Incidental Mutation 'R5324:Tmem71'
ID 405034
Institutional Source Beutler Lab
Gene Symbol Tmem71
Ensembl Gene ENSMUSG00000036944
Gene Name transmembrane protein 71
Synonyms
MMRRC Submission 042907-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.073) question?
Stock # R5324 (G1)
Quality Score 225
Status Not validated
Chromosome 15
Chromosomal Location 66526212-66561103 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) C to T at 66555214 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Serine to Asparagine at position 44 (S44N)
Ref Sequence ENSEMBL: ENSMUSP00000044493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048372]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000048372
AA Change: S44N

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: S44N

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: 99.3%
  • 3x: 98.7%
  • 10x: 97.6%
  • 20x: 96.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130019O22Rik G T 7: 127,384,907 probably benign Het
Akap10 C T 11: 61,916,189 A72T probably damaging Het
Ap5b1 G A 19: 5,569,835 E428K possibly damaging Het
Bmp2 C T 2: 133,561,359 R277* probably null Het
Cbl A T 9: 44,154,254 S659T probably damaging Het
Col14a1 A T 15: 55,338,445 H43L unknown Het
Corin A G 5: 72,435,257 C133R probably damaging Het
Cyp1a1 A G 9: 57,702,369 N401S probably benign Het
Dip2a T C 10: 76,296,393 D508G probably damaging Het
Dnah2 T A 11: 69,457,993 H2556L probably benign Het
Dock8 T C 19: 25,163,094 F1333L probably benign Het
Epg5 A G 18: 77,962,445 K717E possibly damaging Het
Fmn2 G A 1: 174,608,880 probably benign Het
Gm4787 G C 12: 81,377,830 T518S probably benign Het
Hbp1 T C 12: 31,928,618 N510S probably damaging Het
Lrguk T C 6: 34,073,797 S397P possibly damaging Het
Mmrn1 A T 6: 60,976,586 D617V probably damaging Het
Mroh9 C G 1: 163,060,760 G249R probably damaging Het
N6amt1 A G 16: 87,354,353 D34G probably damaging Het
Nktr A T 9: 121,727,346 D30V probably damaging Het
Olfr1151 A T 2: 87,857,696 I174F probably damaging Het
Olfr598 T A 7: 103,329,050 M188K probably damaging Het
Olfr805 T A 10: 129,722,945 I200L probably benign Het
Pabpc1 A G 15: 36,600,625 F314L probably damaging Het
Papln G A 12: 83,774,571 V226M probably damaging Het
Parp12 A T 6: 39,102,612 D321E probably damaging Het
Plch2 T A 4: 154,984,534 T1107S probably benign Het
Psma2 T C 13: 14,625,217 L182P probably damaging Het
Rcl1 A G 19: 29,128,001 Y196C probably benign Het
Rdh16 G A 10: 127,801,267 V24M probably damaging Het
Rpe65 A G 3: 159,604,404 T105A possibly damaging Het
Serpini1 T C 3: 75,640,294 I371T probably damaging Het
Tet2 T C 3: 133,485,913 N920S probably benign Het
Tmprss11f T A 5: 86,556,978 D27V possibly damaging Het
Zxdc T A 6: 90,373,800 I411N 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
R5736:Tmem71 UTSW 15 66532647 missense probably benign 0.04
R6684:Tmem71 UTSW 15 66541690 missense possibly damaging 0.74
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 2016-07-22