Mutagenetix > Incidental Mutation

Incidental Mutation 'R9043:Tmeff2'

687808

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

068870-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9043 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50951946-51226429 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 51018779 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 254 (V254M)

Ref Sequence

ENSEMBL: ENSMUSP00000110212 (fasta)

Gene Model

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

AlphaFold

Q9QYM9

Predicted Effect

probably benign
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

Predicted Effect

unknown
Transcript: ENSMUST00000114565
AA Change: V254M

SMART Domains

Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: V254M

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

Meta Mutation Damage Score

0.0852

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.0%

Validation Efficiency

99% (87/88)

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: 85 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933402J07Rik	T	A	8: 88,309,238 (GRCm39)	S134T	possibly damaging	Het
Aadacl4	T	A	4: 144,349,790 (GRCm39)	L349Q	probably damaging	Het
Ankrd29	T	C	18: 12,428,970 (GRCm39)	N33S	probably damaging	Het
Arid3b	T	C	9: 57,699,900 (GRCm39)	S536G	possibly damaging	Het
Art5	A	C	7: 101,748,699 (GRCm39)	M1R	probably null	Het
Arvcf	T	A	16: 18,218,452 (GRCm39)	C545S	probably damaging	Het
Atpsckmt	A	G	15: 31,617,101 (GRCm39)	T189A	probably benign	Het
Axin2	T	A	11: 108,833,794 (GRCm39)	N580K	probably benign	Het
Cdh23	T	G	10: 60,151,478 (GRCm39)	D2469A	probably benign	Het
Cep350	T	A	1: 155,773,228 (GRCm39)	T1781S	probably damaging	Het
Cfap65	T	A	1: 74,943,847 (GRCm39)	T1555S	possibly damaging	Het
Chga	G	A	12: 102,529,054 (GRCm39)	E344K	possibly damaging	Het
Ckap2l	A	T	2: 129,126,892 (GRCm39)	L429M	probably damaging	Het
Cpne7	C	T	8: 123,856,951 (GRCm39)	P402L	probably damaging	Het
Cyp2g1	A	G	7: 26,509,256 (GRCm39)	N110S	probably benign	Het
Cyp3a11	T	C	5: 145,805,995 (GRCm39)	D124G	probably benign	Het
Dgkq	A	T	5: 108,801,061 (GRCm39)	V527D	probably damaging	Het
Dnah3	T	C	7: 119,551,272 (GRCm39)	I37V	probably benign	Het
Dnah9	T	A	11: 65,845,680 (GRCm39)	E3068V		Het
Dusp23	T	C	1: 172,460,184 (GRCm39)	E89G	probably null	Het
Fam187a	A	G	11: 102,776,685 (GRCm39)	Y163C	possibly damaging	Het
Gabrg2	T	A	11: 41,865,662 (GRCm39)	I106F	probably damaging	Het
Gpc2	A	G	5: 138,277,193 (GRCm39)	I78T	probably benign	Het
Gpr149	A	C	3: 62,511,360 (GRCm39)	L213R	probably damaging	Het
Grm1	A	T	10: 10,565,056 (GRCm39)	L1084*	probably null	Het
Gypa	A	G	8: 81,222,946 (GRCm39)	T17A	unknown	Het
Gys2	A	T	6: 142,376,059 (GRCm39)	F534L	probably damaging	Het
Iqce	A	T	5: 140,651,810 (GRCm39)	M721K	probably benign	Het
Klrc2	T	A	6: 129,635,741 (GRCm39)	Y129F	probably damaging	Het
Krt14	T	C	11: 100,095,464 (GRCm39)	S314G	possibly damaging	Het
L3mbtl3	T	C	10: 26,156,152 (GRCm39)	Q685R	unknown	Het
Lamb3	A	T	1: 193,007,919 (GRCm39)	K206*	probably null	Het
Lgr5	A	G	10: 115,314,343 (GRCm39)	I198T	probably damaging	Het
Mapk10	A	T	5: 103,074,025 (GRCm39)		probably benign	Het
Mcm6	C	T	1: 128,271,231 (GRCm39)	D463N	probably damaging	Het
Med15	A	T	16: 17,470,582 (GRCm39)	W742R	probably benign	Het
Meis1	T	A	11: 18,831,916 (GRCm39)	Q374L	possibly damaging	Het
Nrxn3	T	C	12: 89,227,252 (GRCm39)	C296R	probably damaging	Het
Ntaq1	A	G	15: 58,014,004 (GRCm39)	Y67C	possibly damaging	Het
Oaf	C	T	9: 43,135,308 (GRCm39)	A157T	probably damaging	Het
Oca2	T	A	7: 55,927,189 (GRCm39)		probably null	Het
Or5b110-ps1	A	T	19: 13,260,074 (GRCm39)	M116K	probably damaging	Het
Or5b12	T	A	19: 12,897,667 (GRCm39)	E2V	probably benign	Het
Or5d36	T	A	2: 87,900,983 (GRCm39)	T248S	possibly damaging	Het
Or9k2b	A	T	10: 130,016,154 (GRCm39)	H198Q	probably benign	Het
Pacs1	A	G	19: 5,188,964 (GRCm39)	I806T	probably benign	Het
Pax2	T	A	19: 44,804,499 (GRCm39)	S257T	probably benign	Het
Pbxip1	A	T	3: 89,350,794 (GRCm39)	T72S	probably benign	Het
Pcdhb14	T	C	18: 37,581,851 (GRCm39)	I319T	probably damaging	Het
Pcdhga2	C	A	18: 37,802,963 (GRCm39)	A269E	possibly damaging	Het
Pdzph1	A	C	17: 59,280,535 (GRCm39)	N582K	probably benign	Het
Plk2	A	T	13: 110,533,194 (GRCm39)	I186F	probably damaging	Het
Pzp	A	T	6: 128,471,742 (GRCm39)	C895S	probably damaging	Het
Rasa2	A	T	9: 96,484,770 (GRCm39)	V148D	probably damaging	Het
Rgsl1	A	T	1: 153,717,567 (GRCm39)	I14N	possibly damaging	Het
Rhox3c	C	T	X: 36,651,303 (GRCm39)		probably benign	Het
Rnf213	A	G	11: 119,349,739 (GRCm39)	R3867G		Het
Rpap3	A	G	15: 97,584,443 (GRCm39)	Y334H	possibly damaging	Het
Scara3	A	C	14: 66,169,070 (GRCm39)	N182K	probably damaging	Het
Sh3bp1	A	G	15: 78,791,449 (GRCm39)	E412G	possibly damaging	Het
Sh3tc2	T	A	18: 62,122,961 (GRCm39)	I574N	possibly damaging	Het
Slc16a11	T	C	11: 70,106,520 (GRCm39)	Y253H	probably damaging	Het
Slc38a4	A	T	15: 96,906,805 (GRCm39)	V311E	possibly damaging	Het
Slc4a7	T	C	14: 14,775,048 (GRCm38)	L826P	probably damaging	Het
Spag9	T	G	11: 93,951,085 (GRCm39)	V83G		Het
Sspo	T	G	6: 48,470,214 (GRCm39)	V4560G	probably benign	Het
Stxbp2	T	A	8: 3,684,478 (GRCm39)	F144I		Het
Tafa2	T	C	10: 123,540,294 (GRCm39)	V50A	probably damaging	Het
Tdh	T	C	14: 63,730,278 (GRCm39)	I334V	probably benign	Het
Tesk2	C	A	4: 116,660,148 (GRCm39)	S451Y	probably benign	Het
Tjp1	A	T	7: 64,962,679 (GRCm39)	V1166E	probably benign	Het
Tmem126a	A	G	7: 90,100,749 (GRCm39)		probably null	Het
Togaram2	C	G	17: 71,993,699 (GRCm39)	P2A	probably benign	Het
Trappc14	G	A	5: 138,259,889 (GRCm39)	T389I	possibly damaging	Het
Tssk4	C	T	14: 55,889,211 (GRCm39)	R246W	probably damaging	Het
Tubal3	C	T	13: 3,982,708 (GRCm39)	R163*	probably null	Het
Usp48	G	A	4: 137,340,996 (GRCm39)	G332E	probably benign	Het
Vezt	T	C	10: 93,820,027 (GRCm39)	N446S	probably damaging	Het
Vim	A	T	2: 13,579,249 (GRCm39)	T3S	unknown	Het
Vmn2r45	A	G	7: 8,474,904 (GRCm39)	L708P	possibly damaging	Het
Yes1	A	G	5: 32,810,312 (GRCm39)	Y157C	probably damaging	Het
Zfp358	A	G	8: 3,545,810 (GRCm39)	T131A	probably benign	Het
Zfp426	C	T	9: 20,386,308 (GRCm39)	V58M	probably damaging	Het
Zfp692	T	C	11: 58,198,550 (GRCm39)	S47P	probably damaging	Het
Zfp719	A	T	7: 43,239,605 (GRCm39)	T398S	possibly 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
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

Predicted Primers

PCR Primer
(F):5'- AAAATGCGAACCTGACATGC -3'
(R):5'- CTATGAAGCAGAGACCCGAG -3'

Sequencing Primer
(F):5'- CTGGAGTGAGCCTTTTCTACAAGC -3'
(R):5'- CAGAGACCCGAGTGTGTGTG -3'

Posted On

2021-11-19