Incidental Mutation 'R0537:Tmem80'
ID 49504
Institutional Source Beutler Lab
Gene Symbol Tmem80
Ensembl Gene ENSMUSG00000025505
Gene Name transmembrane protein 80
Synonyms 5530601I19Rik
MMRRC Submission 038729-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # R0537 (G1)
Quality Score 96
Status Validated
Chromosome 7
Chromosomal Location 140908046-140917069 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 140913609 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 13 (Y13C)
Ref Sequence ENSEMBL: ENSMUSP00000117633 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026578] [ENSMUST00000126510] [ENSMUST00000128906] [ENSMUST00000132061] [ENSMUST00000133012] [ENSMUST00000145184]
AlphaFold Q9D3H0
Predicted Effect probably damaging
Transcript: ENSMUST00000026578
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000026578
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 108 2.4e-31 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000126510
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123330
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 109 1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128649
Predicted Effect probably damaging
Transcript: ENSMUST00000128906
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117306
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:Transmemb_17 25 78 5.4e-15 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000132061
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000118223
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 109 1e-30 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000133012
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000116695
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
Pfam:Transmemb_17 1 109 1e-30 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134221
Predicted Effect probably damaging
Transcript: ENSMUST00000145184
AA Change: Y13C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000117633
Gene: ENSMUSG00000025505
AA Change: Y13C

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:Transmemb_17 25 78 5.4e-15 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000155657
Meta Mutation Damage Score 0.2964 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 96.7%
  • 20x: 93.9%
Validation Efficiency 100% (53/53)
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik A T 14: 35,818,657 (GRCm39) K218N probably benign Het
Acot11 T C 4: 106,619,652 (GRCm39) E156G probably benign Het
Arhgef28 A T 13: 98,094,224 (GRCm39) N973K probably damaging Het
B4galt3 T C 1: 171,101,821 (GRCm39) probably benign Het
Bmpr1a T C 14: 34,165,769 (GRCm39) probably benign Het
Camkmt A T 17: 85,702,087 (GRCm39) I184F probably benign Het
Ccdc33 T C 9: 58,024,737 (GRCm39) Y163C probably damaging Het
Ccdc9 A G 7: 16,014,701 (GRCm39) probably benign Het
Dars2 A T 1: 160,888,318 (GRCm39) C201S possibly damaging Het
Dnajc1 A T 2: 18,312,767 (GRCm39) S194R possibly damaging Het
Dock8 A G 19: 25,148,941 (GRCm39) D1473G probably benign Het
Dpm2 T A 2: 32,462,961 (GRCm39) probably null Het
Dsg4 T C 18: 20,591,628 (GRCm39) S456P probably damaging Het
Gys1 T C 7: 45,089,425 (GRCm39) S195P probably damaging Het
Heatr6 G T 11: 83,670,290 (GRCm39) E948* probably null Het
Itgal G A 7: 126,910,445 (GRCm39) R518Q possibly damaging Het
Klhdc8b G C 9: 108,326,422 (GRCm39) R158G possibly damaging Het
Klhl41 G A 2: 69,500,554 (GRCm39) R5Q probably benign Het
Lrrtm4 A T 6: 79,999,103 (GRCm39) T172S probably benign Het
Lypd1 A G 1: 125,840,604 (GRCm39) probably benign Het
Mei1 T C 15: 81,975,562 (GRCm39) F121S possibly damaging Het
Mtor C T 4: 148,622,817 (GRCm39) R1966W probably damaging Het
Myh7 A G 14: 55,228,256 (GRCm39) F247L possibly damaging Het
Nebl G T 2: 17,409,026 (GRCm39) D392E possibly damaging Het
Notch2 C A 3: 98,024,057 (GRCm39) N840K possibly damaging Het
Nubp1 T C 16: 10,240,678 (GRCm39) probably benign Het
Or5w16 A T 2: 87,577,017 (GRCm39) Q159L probably benign Het
Or7g19 T C 9: 18,856,444 (GRCm39) S167P probably damaging Het
Pcdh17 T A 14: 84,684,897 (GRCm39) S455T probably damaging Het
Picalm C A 7: 89,779,876 (GRCm39) H32Q probably benign Het
Pold1 T C 7: 44,184,516 (GRCm39) E828G probably damaging Het
Ptpro T A 6: 137,420,592 (GRCm39) V1007D probably damaging Het
Rala A T 13: 18,063,233 (GRCm39) N119K probably benign Het
Rasal2 A T 1: 156,975,362 (GRCm39) V1149E possibly damaging Het
Rd3 A G 1: 191,715,501 (GRCm39) Y92C probably damaging Het
Rps18-ps6 A T 13: 97,897,071 (GRCm39) F9Y probably benign Het
Sart1 A T 19: 5,431,752 (GRCm39) D635E probably damaging Het
Sec16b A G 1: 157,365,116 (GRCm39) T335A possibly damaging Het
Slc11a2 C T 15: 100,303,679 (GRCm39) G185R probably damaging Het
Slc2a12 G A 10: 22,540,967 (GRCm39) R274H probably damaging Het
Spag17 T C 3: 100,032,618 (GRCm39) V2276A probably damaging Het
Tcam1 G A 11: 106,174,904 (GRCm39) E120K probably benign Het
Tenm2 T C 11: 36,054,557 (GRCm39) D601G probably damaging Het
Tmem168 C A 6: 13,603,360 (GRCm39) C2F probably damaging Het
Try4 T A 6: 41,281,296 (GRCm39) N79K probably benign Het
Vldlr C A 19: 27,225,318 (GRCm39) N798K probably damaging Het
Wdr41 A G 13: 95,131,813 (GRCm39) probably benign Het
Zfp30 A T 7: 29,492,160 (GRCm39) E138V probably damaging Het
Zfp366 A C 13: 99,365,786 (GRCm39) T316P probably damaging Het
Zfp563 A T 17: 33,323,659 (GRCm39) S85C possibly damaging Het
Znfx1 T C 2: 166,883,621 (GRCm39) H162R probably damaging Het
Other mutations in Tmem80
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0539:Tmem80 UTSW 7 140,915,808 (GRCm39) missense possibly damaging 0.67
R3935:Tmem80 UTSW 7 140,913,938 (GRCm39) missense probably damaging 1.00
R4112:Tmem80 UTSW 7 140,913,692 (GRCm39) intron probably benign
R6442:Tmem80 UTSW 7 140,915,839 (GRCm39) missense probably benign 0.01
Z1177:Tmem80 UTSW 7 140,908,179 (GRCm39) unclassified probably benign
Predicted Primers PCR Primer
(F):5'- TGCCCTTCTGTCAGAATGTCCCAG -3'
(R):5'- AGATCCAGGGCCAGACAGTTACAAG -3'

Sequencing Primer
(F):5'- TTGTGTCCCATTGGTGATCC -3'
(R):5'- ccaagtacactgtagctgttttc -3'
Posted On 2013-06-12