Incidental Mutation 'R5618:Tmem87a'
ID 439618
Institutional Source Beutler Lab
Gene Symbol Tmem87a
Ensembl Gene ENSMUSG00000033808
Gene Name transmembrane protein 87A
Synonyms A930025J12Rik
MMRRC Submission 043277-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.266) question?
Stock # R5618 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 120185793-120234594 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 120199787 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Phenylalanine at position 452 (L452F)
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 benign
Transcript: ENSMUST00000090042
AA Change: L451F

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087496
Gene: ENSMUSG00000033808
AA Change: L451F

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: L452F

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000087500
Gene: ENSMUSG00000033808
AA Change: L452F

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: L452F

PolyPhen 2 Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000106357
Gene: ENSMUSG00000033808
AA Change: L452F

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: 99.3%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700028K03Rik G A 5: 107,696,065 (GRCm39) W167* probably null Het
Acvr1 C T 2: 58,352,955 (GRCm39) R335Q probably damaging Het
Atg7 A G 6: 114,650,660 (GRCm39) D67G probably damaging Het
Avil T C 10: 126,846,446 (GRCm39) F417S possibly damaging Het
AW551984 A T 9: 39,502,000 (GRCm39) L702Q probably damaging Het
Bcl7a A T 5: 123,499,265 (GRCm39) N95Y probably damaging Het
Cblb A G 16: 51,973,031 (GRCm39) D454G possibly damaging Het
Cc2d2a A T 5: 43,887,249 (GRCm39) Q1226H probably benign Het
Cct5 A G 15: 31,598,161 (GRCm39) S13P possibly damaging Het
Clca3a1 C T 3: 144,710,738 (GRCm39) E822K probably benign Het
Csgalnact2 A T 6: 118,103,277 (GRCm39) D228E probably damaging Het
Defb12 A T 8: 19,164,814 (GRCm39) M8K possibly damaging Het
Dipk1b T C 2: 26,524,887 (GRCm39) S96P probably damaging Het
Dysf A G 6: 84,083,806 (GRCm39) D736G probably benign Het
Exog G T 9: 119,291,817 (GRCm39) D365Y probably damaging Het
Fam222b T G 11: 78,045,066 (GRCm39) V81G probably benign Het
Fbl A G 7: 27,878,411 (GRCm39) E301G probably damaging Het
Fez1 A T 9: 36,755,228 (GRCm39) N76Y probably damaging Het
Gnb4 C T 3: 32,645,356 (GRCm39) V112I probably benign Het
H2-Q4 T A 17: 35,598,901 (GRCm39) F57Y probably damaging Het
Ift88 T C 14: 57,718,965 (GRCm39) I650T possibly damaging Het
Kif1b A T 4: 149,354,346 (GRCm39) D231E possibly damaging Het
Lig4 A T 8: 10,022,021 (GRCm39) D586E probably benign Het
Mlc1 C A 15: 88,858,769 (GRCm39) L126F probably damaging Het
Muc4 A G 16: 32,754,253 (GRCm38) T1376A probably benign Het
Ncoa6 A T 2: 155,279,817 (GRCm39) D66E possibly damaging Het
Or6ae1 A G 7: 139,742,185 (GRCm39) V226A probably damaging Het
Or8b44 C T 9: 38,410,036 (GRCm39) Q24* probably null Het
Pard6a T C 8: 106,429,546 (GRCm39) V168A probably damaging Het
Pmpcb A G 5: 21,947,786 (GRCm39) N163S possibly damaging Het
Pramel27 A T 4: 143,577,263 (GRCm39) E15V possibly damaging Het
Prdm2 C T 4: 142,860,107 (GRCm39) C1061Y probably benign Het
Prkdc A G 16: 15,627,476 (GRCm39) Y3378C probably damaging Het
Sema6a A T 18: 47,415,015 (GRCm39) V425E probably damaging Het
Sema7a A T 9: 57,867,566 (GRCm39) E439D possibly damaging Het
Serpinf1 T A 11: 75,301,010 (GRCm39) T402S possibly damaging Het
Sf3a2 T C 10: 80,640,410 (GRCm39) probably benign Het
Skic3 T A 13: 76,321,545 (GRCm39) S1346T probably benign Het
Smchd1 A T 17: 71,762,722 (GRCm39) D172E probably damaging Het
Spag5 T G 11: 78,194,906 (GRCm39) I71S probably benign Het
Spata31d1d G A 13: 59,874,214 (GRCm39) A1107V probably benign Het
Svep1 A C 4: 58,070,537 (GRCm39) S2416R probably benign Het
Tbc1d9 A G 8: 83,969,221 (GRCm39) Y503C probably damaging Het
Tlr9 A T 9: 106,101,938 (GRCm39) I410F possibly damaging Het
Tmprss11d A T 5: 86,454,154 (GRCm39) M217K probably benign Het
Uqcc4 G A 17: 25,403,963 (GRCm39) S101N probably damaging Het
Vmn2r80 T C 10: 78,984,755 (GRCm39) Y36H probably benign Het
Vmn2r87 A T 10: 130,315,817 (GRCm39) F83Y probably damaging Het
Vmp1 C T 11: 86,554,388 (GRCm39) R75H probably benign Het
Wapl T A 14: 34,413,863 (GRCm39) Y242N possibly damaging Het
Zfp473 T A 7: 44,391,156 (GRCm39) D6V 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
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
Predicted Primers PCR Primer
(F):5'- AAGTGTGTCTACCCATCTCCAC -3'
(R):5'- ACCTTTGCTCTAGCCACAGTAAG -3'

Sequencing Primer
(F):5'- TCTCCACTATGCAACACAGTCCTG -3'
(R):5'- TGCTCTAGCCACAGTAAGTATGAC -3'
Posted On 2016-11-08