Incidental Mutation 'IGL03242:Treh'
ID 414890
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Treh
Ensembl Gene ENSMUSG00000032098
Gene Name trehalase (brush-border membrane glycoprotein)
Synonyms 2210412M19Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.214) question?
Stock # IGL03242
Quality Score
Status
Chromosome 9
Chromosomal Location 44584530-44597602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 44596634 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 463 (T463A)
Ref Sequence ENSEMBL: ENSMUSP00000071206 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034609] [ENSMUST00000034611] [ENSMUST00000071219] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000150822] [ENSMUST00000139389] [ENSMUST00000138356] [ENSMUST00000147495] [ENSMUST00000156918] [ENSMUST00000144251]
AlphaFold Q9JLT2
Predicted Effect probably benign
Transcript: ENSMUST00000034609
AA Change: T498A

PolyPhen 2 Score 0.423 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: T498A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 43 548 2.3e-185 PFAM
low complexity region 565 575 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000034611
SMART Domains Protein: ENSMUSP00000034611
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5.01e-5 PROSPERO
internal_repeat_1 401 449 5.01e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1366 1.31e-17 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000071219
AA Change: T463A

PolyPhen 2 Score 0.507 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: T463A

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 134 513 7e-145 PFAM
low complexity region 530 540 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128326
SMART Domains Protein: ENSMUSP00000119966
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 1 12 N/A INTRINSIC
low complexity region 83 110 N/A INTRINSIC
low complexity region 187 200 N/A INTRINSIC
coiled coil region 207 290 N/A INTRINSIC
low complexity region 312 322 N/A INTRINSIC
coiled coil region 357 396 N/A INTRINSIC
low complexity region 422 443 N/A INTRINSIC
low complexity region 493 506 N/A INTRINSIC
low complexity region 516 530 N/A INTRINSIC
low complexity region 564 572 N/A INTRINSIC
coiled coil region 610 679 N/A INTRINSIC
PH 723 827 1.31e-17 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000129806
Predicted Effect probably benign
Transcript: ENSMUST00000134465
SMART Domains Protein: ENSMUSP00000117395
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 3e-10 PDB
Blast:FHA 63 110 8e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 6.75e-5 PROSPERO
internal_repeat_1 401 449 6.75e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 929 950 N/A INTRINSIC
low complexity region 1008 1022 N/A INTRINSIC
low complexity region 1056 1064 N/A INTRINSIC
coiled coil region 1103 1172 N/A INTRINSIC
PH 1215 1319 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000135436
SMART Domains Protein: ENSMUSP00000120023
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 67 85 N/A INTRINSIC
low complexity region 100 121 N/A INTRINSIC
low complexity region 179 193 N/A INTRINSIC
low complexity region 227 235 N/A INTRINSIC
coiled coil region 274 343 N/A INTRINSIC
PH 386 490 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000150822
SMART Domains Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098

DomainStartEndE-ValueType
Pfam:Trehalase 1 121 3.1e-32 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000139389
SMART Domains Protein: ENSMUSP00000120671
Gene: ENSMUSG00000032098

DomainStartEndE-ValueType
signal peptide 1 20 N/A INTRINSIC
Pfam:Trehalase 43 141 1.3e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138356
SMART Domains Protein: ENSMUSP00000120208
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 4.93e-5 PROSPERO
internal_repeat_1 401 449 4.93e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 931 948 N/A INTRINSIC
low complexity region 999 1017 N/A INTRINSIC
low complexity region 1032 1053 N/A INTRINSIC
low complexity region 1111 1125 N/A INTRINSIC
low complexity region 1159 1167 N/A INTRINSIC
coiled coil region 1206 1286 N/A INTRINSIC
PH 1329 1444 6.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000147495
SMART Domains Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
PDB:2EH0|A 40 139 4e-10 PDB
Blast:FHA 63 110 6e-21 BLAST
low complexity region 181 192 N/A INTRINSIC
low complexity region 252 273 N/A INTRINSIC
low complexity region 296 316 N/A INTRINSIC
internal_repeat_1 321 354 5e-5 PROSPERO
internal_repeat_1 401 449 5e-5 PROSPERO
low complexity region 459 477 N/A INTRINSIC
low complexity region 590 617 N/A INTRINSIC
low complexity region 694 707 N/A INTRINSIC
coiled coil region 715 798 N/A INTRINSIC
low complexity region 819 829 N/A INTRINSIC
coiled coil region 865 904 N/A INTRINSIC
low complexity region 943 961 N/A INTRINSIC
low complexity region 976 997 N/A INTRINSIC
low complexity region 1055 1069 N/A INTRINSIC
low complexity region 1103 1111 N/A INTRINSIC
coiled coil region 1150 1219 N/A INTRINSIC
PH 1262 1377 6.01e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000148344
SMART Domains Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 4 19 N/A INTRINSIC
low complexity region 41 61 N/A INTRINSIC
internal_repeat_1 66 99 6.7e-6 PROSPERO
internal_repeat_1 146 194 6.7e-6 PROSPERO
low complexity region 204 222 N/A INTRINSIC
low complexity region 335 362 N/A INTRINSIC
low complexity region 439 452 N/A INTRINSIC
coiled coil region 459 542 N/A INTRINSIC
low complexity region 564 574 N/A INTRINSIC
coiled coil region 609 648 N/A INTRINSIC
low complexity region 688 706 N/A INTRINSIC
low complexity region 721 742 N/A INTRINSIC
low complexity region 792 805 N/A INTRINSIC
low complexity region 815 829 N/A INTRINSIC
low complexity region 863 871 N/A INTRINSIC
coiled coil region 909 978 N/A INTRINSIC
PH 1022 1126 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156918
SMART Domains Protein: ENSMUSP00000120092
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
low complexity region 136 146 N/A INTRINSIC
coiled coil region 182 221 N/A INTRINSIC
low complexity region 246 267 N/A INTRINSIC
low complexity region 325 339 N/A INTRINSIC
low complexity region 373 381 N/A INTRINSIC
coiled coil region 420 489 N/A INTRINSIC
PH 532 636 1.31e-17 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000144251
SMART Domains Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
coiled coil region 32 115 N/A INTRINSIC
coiled coil region 146 174 N/A INTRINSIC
low complexity region 179 189 N/A INTRINSIC
coiled coil region 225 264 N/A INTRINSIC
low complexity region 289 310 N/A INTRINSIC
low complexity region 368 382 N/A INTRINSIC
low complexity region 416 424 N/A INTRINSIC
coiled coil region 463 532 N/A INTRINSIC
PH 575 679 1.31e-17 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: This gene belongs to the alpha-glucosidase family, whose members encode enzymes that carry out hydrolysis of alpha-glucoside bonds of a variety of carbohydrates. The enzyme encoded by this gene uses the disaccharide trehalose as a highly specific substrate and converts it into two glucose molecules. Alternative splicing of this gene results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Apr 2013]
PHENOTYPE: Mice homozygous for a knock-out allele fail to exhibit a rapid increase in blood glucose levels following oral trehalose administration. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930562C15Rik T C 16: 4,667,189 (GRCm39) W221R unknown Het
Ank2 A G 3: 126,722,454 (GRCm39) F1000L possibly damaging Het
Aoc1l2 T C 6: 48,909,479 (GRCm39) F575L possibly damaging Het
Bahcc1 T C 11: 120,159,126 (GRCm39) probably benign Het
BC024139 T C 15: 76,004,520 (GRCm39) M679V probably benign Het
Carmil2 A G 8: 106,417,952 (GRCm39) probably benign Het
Catsperg2 A G 7: 29,424,904 (GRCm39) probably benign Het
Chrnb4 A T 9: 54,942,812 (GRCm39) I154K probably damaging Het
Clec2e A C 6: 129,071,989 (GRCm39) L130W probably damaging Het
Coro2b G T 9: 62,336,243 (GRCm39) Y281* probably null Het
Dlk2 A G 17: 46,613,903 (GRCm39) Y386C probably benign Het
Dnah7a A T 1: 53,659,882 (GRCm39) F709I probably benign Het
Efcab3 A C 11: 104,997,230 (GRCm39) E140A probably damaging Het
Exoc1 T C 5: 76,706,854 (GRCm39) L467P probably damaging Het
Fkbp2 A G 19: 6,955,980 (GRCm39) V75A probably benign Het
Glud1 T C 14: 34,056,237 (GRCm39) F304L probably benign Het
Gsr T A 8: 34,175,627 (GRCm39) V291E probably benign Het
Itprid2 C T 2: 79,473,815 (GRCm39) R189* probably null Het
Kap A G 6: 133,828,763 (GRCm39) probably benign Het
Kmt2a G T 9: 44,759,689 (GRCm39) T720N probably damaging Het
Lrrtm4 T C 6: 79,999,071 (GRCm39) I161T probably benign Het
Lyst T A 13: 13,831,466 (GRCm39) L1630* probably null Het
Med13l A G 5: 118,885,510 (GRCm39) S1488G probably benign Het
Mlxip A G 5: 123,578,124 (GRCm39) K147E probably damaging Het
Nalcn T C 14: 123,558,899 (GRCm39) E810G possibly damaging Het
Or2d4 A G 7: 106,544,125 (GRCm39) F28L possibly damaging Het
Or56a5 G A 7: 104,793,473 (GRCm39) S15F probably benign Het
Or5p54 T C 7: 107,554,688 (GRCm39) V280A possibly damaging Het
Pcare A G 17: 72,057,266 (GRCm39) S804P probably benign Het
Piezo2 T C 18: 63,144,609 (GRCm39) probably benign Het
Scgb2b7 A T 7: 31,404,506 (GRCm39) C65S probably damaging Het
Serpina3j G A 12: 104,285,960 (GRCm39) A372T possibly damaging Het
Slc28a3 G A 13: 58,722,063 (GRCm39) Q274* probably null Het
Stk36 T C 1: 74,662,511 (GRCm39) F543S possibly damaging Het
Tfrc T C 16: 32,448,930 (GRCm39) S690P probably damaging Het
Tg C A 15: 66,555,647 (GRCm39) Q780K probably damaging Het
Top1 T A 2: 160,557,653 (GRCm39) H578Q probably damaging Het
Treml1 G A 17: 48,673,016 (GRCm39) probably benign Het
Trpm2 A G 10: 77,753,568 (GRCm39) V1312A probably benign Het
Ttc41 T A 10: 86,612,683 (GRCm39) *1319K probably null Het
Tulp2 A G 7: 45,171,282 (GRCm39) I354M probably damaging Het
Ugt2b35 T C 5: 87,155,254 (GRCm39) L363P probably damaging Het
Usp13 A T 3: 32,956,218 (GRCm39) M496L probably benign Het
Virma T C 4: 11,527,669 (GRCm39) S1187P possibly damaging Het
Wdr76 T A 2: 121,372,951 (GRCm39) C593S probably damaging Het
Zfp446 G A 7: 12,713,252 (GRCm39) A97T probably damaging Het
Other mutations in Treh
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00493:Treh APN 9 44,595,197 (GRCm39) missense probably damaging 1.00
IGL00984:Treh APN 9 44,594,264 (GRCm39) unclassified probably benign
IGL02111:Treh APN 9 44,594,258 (GRCm39) missense probably benign 0.02
IGL02493:Treh APN 9 44,594,246 (GRCm39) missense possibly damaging 0.92
IGL03392:Treh APN 9 44,597,228 (GRCm39) missense probably damaging 0.96
delight UTSW 9 44,592,823 (GRCm39) missense probably damaging 1.00
trixie UTSW 9 44,594,910 (GRCm39) missense probably benign 0.27
R0041:Treh UTSW 9 44,594,910 (GRCm39) missense probably benign 0.27
R1391:Treh UTSW 9 44,596,602 (GRCm39) missense probably benign 0.02
R2099:Treh UTSW 9 44,595,943 (GRCm39) missense probably damaging 1.00
R2142:Treh UTSW 9 44,592,438 (GRCm39) missense probably damaging 1.00
R3936:Treh UTSW 9 44,595,840 (GRCm39) missense probably benign 0.02
R4577:Treh UTSW 9 44,597,208 (GRCm39) missense probably benign 0.11
R4715:Treh UTSW 9 44,594,615 (GRCm39) missense probably benign 0.44
R4735:Treh UTSW 9 44,592,849 (GRCm39) missense probably damaging 1.00
R4964:Treh UTSW 9 44,593,945 (GRCm39) missense probably damaging 0.99
R5028:Treh UTSW 9 44,594,186 (GRCm39) missense probably null 0.96
R5214:Treh UTSW 9 44,594,173 (GRCm39) missense probably damaging 1.00
R5645:Treh UTSW 9 44,593,975 (GRCm39) missense probably damaging 0.99
R7311:Treh UTSW 9 44,597,245 (GRCm39) missense probably benign
R7892:Treh UTSW 9 44,596,015 (GRCm39) missense probably damaging 1.00
R7944:Treh UTSW 9 44,592,584 (GRCm39) missense probably damaging 1.00
R7945:Treh UTSW 9 44,592,584 (GRCm39) missense probably damaging 1.00
R8338:Treh UTSW 9 44,595,808 (GRCm39) missense probably benign 0.27
R8818:Treh UTSW 9 44,592,823 (GRCm39) missense probably damaging 1.00
R8884:Treh UTSW 9 44,595,800 (GRCm39) unclassified probably benign
R9041:Treh UTSW 9 44,596,677 (GRCm39) missense probably damaging 1.00
R9311:Treh UTSW 9 44,592,655 (GRCm39) missense probably benign 0.39
R9489:Treh UTSW 9 44,592,416 (GRCm39) missense probably damaging 1.00
R9605:Treh UTSW 9 44,592,416 (GRCm39) missense probably damaging 1.00
R9701:Treh UTSW 9 44,594,648 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02