Mutagenetix > Incidental Mutation

Incidental Mutation 'R7114:Tmeff2'

568560

Institutional Source

Beutler Lab

Gene Symbol

Tmeff2

Ensembl Gene

ENSMUSG00000026109

Gene Name

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

Synonyms

7630402F16Rik, 4832418D20Rik

MMRRC Submission

045244-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7114 (G1)

Quality Score

168.009

Status

Validated

Chromosome

Chromosomal Location

50951946-51226429 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

T to A at 51224404 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000080533 (fasta)

Gene Model

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

AlphaFold

Q9QYM9

Predicted Effect

probably null
Transcript: ENSMUST00000081851

SMART Domains

Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (59/60)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aatk	C	T	11: 119,900,445 (GRCm39)	A1291T	probably benign	Het
Anks1b	G	A	10: 90,143,560 (GRCm39)	R523Q	probably damaging	Het
Arhgap12	T	A	18: 6,028,056 (GRCm39)	I690F	probably damaging	Het
Caln1	T	C	5: 130,868,124 (GRCm39)	V220A	possibly damaging	Het
Cd79b	T	A	11: 106,202,713 (GRCm39)	T263S	probably damaging	Het
Cep290	A	T	10: 100,379,220 (GRCm39)	K67N	probably damaging	Het
Col19a1	T	C	1: 24,377,017 (GRCm39)	T443A	possibly damaging	Het
Col25a1	A	G	3: 130,389,324 (GRCm39)	I636V	probably benign	Het
Col9a3	C	T	2: 180,245,590 (GRCm39)	P154S	unknown	Het
Cyp3a11	T	A	5: 145,795,593 (GRCm39)	M453L	probably benign	Het
Disp1	C	A	1: 182,869,030 (GRCm39)	R1130L	probably damaging	Het
Eno1b	T	C	18: 48,180,560 (GRCm39)	V246A	possibly damaging	Het
Eogt	T	C	6: 97,092,965 (GRCm39)	Y404C	probably damaging	Het
Ephx3	T	A	17: 32,404,006 (GRCm39)	E380V	possibly damaging	Het
Fancl	T	C	11: 26,357,615 (GRCm39)	L114P	probably damaging	Het
Flad1	C	T	3: 89,314,837 (GRCm39)	G287S	probably benign	Het
Gcm1	G	T	9: 77,967,061 (GRCm39)	K93N	probably damaging	Het
Golga3	T	A	5: 110,350,578 (GRCm39)	D704E	probably benign	Het
Grb14	A	C	2: 64,747,197 (GRCm39)	I451S	probably damaging	Het
Gtf3c3	T	C	1: 54,462,666 (GRCm39)	N366D	probably benign	Het
Hecw1	A	T	13: 14,486,356 (GRCm39)	H376Q	probably benign	Het
Helb	A	T	10: 119,941,161 (GRCm39)	V509E	probably benign	Het
Hephl1	C	T	9: 14,981,111 (GRCm39)	E774K	probably damaging	Het
Hkdc1	T	C	10: 62,229,622 (GRCm39)	E685G	probably damaging	Het
Igfn1	T	C	1: 135,894,519 (GRCm39)	T2016A	probably benign	Het
Igkv5-43	T	G	6: 69,800,515 (GRCm39)	Q57H	probably damaging	Het
Lamc3	T	A	2: 31,820,657 (GRCm39)	V1224E	probably damaging	Het
Lgals3bp	C	T	11: 118,284,309 (GRCm39)	W423*	probably null	Het
Mcm9	G	A	10: 53,414,669 (GRCm39)	T137I	possibly damaging	Het
Mdga1	C	A	17: 30,061,816 (GRCm39)		probably null	Het
Mocos	C	T	18: 24,799,572 (GRCm39)	P269S	probably damaging	Het
Naa40	A	G	19: 7,207,322 (GRCm39)	V134A	probably damaging	Het
Neb	G	A	2: 52,082,571 (GRCm39)	L5680F	probably damaging	Het
Nedd9	A	G	13: 41,492,099 (GRCm39)	V137A	probably benign	Het
Nup133	T	C	8: 124,642,112 (GRCm39)	I784V	probably benign	Het
Nup214	T	C	2: 31,915,256 (GRCm39)	S1147P	possibly damaging	Het
Or10x4	A	T	1: 174,218,805 (GRCm39)	M57L	probably damaging	Het
Or8g28	G	T	9: 39,169,897 (GRCm39)	Q24K	possibly damaging	Het
Plcb4	T	A	2: 135,824,043 (GRCm39)		probably null	Het
Pomt1	C	T	2: 32,143,848 (GRCm39)	T671I	probably benign	Het
Pomt2	G	T	12: 87,157,150 (GRCm39)	P723H	probably damaging	Het
Prpf8	T	A	11: 75,394,181 (GRCm39)	Y1741*	probably null	Het
Ptprs	C	G	17: 56,758,697 (GRCm39)	V175L	probably benign	Het
Slc36a4	T	C	9: 15,633,250 (GRCm39)	F95L	probably benign	Het
Smn1	C	T	13: 100,267,648 (GRCm39)	P225S	probably benign	Het
Snrpa	A	T	7: 26,891,174 (GRCm39)	I99N	probably benign	Het
Tgm5	G	T	2: 120,878,977 (GRCm39)	Y588*	probably null	Het
Tmem120b	T	C	5: 123,254,741 (GRCm39)	F314S	probably damaging	Het
Trim43b	C	T	9: 88,967,661 (GRCm39)	R325H	probably benign	Het
Vmn1r26	C	T	6: 57,985,755 (GRCm39)	A145T	probably benign	Het
Wdfy4	T	C	14: 32,693,531 (GRCm39)		probably null	Het
Wnt5a	C	A	14: 28,244,713 (GRCm39)	T320K	probably damaging	Het
Wrn	AGCAGGTAATACATACCG	AG	8: 33,775,149 (GRCm39)		probably null	Het
Zfp398	T	C	6: 47,842,910 (GRCm39)	S321P	probably benign	Het
Zfp959	T	A	17: 56,205,501 (GRCm39)	C513S	possibly damaging	Het
Zfr2	A	G	10: 81,080,559 (GRCm39)	D411G	probably damaging	Het
Zkscan5	T	A	5: 145,147,988 (GRCm39)		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
IGL02797:Tmeff2	APN	1	50,967,206 (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
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

Predicted Primers

PCR Primer
(F):5'- GTGCTGAGTCTGTTCATCACAC -3'
(R):5'- GTCTGAACTGTAGTGCCCTG -3'

Sequencing Primer
(F):5'- CTTCAGTTCTTGACAAAAGC -3'
(R):5'- AACTGTAGTGCCCTGTATTTTGC -3'

Posted On

2019-08-23