Incidental Mutation 'R8259:Tmem87a'
ID 640417
Institutional Source Beutler Lab
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
MMRRC Submission 067650-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R8259 (G1)
Quality Score 192.009
Status Validated
Chromosome 2
Chromosomal Location 120185793-120234594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 120227928 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 73 (F73S)
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: F73S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: F73S

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: F73S

PolyPhen 2 Score 0.653 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: F73S

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: F73S

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: F73S

DomainStartEndE-ValueType
Pfam:Lung_7-TM_R 184 472 2.4e-86 PFAM
low complexity region 481 487 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.4%
Validation Efficiency 100% (82/82)
Allele List at MGI
Other mutations in this stock
Total: 83 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca15 A T 7: 119,939,422 (GRCm39) H272L probably benign Het
Abcg5 T G 17: 84,983,523 (GRCm39) T144P possibly damaging Het
Adam34 G A 8: 44,104,646 (GRCm39) S333L probably benign Het
Adcy6 A G 15: 98,498,919 (GRCm39) F294S probably damaging Het
Adhfe1 A G 1: 9,628,417 (GRCm39) N263S probably null Het
Aebp2 A T 6: 140,583,453 (GRCm39) Q309L possibly damaging Het
Akap7 A G 10: 25,047,054 (GRCm39) Y281H probably damaging Het
Aplf T C 6: 87,606,987 (GRCm39) R476G probably benign Het
Atg2a G A 19: 6,299,859 (GRCm39) A588T probably damaging Het
Birc6 A G 17: 74,905,073 (GRCm39) T1289A probably benign Het
Cacna1d A G 14: 29,773,475 (GRCm39) S1759P probably benign Het
Calcoco1 T C 15: 102,624,228 (GRCm39) D236G probably damaging Het
Camsap2 A T 1: 136,208,077 (GRCm39) D470E probably benign Het
Capn8 G T 1: 182,392,698 (GRCm39) V25L probably benign Het
Card10 A G 15: 78,660,884 (GRCm39) V1041A probably damaging Het
Ccr1 T A 9: 123,764,119 (GRCm39) H137L probably damaging Het
Cdh23 A T 10: 60,151,435 (GRCm39) D2483E probably damaging Het
Chd2 G T 7: 73,085,532 (GRCm39) Q1701K probably benign Het
Ckmt2 T A 13: 92,007,335 (GRCm39) R286S probably damaging Het
Clhc1 G A 11: 29,503,746 (GRCm39) R54Q probably benign Het
Cntnap3 T A 13: 64,935,681 (GRCm39) D394V probably damaging Het
Comp A G 8: 70,831,704 (GRCm39) D441G probably damaging Het
Cyp20a1 G A 1: 60,391,330 (GRCm39) probably null Het
Cyp27a1 A T 1: 74,771,214 (GRCm39) D133V probably benign Het
Cyp2a12 C T 7: 26,732,083 (GRCm39) Q275* probably null Het
Dnhd1 A T 7: 105,343,995 (GRCm39) I1780L probably benign Het
Dpy19l2 A G 9: 24,580,702 (GRCm39) V213A probably benign Het
Eml1 A T 12: 108,476,458 (GRCm39) I283F probably damaging Het
Ep300 A G 15: 81,523,218 (GRCm39) T1281A unknown Het
Ercc6l2 G A 13: 64,020,285 (GRCm39) E803K Het
Fat3 A G 9: 15,901,887 (GRCm39) V3046A possibly damaging Het
Fbxw20 A G 9: 109,063,763 (GRCm39) V3A probably benign Het
Fcgr2b A G 1: 170,795,702 (GRCm39) S76P possibly damaging Het
Fgg C T 3: 82,917,477 (GRCm39) Q169* probably null Het
Flnb A G 14: 7,889,183 (GRCm38) Y511C probably damaging Het
Ggt5 G A 10: 75,450,666 (GRCm39) V558I probably benign Het
Gm4779 G C X: 100,837,390 (GRCm39) T171S possibly damaging Het
Greb1 A T 12: 16,774,925 (GRCm39) C157* probably null Het
Grid2ip A G 5: 143,348,344 (GRCm39) E145G probably benign Het
Hdac11 T A 6: 91,149,210 (GRCm39) V238E probably damaging Het
Herc2 A G 7: 55,855,638 (GRCm39) D3858G probably damaging Het
Hoxc4 A G 15: 102,943,165 (GRCm39) Y6C probably damaging Het
Incenp A G 19: 9,870,993 (GRCm39) L212P unknown Het
Incenp G C 19: 9,871,005 (GRCm39) T208R unknown Het
Mctp1 T A 13: 76,949,666 (GRCm39) probably null Het
Megf8 T C 7: 25,057,848 (GRCm39) M2095T probably benign Het
Mroh2b G A 15: 4,941,391 (GRCm39) V308I probably benign Het
Muc1 T A 3: 89,139,341 (GRCm39) H580Q probably damaging Het
Naip6 A T 13: 100,452,920 (GRCm39) M47K probably benign Het
Nectin3 C T 16: 46,256,754 (GRCm39) R419Q probably benign Het
Nlrp4g T G 9: 124,353,392 (GRCm38) Y579D noncoding transcript Het
Nrxn1 C A 17: 90,471,249 (GRCm39) R1260L probably damaging Het
Nynrin A G 14: 56,100,815 (GRCm39) I202V possibly damaging Het
Or14j7 T C 17: 38,234,847 (GRCm39) L130P probably damaging Het
Or51e2 A G 7: 102,392,034 (GRCm39) Y59H probably damaging Het
Or5ac17 T C 16: 59,036,458 (GRCm39) I173V probably benign Het
Or5b98 T C 19: 12,931,727 (GRCm39) M258T possibly damaging Het
Pard3 G A 8: 128,098,021 (GRCm39) W354* probably null Het
Pcnx3 C T 19: 5,715,412 (GRCm39) G1946E probably damaging Het
Peak1 A G 9: 56,166,677 (GRCm39) V417A probably damaging Het
Prune2 A G 19: 17,189,672 (GRCm39) R3052G unknown Het
Prx T C 7: 27,218,808 (GRCm39) L1242P probably damaging Het
Pxylp1 A G 9: 96,707,633 (GRCm39) I183T probably benign Het
Ranbp2 A G 10: 58,291,755 (GRCm39) E254G probably benign Het
Ren1 C T 1: 133,278,534 (GRCm39) R31* probably null Het
Rhot2 C A 17: 26,058,864 (GRCm39) R512L probably benign Het
Rpa1 T C 11: 75,193,550 (GRCm39) N594D probably benign Het
Rpp14 T G 14: 8,090,526 (GRCm38) V150G probably null Het
Rxfp2 T A 5: 149,983,365 (GRCm39) I300K probably damaging Het
Sbno1 A T 5: 124,519,759 (GRCm39) V1173E probably damaging Het
Scarf1 T A 11: 75,414,689 (GRCm39) S486T probably damaging Het
Slc24a4 T C 12: 102,220,928 (GRCm39) V455A probably damaging Het
Slitrk1 A G 14: 109,148,653 (GRCm39) V686A probably benign Het
Spata31e2 T C 1: 26,721,562 (GRCm39) E1206G probably benign Het
Ston2 A T 12: 91,608,454 (GRCm39) I882N probably benign Het
Syne2 C A 12: 75,996,143 (GRCm39) Q2228K possibly damaging Het
Tcf20 A C 15: 82,736,474 (GRCm39) F1659C probably damaging Het
Tenm4 G A 7: 96,517,198 (GRCm39) G1430S probably damaging Het
Tlr12 C A 4: 128,511,492 (GRCm39) A253S probably benign Het
Trpm1 G A 7: 63,918,777 (GRCm39) A1590T probably benign Het
Usp13 C T 3: 32,971,748 (GRCm39) Q743* probably null Het
Vmn1r184 T A 7: 25,966,686 (GRCm39) M144K probably benign Het
Wee2 A G 6: 40,421,114 (GRCm39) D68G 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
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
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
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'- CGCACTACTCTTTCTGTGTAAAG -3'
(R):5'- GGCAGCAGTGACGTTATTGTC -3'

Sequencing Primer
(F):5'- ACTCTTTCTGTGTAAAGTTAGGAGGC -3'
(R):5'- CTCCTGTAATCGCAACATTGGAGG -3'
Posted On 2020-07-28