Incidental Mutation 'R7904:Tmem87a'
ID 610138
Institutional Source Beutler Lab
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
MMRRC Submission 045956-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R7904 (G1)
Quality Score 225.009
Status Validated
Chromosome 2
Chromosomal Location 120185793-120234594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120210198 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 252 (S252P)
Ref Sequence ENSEMBL: ENSMUSP00000087500 (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: S252P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: S252P

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 471 1.1e-87 PFAM
low complexity region 480 486 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000090046
AA Change: S252P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: S252P

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 185 472 1.5e-85 PFAM
low complexity region 481 487 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000110729
AA Change: S252P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: S252P

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 472 2.4e-86 PFAM
low complexity region 481 487 N/A INTRINSIC
Meta Mutation Damage Score 0.4099 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
Validation Efficiency 97% (72/74)
Allele List at MGI
Other mutations in this stock
Total: 75 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam8 G A 7: 139,567,591 (GRCm39) T384I probably benign Het
Astn1 T C 1: 158,424,886 (GRCm39) F691L probably benign Het
Azgp1 A G 5: 137,985,869 (GRCm39) E164G probably damaging Het
Bdp1 A G 13: 100,177,944 (GRCm39) V1975A probably benign Het
Cactin T C 10: 81,161,699 (GRCm39) Y744H possibly damaging Het
Clstn1 T A 4: 149,698,594 (GRCm39) I60N probably benign Het
Col16a1 T A 4: 129,948,001 (GRCm39) C240* probably null Het
Col6a5 T C 9: 105,805,720 (GRCm39) D1062G unknown Het
Csmd2 T C 4: 128,313,346 (GRCm39) L1341P Het
Cyp51 A T 5: 4,150,173 (GRCm39) F183L probably damaging Het
Dbnl T A 11: 5,741,779 (GRCm39) probably null Het
Ddx60 G A 8: 62,430,924 (GRCm39) V820I possibly damaging Het
Dnaaf9 A T 2: 130,633,923 (GRCm39) probably null Het
Dnah11 T A 12: 117,867,003 (GRCm39) D4046V possibly damaging Het
Dnah6 G A 6: 73,112,450 (GRCm39) probably null Het
Dnttip1 A G 2: 164,589,472 (GRCm39) Y89C probably benign Het
Efr3a T A 15: 65,696,527 (GRCm39) V144E probably damaging Het
Epha8 T C 4: 136,659,050 (GRCm39) Q868R possibly damaging Het
Ercc5 G T 1: 44,214,998 (GRCm39) probably null Het
Fam118a A G 15: 84,929,834 (GRCm39) S21G probably damaging Het
Fam171b T C 2: 83,683,849 (GRCm39) I122T probably damaging Het
Fat4 T A 3: 38,941,690 (GRCm39) S194R probably damaging Het
Fcho2 T A 13: 98,932,871 (GRCm39) T44S possibly damaging Het
Gm21698 C A 5: 26,189,256 (GRCm39) L232F probably benign Het
Gpr149 T A 3: 62,502,356 (GRCm39) D500V probably benign Het
Gpx8 T A 13: 113,182,035 (GRCm39) T133S probably benign Het
Hdlbp A T 1: 93,351,092 (GRCm39) I542N probably damaging Het
Hid1 G A 11: 115,246,187 (GRCm39) S361F probably damaging Het
Igdcc4 C A 9: 65,041,801 (GRCm39) A1076E probably benign Het
Il4ra A G 7: 125,164,845 (GRCm39) K7E probably benign Het
Inka2 T C 3: 105,623,730 (GRCm39) C35R probably damaging Het
Itga9 G T 9: 118,706,294 (GRCm39) probably null Het
Kif5c T C 2: 49,591,095 (GRCm39) S316P probably damaging Het
Kmt5c A T 7: 4,749,158 (GRCm39) T264S probably damaging Het
Litafd A G 16: 8,501,681 (GRCm39) H61R Het
Lrrc18 A G 14: 32,731,052 (GRCm39) N197S probably benign Het
Mcoln1 C A 8: 3,558,356 (GRCm39) D203E probably benign Het
Mitf T C 6: 97,990,671 (GRCm39) V358A probably damaging Het
Mki67 A T 7: 135,294,816 (GRCm39) L3161Q possibly damaging Het
Mmp20 T A 9: 7,644,076 (GRCm39) F255I possibly damaging Het
Muc16 T C 9: 18,566,946 (GRCm39) T1858A unknown Het
Mug1 G A 6: 121,828,424 (GRCm39) V279I probably benign Het
Or6c68 T C 10: 129,157,665 (GRCm39) Y58H probably damaging Het
Otulin G T 15: 27,630,580 (GRCm39) A39E probably benign Het
Pcdh17 A T 14: 84,685,924 (GRCm39) D797V possibly damaging Het
Pdlim5 G A 3: 142,018,154 (GRCm39) S147L probably damaging Het
Peg10 GC GCTCC 6: 4,756,452 (GRCm39) probably benign Het
Ppp2r1a T G 17: 21,182,003 (GRCm39) probably null Het
Ranbp6 T C 19: 29,789,813 (GRCm39) I180V probably benign Het
Rbm27 G T 18: 42,465,921 (GRCm39) R869L probably damaging Het
Rtn4r A G 16: 17,969,349 (GRCm39) D259G probably benign Het
Ryr3 T C 2: 112,611,369 (GRCm39) E2271G probably damaging Het
Sbk1 A G 7: 125,891,208 (GRCm39) Y214C probably damaging Het
Scg3 C T 9: 75,551,149 (GRCm39) E459K probably damaging Het
Scin T G 12: 40,126,999 (GRCm39) E449D probably damaging Het
Sel1l3 T C 5: 53,297,166 (GRCm39) K760R probably benign Het
Sh3pxd2a A G 19: 47,308,753 (GRCm39) L145S possibly damaging Het
Sh3yl1 A G 12: 30,991,995 (GRCm39) D188G probably benign Het
Slc38a1 A T 15: 96,521,921 (GRCm39) L13Q possibly damaging Het
Smyd4 T C 11: 75,240,613 (GRCm39) I36T possibly damaging Het
Spata31f1a A G 4: 42,850,765 (GRCm39) S464P possibly damaging Het
Stab2 A T 10: 86,790,056 (GRCm39) L570* probably null Het
Tg G T 15: 66,577,128 (GRCm39) A1484S probably benign Het
Tm7sf2 A T 19: 6,118,942 (GRCm39) N677K probably damaging Het
Tmem235 T G 11: 117,751,717 (GRCm39) L47R probably damaging Het
Unc13b A G 4: 43,217,075 (GRCm39) D458G probably benign Het
Wfdc1 A G 8: 120,406,770 (GRCm39) probably null Het
Wnt16 A G 6: 22,297,989 (GRCm39) Y285C probably damaging Het
Wwc2 A T 8: 48,309,270 (GRCm39) N837K unknown Het
Xdh A G 17: 74,229,467 (GRCm39) F329L probably benign Het
Yaf2 G T 15: 93,183,466 (GRCm39) H115N probably benign Het
Zbtb16 G T 9: 48,744,272 (GRCm39) N13K probably damaging Het
Zfhx3 A T 8: 109,677,695 (GRCm39) D2915V probably damaging Het
Zfp236 A T 18: 82,627,507 (GRCm39) V1564E possibly damaging Het
Zfp407 G T 18: 84,579,381 (GRCm39) H577Q not run 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
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
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'- GCTGGTATGCATCTCATCTGGC -3'
(R):5'- TTTCGAAGAGAAGGTAGAGACTGTTTG -3'

Sequencing Primer
(F):5'- GAGAGACCTGATTCCCACATGTTG -3'
(R):5'- CATTCCCAATTGGATAACAG -3'
Posted On 2019-12-20