Incidental Mutation 'IGL02744:Tmem72'
ID306024
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem72
Ensembl Gene ENSMUSG00000048108
Gene Nametransmembrane protein 72
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.407) question?
Stock #IGL02744
Quality Score
Status
Chromosome6
Chromosomal Location116679063-116716913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116695490 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 130 (L130P)
Ref Sequence ENSEMBL: ENSMUSP00000057942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056623] [ENSMUST00000129255]
Predicted Effect probably damaging
Transcript: ENSMUST00000056623
AA Change: L130P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000057942
Gene: ENSMUSG00000048108
AA Change: L130P

DomainStartEndE-ValueType
Pfam:TMEM72 2 189 2.8e-84 PFAM
low complexity region 241 255 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000129255
SMART Domains Protein: ENSMUSP00000122220
Gene: ENSMUSG00000048108

DomainStartEndE-ValueType
transmembrane domain 12 34 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transmembrane protein which may be expressed specifically in the kidney. [provided by RefSeq, Sep 2016]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930564D02Rik A G 3: 105,078,536 M89V unknown Het
Actl11 C A 9: 107,929,862 H461Q probably benign Het
Aox4 A T 1: 58,255,552 R973S possibly damaging Het
Arhgef10 C T 8: 14,930,198 A146V probably benign Het
Cep350 A T 1: 155,931,533 S713T probably damaging Het
Doxl2 A G 6: 48,975,315 E58G probably benign Het
Epha5 T C 5: 84,107,989 I458V probably benign Het
Galnt17 A G 5: 131,111,775 I168T probably damaging Het
Gli3 T C 13: 15,613,886 probably null Het
Gm11110 T A 17: 57,092,693 probably benign Het
Gm8206 T C 14: 6,022,488 I4V possibly damaging Het
Gm8906 C T 5: 11,505,373 T103I possibly damaging Het
Golga1 A G 2: 39,018,474 S713P probably damaging Het
Ing5 T C 1: 93,816,488 M172T probably damaging Het
Lyn A G 4: 3,738,808 T27A probably benign Het
Olfr1367 A G 13: 21,346,994 Y22C probably damaging Het
Pou5f1 T C 17: 35,509,414 V40A probably damaging Het
Pramef12 A T 4: 144,392,923 L358Q probably damaging Het
Prdm16 A G 4: 154,345,453 L353P probably damaging Het
Psg18 T A 7: 18,349,402 Q276L probably benign Het
Ralgapb A C 2: 158,446,151 Q369H probably damaging Het
Slc44a4 A G 17: 34,927,800 N300D probably damaging Het
Slc6a15 A T 10: 103,418,033 E610V probably benign Het
Slc8a2 T C 7: 16,145,029 V480A possibly damaging Het
Spg7 T C 8: 123,093,661 F617S probably damaging Het
Srcap A G 7: 127,534,666 D863G probably damaging Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Suox T C 10: 128,671,217 E314G probably benign Het
Tln2 T A 9: 67,229,376 K1276* probably null Het
Ttll1 T C 15: 83,489,577 Y345C probably benign Het
Ush2a A T 1: 188,358,717 probably null Het
Xpo6 G A 7: 126,108,448 probably benign Het
Zc3h14 A T 12: 98,784,975 Y512F possibly damaging Het
Zfp438 A T 18: 5,214,760 M66K probably benign Het
Other mutations in Tmem72
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1998:Tmem72 UTSW 6 116716564 missense probably benign 0.00
R2022:Tmem72 UTSW 6 116696839 missense probably damaging 1.00
R2911:Tmem72 UTSW 6 116698331 missense possibly damaging 0.93
R4750:Tmem72 UTSW 6 116695434 missense probably damaging 0.97
R4833:Tmem72 UTSW 6 116698358 missense probably benign
R5129:Tmem72 UTSW 6 116702013 missense probably damaging 0.99
R6702:Tmem72 UTSW 6 116698349 missense probably benign 0.02
Posted On2015-04-16