Incidental Mutation 'IGL00235:Tmem8'
ID2082
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: 0.081) question?
Stock #IGL00235
Quality Score
Status
Chromosome17
Chromosomal Location26113316-26123254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 26117519 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 204 (S204P)
Ref Sequence ENSEMBL: ENSMUSP00000025010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000128597]
Predicted Effect probably damaging
Transcript: ENSMUST00000025010
AA Change: S204P

PolyPhen 2 Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: S204P

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adcy5 G A 16: 35,253,213 E454K possibly damaging Het
Agl T C 3: 116,771,483 H1039R probably benign Het
Akap3 T C 6: 126,865,731 F438L probably benign Het
Casp1 A T 9: 5,299,872 probably benign Het
Cnih2 G T 19: 5,098,273 probably benign Het
Dchs1 G A 7: 105,758,743 R1961C probably damaging Het
Defb21 G A 2: 152,574,792 V63I probably benign Het
Elovl6 T A 3: 129,628,376 N105K probably benign Het
Fam83e A T 7: 45,727,069 E402V probably benign Het
Fat4 T A 3: 38,982,249 I3350N probably damaging Het
Gmpr2 C A 14: 55,675,714 F149L probably damaging Het
Gucy1b2 C A 14: 62,406,245 V636F probably damaging Het
Hapln1 A C 13: 89,608,142 Y355S probably benign Het
Hoxb13 G T 11: 96,194,642 C67F possibly damaging Het
Hspa12b T A 2: 131,134,120 I14N probably damaging Het
Ighe C A 12: 113,271,515 V342L unknown Het
Ighv1-49 A T 12: 115,055,456 S21T possibly damaging Het
Klhl17 A G 4: 156,233,862 I101T possibly damaging Het
Lrrd1 T G 5: 3,850,573 L293V possibly damaging Het
Lyrm4 T A 13: 36,092,882 K44M probably damaging Het
Med15 G T 16: 17,680,726 P101T probably damaging Het
Mgat4c A T 10: 102,388,720 H265L probably damaging Het
Mme T A 3: 63,340,044 I250N possibly damaging Het
Mxra8 C A 4: 155,842,563 T318N probably benign Het
Nlrp9b G A 7: 20,023,278 V147I probably benign Het
Npepl1 G T 2: 174,120,548 V336L probably damaging Het
Olfr382 G A 11: 73,516,410 S263L possibly damaging Het
Pank2 T C 2: 131,274,169 I169T possibly damaging Het
Pkhd1l1 A T 15: 44,556,019 H2960L probably damaging Het
Pnpla8 A G 12: 44,283,069 R135G probably benign Het
Prdm8 T G 5: 98,183,343 V18G probably damaging Het
Rhox7b G T X: 37,889,662 P231T probably damaging Het
Rnf121 A T 7: 102,065,115 probably benign Het
Skap1 T C 11: 96,489,910 F45S probably damaging Het
Slc4a5 T A 6: 83,285,899 L791Q probably damaging Het
Ssh1 T C 5: 113,942,576 D931G probably damaging Het
Txndc16 T C 14: 45,162,350 Y382C probably damaging Het
Uhrf2 T C 19: 30,073,946 F307L probably benign Het
Zfhx2 C A 14: 55,063,257 A2346S probably benign Het
Other mutations in Tmem8
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01014:Tmem8 APN 17 26117009 unclassified probably benign
IGL02167:Tmem8 APN 17 26119071 missense probably damaging 1.00
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 On2011-12-09