Mutagenetix > Incidental Mutation

Incidental Mutation 'R7762:Tmeff2'

597907

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

045818-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7762 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

50900647-51187270 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 50979416 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 186 (N186Y)

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

probably benign
Transcript: ENSMUST00000114565
AA Change: N186Y

PolyPhen 2 Score 0.044 (Sensitivity: 0.94; Specificity: 0.83)

SMART Domains

Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: N186Y

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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (79/79)

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1600015I10Rik	G	A	6: 48,932,686 (GRCm38)	V622I	probably benign	Het
9130011E15Rik	A	G	19: 45,940,443 (GRCm38)		probably null	Het
Acod1	T	G	14: 103,051,340 (GRCm38)	D95E	probably damaging	Het
Agpat4	A	G	17: 12,210,322 (GRCm38)	T154A	possibly damaging	Het
Ahnak2	A	T	12: 112,775,680 (GRCm38)	S653T	probably benign	Het
Aox2	C	T	1: 58,349,104 (GRCm38)	P1124S	probably damaging	Het
Atp4a	T	C	7: 30,720,036 (GRCm38)	I637T	probably damaging	Het
Atxn7	T	A	14: 14,100,467 (GRCm38)	C718S	probably damaging	Het
Btbd2	T	A	10: 80,643,556 (GRCm38)	I516F	probably damaging	Het
Card6	A	G	15: 5,105,338 (GRCm38)	S128P	probably benign	Het
Cat	T	C	2: 103,456,858 (GRCm38)	K476E	probably benign	Het
Ccr9	A	T	9: 123,779,957 (GRCm38)	T235S	probably benign	Het
Cep55	T	G	19: 38,069,069 (GRCm38)		probably null	Het
Clec2e	A	G	6: 129,095,128 (GRCm38)	F96S	possibly damaging	Het
Clk2	G	A	3: 89,167,191 (GRCm38)	V53I	probably benign	Het
Clnk	T	C	5: 38,768,141 (GRCm38)	M106V	probably benign	Het
Col6a5	T	C	9: 105,931,324 (GRCm38)	I842V	unknown	Het
Csf1r	A	T	18: 61,110,500 (GRCm38)	N196I	probably benign	Het
D5Ertd579e	A	T	5: 36,613,381 (GRCm38)	N116K		Het
Dnaja4	A	G	9: 54,709,210 (GRCm38)	I166V	probably benign	Het
Dqx1	A	G	6: 83,061,032 (GRCm38)	E467G	probably damaging	Het
Dync2h1	T	C	9: 7,129,719 (GRCm38)	T1760A	probably benign	Het
Eea1	T	C	10: 96,028,439 (GRCm38)	V940A	probably benign	Het
Egr1	T	A	18: 34,863,545 (GRCm38)	V460E	probably damaging	Het
Eral1	A	G	11: 78,074,533 (GRCm38)	I352T	possibly damaging	Het
F2	T	C	2: 91,628,696 (GRCm38)	H476R	possibly damaging	Het
Fam83b	A	G	9: 76,492,432 (GRCm38)	V463A	possibly damaging	Het
Fat1	T	C	8: 45,023,322 (GRCm38)	S1802P	probably damaging	Het
Fat1	T	A	8: 45,037,337 (GRCm38)	L3762H	probably damaging	Het
Fibp	A	T	19: 5,464,174 (GRCm38)	N296Y	probably benign	Het
Figla	A	G	6: 86,017,326 (GRCm38)	M28V	probably benign	Het
Foxd3	C	A	4: 99,657,125 (GRCm38)	Y167*	probably null	Het
Gm17019	T	A	5: 15,030,992 (GRCm38)	H145L	probably benign	Het
Gm340	T	C	19: 41,583,667 (GRCm38)	L287S	probably benign	Het
Gm48552	C	T	10: 81,390,435 (GRCm38)	P18L	probably damaging	Het
Gm9573	G	A	17: 35,622,085 (GRCm38)	T403I	unknown	Het
H2-Q6	A	G	17: 35,428,101 (GRCm38)	N283S	probably benign	Het
Hrh2	T	A	13: 54,214,039 (GRCm38)	C11*	probably null	Het
Hrnr	G	T	3: 93,332,199 (GRCm38)	G3248V	unknown	Het
Iapp	C	A	6: 142,303,396 (GRCm38)	N58K	possibly damaging	Het
Itga5	T	C	15: 103,349,757 (GRCm38)	N837S	probably benign	Het
Klhl35	C	A	7: 99,468,440 (GRCm38)	H64N	probably benign	Het
Lrba	T	A	3: 86,532,201 (GRCm38)	V2015E	probably damaging	Het
Mdn1	T	C	4: 32,734,421 (GRCm38)	I3276T	probably benign	Het
Mlh3	G	T	12: 85,268,284 (GRCm38)	T376K	possibly damaging	Het
Nbea	A	T	3: 55,649,705 (GRCm38)	H2550Q	probably damaging	Het
Nid1	G	A	13: 13,489,045 (GRCm38)	G763D	probably damaging	Het
Ntf5	C	A	7: 45,415,819 (GRCm38)	A125E	probably damaging	Het
Obsl1	A	T	1: 75,503,523 (GRCm38)	C460S	probably benign	Het
Olfr1272	T	A	2: 90,296,631 (GRCm38)	K77*	probably null	Het
Olfr130	G	A	17: 38,067,675 (GRCm38)	C168Y	probably damaging	Het
Olfr1380	T	A	11: 49,564,761 (GRCm38)	I280N	possibly damaging	Het
Olfr1496	A	T	19: 13,781,286 (GRCm38)	R223W	probably damaging	Het
Olfr348	A	T	2: 36,787,010 (GRCm38)	I162F	probably benign	Het
Olfr820	A	G	10: 130,017,181 (GRCm38)		probably benign	Het
Olfr933	G	A	9: 38,976,194 (GRCm38)	V173I	probably benign	Het
Orai3	G	A	7: 127,773,571 (GRCm38)	G130S	unknown	Het
Pcdhb12	T	G	18: 37,435,924 (GRCm38)	V41G	probably damaging	Het
Plec	A	T	15: 76,183,623 (GRCm38)	L1194Q	unknown	Het
Pml	C	A	9: 58,220,173 (GRCm38)	C763F	probably damaging	Het
Prdm15	T	A	16: 97,818,273 (GRCm38)	I318F	probably benign	Het
Rcbtb2	C	A	14: 73,178,466 (GRCm38)	T473N	probably benign	Het
Sbno1	T	A	5: 124,374,666 (GRCm38)	I1347F	probably benign	Het
Secisbp2l	C	T	2: 125,768,193 (GRCm38)	D269N	probably damaging	Het
Serpina9	A	T	12: 104,001,316 (GRCm38)	F273L	probably damaging	Het
Sgms2	T	A	3: 131,323,249 (GRCm38)	Y319F	probably benign	Het
Sgo2b	A	T	8: 63,926,497 (GRCm38)	H1100Q	probably benign	Het
Sh3bp5l	A	T	11: 58,345,928 (GRCm38)		probably null	Het
Shh	T	G	5: 28,466,666 (GRCm38)	K33T	probably benign	Het
Slc5a9	A	G	4: 111,890,174 (GRCm38)	Y339H	probably damaging	Het
Spice1	T	A	16: 44,370,501 (GRCm38)		probably null	Het
Tbx2	A	G	11: 85,835,901 (GRCm38)	E257G	probably damaging	Het
Tenm2	G	A	11: 36,023,306 (GRCm38)	T2468I	possibly damaging	Het
Tmem132c	T	C	5: 127,554,696 (GRCm38)	V673A	possibly damaging	Het
Trappc11	G	T	8: 47,522,376 (GRCm38)	T269K	probably damaging	Het
Trpc6	T	C	9: 8,653,149 (GRCm38)	F652S	possibly damaging	Het
Trpv1	G	T	11: 73,254,222 (GRCm38)	K711N	probably benign	Het
Vcan	G	T	13: 89,692,937 (GRCm38)	P1496Q	probably damaging	Het
Vmn1r192	G	T	13: 22,187,675 (GRCm38)	A125E	probably damaging	Het
Vti1b	A	T	12: 79,164,946 (GRCm38)		probably null	Het
Vwa3b	A	C	1: 37,124,045 (GRCm38)	D583A	probably damaging	Het
Zfp638	T	C	6: 83,976,272 (GRCm38)	S1120P	probably damaging	Het
Zfyve26	A	T	12: 79,268,635 (GRCm38)	F1356I	probably benign	Het

Other mutations in Tmeff2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00581:Tmeff2	APN	1	51,185,450 (GRCm38)	missense	probably damaging	1.00
IGL00707:Tmeff2	APN	1	51,133,053 (GRCm38)	splice site	probably null
IGL01096:Tmeff2	APN	1	50,930,546 (GRCm38)	splice site	probably benign
IGL01897:Tmeff2	APN	1	51,132,210 (GRCm38)	missense	probably damaging	1.00
IGL02797:Tmeff2	APN	1	50,928,047 (GRCm38)	missense	probably damaging	1.00
IGL03245:Tmeff2	APN	1	51,181,817 (GRCm38)	missense	probably benign	0.30
G1Funyon:Tmeff2	UTSW	1	51,181,837 (GRCm38)	missense	probably benign	0.00
R0454:Tmeff2	UTSW	1	50,928,075 (GRCm38)	missense	possibly damaging	0.92
R0975:Tmeff2	UTSW	1	50,938,205 (GRCm38)	splice site	probably benign
R1161:Tmeff2	UTSW	1	51,181,787 (GRCm38)	missense	probably damaging	1.00
R1310:Tmeff2	UTSW	1	51,181,787 (GRCm38)	missense	probably damaging	1.00
R1457:Tmeff2	UTSW	1	51,181,867 (GRCm38)	missense	probably damaging	1.00
R3001:Tmeff2	UTSW	1	51,181,835 (GRCm38)	missense	probably damaging	1.00
R3002:Tmeff2	UTSW	1	51,181,835 (GRCm38)	missense	probably damaging	1.00
R3424:Tmeff2	UTSW	1	50,979,617 (GRCm38)	intron	probably benign
R4807:Tmeff2	UTSW	1	50,979,387 (GRCm38)	missense	probably benign	0.01
R4923:Tmeff2	UTSW	1	50,930,645 (GRCm38)	missense	probably benign	0.29
R4977:Tmeff2	UTSW	1	50,979,556 (GRCm38)	nonsense	probably null
R5176:Tmeff2	UTSW	1	51,071,541 (GRCm38)	nonsense	probably null
R5220:Tmeff2	UTSW	1	50,979,317 (GRCm38)	missense	probably benign	0.01
R5919:Tmeff2	UTSW	1	51,132,152 (GRCm38)	nonsense	probably null
R5990:Tmeff2	UTSW	1	50,979,442 (GRCm38)	nonsense	probably null
R6353:Tmeff2	UTSW	1	51,181,826 (GRCm38)	missense	probably damaging	1.00
R6358:Tmeff2	UTSW	1	51,133,114 (GRCm38)	nonsense	probably null
R6925:Tmeff2	UTSW	1	50,928,021 (GRCm38)	missense	probably damaging	0.99
R7114:Tmeff2	UTSW	1	51,185,245 (GRCm38)	splice site	probably null
R7163:Tmeff2	UTSW	1	50,938,344 (GRCm38)	critical splice donor site	probably null
R7332:Tmeff2	UTSW	1	50,979,440 (GRCm38)	missense	unknown
R8223:Tmeff2	UTSW	1	51,133,120 (GRCm38)	critical splice donor site	probably null
R8260:Tmeff2	UTSW	1	50,938,319 (GRCm38)	missense	probably damaging	0.97
R8301:Tmeff2	UTSW	1	51,181,837 (GRCm38)	missense	probably benign	0.00
R8535:Tmeff2	UTSW	1	51,181,826 (GRCm38)	missense	probably damaging	1.00
R8947:Tmeff2	UTSW	1	51,181,793 (GRCm38)	missense	probably damaging	1.00
R9043:Tmeff2	UTSW	1	50,979,620 (GRCm38)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- AGCCTGCCAGAGTTCTTTTAAC -3'
(R):5'- TGGTATTGTTCCCTTCAACACAG -3'

Sequencing Primer
(F):5'- GTTCCTTGACGTGAATCTGGATATAC -3'
(R):5'- GTATTGTTCCCTTCAACACAGTCCAC -3'

Posted On

2019-11-26