D474V	probably damaging	Het
Nhsl3	C	T	4: 129,117,104 (GRCm39)	R565H	probably damaging	Het
Nos2	T	G	11: 78,831,170 (GRCm39)	F420V	probably damaging	Het
Or52ab2	A	T	7: 102,970,058 (GRCm39)	I147L	probably benign	Het
Pcdhb14	A	G	18: 37,582,904 (GRCm39)	Y670C	probably damaging	Het
Polr1b	A	G	2: 128,944,899 (GRCm39)	E65G	probably damaging	Het
Ppp1r10	T	G	17: 36,238,904 (GRCm39)		probably null	Het
Prag1	C	T	8: 36,606,655 (GRCm39)	R799C	probably damaging	Het
Prb1c	T	A	6: 132,340,008 (GRCm39)		probably null	Het
Ptch1	T	C	13: 63,681,421 (GRCm39)	N485S	probably benign	Het
Rgsl1	T	C	1: 153,683,454 (GRCm39)	T19A	probably damaging	Het
Sgpl1	A	C	10: 60,937,507 (GRCm39)	S507A	probably benign	Het
Sgpp2	A	G	1: 78,393,819 (GRCm39)	D274G	probably benign	Het
Skap1	A	G	11: 96,603,843 (GRCm39)	D211G	possibly damaging	Het
Smc3	A	G	19: 53,627,189 (GRCm39)	T830A	probably benign	Het
Smpd2	G	A	10: 41,364,074 (GRCm39)	T215I	possibly damaging	Het
Sntg2	T	G	12: 30,276,891 (GRCm39)	Y387S	possibly damaging	Het
Sorl1	T	G	9: 41,948,355 (GRCm39)	D810A	probably damaging	Het
Spop	T	A	11: 95,372,909 (GRCm39)	I217N	probably damaging	Het
Stac2	T	C	11: 97,934,345 (GRCm39)	R120G	possibly damaging	Het
Stau1	A	T	2: 166,791,266 (GRCm39)	*496R	probably null	Het
Treml2	C	T	17: 48,609,739 (GRCm39)	A57V	possibly damaging	Het
Vmn2r15	T	C	5: 109,445,250 (GRCm39)	D58G	probably benign	Het
Vmn2r7	T	C	3: 64,598,666 (GRCm39)	I721M	possibly damaging	Het
Vmn2r70	C	A	7: 85,208,295 (GRCm39)	M727I	probably benign	Het
Vwa8	T	A	14: 79,162,702 (GRCm39)	C161S	probably benign	Het

Other mutations in Tmeff2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Tmeff2	APN	1	51,224,609 (GRCm39)	missense	probably damaging	1.00
IGL00707:Tmeff2	APN	1	51,172,212 (GRCm39)	splice site	probably null
IGL01096:Tmeff2	APN	1	50,969,705 (GRCm39)	splice site	probably benign
IGL01897:Tmeff2	APN	1	51,171,369 (GRCm39)	missense	probably damaging	1.00
IGL03245:Tmeff2	APN	1	51,220,976 (GRCm39)	missense	probably benign	0.30
G1Funyon:Tmeff2	UTSW	1	51,220,996 (GRCm39)	missense	probably benign	0.00
R0454:Tmeff2	UTSW	1	50,967,234 (GRCm39)	missense	possibly damaging	0.92
R0975:Tmeff2	UTSW	1	50,977,364 (GRCm39)	splice site	probably benign
R1161:Tmeff2	UTSW	1	51,220,946 (GRCm39)	missense	probably damaging	1.00
R1310:Tmeff2	UTSW	1	51,220,946 (GRCm39)	missense	probably damaging	1.00
R1457:Tmeff2	UTSW	1	51,221,026 (GRCm39)	missense	probably damaging	1.00
R3001:Tmeff2	UTSW	1	51,220,994 (GRCm39)	missense	probably damaging	1.00
R3002:Tmeff2	UTSW	1	51,220,994 (GRCm39)	missense	probably damaging	1.00
R3424:Tmeff2	UTSW	1	51,018,776 (GRCm39)	intron	probably benign
R4807:Tmeff2	UTSW	1	51,018,546 (GRCm39)	missense	probably benign	0.01
R4923:Tmeff2	UTSW	1	50,969,804 (GRCm39)	missense	probably benign	0.29
R4977:Tmeff2	UTSW	1	51,018,715 (GRCm39)	nonsense	probably null
R5176:Tmeff2	UTSW	1	51,110,700 (GRCm39)	nonsense	probably null
R5220:Tmeff2	UTSW	1	51,018,476 (GRCm39)	missense	probably benign	0.01
R5919:Tmeff2	UTSW	1	51,171,311 (GRCm39)	nonsense	probably null
R5990:Tmeff2	UTSW	1	51,018,601 (GRCm39)	nonsense	probably null
R6353:Tmeff2	UTSW	1	51,220,985 (GRCm39)	missense	probably damaging	1.00
R6358:Tmeff2	UTSW	1	51,172,273 (GRCm39)	nonsense	probably null
R6925:Tmeff2	UTSW	1	50,967,180 (GRCm39)	missense	probably damaging	0.99
R7114:Tmeff2	UTSW	1	51,224,404 (GRCm39)	splice site	probably null
R7163:Tmeff2	UTSW	1	50,977,503 (GRCm39)	critical splice donor site	probably null
R7332:Tmeff2	UTSW	1	51,018,599 (GRCm39)	missense	unknown
R7762:Tmeff2	UTSW	1	51,018,575 (GRCm39)	missense	probably benign	0.04
R8223:Tmeff2	UTSW	1	51,172,279 (GRCm39)	critical splice donor site	probably null
R8260:Tmeff2	UTSW	1	50,977,478 (GRCm39)	missense	probably damaging	0.97
R8301:Tmeff2	UTSW	1	51,220,996 (GRCm39)	missense	probably benign	0.00
R8535:Tmeff2	UTSW	1	51,220,985 (GRCm39)	missense	probably damaging	1.00
R8947:Tmeff2	UTSW	1	51,220,952 (GRCm39)	missense	probably damaging	1.00
R9043:Tmeff2	UTSW	1	51,018,779 (GRCm39)	missense	unknown

Posted On

2015-12-18