Mutagenetix > Incidental Mutation

Incidental Mutation 'R4923:Tmeff2'

378733

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

042525-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R4923 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

50951946-51226429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 50969804 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Aspartic acid at position 90 (V90D)

Ref Sequence

ENSEMBL: ENSMUSP00000110212 (fasta)

Gene Model

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

AlphaFold

Q9QYM9

Predicted Effect

probably benign
Transcript: ENSMUST00000081851
AA Change: V90D

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: V90D

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 benign
Transcript: ENSMUST00000114565
AA Change: V90D

PolyPhen 2 Score 0.293 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: V90D

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

Meta Mutation Damage Score

0.1667

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.3%

Validation Efficiency

98% (107/109)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aim2	A	G	1: 173,287,372 (GRCm39)	D124G	probably benign	Het
Akr1c6	T	C	13: 4,504,494 (GRCm39)	M293T	probably damaging	Het
Albfm1	A	G	5: 90,709,158 (GRCm39)	T23A	probably benign	Het
Ankhd1	A	G	18: 36,722,505 (GRCm39)	T343A	probably damaging	Het
Ano2	T	C	6: 125,880,018 (GRCm39)		probably benign	Het
Arfgap2	G	A	2: 91,104,004 (GRCm39)	G353R	probably damaging	Het
Armc3	A	G	2: 19,297,791 (GRCm39)		probably null	Het
Atp11b	T	C	3: 35,889,528 (GRCm39)		probably null	Het
Brd4	A	G	17: 32,418,214 (GRCm39)	M13T	probably benign	Het
Btd	T	A	14: 31,384,044 (GRCm39)	M10K	possibly damaging	Het
C1s2	T	C	6: 124,602,649 (GRCm39)	K515E	probably benign	Het
Cars1	A	T	7: 143,123,587 (GRCm39)	Y455N	probably damaging	Het
Ccdc110	A	G	8: 46,396,460 (GRCm39)	S784G	probably benign	Het
Chic2	A	G	5: 75,171,872 (GRCm39)		probably benign	Het
Chka	A	T	19: 3,942,105 (GRCm39)		probably null	Het
Chrne	A	G	11: 70,506,101 (GRCm39)	I420T	possibly damaging	Het
Clstn1	T	C	4: 149,729,486 (GRCm39)	V747A	probably benign	Het
Cobll1	A	G	2: 64,929,602 (GRCm39)	S575P	possibly damaging	Het
Col6a6	A	T	9: 105,666,147 (GRCm39)	L3Q	probably damaging	Het
Comtd1	A	T	14: 21,898,813 (GRCm39)		probably benign	Het
Cpsf2	T	C	12: 101,948,243 (GRCm39)	V13A	probably benign	Het
Creb3l4	T	A	3: 90,149,521 (GRCm39)	I115L	probably benign	Het
Cyp2j12	C	T	4: 95,990,346 (GRCm39)	A407T	possibly damaging	Het
Ddr2	A	G	1: 169,825,498 (GRCm39)		probably null	Het
Dennd4c	T	C	4: 86,725,775 (GRCm39)	L743P	probably damaging	Het
Egfl8	T	C	17: 34,833,171 (GRCm39)	T192A	probably benign	Het
Elapor1	C	T	3: 108,379,284 (GRCm39)		probably null	Het
Elf3	A	G	1: 135,184,473 (GRCm39)		probably benign	Het
Entrep2	A	G	7: 64,417,439 (GRCm39)	S322P	probably benign	Het
Etv3	T	G	3: 87,443,223 (GRCm39)	L269R	possibly damaging	Het
Fah	C	A	7: 84,251,260 (GRCm39)		probably benign	Het
Fbll1	C	A	11: 35,688,407 (GRCm39)	L285F	probably benign	Het
Fcrla	A	T	1: 170,748,682 (GRCm39)	F154I	probably damaging	Het
Fnip2	T	A	3: 79,396,701 (GRCm39)		probably null	Het
Focad	T	C	4: 88,115,083 (GRCm39)		probably benign	Het
Gabrr1	T	A	4: 33,162,820 (GRCm39)	I462N	possibly damaging	Het
Gm57859	C	A	11: 113,579,805 (GRCm39)	T400K	probably benign	Het
Gnptab	A	G	10: 88,265,485 (GRCm39)	T366A	probably benign	Het
Hnrnpu	G	A	1: 178,159,017 (GRCm39)		probably benign	Het
Il17ra	T	A	6: 120,454,406 (GRCm39)	V299E	possibly damaging	Het
Impg1	G	A	9: 80,252,360 (GRCm39)	Q607*	probably null	Het
Impg1	T	A	9: 80,252,827 (GRCm39)	E374V	probably damaging	Het
Itgax	C	T	7: 127,747,700 (GRCm39)	L1039F	probably benign	Het
Kcnk2	A	T	1: 189,072,133 (GRCm39)	V65D	probably damaging	Het
Kif20b	A	C	19: 34,918,611 (GRCm39)		probably null	Het
Krt9	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	TCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCCCCCACTTCCTCCTCCATAGCTGCC	11: 100,079,903 (GRCm39)		probably benign	Het
Lama5	T	G	2: 179,825,942 (GRCm39)	I2372L	probably benign	Het
Lilrb4a	A	G	10: 51,368,139 (GRCm39)	T85A	possibly damaging	Het
Mapk13	C	A	17: 28,997,197 (GRCm39)	H330N	probably benign	Het
Mars1	C	A	10: 127,132,549 (GRCm39)		probably benign	Het
Mdga1	C	A	17: 30,057,052 (GRCm39)	R818L	probably damaging	Het
Mdn1	T	A	4: 32,671,608 (GRCm39)	L476Q	possibly damaging	Het
Mup21	T	C	4: 62,066,202 (GRCm39)	E178G	probably benign	Het
Myg1	A	G	15: 102,240,288 (GRCm39)	N38S	probably benign	Het
Ncam1	A	T	9: 49,416,779 (GRCm39)	D837E	probably benign	Het
Ncam2	C	T	16: 81,386,679 (GRCm39)	P686L	possibly damaging	Het
Nck2	T	C	1: 43,500,231 (GRCm39)		probably benign	Het
Nfya	T	C	17: 48,707,563 (GRCm39)		probably benign	Het
Npat	A	G	9: 53,482,330 (GRCm39)	K1346R	probably damaging	Het
Odad2	C	G	18: 7,181,787 (GRCm39)	D846H	probably damaging	Het
Or12j3	G	T	7: 139,952,920 (GRCm39)	T201K	probably benign	Het
Or4a72	T	C	2: 89,406,023 (GRCm39)	T16A	probably damaging	Het
Or6c212	A	G	10: 129,558,681 (GRCm39)	V244A	probably benign	Het
Pde7b	G	T	10: 20,288,873 (GRCm39)	Q325K	probably damaging	Het
Pla2r1	A	T	2: 60,253,056 (GRCm39)	M1345K	probably benign	Het
Prkcz	T	C	4: 155,441,946 (GRCm39)	D62G	probably damaging	Het
Pros1	T	A	16: 62,723,935 (GRCm39)	C228S	possibly damaging	Het
Ptprc	A	G	1: 138,006,236 (GRCm39)	M782T	possibly damaging	Het
Rcn1	T	C	2: 105,219,518 (GRCm39)	D225G	probably benign	Het
Recql4	G	A	15: 76,594,381 (GRCm39)	R46C	probably damaging	Het
Rnf220	C	T	4: 117,346,797 (GRCm39)	R205Q	possibly damaging	Het
Samd13	T	C	3: 146,368,502 (GRCm39)	D11G	probably benign	Het
Scp2d1	T	A	2: 144,666,030 (GRCm39)	I123K	probably benign	Het
Skap1	A	T	11: 96,644,870 (GRCm39)	Y311F	probably damaging	Het
Slc2a10	T	C	2: 165,356,676 (GRCm39)	I112T	possibly damaging	Het
Slc34a1	G	A	13: 24,003,078 (GRCm39)	V243M	probably benign	Het
Slc39a2	G	A	14: 52,132,711 (GRCm39)	G218D	probably damaging	Het
Sos1	T	C	17: 80,742,381 (GRCm39)	N382S	probably benign	Het
Spam1	C	T	6: 24,796,655 (GRCm39)	T202I	probably damaging	Het
Tas2r138	T	A	6: 40,589,820 (GRCm39)	Q142L	possibly damaging	Het
Tec	T	A	5: 72,939,365 (GRCm39)	R217*	probably null	Het
Tmem119	T	C	5: 113,933,405 (GRCm39)	Y132C	probably damaging	Het
Topbp1	A	G	9: 103,190,035 (GRCm39)	I204V	probably benign	Het
Trappc14	A	T	5: 138,260,641 (GRCm39)		probably benign	Het
Ttn	A	T	2: 76,601,232 (GRCm39)	I17001N	probably damaging	Het
Vit	T	A	17: 78,894,270 (GRCm39)	M224K	probably benign	Het
Vmn1r179	T	G	7: 23,628,491 (GRCm39)	H227Q	possibly damaging	Het
Vmn1r84	T	C	7: 12,095,743 (GRCm39)	N305D	probably benign	Het
Vmn2r61	A	G	7: 41,916,520 (GRCm39)	N378D	probably damaging	Het
Vmn2r87	A	G	10: 130,314,435 (GRCm39)	Y384H	probably damaging	Het
Wiz	C	T	17: 32,580,570 (GRCm39)	A294T	probably benign	Het
Xdh	C	A	17: 74,231,931 (GRCm39)	V260L	possibly damaging	Het
Xirp2	A	G	2: 67,343,237 (GRCm39)	K1826R	probably benign	Het
Zfp445	A	C	9: 122,681,358 (GRCm39)	I861R	probably benign	Het
Zfp691	T	C	4: 119,027,999 (GRCm39)	T78A	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
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

Predicted Primers

PCR Primer
(F):5'- ATTAGTAGAAGGCACACTTGTGG -3'
(R):5'- GTCACCTTGACATCAGCTTGC -3'

Sequencing Primer
(F):5'- GCACACTTGTGGCTGTTG -3'
(R):5'- AGCTTGCTCTCTTGCCAGTAC -3'

Posted On

2016-04-15