Incidental Mutation 'IGL02517:Tmem71'
ID296823
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem71
Ensembl Gene ENSMUSG00000036944
Gene Nametransmembrane protein 71
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.068) question?
Stock #IGL02517
Quality Score
Status
Chromosome15
Chromosomal Location66526212-66561103 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 66541617 bp
ZygosityHeterozygous
Amino Acid Change Valine to Glycine at position 202 (V202G)
Ref Sequence ENSEMBL: ENSMUSP00000044493 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000048372]
Predicted Effect probably benign
Transcript: ENSMUST00000048372
AA Change: V202G

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044493
Gene: ENSMUSG00000036944
AA Change: V202G

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
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438A13Rik A G 3: 36,958,868 E1899G probably damaging Het
Acnat2 T G 4: 49,380,647 M244L possibly damaging Het
Acnat2 A T 4: 49,380,639 C228* probably null Het
Adam24 T C 8: 40,680,179 S229P probably damaging Het
Alpk3 T C 7: 81,077,895 S258P probably benign Het
Atad2b A G 12: 5,018,037 T1012A probably benign Het
C4b A T 17: 34,734,408 S1034T probably benign Het
Cd300ld2 T A 11: 115,010,423 H277L possibly damaging Het
Chrna4 C T 2: 181,029,133 V277I probably benign Het
Col3a1 A G 1: 45,325,803 probably null Het
Dpep2 C T 8: 105,988,756 V369M probably damaging Het
Eml2 T A 7: 19,206,130 N815K probably damaging Het
Enpp3 A G 10: 24,809,848 probably benign Het
Git1 T C 11: 77,499,587 V86A probably benign Het
Hivep2 C T 10: 14,131,182 P1175S probably benign Het
Hydin T C 8: 110,566,972 I3517T probably benign Het
Ift172 T A 5: 31,253,648 probably null Het
Jmy A G 13: 93,452,808 I647T probably benign Het
Kifap3 T A 1: 163,825,871 probably benign Het
Lama3 G A 18: 12,537,858 probably null Het
Lipa A C 19: 34,494,122 I351S possibly damaging Het
Ltbp2 G T 12: 84,785,317 A1631D probably benign Het
Masp2 A G 4: 148,614,020 I519M probably damaging Het
Mfsd6 A G 1: 52,663,277 probably benign Het
Numa1 T G 7: 102,012,009 D1846E probably benign Het
Olfr12 A T 1: 92,620,461 Y185F probably benign Het
Olfr1440 A T 19: 12,394,901 I213F probably benign Het
Olfr745 A G 14: 50,643,201 T301A probably benign Het
Olfr918 T C 9: 38,672,913 Y177C probably damaging Het
Olfr968 T G 9: 39,772,504 T99P probably damaging Het
Oog3 A T 4: 144,159,350 I226K probably damaging Het
Pkdcc T C 17: 83,223,866 S435P probably damaging Het
Ppm1g A G 5: 31,208,081 Y70H probably damaging Het
Prcc C T 3: 87,869,677 S330N probably damaging Het
Ror2 A T 13: 53,118,840 L251Q probably damaging Het
Scn11a A G 9: 119,792,398 L651P probably damaging Het
Skint6 A T 4: 112,948,540 probably benign Het
Slc23a4 A G 6: 34,954,982 F186L probably benign Het
Slc30a8 A T 15: 52,335,134 D325V probably benign Het
Son C T 16: 91,655,211 T282M possibly damaging Het
Tas2r118 A T 6: 23,969,892 F57I probably damaging Het
Tcf7l1 A G 6: 72,629,983 S447P probably benign Het
Thsd1 T A 8: 22,243,438 V167E probably damaging Het
Tle3 T C 9: 61,414,781 V696A probably damaging Het
Tmem67 A T 4: 12,069,463 I405K possibly damaging Het
Trim6 T C 7: 104,232,357 probably benign Het
Trip12 A G 1: 84,743,814 probably benign Het
Ubr1 A C 2: 120,864,373 C1693G possibly damaging Het
Ush2a G A 1: 188,915,998 R4600H probably damaging Het
Vil1 A G 1: 74,426,692 I547M probably benign Het
Vmn1r219 A T 13: 23,163,096 I152L probably benign Het
Vmn1r26 A G 6: 58,009,142 F21L possibly damaging Het
Vmn2r45 T A 7: 8,483,186 K368* probably null Het
Vmn2r68 C T 7: 85,221,945 W710* probably null Het
Zfp808 T A 13: 62,173,218 *754R probably null Het
Zyg11b C T 4: 108,266,318 E151K probably damaging Het
Other mutations in Tmem71
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02183:Tmem71 APN 15 66555025 splice site 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
R6684:Tmem71 UTSW 15 66541690 missense possibly damaging 0.74
Posted On2015-04-16