Incidental Mutation 'R2911:Tmem72'
ID261248
Institutional Source Beutler Lab
Gene Symbol Tmem72
Ensembl Gene ENSMUSG00000048108
Gene Nametransmembrane protein 72
Synonyms
MMRRC Submission 040498-MU
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.150) question?
Stock #R2911 (G1)
Quality Score225
Status Not validated
Chromosome6
Chromosomal Location116679063-116716913 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 116698331 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 67 (I67F)
Ref Sequence ENSEMBL: ENSMUSP00000057942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056623] [ENSMUST00000129255]
Predicted Effect possibly damaging
Transcript: ENSMUST00000056623
AA Change: I67F

PolyPhen 2 Score 0.928 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000057942
Gene: ENSMUSG00000048108
AA Change: I67F

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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.2%
  • 20x: 94.9%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2210407C18Rik G A 11: 58,608,426 Q189* probably null Het
Abcf3 A G 16: 20,560,232 T645A probably damaging Het
Adam10 C T 9: 70,718,723 S91L probably damaging Het
Ahnak A G 19: 9,011,654 D3434G probably damaging Het
Ankrd11 A T 8: 122,908,798 D32E probably damaging Het
Cacna1b A T 2: 24,607,541 probably null Het
Cd109 CATTTATTTATTTATTTATTTATTTATTTATTTAT CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT 9: 78,712,500 probably benign Het
Cep104 T A 4: 153,995,427 probably null Het
Clstn2 A G 9: 97,532,722 V373A probably damaging Het
Cyp2c65 T G 19: 39,087,682 I359M probably damaging Het
Cyp4a12b A T 4: 115,433,526 K282* probably null Het
Ddx1 C T 12: 13,231,440 probably null Het
Dnah7a A T 1: 53,427,824 probably null Het
Dzip1l T C 9: 99,655,602 V419A probably benign Het
Epha3 A C 16: 63,652,412 V370G probably benign Het
Fbxo38 T C 18: 62,519,807 D523G probably benign Het
Fryl T C 5: 73,050,456 D2457G probably damaging Het
Gm379 A C X: 108,664,765 F43V possibly damaging Het
Grhl3 T C 4: 135,559,146 I75V probably benign Het
Lcp2 G A 11: 34,068,970 probably null Het
Lipo3 T A 19: 33,579,367 I220F probably benign Het
Lrp1b T C 2: 41,506,692 E340G probably benign Het
Mbtps1 A G 8: 119,546,037 I123T possibly damaging Het
Ndc80 A T 17: 71,500,376 S528R probably benign Het
Odf2l A C 3: 145,124,323 I19L probably benign Het
Olfr193 C T 16: 59,110,181 R143H probably benign Het
Olfr873 A G 9: 20,300,479 K94R possibly damaging Het
Olfr958 T C 9: 39,550,821 I17V possibly damaging Het
Pigr A G 1: 130,849,533 D692G probably damaging Het
Reep2 T C 18: 34,845,690 probably null Het
Rin3 T G 12: 102,373,584 S598A probably benign Het
Rreb1 A T 13: 37,948,920 E1690D probably benign Het
Rubcnl C T 14: 75,040,808 T344I probably benign Het
Shcbp1l C A 1: 153,428,626 L144I probably damaging Het
Snx2 C T 18: 53,199,874 P207S probably damaging Het
Sox17 A T 1: 4,493,131 D92E probably damaging Het
Spata21 A G 4: 141,103,082 M288V possibly damaging Het
Sra1 T C 18: 36,676,185 D273G possibly damaging Het
Syt7 T C 19: 10,443,435 I448T probably benign Het
Tac1 A G 6: 7,559,097 probably null Het
Tgs1 C A 4: 3,585,616 N164K probably benign Het
Ythdc1 T C 5: 86,816,559 S88P possibly damaging Het
Other mutations in Tmem72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02744:Tmem72 APN 6 116695490 missense probably damaging 1.00
R1998:Tmem72 UTSW 6 116716564 missense probably benign 0.00
R2022:Tmem72 UTSW 6 116696839 missense probably damaging 1.00
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
Predicted Primers PCR Primer
(F):5'- AGCTCCGACTGGATTTGTCC -3'
(R):5'- CCAGTGTGTCGGTGAAGATG -3'

Sequencing Primer
(F):5'- ATGGAACTGTGCTGACCTCAG -3'
(R):5'- CGGTGAAGATGTCTGGGAATC -3'
Posted On2015-01-23