Incidental Mutation 'R6684:Tmem71'
ID 527629
Institutional Source Beutler Lab
Gene Symbol Tmem71
Ensembl Gene ENSMUSG00000036944
Gene Name transmembrane protein 71
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R6684 (G1)
Quality Score 225.009
Status Not validated
Chromosome 15
Chromosomal Location 66526212-66561103 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 66541690 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 178 (S178P)
Ref Sequence ENSEMBL: ENSMUSP00000044493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048372]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000048372
AA Change: S178P

PolyPhen 2 Score 0.740 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: S178P

DomainStartEndE-ValueType
Pfam:TMEM71 1 152 1.9e-85 PFAM
low complexity region 153 165 N/A INTRINSIC
low complexity region 185 201 N/A INTRINSIC
transmembrane domain 224 246 N/A INTRINSIC
transmembrane domain 250 272 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.1%
Validation Efficiency 94% (33/35)
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcf2 G A 5: 24,569,139 R322W probably damaging Het
Capns1 C A 7: 30,193,899 G63V probably damaging Het
Carmil1 G A 13: 24,022,542 T5M unknown Het
Cr2 T A 1: 195,171,021 K70* probably null Het
Dapk1 T A 13: 60,760,894 I1107N probably damaging Het
Ehd4 A G 2: 120,154,334 F48L probably damaging Het
Fam221a G T 6: 49,372,608 E36* probably null Het
Fam81b G A 13: 76,202,038 Q423* probably null Het
Galnt7 C T 8: 57,538,109 V456I probably benign Het
Gm10801 C CGTA 2: 98,663,807 probably null Het
Hrc A G 7: 45,336,532 H369R possibly damaging Het
Impg2 T G 16: 56,259,929 S590A probably benign Het
Lcn3 A T 2: 25,766,158 H75L probably benign Het
Lims1 T A 10: 58,399,013 probably null Het
Lkaaear1 TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG TCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAGCTCCAG 2: 181,697,561 probably benign Het
Olfr507 A G 7: 108,621,934 T41A probably damaging Het
Orai3 A G 7: 127,773,720 N131S probably damaging Het
Pcdhga7 T C 18: 37,716,050 L370P probably damaging Het
Phtf2 A G 5: 20,812,939 probably benign Het
Plcg2 T C 8: 117,596,332 Y709H probably damaging Het
Pmfbp1 T C 8: 109,535,830 S719P probably benign Het
Polr3g A T 13: 81,699,531 probably null Het
Ppp4r1 G A 17: 65,824,342 A360T probably benign Het
Pramel6 T C 2: 87,509,404 W171R probably damaging Het
Rad54b T C 4: 11,583,689 probably benign Het
Rasl10a G A 11: 5,058,396 E31K possibly damaging Het
Ryr3 T C 2: 112,753,088 R2813G probably damaging Het
Trim58 A G 11: 58,651,620 T469A probably benign Het
Vash1 A G 12: 86,688,909 T190A probably damaging Het
Ythdc2 T C 18: 44,873,069 S1210P possibly damaging Het
Zfp42 G A 8: 43,296,056 T136M possibly damaging Het
Zfp595 T C 13: 67,320,277 Y72C probably damaging Het
Other mutations in Tmem71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02183:Tmem71 APN 15 66555025 splice site probably benign
IGL02517:Tmem71 APN 15 66541617 missense probably benign
R1766:Tmem71 UTSW 15 66541699 missense probably benign 0.00
R2321:Tmem71 UTSW 15 66552000 missense possibly damaging 0.73
R4965:Tmem71 UTSW 15 66538861 missense probably benign
R5180:Tmem71 UTSW 15 66555214 missense probably benign 0.01
R5181:Tmem71 UTSW 15 66555214 missense probably benign 0.01
R5324:Tmem71 UTSW 15 66555214 missense probably benign 0.01
R5736:Tmem71 UTSW 15 66532647 missense probably benign 0.04
R8278:Tmem71 UTSW 15 66555112 missense probably damaging 1.00
R8443:Tmem71 UTSW 15 66541572 critical splice donor site probably null
R8808:Tmem71 UTSW 15 66538806 missense possibly damaging 0.87
R8906:Tmem71 UTSW 15 66532757 missense probably benign 0.04
Predicted Primers
Posted On 2018-07-23