Mutagenetix > Incidental Mutation

Incidental Mutation 'R5919:Tmeff2'

462538

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

044116-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5919 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50951946-51226429 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

C to A at 51171311 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Stop codon at position 182 (C182*)

Ref Sequence

ENSEMBL: ENSMUSP00000080533 (fasta)

Gene Model

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

AlphaFold

Q9QYM9

Predicted Effect

probably null
Transcript: ENSMUST00000081851
AA Change: C182*

SMART Domains

Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: C182*

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

Meta Mutation Damage Score

0.9755

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 98.1%
20x: 94.5%

Validation Efficiency

100% (68/68)

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: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700025G04Rik	T	C	1: 151,791,249 (GRCm39)	D104G	probably damaging	Het
6030458C11Rik	A	T	15: 12,823,754 (GRCm39)	H40Q	probably damaging	Het
Abcc3	A	G	11: 94,248,132 (GRCm39)	V1156A	possibly damaging	Het
Adgrl1	G	T	8: 84,659,239 (GRCm39)	D648Y	probably damaging	Het
Adgrl3	C	A	5: 81,794,417 (GRCm39)	D547E	probably benign	Het
Aebp1	A	T	11: 5,821,421 (GRCm39)	M607L	probably benign	Het
Angptl1	T	C	1: 156,686,116 (GRCm39)	Y401H	probably damaging	Het
Arl4d	A	G	11: 101,557,962 (GRCm39)	T163A	probably benign	Het
Bltp2	A	T	11: 78,180,176 (GRCm39)	N2152I	probably damaging	Het
Camk2b	A	G	11: 5,929,718 (GRCm39)	S331P	probably damaging	Het
Ccdc15	C	T	9: 37,231,692 (GRCm39)		probably null	Het
Ccdc168	T	C	1: 44,096,146 (GRCm39)	N1651D	probably benign	Het
Ccdc38	A	T	10: 93,414,700 (GRCm39)	I370F	possibly damaging	Het
Clstn1	A	T	4: 149,719,703 (GRCm39)	H416L	probably damaging	Het
Col12a1	C	T	9: 79,509,580 (GRCm39)	R3030H	probably damaging	Het
Cop1	T	A	1: 159,147,294 (GRCm39)	V540E	probably damaging	Het
Crebbp	C	T	16: 3,925,991 (GRCm39)	R710H	probably damaging	Het
Dsel	T	C	1: 111,787,983 (GRCm39)	I851V	probably benign	Het
Esrp1	A	G	4: 11,344,146 (GRCm39)	V642A	probably damaging	Het
Fanci	T	C	7: 79,094,486 (GRCm39)	L1139P	probably damaging	Het
Fat1	T	C	8: 45,479,910 (GRCm39)		probably null	Het
Fsip2	A	G	2: 82,822,953 (GRCm39)	N6229D	possibly damaging	Het
Garin5b	T	C	7: 4,773,385 (GRCm39)	E144G	possibly damaging	Het
Gas2l3	G	A	10: 89,252,917 (GRCm39)	R243W	probably damaging	Het
Hectd1	G	A	12: 51,815,855 (GRCm39)	R1406W	probably damaging	Het
Hecw2	T	C	1: 53,976,249 (GRCm39)	H180R	probably damaging	Het
Ift172	T	A	5: 31,418,006 (GRCm39)	Q1261L	possibly damaging	Het
Il17rd	T	C	14: 26,818,001 (GRCm39)	V230A	probably damaging	Het
Kif17	A	T	4: 137,997,202 (GRCm39)	I42F	probably damaging	Het
Kif24	T	C	4: 41,394,477 (GRCm39)	K799E	possibly damaging	Het
Lrp4	A	T	2: 91,303,552 (GRCm39)	I84F	probably damaging	Het
Mplkipl1	T	C	19: 61,163,907 (GRCm39)	Y176C	probably damaging	Het
Mroh7	T	C	4: 106,551,509 (GRCm39)		probably null	Het
Ms4a14	C	A	19: 11,291,661 (GRCm39)	V13F	possibly damaging	Het
Muc2	T	A	7: 141,281,171 (GRCm39)	V445D	probably damaging	Het
Muc6	A	T	7: 141,227,837 (GRCm39)	M1317K	possibly damaging	Het
Myof	T	A	19: 38,012,818 (GRCm39)	D39V	possibly damaging	Het
Ndufaf1	A	C	2: 119,490,709 (GRCm39)	V117G	possibly damaging	Het
Ndufs1	C	G	1: 63,182,991 (GRCm39)	*728S	probably null	Het
Nup188	A	T	2: 30,229,906 (GRCm39)	N1375Y	probably damaging	Het
Oasl1	T	A	5: 115,066,329 (GRCm39)	I149N	probably damaging	Het
Or9i16	A	G	19: 13,865,209 (GRCm39)	Y122H	probably damaging	Het
Pelo	C	A	13: 115,225,845 (GRCm39)	C204F	possibly damaging	Het
Phf11d	A	C	14: 59,593,712 (GRCm39)		probably benign	Het
Rars2	T	C	4: 34,657,232 (GRCm39)	L526P	probably damaging	Het
Rrp1	A	G	10: 78,241,422 (GRCm39)	L177P	probably damaging	Het
S100a9	A	G	3: 90,602,495 (GRCm39)	L33P	probably damaging	Het
Slc4a7	A	G	14: 14,791,092 (GRCm38)	D1045G	probably benign	Het
Slc9a3	C	T	13: 74,306,859 (GRCm39)	T328I	probably damaging	Het
Spata6	A	G	4: 111,636,405 (GRCm39)	D232G	probably damaging	Het
Taar6	A	T	10: 23,861,168 (GRCm39)	I126N	probably damaging	Het
Tmem178	T	A	17: 81,297,187 (GRCm39)	C190S	probably damaging	Het
Trerf1	T	G	17: 47,634,208 (GRCm39)		noncoding transcript	Het
Trgv6	A	G	13: 19,374,782 (GRCm39)	Y16C	probably benign	Het
Ubn2	A	G	6: 38,468,423 (GRCm39)	I1046V	possibly damaging	Het
Vmn1r221	A	T	13: 23,401,466 (GRCm39)		noncoding transcript	Het
Vmn2r2	T	C	3: 64,044,723 (GRCm39)	N141S	probably benign	Het
Zfp64	T	A	2: 168,768,419 (GRCm39)	N398Y	probably benign	Het
Zfp787	T	G	7: 6,135,834 (GRCm39)	Q139P	probably damaging	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
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

Predicted Primers

PCR Primer
(F):5'- TGTGTTGCATTTCATCTCAGAAAGC -3'
(R):5'- AGGTGCCTGATAACGAGTTATCC -3'

Sequencing Primer
(F):5'- TCAGAAAGCTGGAAGACCTTCTCTG -3'
(R):5'- GTGCCTGATAACGAGTTATCCTTCTC -3'

Posted On

2017-02-28