Incidental Mutation 'R3936:Treh'
ID |
307174 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Treh
|
Ensembl Gene |
ENSMUSG00000032098 |
Gene Name |
trehalase (brush-border membrane glycoprotein) |
Synonyms |
2210412M19Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.183)
|
Stock # |
R3936 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
44584530-44597602 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 44595840 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 342
(R342W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000071206
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000034609]
[ENSMUST00000034611]
[ENSMUST00000071219]
[ENSMUST00000134465]
[ENSMUST00000135436]
[ENSMUST00000156918]
[ENSMUST00000150822]
[ENSMUST00000144251]
[ENSMUST00000138356]
[ENSMUST00000147495]
[ENSMUST00000139389]
|
AlphaFold |
Q9JLT2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000034609
AA Change: R377W
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000034609 Gene: ENSMUSG00000032098 AA Change: R377W
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: R342W
PolyPhen 2
Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
|
SMART Domains |
Protein: ENSMUSP00000071206 Gene: ENSMUSG00000032098 AA Change: R342W
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: 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: 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: 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: 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: 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 |
|
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: 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 |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.3%
|
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: 30 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Akap6 |
C |
T |
12: 53,187,227 (GRCm39) |
T1547M |
possibly damaging |
Het |
Alk |
T |
A |
17: 72,512,949 (GRCm39) |
I337F |
probably damaging |
Het |
Ank3 |
A |
T |
10: 69,715,819 (GRCm39) |
K491* |
probably null |
Het |
Arx |
T |
A |
X: 92,340,975 (GRCm39) |
L554Q |
probably damaging |
Het |
Axdnd1 |
T |
C |
1: 156,159,209 (GRCm39) |
N203S |
probably benign |
Het |
Baz2b |
A |
G |
2: 59,743,105 (GRCm39) |
V1622A |
possibly damaging |
Het |
Btnl6 |
T |
A |
17: 34,736,316 (GRCm39) |
H4L |
probably benign |
Het |
Dync2h1 |
C |
A |
9: 7,001,482 (GRCm39) |
L3835F |
probably damaging |
Het |
Fcgbp |
T |
C |
7: 27,774,824 (GRCm39) |
F133L |
probably benign |
Het |
Fnip1 |
A |
G |
11: 54,371,065 (GRCm39) |
|
probably null |
Het |
G6pc1 |
A |
G |
11: 101,265,429 (GRCm39) |
I154V |
probably benign |
Het |
Golgb1 |
G |
T |
16: 36,734,418 (GRCm39) |
E1222* |
probably null |
Het |
Gpr85 |
A |
G |
6: 13,836,044 (GRCm39) |
F287L |
probably benign |
Het |
Gzmk |
A |
T |
13: 113,309,559 (GRCm39) |
S164T |
probably damaging |
Het |
Il22ra2 |
T |
A |
10: 19,507,456 (GRCm39) |
S156R |
probably benign |
Het |
Kansl1 |
A |
T |
11: 104,234,369 (GRCm39) |
D712E |
possibly damaging |
Het |
Mc3r |
T |
A |
2: 172,091,216 (GRCm39) |
I146N |
probably damaging |
Het |
Mcm2 |
G |
A |
6: 88,869,990 (GRCm39) |
R60C |
probably damaging |
Het |
Mitf |
C |
T |
6: 97,970,214 (GRCm39) |
P54S |
probably damaging |
Het |
Or13c7b |
T |
A |
4: 43,821,359 (GRCm39) |
M1L |
probably benign |
Het |
P4hb |
A |
C |
11: 120,453,235 (GRCm39) |
H440Q |
probably benign |
Het |
Pbsn |
T |
C |
X: 76,891,702 (GRCm39) |
T32A |
probably damaging |
Het |
Rptn |
A |
C |
3: 93,302,883 (GRCm39) |
H72P |
possibly damaging |
Het |
Scn1a |
T |
C |
2: 66,158,120 (GRCm39) |
I418V |
probably damaging |
Het |
Sf3a1 |
T |
A |
11: 4,130,024 (GRCm39) |
|
probably null |
Het |
Slc35f1 |
C |
T |
10: 52,984,314 (GRCm39) |
T358I |
probably damaging |
Het |
Slc9c1 |
A |
G |
16: 45,427,193 (GRCm39) |
|
probably benign |
Het |
Sorcs3 |
T |
A |
19: 48,701,943 (GRCm39) |
V608D |
probably damaging |
Het |
Sult2b1 |
C |
T |
7: 45,391,640 (GRCm39) |
V49M |
probably benign |
Het |
Tlr11 |
A |
G |
14: 50,600,192 (GRCm39) |
E726G |
possibly damaging |
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 |
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 |
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'- GGATGTTAGTTCAAGGAGCCATG -3'
(R):5'- TACTTCAGAGCCTTGTCAGC -3'
Sequencing Primer
(F):5'- GCCATGAATTCTAGTGGGCAC -3'
(R):5'- TTGTCAGCAACACTAGGGTC -3'
|
Posted On |
2015-04-17 |