Mutagenetix > Incidental Mutations

Incidental Mutation 'R7332:Tmeff2'

569269

Institutional Source

Beutler Lab

Gene Symbol

Tmeff2

Ensembl Gene

ENSMUSG00000026109

Gene Name

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

Synonyms

4832418D20Rik, 7630402F16Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R7332 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50900647-51187270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 50979440 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 194 (W194R)

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: W194R

SMART Domains

Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: W194R

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: 100.0%
10x: 99.7%
20x: 99.1%

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afap1l2	A	G	19: 56,918,121	S449P	probably damaging	Het
Atp6v0c	A	C	17: 24,169,224	S21A	probably benign	Het
Cacna1e	T	C	1: 154,725,801	Y40C	possibly damaging	Het
Cdadc1	A	G	14: 59,575,764	I398T	possibly damaging	Het
Cfap44	T	A	16: 44,429,828	D756E	probably damaging	Het
Clcnkb	A	T	4: 141,413,932	L104Q	probably null	Het
Clk1	G	A	1: 58,412,694	H421Y	probably benign	Het
Cmpk2	A	T	12: 26,478,062	D426V	probably damaging	Het
Cmya5	A	G	13: 93,092,553	L2009S	possibly damaging	Het
Col5a2	C	G	1: 45,380,165	D1252H	probably damaging	Het
Coro1b	A	G	19: 4,149,357	K5R	probably benign	Het
Csmd2	A	G	4: 128,419,567	T1346A		Het
Csrp1	G	T	1: 135,739,411	W4L	probably benign	Het
Cyp3a25	A	G	5: 145,993,007	I184T	probably damaging	Het
Egfl7	C	A	2: 26,590,713	R128S	probably benign	Het
Fggy	A	T	4: 95,623,482	N157I	probably damaging	Het
Gldc	A	T	19: 30,116,526	L697Q	probably damaging	Het
Gm10436	T	C	12: 88,176,417	T339A	possibly damaging	Het
Gm4952	T	A	19: 12,627,009	Y262N	probably damaging	Het
Gsap	T	A	5: 21,290,121	M821K	probably benign	Het
Hps1	T	C	19: 42,777,912		probably null	Het
Hsbp1l1	T	C	18: 80,236,823		probably benign	Het
Igfbp7	G	A	5: 77,351,956	T220I	probably damaging	Het
Ints3	T	C	3: 90,415,512	Q137R	probably damaging	Het
Kcna6	A	G	6: 126,739,329	F199S	possibly damaging	Het
Kirrel	T	C	3: 87,088,398	I410V	probably benign	Het
Llgl2	T	C	11: 115,848,299	V332A	probably damaging	Het
Lrrc27	A	G	7: 139,242,745	I517M	probably damaging	Het
Mas1	T	C	17: 12,842,219	T106A	probably benign	Het
Mast4	T	A	13: 102,751,424	Y1159F	possibly damaging	Het
Mmp2	A	G	8: 92,850,152	D601G	probably damaging	Het
Mycbp2	A	G	14: 103,156,453	S2891P	probably damaging	Het
Mycbp2	T	A	14: 103,197,357	I2217F	probably damaging	Het
Naip6	A	G	13: 100,300,701	V438A	possibly damaging	Het
Olfr1284	A	G	2: 111,379,393	H131R	not run	Het
Pdf	T	C	8: 107,048,541	R20G	probably benign	Het
Pfdn2	T	C	1: 171,356,594	L47P	probably damaging	Het
Pik3c2g	C	A	6: 139,896,255	N795K		Het
Ppip5k1	A	T	2: 121,311,969	V1333D	probably damaging	Het
Prss44	A	T	9: 110,815,462	I213F	probably damaging	Het
Rbm47	A	G	5: 66,026,214	Y349H	probably damaging	Het
Rcl1	A	T	19: 29,130,696	T253S	probably benign	Het
Rdh1	A	G	10: 127,759,885		probably benign	Het
Scn7a	C	T	2: 66,692,554	W935*	probably null	Het
Sec24b	T	C	3: 130,041,393	N52S	probably benign	Het
Serpinb5	A	T	1: 106,872,361	I94L	probably benign	Het
Setx	T	C	2: 29,146,626	V1041A	probably benign	Het
Slco3a1	G	A	7: 74,318,484	A496V	possibly damaging	Het
Spag5	T	A	11: 78,313,379	L486*	probably null	Het
Spink5	T	C	18: 43,982,250	I183T	probably damaging	Het
Srd5a1	T	C	13: 69,611,054	Y65C	probably benign	Het
Ssh2	T	A	11: 77,453,523	I778N	possibly damaging	Het
Sstr1	C	T	12: 58,213,386	S265L	probably damaging	Het
Syne2	T	A	12: 75,967,755		probably null	Het
Tctn1	A	T	5: 122,261,484	D92E	probably damaging	Het
Tiam2	A	G	17: 3,453,369	I940M	probably damaging	Het
Tomm20	T	C	8: 126,937,153	T94A	probably benign	Het
Ucn2	A	G	9: 108,986,464	N98S	probably benign	Het
V1rd19	A	T	7: 24,003,318	I70L	probably benign	Het
Vmn1r18	A	G	6: 57,390,518	L17P	probably benign	Het
Vmn2r61	A	G	7: 42,260,110	T20A	probably benign	Het
Wdr59	G	A	8: 111,494,354	T182I		Het
Zfp40	A	T	17: 23,176,181	C477*	probably null	Het
Zfp68	A	G	5: 138,606,568	S498P	possibly damaging	Het
Zfp729b	T	C	13: 67,609,636		probably null	Het
Zfp846	T	G	9: 20,594,225	N460K	probably benign	Het
Zim1	T	C	7: 6,677,353	Y437C	probably damaging	Het

Other mutations in Tmeff2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Tmeff2	APN	1	51185450	missense	probably damaging	1.00
IGL00707:Tmeff2	APN	1	51133053	splice site	probably null
IGL01096:Tmeff2	APN	1	50930546	splice site	probably benign
IGL01897:Tmeff2	APN	1	51132210	missense	probably damaging	1.00
IGL02797:Tmeff2	APN	1	50928047	missense	probably damaging	1.00
IGL03245:Tmeff2	APN	1	51181817	missense	probably benign	0.30
G1Funyon:Tmeff2	UTSW	1	51181837	missense	probably benign	0.00
R0454:Tmeff2	UTSW	1	50928075	missense	possibly damaging	0.92
R0975:Tmeff2	UTSW	1	50938205	splice site	probably benign
R1161:Tmeff2	UTSW	1	51181787	missense	probably damaging	1.00
R1310:Tmeff2	UTSW	1	51181787	missense	probably damaging	1.00
R1457:Tmeff2	UTSW	1	51181867	missense	probably damaging	1.00
R3001:Tmeff2	UTSW	1	51181835	missense	probably damaging	1.00
R3002:Tmeff2	UTSW	1	51181835	missense	probably damaging	1.00
R3424:Tmeff2	UTSW	1	50979617	intron	probably benign
R4807:Tmeff2	UTSW	1	50979387	missense	probably benign	0.01
R4923:Tmeff2	UTSW	1	50930645	missense	probably benign	0.29
R4977:Tmeff2	UTSW	1	50979556	nonsense	probably null
R5176:Tmeff2	UTSW	1	51071541	nonsense	probably null
R5220:Tmeff2	UTSW	1	50979317	missense	probably benign	0.01
R5919:Tmeff2	UTSW	1	51132152	nonsense	probably null
R5990:Tmeff2	UTSW	1	50979442	nonsense	probably null
R6353:Tmeff2	UTSW	1	51181826	missense	probably damaging	1.00
R6358:Tmeff2	UTSW	1	51133114	nonsense	probably null
R6925:Tmeff2	UTSW	1	50928021	missense	probably damaging	0.99
R7114:Tmeff2	UTSW	1	51185245	splice site	probably null
R7163:Tmeff2	UTSW	1	50938344	critical splice donor site	probably null
R7762:Tmeff2	UTSW	1	50979416	missense	probably benign	0.04
R8223:Tmeff2	UTSW	1	51133120	critical splice donor site	probably null
R8260:Tmeff2	UTSW	1	50938319	missense	probably damaging	0.97
R8301:Tmeff2	UTSW	1	51181837	missense	probably benign	0.00
R8535:Tmeff2	UTSW	1	51181826	missense	probably damaging	1.00
R8947:Tmeff2	UTSW	1	51181793	missense	probably damaging	1.00
R9043:Tmeff2	UTSW	1	50979620	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TTTGGATGTTACCGGACACTGG -3'
(R):5'- TTCCCCAAAGTGTCTCAGACTTAAG -3'

Sequencing Primer
(F):5'- GATGTTACCGGACACTGGAATCAC -3'
(R):5'- TGTCTCAGACTTAAGGAACTGG -3'

Posted On

2019-09-13