Incidental Mutation 'R6403:Tmem87a'
ID 516212
Institutional Source Beutler Lab
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
MMRRC Submission 044382-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R6403 (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 120211252 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 231 (M231K)
Ref Sequence ENSEMBL: ENSMUSP00000106357 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000090042] [ENSMUST00000090046] [ENSMUST00000110729]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000090042
AA Change: M231K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: M231K

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: M231K

PolyPhen 2 Score 0.365 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: M231K

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: M231K

PolyPhen 2 Score 0.945 (Sensitivity: 0.80; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: M231K

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aars1 A G 8: 111,768,881 (GRCm39) D227G possibly damaging Het
Aox1 A G 1: 58,107,594 (GRCm39) I623V probably damaging Het
Camsap2 G A 1: 136,208,538 (GRCm39) R317* probably null Het
Carmil1 G A 13: 24,265,950 (GRCm39) R271C probably damaging Het
Ces2b T A 8: 105,562,901 (GRCm39) L323* probably null Het
Copb1 T A 7: 113,837,686 (GRCm39) I286F probably damaging Het
Dnajb11 T A 16: 22,689,691 (GRCm39) V285D probably damaging Het
Dok5 G T 2: 170,671,820 (GRCm39) A79S probably damaging Het
Enpp2 T C 15: 54,727,160 (GRCm39) N557S probably damaging Het
Hexa G A 9: 59,464,644 (GRCm39) R178H probably damaging Het
Iars1 T C 13: 49,840,971 (GRCm39) S35P probably damaging Het
Il3ra G T 14: 14,347,137 (GRCm38) A3S probably damaging Het
Iqcm T C 8: 76,304,624 (GRCm39) probably null Het
Krt9 G T 11: 100,080,485 (GRCm39) S420R probably damaging Het
Lca5l T C 16: 95,975,045 (GRCm39) N293S probably benign Het
Mb21d2 A G 16: 28,647,269 (GRCm39) I235T possibly damaging Het
Ncbp3 A G 11: 72,969,802 (GRCm39) T550A probably benign Het
Nckipsd G T 9: 108,688,882 (GRCm39) R139L possibly damaging Het
Nxn A G 11: 76,289,846 (GRCm39) V14A probably benign Het
Or8d2b T C 9: 38,788,538 (GRCm39) L22P probably damaging Het
Pramel22 G A 4: 143,382,343 (GRCm39) Q118* probably null Het
Rprd2 C A 3: 95,673,399 (GRCm39) C668F possibly damaging Het
Trappc8 A G 18: 20,999,128 (GRCm39) V333A probably benign Het
Trit1 C A 4: 122,933,372 (GRCm39) T103K possibly damaging Het
Tspan13 A G 12: 36,065,704 (GRCm39) F203S probably damaging Het
Vmn2r114 C T 17: 23,528,939 (GRCm39) D388N probably damaging Het
Zfp617 C T 8: 72,683,015 (GRCm39) A55V 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
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
Predicted Primers PCR Primer
(F):5'- TACATACACTCTCTCAAGGTCACTG -3'
(R):5'- GCATTTTCCACCATGATTGAAGTAC -3'

Sequencing Primer
(F):5'- CCTTAACTGTAGTTCAAGGGGATCC -3'
(R):5'- TCCACCATGATTGAAGTACTTAAAAG -3'
Posted On 2018-05-04