Incidental Mutation 'IGL02167:Tmem8'
ID282755
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem8
Ensembl Gene ENSMUSG00000024180
Gene Nametransmembrane protein 8 (five membrane-spanning domains)
SynonymsM83
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.116) question?
Stock #IGL02167
Quality Score
Status
Chromosome17
Chromosomal Location26113316-26123254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26119071 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 450 (S450P)
Ref Sequence ENSEMBL: ENSMUSP00000025010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]
Predicted Effect probably damaging
Transcript: ENSMUST00000025010
AA Change: S450P

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: S450P

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: ENSMUST00000025014
SMART Domains Protein: ENSMUSP00000025014
Gene: ENSMUSG00000024181

DomainStartEndE-ValueType
Pfam:Ribosomal_L28 77 138 3.8e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123132
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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass T A 6: 23,122,722 probably benign Het
Cacna1f T C X: 7,616,019 Y581H probably damaging Het
Camsap1 C T 2: 25,934,300 R1416H probably damaging Het
Ccdc117 T C 11: 5,531,333 E266G possibly damaging Het
Ccdc9 A T 7: 16,284,359 L8* probably null Het
Cited2 T C 10: 17,724,270 S109P probably benign Het
Cnot4 T C 6: 35,056,224 D286G possibly damaging Het
Col5a1 T C 2: 28,018,556 I52T probably benign Het
Cry2 T C 2: 92,433,821 N68S possibly damaging Het
Cul4a T C 8: 13,122,826 F153S probably damaging Het
Ddr1 T C 17: 35,690,071 S261G possibly damaging Het
Depdc5 G A 5: 32,903,801 R324Q probably damaging Het
Dmgdh A G 13: 93,720,627 probably benign Het
Epha8 A T 4: 136,931,094 M990K probably damaging Het
Gpr137c G T 14: 45,279,955 G383C probably damaging Het
Hydin T A 8: 110,418,423 I802N possibly damaging Het
Ifne A G 4: 88,879,828 Y118H possibly damaging Het
Kansl2 T C 15: 98,533,515 probably benign Het
Lig4 T A 8: 9,971,821 N653I probably benign Het
Nagk A G 6: 83,801,106 D246G probably damaging Het
Nav1 A G 1: 135,470,961 S628P probably damaging Het
Ncoa3 A G 2: 166,070,136 Y1401C probably damaging Het
Ndufa9 A G 6: 126,844,785 probably benign Het
Nynrin G T 14: 55,863,335 R194L probably damaging Het
Olfr1115 G A 2: 87,252,198 C87Y probably benign Het
Olfr17 A T 7: 107,097,661 R65S probably benign Het
Olfr45 T A 7: 140,691,751 V282D probably damaging Het
Orc2 A T 1: 58,483,639 probably benign Het
Oxgr1 T A 14: 120,021,930 R288S probably damaging Het
Prkcg T C 7: 3,322,581 probably null Het
Prox1 T C 1: 190,161,280 N323D probably benign Het
Prrt1 A C 17: 34,631,855 E215A possibly damaging Het
Rab2b T C 14: 52,268,696 D103G probably damaging Het
Sardh G T 2: 27,191,975 N846K probably damaging Het
Slc38a8 T A 8: 119,487,360 T248S probably benign Het
Slc6a18 T C 13: 73,666,472 probably null Het
Smcp T C 3: 92,584,199 T114A unknown Het
Trpv1 A G 11: 73,254,797 N754D probably damaging Het
Txnrd1 A T 10: 82,881,911 H243L probably benign Het
Wdfy3 T C 5: 101,961,157 M125V probably damaging Het
Wnk2 T C 13: 49,071,125 probably null Het
Wrn T C 8: 33,317,555 M292V probably damaging Het
Zbtb17 T C 4: 141,461,829 L20P possibly damaging Het
Zfp608 T C 18: 54,988,224 H97R probably damaging Het
Zfp68 T A 5: 138,606,367 M565L probably benign Het
Zfp687 T C 3: 95,010,530 T644A probably benign Het
Zfp777 C T 6: 48,044,526 G54D probably damaging Het
Other mutations in Tmem8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00235:Tmem8 APN 17 26117519 missense probably damaging 0.96
IGL01014:Tmem8 APN 17 26117009 unclassified probably benign
IGL02375:Tmem8 APN 17 26119499 missense probably benign 0.05
IGL02892:Tmem8 APN 17 26119120 missense probably damaging 1.00
IGL02931:Tmem8 APN 17 26117949 missense probably benign
IGL03005:Tmem8 APN 17 26118937 missense probably benign 0.01
IGL03124:Tmem8 APN 17 26116834 missense probably damaging 0.98
IGL03046:Tmem8 UTSW 17 26119440 unclassified probably null
R0551:Tmem8 UTSW 17 26120602 missense probably damaging 1.00
R0555:Tmem8 UTSW 17 26117114 missense probably benign 0.19
R1502:Tmem8 UTSW 17 26120316 missense possibly damaging 0.82
R1593:Tmem8 UTSW 17 26118407 missense possibly damaging 0.63
R1688:Tmem8 UTSW 17 26118908 missense possibly damaging 0.94
R1829:Tmem8 UTSW 17 26122220 missense probably damaging 1.00
R2071:Tmem8 UTSW 17 26122043 missense probably damaging 1.00
R2117:Tmem8 UTSW 17 26117884 missense possibly damaging 0.67
R3609:Tmem8 UTSW 17 26118886 missense probably benign 0.23
R3610:Tmem8 UTSW 17 26118886 missense probably benign 0.23
R4564:Tmem8 UTSW 17 26117863 missense possibly damaging 0.80
R4749:Tmem8 UTSW 17 26116783 missense probably damaging 1.00
R4777:Tmem8 UTSW 17 26121541 missense probably damaging 1.00
R4913:Tmem8 UTSW 17 26120539 missense probably damaging 1.00
R5098:Tmem8 UTSW 17 26118928 missense probably damaging 1.00
R5126:Tmem8 UTSW 17 26121640 missense probably damaging 0.99
R5640:Tmem8 UTSW 17 26118872 missense possibly damaging 0.50
R5722:Tmem8 UTSW 17 26120562 frame shift probably null
R5723:Tmem8 UTSW 17 26120562 frame shift probably null
R5739:Tmem8 UTSW 17 26120451 missense probably damaging 1.00
R5927:Tmem8 UTSW 17 26121998 missense probably benign 0.34
R6587:Tmem8 UTSW 17 26121564 missense probably benign 0.03
R6723:Tmem8 UTSW 17 26120636 missense probably damaging 0.96
R7588:Tmem8 UTSW 17 26122043 missense probably damaging 1.00
R7621:Tmem8 UTSW 17 26117891 missense probably benign 0.00
R7653:Tmem8 UTSW 17 26120449 missense probably damaging 1.00
R7771:Tmem8 UTSW 17 26122073 missense probably damaging 1.00
R8037:Tmem8 UTSW 17 26117535 missense possibly damaging 0.63
Posted On2015-04-16