Incidental Mutation 'R6925:Tmeff2'
ID 541047
Institutional Source Beutler Lab
Gene Symbol Tmeff2
Ensembl Gene ENSMUSG00000026109
Gene Name transmembrane protein with EGF-like and two follistatin-like domains 2
Synonyms 7630402F16Rik, 4832418D20Rik
MMRRC Submission 045043-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6925 (G1)
Quality Score 225.009
Status Validated
Chromosome 1
Chromosomal Location 50951946-51226429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 50967180 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Glutamine at position 25 (L25Q)
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: L25Q

PolyPhen 2 Score 0.869 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000080533
Gene: ENSMUSG00000026109
AA Change: L25Q

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: L25Q

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110212
Gene: ENSMUSG00000026109
AA Change: L25Q

DomainStartEndE-ValueType
transmembrane domain 13 32 N/A INTRINSIC
KAZAL 90 135 1.54e-14 SMART
Meta Mutation Damage Score 0.1658 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A T 9: 53,503,329 (GRCm39) V170E probably benign Het
Atp2b2 T A 6: 113,737,681 (GRCm39) I902F probably damaging Het
Cacna1d A G 14: 29,773,594 (GRCm39) V1697A probably benign Het
Ccdc14 T A 16: 34,511,119 (GRCm39) F31Y probably benign Het
Ccdc17 T A 4: 116,455,407 (GRCm39) V250E probably damaging Het
Cct7 A G 6: 85,436,164 (GRCm39) N25S probably damaging Het
Cdcp3 A G 7: 130,824,436 (GRCm39) Q177R possibly damaging Het
Cep19 G C 16: 31,922,760 (GRCm39) G9R probably damaging Het
Ces5a A T 8: 94,249,685 (GRCm39) probably null Het
Chd1l T G 3: 97,490,142 (GRCm39) E471A probably damaging Het
Chd6 A G 2: 160,855,047 (GRCm39) I787T probably damaging Het
Cntnap5c A C 17: 58,702,261 (GRCm39) T1194P probably benign Het
Col6a3 T A 1: 90,743,724 (GRCm39) M208L probably benign Het
Coro7 A T 16: 4,446,538 (GRCm39) probably null Het
Csrnp2 T C 15: 100,379,839 (GRCm39) K484R probably benign Het
Cyp2c39 T A 19: 39,501,639 (GRCm39) V64E probably damaging Het
Ddr2 T C 1: 169,825,701 (GRCm39) K300E probably benign Het
Ddx56 T C 11: 6,213,980 (GRCm39) E393G probably damaging Het
Diaph1 A C 18: 37,986,732 (GRCm39) Y1084* probably null Het
Disp1 A T 1: 182,868,042 (GRCm39) F1459L probably benign Het
Dnajc8 G A 4: 132,271,424 (GRCm39) A80T probably damaging Het
Elfn1 T A 5: 139,957,440 (GRCm39) M148K probably benign Het
Emcn T A 3: 137,124,763 (GRCm39) I154N probably damaging Het
Enah T A 1: 181,733,464 (GRCm39) probably null Het
Enah C G 1: 181,733,463 (GRCm39) probably null Het
Ep300 C A 15: 81,534,182 (GRCm39) Q2080K probably benign Het
Epha2 T A 4: 141,036,068 (GRCm39) M168K probably benign Het
Ercc6 T A 14: 32,284,565 (GRCm39) I776N probably damaging Het
Fan1 T A 7: 64,022,234 (GRCm39) N340Y probably damaging Het
Fat4 G T 3: 39,050,353 (GRCm39) probably null Het
G3bp1 A G 11: 55,388,786 (GRCm39) R333G possibly damaging Het
Gm3604 A G 13: 62,517,204 (GRCm39) F385L probably benign Het
Gm5800 T C 14: 51,951,157 (GRCm39) I147M possibly damaging Het
Hipk1 A G 3: 103,685,561 (GRCm39) F18S unknown Het
Ighv3-8 A T 12: 114,285,950 (GRCm39) C131S probably benign Het
Il23r T G 6: 67,400,477 (GRCm39) T618P probably damaging Het
Il31ra G A 13: 112,664,063 (GRCm39) T538I possibly damaging Het
Kcns2 A G 15: 34,840,059 (GRCm39) D474G unknown Het
Klc4 T C 17: 46,947,155 (GRCm39) T407A possibly damaging Het
Klra5 C T 6: 129,888,420 (GRCm39) S2N probably benign Het
Krt10 T C 11: 99,279,677 (GRCm39) Y161C probably damaging Het
Kxd1 A T 8: 70,975,928 (GRCm39) M1K probably null Het
Lgals1 A C 15: 78,812,240 (GRCm39) D27A possibly damaging Het
Lgr5 T C 10: 115,302,251 (GRCm39) S308G probably benign Het
Lrp1 G A 10: 127,392,857 (GRCm39) S2736L probably benign Het
Lrpap1 G T 5: 35,259,880 (GRCm39) H73N probably benign Het
Mcpt1 C A 14: 56,256,522 (GRCm39) T86K probably damaging Het
Megf6 A T 4: 154,339,044 (GRCm39) D527V probably damaging Het
Mical3 A T 6: 120,936,351 (GRCm39) S1392T probably benign Het
Mmp2 A T 8: 93,566,010 (GRCm39) D437V probably damaging Het
Mob4 T A 1: 55,191,881 (GRCm39) Y166* probably null Het
Mrap2 G A 9: 87,064,527 (GRCm39) M89I possibly damaging Het
Mug1 G A 6: 121,858,746 (GRCm39) A1155T probably damaging Het
Myh2 G T 11: 67,084,044 (GRCm39) A1556S probably benign Het
Nfatc3 A G 8: 106,845,954 (GRCm39) D1028G probably benign Het
Ngef T G 1: 87,430,985 (GRCm39) probably null Het
Nlrp1a A T 11: 70,983,339 (GRCm39) L1209Q probably null Het
Npr2 C T 4: 43,647,553 (GRCm39) R819C probably damaging Het
Nsd2 A T 5: 34,036,454 (GRCm39) D646V probably damaging Het
Nsun7 A G 5: 66,434,415 (GRCm39) H252R probably damaging Het
Or2a25 T A 6: 42,888,791 (GRCm39) C111* probably null Het
Or2k2 A T 4: 58,785,647 (GRCm39) I25N possibly damaging Het
Or51a10 C T 7: 103,698,947 (GRCm39) V205I probably benign Het
Or8g32 A T 9: 39,305,156 (GRCm39) Q20L probably benign Het
Or8g32 G T 9: 39,305,157 (GRCm39) Q20H probably benign Het
Pcdhga2 A T 18: 37,803,638 (GRCm39) D494V probably damaging Het
Pcsk2 A G 2: 143,655,667 (GRCm39) E617G probably damaging Het
Pdc T C 1: 150,208,931 (GRCm39) I138T probably damaging Het
Phc2 T A 4: 128,641,927 (GRCm39) S750T probably damaging Het
Pkd2l1 T A 19: 44,179,947 (GRCm39) N88Y possibly damaging Het
Plcl1 C T 1: 55,445,757 (GRCm39) R71* probably null Het
Prag1 C A 8: 36,571,048 (GRCm39) L544M probably damaging Het
Prkg2 A G 5: 99,114,369 (GRCm39) probably null Het
Psd2 G A 18: 36,112,764 (GRCm39) S153N probably damaging Het
Rab11fip1 A T 8: 27,643,000 (GRCm39) S600T probably damaging Het
Rbms1 T G 2: 60,592,648 (GRCm39) T222P probably benign Het
Slfn8 A T 11: 82,904,243 (GRCm39) Y382* probably null Het
Socs4 T A 14: 47,527,195 (GRCm39) C43* probably null Het
Sorl1 T A 9: 41,944,922 (GRCm39) T868S probably damaging Het
St6gal1 A G 16: 23,174,963 (GRCm39) Y267C probably damaging Het
Syne1 A G 10: 5,076,682 (GRCm39) V6879A probably benign Het
Syne2 C A 12: 75,900,906 (GRCm39) H22N possibly damaging Het
Tmprss11g G T 5: 86,635,285 (GRCm39) D396E probably benign Het
Tmprss11g T A 5: 86,635,295 (GRCm39) H393L probably benign Het
Vmn2r23 A G 6: 123,681,512 (GRCm39) E140G probably damaging Het
Wapl T C 14: 34,399,320 (GRCm39) S130P probably benign Het
Zeb2 T A 2: 44,884,541 (GRCm39) K982M probably damaging Het
Zfhx3 C G 8: 109,683,453 (GRCm39) H3631D unknown Het
Zfp719 T C 7: 43,240,130 (GRCm39) S573P probably damaging Het
Zfp979 A T 4: 147,697,999 (GRCm39) C237S possibly damaging Het
Other mutations in Tmeff2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00581:Tmeff2 APN 1 51,224,609 (GRCm39) missense probably damaging 1.00
IGL00707:Tmeff2 APN 1 51,172,212 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGATCATGCTCTCCTTTGGTCG -3'
(R):5'- AGAGTAGACAGGTCTGTGCG -3'

Sequencing Primer
(F):5'- TTGGTCGCAGTATCACCG -3'
(R):5'- ACAGGTCTGTGCGGGTTCC -3'
Posted On 2018-11-28