Incidental Mutation 'R6583:Tmem87a'
ID 524211
Institutional Source Beutler Lab
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
MMRRC Submission 044707-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R6583 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 120185793-120234594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 120205958 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Glutamic Acid at position 339 (V339E)
Ref Sequence ENSEMBL: ENSMUSP00000087496 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090042] [ENSMUST00000090046] [ENSMUST00000110729]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000090042
AA Change: V339E

PolyPhen 2 Score 0.930 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: V339E

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 471 1.1e-87 PFAM
low complexity region 480 486 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000090046
AA Change: V339E

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: V339E

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 185 472 1.5e-85 PFAM
low complexity region 481 487 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000110729
AA Change: V339E

PolyPhen 2 Score 0.885 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: V339E

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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.4%
  • 20x: 95.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ank2 A C 3: 126,810,613 (GRCm39) I491S probably damaging Het
Armc12 A T 17: 28,757,588 (GRCm39) Q240L probably null Het
Cntnap5c C T 17: 58,637,272 (GRCm39) P1050S probably damaging Het
Col4a3 C A 1: 82,619,197 (GRCm39) A42E unknown Het
D630003M21Rik A G 2: 158,062,436 (GRCm39) V28A probably damaging Het
Dbf4 A G 5: 8,448,143 (GRCm39) S355P probably damaging Het
Dnah6 A G 6: 73,150,516 (GRCm39) V749A probably benign Het
Exoc4 T C 6: 33,792,688 (GRCm39) L606P probably damaging Het
Fggy T C 4: 95,489,210 (GRCm39) S109P probably benign Het
Gdf7 T A 12: 8,351,758 (GRCm39) Q59L unknown Het
M6pr T C 6: 122,290,349 (GRCm39) V104A probably damaging Het
Macf1 A T 4: 123,364,739 (GRCm39) probably null Het
Micu2 T C 14: 58,181,127 (GRCm39) K169R probably damaging Het
Mthfd1l A G 10: 3,997,937 (GRCm39) D636G probably damaging Het
Myo1c C T 11: 75,562,461 (GRCm39) P918S probably benign Het
Nfib T G 4: 82,416,708 (GRCm39) D125A probably damaging Het
Nuf2 T C 1: 169,332,117 (GRCm39) T393A probably benign Het
Or8b49 G A 9: 38,506,260 (GRCm39) V248I possibly damaging Het
Paox T A 7: 139,706,291 (GRCm39) N70K probably damaging Het
Pnma8b A G 7: 16,679,844 (GRCm39) N276S probably damaging Het
Ralgds G A 2: 28,423,656 (GRCm39) A32T probably damaging Het
Samd11 T A 4: 156,332,591 (GRCm39) N446I possibly damaging Het
Soat1 T C 1: 156,294,062 (GRCm39) probably null Het
Tmprss13 G T 9: 45,256,603 (GRCm39) C516F probably damaging Het
Vmn2r69 T C 7: 85,059,017 (GRCm39) T515A probably benign Het
Xrcc5 T C 1: 72,351,752 (GRCm39) probably null Het
Ywhaz T C 15: 36,791,166 (GRCm39) Y19C probably damaging Het
Zfp964 G T 8: 70,115,633 (GRCm39) D78Y probably damaging 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
IGL02083:Tmem87a APN 2 120,227,861 (GRCm39) missense probably damaging 1.00
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
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
Predicted Primers PCR Primer
(F):5'- TATTGGAAGTCAGAGCCCACG -3'
(R):5'- ACAAGGGACCAGATCTTGTTCTAG -3'

Sequencing Primer
(F):5'- CCCACGGGCAGCAAGAG -3'
(R):5'- CTTCGTATGTTACCGGTC -3'
Posted On 2018-06-22