Incidental Mutation 'R1391:Treh'
| ID |
162611 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Treh
|
| Ensembl Gene |
ENSMUSG00000032098 |
| Gene Name |
trehalase (brush-border membrane glycoprotein) |
| Synonyms |
2210412M19Rik |
| MMRRC Submission |
039453-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.183)
|
| Stock # |
R1391 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
44584530-44597602 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 44596602 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 452
(V452A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000071206
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034609]
[ENSMUST00000034611]
[ENSMUST00000071219]
[ENSMUST00000134465]
[ENSMUST00000135436]
[ENSMUST00000139389]
[ENSMUST00000138356]
[ENSMUST00000144251]
[ENSMUST00000150822]
[ENSMUST00000156918]
[ENSMUST00000147495]
|
| AlphaFold |
Q9JLT2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000034609
AA Change: V487A
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: V487A
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
probably benign
Transcript: ENSMUST00000071219
AA Change: V452A
PolyPhen 2
Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
|
| SMART Domains |
Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: V452A
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000139389
|
| SMART Domains |
Protein: ENSMUSP00000120671
Gene: ENSMUSG00000032098
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000144251
|
| SMART Domains |
Protein: ENSMUSP00000114773
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000150822
|
| SMART Domains |
Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Trehalase
|
1 |
121 |
3.1e-32 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000148344
|
| SMART Domains |
Protein: ENSMUSP00000121809
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
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
| Domain | Start | End | E-Value | Type |
|---|
|
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: ENSMUST00000147495
|
| SMART Domains |
Protein: ENSMUSP00000122661
Gene: ENSMUSG00000048537
| Domain | Start | End | E-Value | Type |
|---|
|
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 |
|
| Coding Region Coverage |
- 1x: 98.8%
- 3x: 97.7%
- 10x: 94.4%
- 20x: 86.3%
|
| 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: 20 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Amer3 |
A |
T |
1: 34,627,470 (GRCm39) |
T570S |
probably benign |
Het |
| Ank3 |
A |
T |
10: 69,370,110 (GRCm39) |
K20I |
possibly damaging |
Het |
| Bmp10 |
G |
A |
6: 87,410,740 (GRCm39) |
E178K |
probably benign |
Het |
| Brca1 |
T |
A |
11: 101,417,372 (GRCm39) |
H254L |
possibly damaging |
Het |
| Cdon |
C |
T |
9: 35,415,485 (GRCm39) |
S1241L |
possibly damaging |
Het |
| Cnst |
C |
A |
1: 179,407,051 (GRCm39) |
P33T |
possibly damaging |
Het |
| Dnhd1 |
A |
G |
7: 105,369,331 (GRCm39) |
Y4318C |
probably damaging |
Het |
| Farp1 |
G |
A |
14: 121,495,378 (GRCm39) |
W611* |
probably null |
Het |
| Fst |
C |
T |
13: 114,590,815 (GRCm39) |
|
probably benign |
Het |
| Gapvd1 |
A |
G |
2: 34,596,814 (GRCm39) |
L714P |
probably damaging |
Het |
| Hectd4 |
T |
G |
5: 121,491,758 (GRCm39) |
L3732R |
possibly damaging |
Het |
| Lox |
A |
G |
18: 52,661,891 (GRCm39) |
Y171H |
probably damaging |
Het |
| Magi3 |
T |
A |
3: 103,922,374 (GRCm39) |
K1448* |
probably null |
Het |
| Med12l |
T |
A |
3: 58,945,159 (GRCm39) |
I128N |
probably benign |
Het |
| Pkd1l2 |
T |
C |
8: 117,781,673 (GRCm39) |
T791A |
possibly damaging |
Het |
| Prrt4 |
A |
G |
6: 29,169,950 (GRCm39) |
V834A |
possibly damaging |
Het |
| Ptprz1 |
A |
G |
6: 23,001,728 (GRCm39) |
S1273G |
probably benign |
Het |
| Slc13a4 |
A |
C |
6: 35,248,597 (GRCm39) |
F517V |
probably damaging |
Het |
| Vmn2r83 |
T |
A |
10: 79,314,931 (GRCm39) |
M393K |
probably damaging |
Het |
| Zfp931 |
T |
C |
2: 177,709,984 (GRCm39) |
N134S |
probably benign |
Het |
|
| Other mutations in Treh |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH 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 |
|
IGL03242:Treh
|
APN |
9 |
44,596,634 (GRCm39) |
missense |
possibly damaging |
0.51 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CATGGGGTCCACAGGTTCAGAAAG -3'
(R):5'- GCCACTGAAGCAAAAGATGTGCC -3'
Sequencing Primer
(F):5'- TTCAGAAAGGAGATCTGAGGGC -3'
(R):5'- GTCGCACTGTACCAGTTTG -3'
|
| Posted On |
2014-03-17 |
Incidental Mutation