Incidental Mutation 'IGL00707:Tmeff2'
ID 14487
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmeff2
Ensembl Gene ENSMUSG00000026109
Gene Name transmembrane protein with EGF-like and two follistatin-like domains 2
Synonyms 7630402F16Rik, 4832418D20Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL00707
Quality Score
Status
Chromosome 1
Chromosomal Location 50951946-51226429 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 51172212 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000080533 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081851]
AlphaFold Q9QYM9
Predicted Effect probably null
Transcript: ENSMUST00000081851
SMART Domains Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109

DomainStartEndE-ValueType
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
Coding Region Coverage
Validation Efficiency
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: 13 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik G T 11: 72,069,330 (GRCm39) T528K probably damaging Het
Abca13 A T 11: 9,241,586 (GRCm39) T1150S probably damaging Het
Acrv1 C T 9: 36,607,904 (GRCm39) T188I possibly damaging Het
Atrnl1 A T 19: 57,661,697 (GRCm39) Y559F probably damaging Het
Ccdc171 A T 4: 83,599,392 (GRCm39) M736L probably benign Het
Eif4g1 G A 16: 20,507,764 (GRCm39) R1480Q probably damaging Het
Huwe1 T A X: 150,643,730 (GRCm39) S553T probably damaging Het
Myb T A 10: 21,024,283 (GRCm39) E299V probably damaging Het
Nuf2 T A 1: 169,350,004 (GRCm39) probably benign Het
Ptafr A G 4: 132,307,569 (GRCm39) T320A probably benign Het
Pwp1 T A 10: 85,714,380 (GRCm39) H107Q probably damaging Het
Zp2 C T 7: 119,732,636 (GRCm39) A637T probably benign Het
Zzz3 T A 3: 152,154,680 (GRCm39) L118* probably null Het
Other mutations in Tmeff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Tmeff2 APN 1 51,224,609 (GRCm39) missense probably damaging 1.00
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
R9043:Tmeff2 UTSW 1 51,018,779 (GRCm39) missense unknown
Posted On 2012-12-06