Incidental Mutation 'IGL02744:Tmem72'
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem72
Ensembl Gene ENSMUSG00000048108
Gene Nametransmembrane protein 72
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.104) question?
Stock #IGL02744
Quality Score
Chromosomal Location116679063-116716913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116695490 bp
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

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

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
R7445:Tmem72 UTSW 6 116698330 missense probably benign 0.05
Posted On2015-04-16