Incidental Mutation 'R7445:Tmem72'
ID 577222
Institutional Source Beutler Lab
Gene Symbol Tmem72
Ensembl Gene ENSMUSG00000048108
Gene Name transmembrane protein 72
MMRRC Submission 045521-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.162) question?
Stock # R7445 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 116679063-116716913 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116698330 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 67 (I67T)
Ref Sequence ENSEMBL: ENSMUSP00000057942 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056623] [ENSMUST00000129255]
AlphaFold Q8C3K5
Predicted Effect probably benign
Transcript: ENSMUST00000056623
AA Change: I67T

PolyPhen 2 Score 0.047 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000057942
Gene: ENSMUSG00000048108
AA Change: I67T

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
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.2%
Validation Efficiency 100% (67/67)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 63,898,619 (GRCm38) S233T probably damaging Het
1700034E13Rik T A 18: 52,660,481 (GRCm38) C29S probably damaging Het
1700061G19Rik G A 17: 56,882,973 (GRCm38) R333Q possibly damaging Het
9130409I23Rik A G 1: 181,055,012 (GRCm38) N113S possibly damaging Het
Ank3 A G 10: 69,992,124 (GRCm38) T2208A Het
Ap4s1 T C 12: 51,738,641 (GRCm38) L132P probably damaging Het
Ascl4 C T 10: 85,928,500 (GRCm38) R4C probably benign Het
Brd7 A T 8: 88,361,708 (GRCm38) Y18N probably damaging Het
Cacna2d3 A G 14: 29,058,618 (GRCm38) S648P possibly damaging Het
Camta1 C T 4: 151,144,291 (GRCm38) E695K possibly damaging Het
Ccdc28b A G 4: 129,622,607 (GRCm38) F53L probably benign Het
Chaf1a A G 17: 56,062,170 (GRCm38) D467G possibly damaging Het
Cnnm1 G A 19: 43,440,821 (GRCm38) R126H possibly damaging Het
Cog5 T G 12: 31,919,672 (GRCm38) S730R possibly damaging Het
Col11a1 A T 3: 114,193,929 (GRCm38) E1374D unknown Het
Csmd1 A G 8: 16,158,254 (GRCm38) I1229T possibly damaging Het
Dnajc30 T C 5: 135,064,378 (GRCm38) L43P probably damaging Het
Eif3f C T 7: 108,934,658 (GRCm38) T76M unknown Het
Ermap G A 4: 119,188,710 (GRCm38) T42I unknown Het
Gpd1l C T 9: 114,920,674 (GRCm38) G25S probably damaging Het
Heatr1 G T 13: 12,431,038 (GRCm38) W1632L possibly damaging Het
Ice1 T C 13: 70,596,167 (GRCm38) D29G Het
Ipo8 T C 6: 148,789,817 (GRCm38) D685G probably benign Het
Klra10 T C 6: 130,275,856 (GRCm38) T152A probably benign Het
Lmntd1 T A 6: 145,429,967 (GRCm38) S82C probably damaging Het
Maip1 T C 1: 57,407,031 (GRCm38) S87P possibly damaging Het
Mapkapk2 A G 1: 131,097,519 (GRCm38) S3P unknown Het
Mei4 A G 9: 81,890,239 (GRCm38) Y35C possibly damaging Het
Ms4a14 T G 19: 11,302,972 (GRCm38) K741Q probably benign Het
Naip2 A C 13: 100,161,782 (GRCm38) I582S probably benign Het
Ncapg2 A G 12: 116,419,268 (GRCm38) I240V possibly damaging Het
Ncbp1 T A 4: 46,149,914 (GRCm38) M145K probably damaging Het
Nmur2 A G 11: 56,032,940 (GRCm38) F263L probably damaging Het
Ntrk2 A G 13: 58,846,762 (GRCm38) E164G probably benign Het
Olfr48 T A 2: 89,844,272 (GRCm38) T234S probably damaging Het
Olfr705 A G 7: 106,873,342 (GRCm38) L301S possibly damaging Het
Olfr785 A T 10: 129,409,885 (GRCm38) D173V probably benign Het
P3h2 T A 16: 25,985,065 (GRCm38) Y317F probably damaging Het
Pcmtd1 C T 1: 7,120,420 (GRCm38) R38C probably damaging Het
Pcyox1 T C 6: 86,391,679 (GRCm38) T286A possibly damaging Het
Pdxk T C 10: 78,447,967 (GRCm38) D131G probably benign Het
Ppl T C 16: 5,089,068 (GRCm38) D1121G probably damaging Het
Prkra T C 2: 76,633,598 (GRCm38) D240G probably benign Het
Ptgs1 C A 2: 36,245,210 (GRCm38) N395K probably benign Het
Ptprq A T 10: 107,590,959 (GRCm38) Y1572N probably damaging Het
Pyroxd1 A T 6: 142,358,501 (GRCm38) H326L probably benign Het
Rapgef5 A G 12: 117,755,969 (GRCm38) D778G probably benign Het
Rbm46 T A 3: 82,864,210 (GRCm38) E366V probably damaging Het
Rnd1 G T 15: 98,670,669 (GRCm38) H209Q probably benign Het
Rnf122 A T 8: 31,118,500 (GRCm38) D32V possibly damaging Het
Samd4b G A 7: 28,406,456 (GRCm38) P446S probably benign Het
Slco1a5 C A 6: 142,259,008 (GRCm38) A187S possibly damaging Het
Smarca4 G A 9: 21,686,247 (GRCm38) V1436M probably damaging Het
Smok2a G A 17: 13,226,639 (GRCm38) G368R possibly damaging Het
Smok3c T A 5: 138,064,495 (GRCm38) H81Q probably damaging Het
Soga3 T C 10: 29,197,003 (GRCm38) S764P possibly damaging Het
Stk16 T C 1: 75,213,652 (GRCm38) V245A probably damaging Het
Svep1 A T 4: 58,094,122 (GRCm38) N1505K possibly damaging Het
Tigd4 G A 3: 84,595,164 (GRCm38) A463T probably benign Het
Tmem117 T C 15: 94,714,918 (GRCm38) F112L probably benign Het
Tnik A G 3: 28,663,909 (GRCm38) probably null Het
Trav14-2 A G 14: 53,641,058 (GRCm38) Q66R probably damaging Het
Trpv6 T A 6: 41,621,342 (GRCm38) D677V probably damaging Het
Vgll4 C T 6: 114,862,196 (GRCm38) S278N unknown Het
Wdfy4 C T 14: 33,070,618 (GRCm38) W2157* probably null Het
Other mutations in Tmem72
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02744:Tmem72 APN 6 116,695,490 (GRCm38) missense probably damaging 1.00
R1998:Tmem72 UTSW 6 116,716,564 (GRCm38) missense probably benign 0.00
R2022:Tmem72 UTSW 6 116,696,839 (GRCm38) missense probably damaging 1.00
R2911:Tmem72 UTSW 6 116,698,331 (GRCm38) missense possibly damaging 0.93
R4750:Tmem72 UTSW 6 116,695,434 (GRCm38) missense probably damaging 0.97
R4833:Tmem72 UTSW 6 116,698,358 (GRCm38) missense probably benign
R5129:Tmem72 UTSW 6 116,702,013 (GRCm38) missense probably damaging 0.99
R6702:Tmem72 UTSW 6 116,698,349 (GRCm38) missense probably benign 0.02
R7976:Tmem72 UTSW 6 116,696,839 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer

Sequencing Primer
Posted On 2019-10-07