Incidental Mutation 'IGL02797:Tmeff2'
ID359989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmeff2
Ensembl Gene ENSMUSG00000026109
Gene Nametransmembrane protein with EGF-like and two follistatin-like domains 2
Synonyms4832418D20Rik, 7630402F16Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02797
Quality Score
Status
Chromosome1
Chromosomal Location50900647-51187270 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 50928047 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 34 (R34C)
Ref Sequence ENSEMBL: ENSMUSP00000110212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081851] [ENSMUST00000114565]
Predicted Effect probably damaging
Transcript: ENSMUST00000081851
AA Change: R34C

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: R34C

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
Predicted Effect probably damaging
Transcript: ENSMUST00000114565
AA Change: R34C

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: R34C

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
KAZAL 90 135 1.54e-14 SMART
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc5 A G 16: 20,368,464 M924T probably benign Het
B3gat2 A G 1: 23,815,279 Y218C probably damaging Het
Bcs1l T C 1: 74,590,461 probably null Het
C77080 C T 4: 129,223,311 R565H probably damaging Het
Cd109 T A 9: 78,661,713 I358N probably damaging Het
Cd276 T C 9: 58,537,436 D84G possibly damaging Het
Chsy1 T C 7: 66,171,664 F549S probably damaging Het
Clca2 T C 3: 145,081,263 N549S probably benign Het
Cma1 A G 14: 55,943,814 S32P possibly damaging Het
Col23a1 G A 11: 51,561,916 probably null Het
Ctps A T 4: 120,562,824 I131K probably benign Het
Cyp2w1 T C 5: 139,356,873 L441P probably damaging Het
Dnajc21 A G 15: 10,461,355 Y170H probably damaging Het
Eif3a A T 19: 60,772,726 L648Q probably damaging Het
Eif3l T A 15: 79,075,277 D6E probably benign Het
Fam228a A T 12: 4,731,484 L125Q probably damaging Het
Foxa2 A G 2: 148,044,125 C263R possibly damaging Het
Gm17455 A G 10: 60,403,328 E124G possibly damaging Het
Gm8882 T A 6: 132,363,045 probably null Het
Gpc6 T G 14: 116,925,982 L16R probably damaging Het
Hdac9 A G 12: 34,393,274 probably benign Het
Herc3 A G 6: 58,868,694 N400S probably benign Het
Herc4 G A 10: 63,316,807 probably null Het
Il12b A G 11: 44,410,353 probably null Het
Lama4 A G 10: 39,056,924 R599G probably null Het
Lrp1b T A 2: 41,671,057 E286V Het
Mink1 C T 11: 70,610,350 P784S probably damaging Het
Musk T C 4: 58,366,921 F513S probably benign Het
Nfasc T A 1: 132,610,448 D474V probably damaging Het
Nos2 T G 11: 78,940,344 F420V probably damaging Het
Olfr597 A T 7: 103,320,851 I147L probably benign Het
Pcdhb14 A G 18: 37,449,851 Y670C probably damaging Het
Polr1b A G 2: 129,102,979 E65G probably damaging Het
Ppp1r10 T G 17: 35,928,012 probably null Het
Prag1 C T 8: 36,139,501 R799C probably damaging Het
Ptch1 T C 13: 63,533,607 N485S probably benign Het
Rgsl1 T C 1: 153,807,708 T19A probably damaging Het
Sgpl1 A C 10: 61,101,728 S507A probably benign Het
Sgpp2 A G 1: 78,417,182 D274G probably benign Het
Skap1 A G 11: 96,713,017 D211G possibly damaging Het
Smc3 A G 19: 53,638,758 T830A probably benign Het
Smpd2 G A 10: 41,488,078 T215I possibly damaging Het
Sntg2 T G 12: 30,226,892 Y387S possibly damaging Het
Sorl1 T G 9: 42,037,059 D810A probably damaging Het
Spata5 A G 3: 37,458,316 probably benign Het
Spop T A 11: 95,482,083 I217N probably damaging Het
Stac2 T C 11: 98,043,519 R120G possibly damaging Het
Stau1 A T 2: 166,949,346 *496R probably null Het
Treml2 C T 17: 48,302,711 A57V possibly damaging Het
Vmn2r15 T C 5: 109,297,384 D58G probably benign Het
Vmn2r7 T C 3: 64,691,245 I721M possibly damaging Het
Vmn2r70 C A 7: 85,559,087 M727I probably benign Het
Vwa8 T A 14: 78,925,262 C161S probably benign Het
Other mutations in Tmeff2
AlleleSourceChrCoordTypePredicted EffectPPH 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
IGL03245:Tmeff2 APN 1 51181817 missense probably benign 0.30
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 intron probably null
R7163:Tmeff2 UTSW 1 50938344 critical splice donor site probably null
R7332:Tmeff2 UTSW 1 50979440 missense unknown
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
Posted On2015-12-18