Incidental Mutation 'R1593:Tmem8'
ID 175644
Institutional Source Beutler Lab
Gene Symbol Tmem8
Ensembl Gene ENSMUSG00000024180
Gene Name transmembrane protein 8 (five membrane-spanning domains)
Synonyms M83
MMRRC Submission 039630-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.088) question?
Stock # R1593 (G1)
Quality Score 121
Status Not validated
Chromosome 17
Chromosomal Location 26113316-26123254 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 26118407 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 399 (I399N)
Ref Sequence ENSEMBL: ENSMUSP00000025010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000128597]
AlphaFold Q9ESN3
Predicted Effect possibly damaging
Transcript: ENSMUST00000025010
AA Change: I399N

PolyPhen 2 Score 0.633 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: I399N

DomainStartEndE-ValueType
signal peptide 1 33 N/A INTRINSIC
EGF 495 531 1.99e1 SMART
Pfam:DUF3522 541 725 1e-50 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128597
SMART Domains Protein: ENSMUSP00000121651
Gene: ENSMUSG00000024180

DomainStartEndE-ValueType
EGF 3 39 1.99e1 SMART
Pfam:DUF3522 47 143 2e-36 PFAM
Pfam:DUF3522 134 194 2.6e-17 PFAM
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acly A T 11: 100,481,755 (GRCm38) I902N possibly damaging Het
Acsl6 A G 11: 54,323,308 (GRCm38) D88G probably damaging Het
Adam1a A C 5: 121,519,643 (GRCm38) I529S probably benign Het
Ap3b1 T C 13: 94,501,927 (GRCm38) V838A unknown Het
Arrdc2 T C 8: 70,837,120 (GRCm38) Y280C probably damaging Het
Atg10 T C 13: 91,154,261 (GRCm38) T53A probably benign Het
Ccdc136 T C 6: 29,415,584 (GRCm38) S699P probably damaging Het
Cdc23 C A 18: 34,636,326 (GRCm38) V462L possibly damaging Het
Clcn6 C T 4: 148,014,594 (GRCm38) A431T probably benign Het
Cntn6 T G 6: 104,832,580 (GRCm38) H525Q possibly damaging Het
Ctr9 T C 7: 111,042,853 (GRCm38) F296S possibly damaging Het
Ctsq T A 13: 61,036,172 (GRCm38) probably null Het
Ehd1 A G 19: 6,298,300 (GRCm38) D436G Het
Epha6 A T 16: 60,424,904 (GRCm38) F311I probably damaging Het
Esrrg A T 1: 188,066,385 (GRCm38) T150S possibly damaging Het
Exoc2 C A 13: 30,856,761 (GRCm38) R758L possibly damaging Het
Exosc7 G C 9: 123,131,993 (GRCm38) V242L probably benign Het
Fcho2 T C 13: 98,784,807 (GRCm38) D190G possibly damaging Het
Fgd6 T C 10: 94,045,032 (GRCm38) S583P probably damaging Het
Frmd4a A G 2: 4,473,188 (GRCm38) Y60C probably damaging Het
Gldc A T 19: 30,113,750 (GRCm38) I815N probably damaging Het
Grm2 A T 9: 106,650,914 (GRCm38) L257Q probably damaging Het
Hectd3 C A 4: 116,997,020 (GRCm38) T289K possibly damaging Het
Itgb4 T C 11: 115,980,991 (GRCm38) V207A probably damaging Het
Lamb3 A G 1: 193,330,796 (GRCm38) E443G probably damaging Het
Meis2 T A 2: 116,000,264 (GRCm38) D256V probably damaging Het
Muc4 A G 16: 32,754,686 (GRCm38) N1520S probably benign Het
Nckap1l A G 15: 103,478,854 (GRCm38) R719G probably null Het
Olfr800 A T 10: 129,660,225 (GRCm38) R140* probably null Het
Pabpc6 A T 17: 9,667,813 (GRCm38) M603K probably damaging Het
Pcnx2 C A 8: 125,759,273 (GRCm38) R1862L probably benign Het
Pon2 T C 6: 5,273,003 (GRCm38) D122G probably benign Het
Ppig T A 2: 69,749,081 (GRCm38) W378R unknown Het
Ralgapa1 T A 12: 55,770,703 (GRCm38) E389D probably damaging Het
Rapgef6 TG TGG 11: 54,546,397 (GRCm38) probably null Het
Rarg A G 15: 102,239,941 (GRCm38) F233L probably damaging Het
Rasgrp2 T C 19: 6,403,460 (GRCm38) F90L possibly damaging Het
Rrp12 T A 19: 41,863,241 (GRCm38) H1285L probably benign Het
Slc16a13 C A 11: 70,219,082 (GRCm38) A198S probably benign Het
Spag9 A G 11: 94,097,233 (GRCm38) D441G probably damaging Het
Stxbp5l A G 16: 37,116,052 (GRCm38) F1099S probably damaging Het
Tex19.1 T A 11: 121,147,253 (GRCm38) W146R probably damaging Het
Tmod3 T C 9: 75,511,163 (GRCm38) D197G probably benign Het
Tpp2 A G 1: 43,975,433 (GRCm38) H644R probably benign Het
Trpm2 A G 10: 77,943,076 (GRCm38) V352A possibly damaging Het
Tulp1 T C 17: 28,362,701 (GRCm38) K233E probably damaging Het
Vsir A G 10: 60,357,958 (GRCm38) T67A possibly damaging Het
Wdr49 T C 3: 75,396,941 (GRCm38) N487S probably benign Het
Zbtb20 A G 16: 43,609,423 (GRCm38) N99S probably damaging Het
Zfp583 C T 7: 6,317,009 (GRCm38) G335S probably benign Het
Zgrf1 T A 3: 127,561,026 (GRCm38) V98E possibly damaging Het
Other mutations in Tmem8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Tmem8 APN 17 26,117,519 (GRCm38) missense probably damaging 0.96
IGL01014:Tmem8 APN 17 26,117,009 (GRCm38) unclassified probably benign
IGL02167:Tmem8 APN 17 26,119,071 (GRCm38) missense probably damaging 1.00
IGL02375:Tmem8 APN 17 26,119,499 (GRCm38) missense probably benign 0.05
IGL02892:Tmem8 APN 17 26,119,120 (GRCm38) missense probably damaging 1.00
IGL02931:Tmem8 APN 17 26,117,949 (GRCm38) missense probably benign
IGL03005:Tmem8 APN 17 26,118,937 (GRCm38) missense probably benign 0.01
IGL03124:Tmem8 APN 17 26,116,834 (GRCm38) missense probably damaging 0.98
IGL03046:Tmem8 UTSW 17 26,119,440 (GRCm38) splice site probably null
R0551:Tmem8 UTSW 17 26,120,602 (GRCm38) missense probably damaging 1.00
R0555:Tmem8 UTSW 17 26,117,114 (GRCm38) missense probably benign 0.19
R1502:Tmem8 UTSW 17 26,120,316 (GRCm38) missense possibly damaging 0.82
R1688:Tmem8 UTSW 17 26,118,908 (GRCm38) missense possibly damaging 0.94
R1829:Tmem8 UTSW 17 26,122,220 (GRCm38) missense probably damaging 1.00
R2071:Tmem8 UTSW 17 26,122,043 (GRCm38) missense probably damaging 1.00
R2117:Tmem8 UTSW 17 26,117,884 (GRCm38) missense possibly damaging 0.67
R3609:Tmem8 UTSW 17 26,118,886 (GRCm38) missense probably benign 0.23
R3610:Tmem8 UTSW 17 26,118,886 (GRCm38) missense probably benign 0.23
R4564:Tmem8 UTSW 17 26,117,863 (GRCm38) missense possibly damaging 0.80
R4749:Tmem8 UTSW 17 26,116,783 (GRCm38) missense probably damaging 1.00
R4777:Tmem8 UTSW 17 26,121,541 (GRCm38) missense probably damaging 1.00
R4913:Tmem8 UTSW 17 26,120,539 (GRCm38) missense probably damaging 1.00
R5098:Tmem8 UTSW 17 26,118,928 (GRCm38) missense probably damaging 1.00
R5126:Tmem8 UTSW 17 26,121,640 (GRCm38) missense probably damaging 0.99
R5640:Tmem8 UTSW 17 26,118,872 (GRCm38) missense possibly damaging 0.50
R5722:Tmem8 UTSW 17 26,120,562 (GRCm38) frame shift probably null
R5723:Tmem8 UTSW 17 26,120,562 (GRCm38) frame shift probably null
R5739:Tmem8 UTSW 17 26,120,451 (GRCm38) missense probably damaging 1.00
R5927:Tmem8 UTSW 17 26,121,998 (GRCm38) missense probably benign 0.34
R6587:Tmem8 UTSW 17 26,121,564 (GRCm38) missense probably benign 0.03
R6723:Tmem8 UTSW 17 26,120,636 (GRCm38) missense probably damaging 0.96
R7588:Tmem8 UTSW 17 26,122,043 (GRCm38) missense probably damaging 1.00
R7621:Tmem8 UTSW 17 26,117,891 (GRCm38) missense probably benign 0.00
R7653:Tmem8 UTSW 17 26,120,449 (GRCm38) missense probably damaging 1.00
R7771:Tmem8 UTSW 17 26,122,073 (GRCm38) missense probably damaging 1.00
R8037:Tmem8 UTSW 17 26,117,535 (GRCm38) missense possibly damaging 0.63
R8493:Tmem8 UTSW 17 26,121,957 (GRCm38) missense probably damaging 1.00
R8956:Tmem8 UTSW 17 26,120,400 (GRCm38) missense possibly damaging 0.89
R9048:Tmem8 UTSW 17 26,121,541 (GRCm38) missense probably damaging 1.00
R9574:Tmem8 UTSW 17 26,118,887 (GRCm38) missense probably damaging 0.98
Predicted Primers PCR Primer
(F):5'- TGACATTTGAGAGCCTGGCTGAAC -3'
(R):5'- AACTTCTACCAGGGACAGGGCTTC -3'

Sequencing Primer
(F):5'- ATGGAGTGTGACCATCCATC -3'
(R):5'- GAAGTCTTTTATCTTGGAGGAATCCC -3'
Posted On 2014-04-24