Incidental Mutation 'IGL02083:Tmem87a'
ID 283431
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # IGL02083
Quality Score
Status
Chromosome 2
Chromosomal Location 120185793-120234594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120227861 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 95 (N95K)
Ref Sequence ENSEMBL: ENSMUSP00000087496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090042] [ENSMUST00000090046] [ENSMUST00000110729]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000090042
AA Change: N95K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: N95K

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 471 1.1e-87 PFAM
low complexity region 480 486 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000090046
AA Change: N95K

PolyPhen 2 Score 0.076 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: N95K

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 185 472 1.5e-85 PFAM
low complexity region 481 487 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110729
AA Change: N95K

PolyPhen 2 Score 0.247 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: N95K

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 472 2.4e-86 PFAM
low complexity region 481 487 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124806
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136410
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143182
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151740
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acap1 A C 11: 69,780,336 (GRCm39) L36V possibly damaging Het
Aoc1l1 G A 6: 48,953,194 (GRCm39) G373D probably damaging Het
Atp13a3 T C 16: 30,166,524 (GRCm39) T540A possibly damaging Het
Bend5 A C 4: 111,316,964 (GRCm39) I376L probably benign Het
Ccdc138 T C 10: 58,380,736 (GRCm39) probably benign Het
Cdh10 T A 15: 18,986,975 (GRCm39) I402N possibly damaging Het
Cfap44 T C 16: 44,257,525 (GRCm39) V1020A probably damaging Het
Chd2 A T 7: 73,130,816 (GRCm39) S749T possibly damaging Het
Enpp3 T A 10: 24,652,692 (GRCm39) D755V probably damaging Het
Fmo6 T A 1: 162,748,033 (GRCm39) K344* probably null Het
Gabbr1 A G 17: 37,380,957 (GRCm39) T767A possibly damaging Het
Gjd3 A G 11: 98,873,587 (GRCm39) S86P probably damaging Het
Grin1 A G 2: 25,188,513 (GRCm39) V432A possibly damaging Het
Igf2r A T 17: 12,912,079 (GRCm39) C1849* probably null Het
Jcad G T 18: 4,680,266 (GRCm39) probably benign Het
Mrgpra4 A T 7: 47,630,808 (GRCm39) C264* probably null Het
Naa80 G T 9: 107,460,798 (GRCm39) R231L probably benign Het
Napepld T C 5: 21,881,065 (GRCm39) Y110C probably damaging Het
Ncapd3 A G 9: 26,963,117 (GRCm39) E474G probably damaging Het
Pkhd1 T A 1: 20,271,451 (GRCm39) D3034V probably damaging Het
Plxnc1 T C 10: 94,758,587 (GRCm39) T370A possibly damaging Het
Ptger4 C T 15: 5,272,655 (GRCm39) R13H probably benign Het
Scg2 T A 1: 79,413,941 (GRCm39) T261S probably benign Het
Sfswap T C 5: 129,616,855 (GRCm39) V433A probably benign Het
Sipa1l3 A G 7: 29,086,686 (GRCm39) Y635H probably damaging Het
Sp5 C A 2: 70,306,758 (GRCm39) P148T possibly damaging Het
Tlr5 A G 1: 182,801,449 (GRCm39) N251S possibly damaging Het
Unc45b C T 11: 82,813,745 (GRCm39) T384M probably damaging Het
Unc5c T C 3: 141,420,408 (GRCm39) L117P probably damaging Het
Vcan T C 13: 89,873,684 (GRCm39) N57D probably damaging Het
Zcchc8 G T 5: 123,838,981 (GRCm39) T519K probably damaging Het
Zfp729b G A 13: 67,743,349 (GRCm39) T72I probably benign Het
Other mutations in Tmem87a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00491:Tmem87a APN 2 120,210,261 (GRCm39) splice site probably benign
IGL00912:Tmem87a APN 2 120,234,417 (GRCm39) missense possibly damaging 0.54
IGL01301:Tmem87a APN 2 120,211,250 (GRCm39) missense probably benign 0.01
IGL01413:Tmem87a APN 2 120,216,351 (GRCm39) missense probably benign 0.06
IGL01418:Tmem87a APN 2 120,216,351 (GRCm39) missense probably benign 0.06
IGL02150:Tmem87a APN 2 120,190,557 (GRCm39) missense probably damaging 0.99
IGL02256:Tmem87a APN 2 120,208,377 (GRCm39) missense probably damaging 1.00
IGL02314:Tmem87a APN 2 120,234,502 (GRCm39) missense possibly damaging 0.57
IGL02501:Tmem87a APN 2 120,234,534 (GRCm39) missense probably damaging 0.98
IGL02550:Tmem87a APN 2 120,204,966 (GRCm39) splice site probably null
IGL03082:Tmem87a APN 2 120,227,847 (GRCm39) missense possibly damaging 0.81
Fugal UTSW 2 120,190,518 (GRCm39) critical splice donor site probably null
Ingenuity UTSW 2 120,224,841 (GRCm39) critical splice donor site probably null
ANU18:Tmem87a UTSW 2 120,211,250 (GRCm39) missense probably benign 0.01
R0254:Tmem87a UTSW 2 120,205,988 (GRCm39) missense probably damaging 1.00
R0285:Tmem87a UTSW 2 120,224,905 (GRCm39) missense probably benign 0.01
R0498:Tmem87a UTSW 2 120,224,946 (GRCm39) missense probably benign 0.01
R0611:Tmem87a UTSW 2 120,205,929 (GRCm39) missense possibly damaging 0.46
R0632:Tmem87a UTSW 2 120,190,023 (GRCm39) missense probably damaging 1.00
R0787:Tmem87a UTSW 2 120,200,965 (GRCm39) missense probably benign 0.22
R1599:Tmem87a UTSW 2 120,224,868 (GRCm39) missense probably damaging 1.00
R1977:Tmem87a UTSW 2 120,204,985 (GRCm39) missense probably benign 0.02
R2059:Tmem87a UTSW 2 120,199,773 (GRCm39) missense probably damaging 1.00
R2396:Tmem87a UTSW 2 120,234,540 (GRCm39) start codon destroyed probably null 0.02
R2496:Tmem87a UTSW 2 120,224,859 (GRCm39) missense probably damaging 0.96
R4478:Tmem87a UTSW 2 120,199,824 (GRCm39) nonsense probably null
R4621:Tmem87a UTSW 2 120,227,905 (GRCm39) missense probably benign 0.00
R4739:Tmem87a UTSW 2 120,190,518 (GRCm39) critical splice donor site probably null
R5138:Tmem87a UTSW 2 120,202,026 (GRCm39) missense possibly damaging 0.88
R5314:Tmem87a UTSW 2 120,208,407 (GRCm39) missense probably damaging 0.99
R5391:Tmem87a UTSW 2 120,193,358 (GRCm39) critical splice donor site probably null
R5536:Tmem87a UTSW 2 120,227,911 (GRCm39) missense probably damaging 0.96
R5618:Tmem87a UTSW 2 120,199,787 (GRCm39) missense probably benign 0.44
R5642:Tmem87a UTSW 2 120,234,427 (GRCm39) missense probably benign 0.00
R5884:Tmem87a UTSW 2 120,234,605 (GRCm39) unclassified probably benign
R6104:Tmem87a UTSW 2 120,224,905 (GRCm39) missense probably benign 0.01
R6158:Tmem87a UTSW 2 120,190,584 (GRCm39) splice site probably null
R6195:Tmem87a UTSW 2 120,222,656 (GRCm39) splice site probably null
R6233:Tmem87a UTSW 2 120,222,656 (GRCm39) splice site probably null
R6261:Tmem87a UTSW 2 120,234,502 (GRCm39) missense possibly damaging 0.57
R6403:Tmem87a UTSW 2 120,211,252 (GRCm39) missense possibly damaging 0.94
R6405:Tmem87a UTSW 2 120,210,231 (GRCm39) missense probably damaging 1.00
R6540:Tmem87a UTSW 2 120,234,400 (GRCm39) missense probably benign 0.00
R6583:Tmem87a UTSW 2 120,205,958 (GRCm39) missense possibly damaging 0.93
R6995:Tmem87a UTSW 2 120,193,409 (GRCm39) missense possibly damaging 0.91
R7081:Tmem87a UTSW 2 120,211,264 (GRCm39) missense possibly damaging 0.88
R7384:Tmem87a UTSW 2 120,202,004 (GRCm39) critical splice donor site probably null
R7558:Tmem87a UTSW 2 120,204,991 (GRCm39) missense probably benign 0.00
R7904:Tmem87a UTSW 2 120,210,198 (GRCm39) missense probably damaging 1.00
R8124:Tmem87a UTSW 2 120,222,676 (GRCm39) missense probably benign
R8165:Tmem87a UTSW 2 120,200,959 (GRCm39) missense possibly damaging 0.95
R8259:Tmem87a UTSW 2 120,227,928 (GRCm39) missense possibly damaging 0.65
R8315:Tmem87a UTSW 2 120,234,441 (GRCm39) missense probably damaging 0.99
R8971:Tmem87a UTSW 2 120,190,541 (GRCm39) missense
R9124:Tmem87a UTSW 2 120,224,841 (GRCm39) critical splice donor site probably null
R9157:Tmem87a UTSW 2 120,210,093 (GRCm39) missense possibly damaging 0.66
R9188:Tmem87a UTSW 2 120,233,244 (GRCm39) missense probably benign
Posted On 2015-04-16