Incidental Mutation 'IGL03005:Tmem8'
ID407508
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: 0.089) question?
Stock #IGL03005
Quality Score
Status
Chromosome17
Chromosomal Location26113316-26123254 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 26118937 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Phenylalanine at position 432 (L432F)
Ref Sequence ENSEMBL: ENSMUSP00000025010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025010] [ENSMUST00000025014] [ENSMUST00000128597]
Predicted Effect probably benign
Transcript: ENSMUST00000025010
AA Change: L432F

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000025010
Gene: ENSMUSG00000024180
AA Change: L432F

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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akt3 A T 1: 177,067,227 V268E probably damaging Het
Apob A G 12: 7,993,059 probably benign Het
Arhgap19 T C 19: 41,784,417 probably benign Het
C2cd2 A G 16: 97,859,432 L672P probably damaging Het
Cars A G 7: 143,559,169 F774L probably damaging Het
Cd200r3 T A 16: 44,953,610 S128R probably damaging Het
Chd9 A G 8: 91,011,447 N1569S probably damaging Het
Chmp7 G A 14: 69,719,828 R294C probably damaging Het
Col10a1 A T 10: 34,395,738 I569F probably damaging Het
Cspg4 T A 9: 56,888,488 V1169D probably damaging Het
Doxl2 T A 6: 48,976,546 Y468* probably null Het
Emg1 G A 6: 124,704,594 T229I probably damaging Het
Fmo9 C T 1: 166,674,519 S179N probably benign Het
Frem1 T C 4: 82,994,134 Y667C probably damaging Het
Gm21949 C A 3: 68,618,677 Q395K possibly damaging Het
Gpsm2 A G 3: 108,687,006 probably benign Het
Gsdma A T 11: 98,676,259 E395V probably damaging Het
Gsdmd C T 15: 75,867,166 T464M possibly damaging Het
Lipo1 T C 19: 33,785,736 I36V possibly damaging Het
Lrrtm1 A G 6: 77,244,156 S199G probably damaging Het
Lypla1 C T 1: 4,832,390 probably benign Het
Mst1r C T 9: 107,914,549 Q809* probably null Het
Mtr T A 13: 12,235,449 probably benign Het
Olfr1238 G A 2: 89,406,971 T36I possibly damaging Het
Pax7 T A 4: 139,828,696 I156F probably damaging Het
Pcdhb8 T A 18: 37,357,534 L755Q probably damaging Het
Pdzd2 G A 15: 12,385,265 P1140S probably damaging Het
Pdzrn4 T C 15: 92,770,391 L808P probably damaging Het
Pex1 G T 5: 3,630,292 Q971H probably null Het
Pld1 T A 3: 28,087,253 V655E possibly damaging Het
Pnpla3 C T 15: 84,174,268 R163W probably damaging Het
Rabgef1 T C 5: 130,208,797 L237P probably damaging Het
Setbp1 A T 18: 78,859,125 N442K possibly damaging Het
Sorl1 T G 9: 42,057,325 D544A probably damaging Het
Spire2 C A 8: 123,363,368 P490T probably benign Het
Zeb1 T A 18: 5,767,150 S554T probably benign 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
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
IGL03124:Tmem8 APN 17 26116834 missense probably damaging 0.98
IGL03046:Tmem8 UTSW 17 26119440 splice site 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
R8493:Tmem8 UTSW 17 26121957 missense probably damaging 1.00
Posted On2016-08-02