Incidental Mutation 'IGL02573:Tmem37'
ID299114
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Tmem37
Ensembl Gene ENSMUSG00000050777
Gene Nametransmembrane protein 37
SynonymsPr1
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02573
Quality Score
Status
Chromosome1
Chromosomal Location120067377-120074074 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 120067989 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 119 (D119E)
Ref Sequence ENSEMBL: ENSMUSP00000050862 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056089] [ENSMUST00000072886] [ENSMUST00000189037]
Predicted Effect probably damaging
Transcript: ENSMUST00000056089
AA Change: D119E

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000050862
Gene: ENSMUSG00000050777
AA Change: D119E

DomainStartEndE-ValueType
Pfam:TMEM37 7 189 4.1e-97 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000072886
SMART Domains Protein: ENSMUSP00000072660
Gene: ENSMUSG00000026387

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 53 N/A INTRINSIC
HormR 76 146 5.18e-21 SMART
Pfam:7tm_2 153 398 3.8e-88 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000189037
SMART Domains Protein: ENSMUSP00000139932
Gene: ENSMUSG00000026387

DomainStartEndE-ValueType
signal peptide 1 28 N/A INTRINSIC
low complexity region 36 53 N/A INTRINSIC
HormR 61 131 2.59e-21 SMART
Pfam:7tm_2 138 383 1.9e-89 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Angptl3 T A 4: 99,037,934 W434R probably damaging Het
Atp7b T C 8: 22,022,470 Q344R probably benign Het
B4galt5 C T 2: 167,305,062 R284Q probably benign Het
Ccdc80 T G 16: 45,095,589 V236G probably damaging Het
Chd8 T C 14: 52,219,734 I926V possibly damaging Het
Dgkz A C 2: 91,934,197 S1030R probably damaging Het
Disp3 T A 4: 148,271,449 D318V probably damaging Het
Ehd1 T C 19: 6,294,300 S197P probably damaging Het
Emp1 A G 6: 135,379,947 K42R probably benign Het
Fam71a G A 1: 191,163,870 T192I probably damaging Het
Gm4922 T A 10: 18,783,675 D433V probably benign Het
Gsdma T C 11: 98,670,751 probably benign Het
Hspbp1 G T 7: 4,677,853 A208E probably damaging Het
Il5ra A T 6: 106,716,751 V342E possibly damaging Het
Kif13b T C 14: 64,803,431 F1660S probably damaging Het
Lvrn A G 18: 46,876,949 E388G probably damaging Het
Mettl17 G A 14: 51,888,047 probably null Het
Mgat5b T C 11: 116,977,714 Y488H probably benign Het
Mtr A T 13: 12,199,127 D886E possibly damaging Het
Naip6 A T 13: 100,299,471 L848* probably null Het
Nav3 A G 10: 109,866,974 S233P probably benign Het
Nme9 A T 9: 99,470,855 D286V probably benign Het
Nod1 C A 6: 54,943,945 A463S probably benign Het
Nthl1 A G 17: 24,633,975 K51R probably benign Het
Olfr354 A G 2: 36,907,554 I203V probably damaging Het
Olfr427 T A 1: 174,100,130 V224D possibly damaging Het
Pcnx2 G A 8: 125,855,273 A908V probably benign Het
Pdcd6 A G 13: 74,303,979 Y181H probably damaging Het
Pde10a A C 17: 8,961,890 I719L probably benign Het
Pikfyve T A 1: 65,230,855 probably null Het
Plekha5 G T 6: 140,582,016 A396S probably damaging Het
Ppfia2 A G 10: 106,828,928 T342A probably damaging Het
Rbck1 A G 2: 152,322,167 I339T possibly damaging Het
Rbms2 A T 10: 128,143,440 I140N probably damaging Het
Scn1b A T 7: 31,123,121 L78Q possibly damaging Het
Slc12a6 T C 2: 112,358,641 probably null Het
Slc25a30 A T 14: 75,769,668 probably benign Het
Slc30a7 C T 3: 115,990,147 probably benign Het
Slc5a10 C A 11: 61,673,072 R546L possibly damaging Het
Stxbp4 T C 11: 90,540,269 D405G probably damaging Het
Tm4sf19 A C 16: 32,407,860 T156P possibly damaging Het
Tor1aip1 T A 1: 156,013,371 N113I probably damaging Het
Ubac2 T A 14: 121,907,390 Y87N possibly damaging Het
Usp29 A T 7: 6,962,618 probably null Het
Wdr92 T C 11: 17,212,136 L58P possibly damaging Het
Zfp276 A G 8: 123,264,997 E428G probably damaging Het
Other mutations in Tmem37
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1864:Tmem37 UTSW 1 120068222 missense probably damaging 1.00
R1865:Tmem37 UTSW 1 120068222 missense probably damaging 1.00
R4632:Tmem37 UTSW 1 120068249 missense probably damaging 1.00
R4715:Tmem37 UTSW 1 120068205 missense probably damaging 1.00
U24488:Tmem37 UTSW 1 120067954 missense probably benign 0.00
Z1177:Tmem37 UTSW 1 120068028 missense not run
Posted On2015-04-16