Incidental Mutation 'R0454:Tmeff2'
ID 39829
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 038654-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0454 (G1)
Quality Score 196
Status Not validated
Chromosome 1
Chromosomal Location 50900647-51187270 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to A at 50928075 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 43 (T43N)
Ref Sequence ENSEMBL: ENSMUSP00000110212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000081851] [ENSMUST00000114565]
AlphaFold Q9QYM9
Predicted Effect possibly damaging
Transcript: ENSMUST00000081851
AA Change: T43N

PolyPhen 2 Score 0.855 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: T43N

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 possibly damaging
Transcript: ENSMUST00000114565
AA Change: T43N

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: T43N

transmembrane domain 13 32 N/A INTRINSIC
KAZAL 90 135 1.54e-14 SMART
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.4%
  • 10x: 96.6%
  • 20x: 93.8%
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: 93 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2410131K14Rik A G 5: 118,255,821 (GRCm38) E88G possibly damaging Het
4930447F04Rik T C X: 66,303,668 (GRCm38) E91G unknown Het
Acot1 A G 12: 84,017,339 (GRCm38) Q407R probably benign Het
Adcy10 T A 1: 165,570,728 (GRCm38) Y1465N probably damaging Het
Ahsa2 T A 11: 23,490,702 (GRCm38) I249F probably damaging Het
Arhgap10 T C 8: 77,250,965 (GRCm38) N721S probably damaging Het
Arrdc4 T G 7: 68,741,871 (GRCm38) E216A probably damaging Het
Axin1 T C 17: 26,173,663 (GRCm38) V306A probably benign Het
BC005561 T G 5: 104,518,211 (GRCm38) S200A probably benign Het
Cct3 T C 3: 88,302,866 (GRCm38) probably null Het
Cfap58 G A 19: 47,974,680 (GRCm38) probably null Het
Chd9 T C 8: 90,973,231 (GRCm38) S49P possibly damaging Het
Clcn2 C A 16: 20,710,428 (GRCm38) probably null Het
Col26a1 T C 5: 136,754,193 (GRCm38) N286D probably benign Het
Cpt1b T A 15: 89,424,393 (GRCm38) I111F possibly damaging Het
Cyp4f16 T A 17: 32,537,087 (GRCm38) I30N probably damaging Het
Ddc T G 11: 11,880,587 (GRCm38) D19A possibly damaging Het
Depdc1a T A 3: 159,516,900 (GRCm38) probably null Het
Evc2 T A 5: 37,417,484 (GRCm38) C1028S possibly damaging Het
Fam228a T C 12: 4,731,457 (GRCm38) E134G probably damaging Het
Fasl T C 1: 161,787,954 (GRCm38) E111G probably benign Het
Fbxw10 A G 11: 62,876,738 (GRCm38) N800S possibly damaging Het
Fras1 T C 5: 96,762,665 (GRCm38) S3318P probably damaging Het
G3bp1 T C 11: 55,498,626 (GRCm38) F383L probably damaging Het
Gad1 T A 2: 70,579,201 (GRCm38) M212K probably damaging Het
Gm17455 T G 10: 60,402,973 (GRCm38) S6A probably benign Het
Grm5 T C 7: 88,130,789 (GRCm38) S1146P probably damaging Het
Gsn T C 2: 35,304,639 (GRCm38) L649P probably damaging Het
H2-DMb1 A G 17: 34,155,711 (GRCm38) T112A probably benign Het
Hcn3 T A 3: 89,152,894 (GRCm38) I148F probably damaging Het
Hdac10 T C 15: 89,125,758 (GRCm38) probably null Het
Hk3 C A 13: 55,008,705 (GRCm38) D619Y probably damaging Het
Ifi44 T A 3: 151,745,497 (GRCm38) R272S possibly damaging Het
Il1rap A C 16: 26,698,875 (GRCm38) D275A probably damaging Het
Itgam A T 7: 128,107,980 (GRCm38) N660I probably benign Het
Itpr3 T C 17: 27,113,819 (GRCm38) M1853T probably benign Het
Lrmp A G 6: 145,167,984 (GRCm38) R293G possibly damaging Het
Lrrc8c A C 5: 105,607,099 (GRCm38) K247Q probably damaging Het
Map3k21 T C 8: 125,942,119 (GRCm38) S815P probably benign Het
Mast4 A G 13: 102,751,560 (GRCm38) S1114P probably damaging Het
Myh8 C T 11: 67,303,765 (GRCm38) Q1601* probably null Het
Nhlrc2 A G 19: 56,570,527 (GRCm38) D148G probably damaging Het
Nos1 T A 5: 117,943,320 (GRCm38) S1196T probably benign Het
Nsmaf C T 4: 6,424,874 (GRCm38) probably null Het
Obscn T C 11: 58,999,623 (GRCm38) D7361G unknown Het
Olfr1350 C T 7: 6,570,360 (GRCm38) A123V probably damaging Het
Olfr600 C A 7: 103,346,878 (GRCm38) A17S probably benign Het
Olfr721-ps1 T C 14: 14,407,777 (GRCm38) V183A probably damaging Het
Pank3 T G 11: 35,777,709 (GRCm38) M175R probably benign Het
Papolg A G 11: 23,879,868 (GRCm38) probably null Het
Pcdhb21 G A 18: 37,514,513 (GRCm38) D232N probably damaging Het
Pcdhb22 T C 18: 37,518,872 (GRCm38) F131S probably damaging Het
Pik3r6 G A 11: 68,528,782 (GRCm38) A140T possibly damaging Het
Pinlyp T C 7: 24,542,522 (GRCm38) T87A possibly damaging Het
Pld1 T C 3: 28,124,575 (GRCm38) S873P probably damaging Het
Pld5 T A 1: 176,274,729 (GRCm38) Y49F probably benign Het
Polq T C 16: 37,034,890 (GRCm38) V449A probably damaging Het
Prkca A G 11: 107,978,280 (GRCm38) V69A probably benign Het
Ptk6 A G 2: 181,202,282 (GRCm38) S75P possibly damaging Het
Ptprq G A 10: 107,582,530 (GRCm38) Q1662* probably null Het
Ptprt C A 2: 161,553,822 (GRCm38) A1144S probably damaging Het
Rrm1 T A 7: 102,466,926 (GRCm38) W684R probably damaging Het
Ryr1 T A 7: 29,036,075 (GRCm38) M4093L probably damaging Het
Scnn1a C T 6: 125,322,226 (GRCm38) L90F probably damaging Het
Slc25a19 G T 11: 115,617,597 (GRCm38) Y188* probably null Het
Slc31a1 C T 4: 62,385,629 (GRCm38) probably benign Het
Slc5a11 C G 7: 123,265,235 (GRCm38) S351R possibly damaging Het
Slc6a17 A G 3: 107,476,867 (GRCm38) L387P probably benign Het
Slitrk6 A T 14: 110,749,932 (GRCm38) L781H probably damaging Het
Spam1 T A 6: 24,797,838 (GRCm38) L331Q probably damaging Het
Spata32 A G 11: 103,209,299 (GRCm38) W127R probably damaging Het
Spta1 T G 1: 174,213,942 (GRCm38) I1324S probably damaging Het
St6galnac4 A G 2: 32,594,318 (GRCm38) Y176C probably damaging Het
Stk10 A G 11: 32,596,724 (GRCm38) E327G probably damaging Het
Stxbp5l T A 16: 37,134,284 (GRCm38) Y912F possibly damaging Het
Tchp G A 5: 114,720,182 (GRCm38) E459K probably benign Het
Terf2 C T 8: 107,096,210 (GRCm38) W100* probably null Het
Thrsp T C 7: 97,417,427 (GRCm38) N26S probably damaging Het
Tln1 C A 4: 43,553,504 (GRCm38) R297L probably benign Het
Tmx1 C T 12: 70,453,173 (GRCm38) A2V possibly damaging Het
Tnks1bp1 T A 2: 85,072,137 (GRCm38) L1053Q probably damaging Het
Trmt10b A T 4: 45,304,286 (GRCm38) K107N probably damaging Het
Trpa1 A T 1: 14,885,748 (GRCm38) probably null Het
Trrap A G 5: 144,846,477 (GRCm38) K3371R probably damaging Het
Tuba3b G A 6: 145,618,269 (GRCm38) V14I probably benign Het
Usp19 T C 9: 108,494,240 (GRCm38) probably null Het
Usp28 C A 9: 49,039,101 (GRCm38) D615E possibly damaging Het
Utp20 T C 10: 88,822,069 (GRCm38) D43G probably benign Het
Vmn1r58 T G 7: 5,410,998 (GRCm38) K78Q possibly damaging Het
Vmn2r10 T C 5: 109,003,461 (GRCm38) M96V probably benign Het
Wdr90 T C 17: 25,860,049 (GRCm38) E273G probably damaging Het
Xpc C T 6: 91,491,226 (GRCm38) A860T probably benign Het
Zscan21 T C 5: 138,133,603 (GRCm38) I463T possibly damaging Het
Other mutations in Tmeff2
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R7762:Tmeff2 UTSW 1 50,979,416 (GRCm38) missense probably benign 0.04
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

Sequencing Primer
Posted On 2013-05-23