Mutagenetix > Incidental Mutation

Incidental Mutation 'R4715:Treh'

353956

Institutional Source

Beutler Lab

Gene Symbol

Treh

Ensembl Gene

ENSMUSG00000032098

Gene Name

trehalase (brush-border membrane glycoprotein)

Synonyms

2210412M19Rik

MMRRC Submission

041982-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.183) question?

Stock #

R4715 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

44584530-44597602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 44594615 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 8 (V8A)

Ref Sequence

ENSEMBL: ENSMUSP00000123144 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000034609] [ENSMUST00000034611] [ENSMUST00000071219] [ENSMUST00000134465] [ENSMUST00000135436] [ENSMUST00000150822] [ENSMUST00000156918] [ENSMUST00000144251] [ENSMUST00000139389] [ENSMUST00000138356] [ENSMUST00000147495]

AlphaFold

Q9JLT2

Predicted Effect

probably benign
Transcript: ENSMUST00000034609
AA Change: V264A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: V264A

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: V229A

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: V229A

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: ENSMUST00000150822
AA Change: V8A

PolyPhen 2 Score 0.435 (Sensitivity: 0.89; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098
AA Change: V8A

Domain	Start	End	E-Value	Type
Pfam:Trehalase	1	121	3.1e-32	PFAM

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: 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: 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: 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: 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

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.0%

Validation Efficiency

92% (86/93)

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: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc2	A	C	19: 43,805,321 (GRCm39)	E725A	possibly damaging	Het
Abcc5	G	T	16: 20,217,626 (GRCm39)	L362I	probably damaging	Het
Ammecr1l	C	T	18: 31,907,706 (GRCm39)	R179*	probably null	Het
Arap2	G	T	5: 62,906,437 (GRCm39)	T194K	probably benign	Het
Atf2	C	A	2: 73,653,644 (GRCm39)	V282F	probably damaging	Het
Atosa	T	A	9: 74,920,250 (GRCm39)	W799R	probably damaging	Het
Atp1a1	T	C	3: 101,499,122 (GRCm39)	E159G	possibly damaging	Het
B4galt2	T	C	4: 117,734,376 (GRCm39)	S258G	possibly damaging	Het
Bptf	G	T	11: 106,938,007 (GRCm39)	H2695N	probably damaging	Het
Casq2	T	C	3: 102,017,560 (GRCm39)	V80A	probably benign	Het
Cdc42ep3	G	A	17: 79,642,887 (GRCm39)	A11V	probably benign	Het
Cdh4	A	T	2: 179,422,260 (GRCm39)	H128L	probably benign	Het
Cdk5rap1	C	A	2: 154,203,755 (GRCm39)	*191L	probably null	Het
Cfdp1	G	A	8: 112,557,523 (GRCm39)	T206I	probably benign	Het
Cgn	C	A	3: 94,686,748 (GRCm39)	G185W	probably damaging	Het
Clpx	A	C	9: 65,219,396 (GRCm39)	R231S	possibly damaging	Het
Copg1	T	A	6: 87,889,268 (GRCm39)	L870*	probably null	Het
Cyp4a10	A	T	4: 115,382,535 (GRCm39)	D275V	probably benign	Het
Dip2a	T	C	10: 76,132,240 (GRCm39)	T504A	probably benign	Het
Dmxl2	A	C	9: 54,353,689 (GRCm39)		probably null	Het
Dnaaf5	A	T	5: 139,163,755 (GRCm39)	I671F	probably damaging	Het
Dnah14	A	G	1: 181,584,788 (GRCm39)	D3173G	probably damaging	Het
Dock2	T	C	11: 34,244,118 (GRCm39)	Y1074C	probably damaging	Het
Dthd1	A	C	5: 63,045,530 (GRCm39)	M765L	probably benign	Het
E2f3	A	C	13: 30,095,258 (GRCm39)	C220W	probably damaging	Het
Elf3	C	T	1: 135,185,490 (GRCm39)	S8N	probably damaging	Het
F2rl1	A	T	13: 95,649,775 (GRCm39)	V369E	probably damaging	Het
Fpr-rs7	C	T	17: 20,333,690 (GRCm39)	G267R	probably benign	Het
Ggact	A	T	14: 123,129,047 (GRCm39)	L56Q	possibly damaging	Het
Gm5546	T	C	3: 104,273,824 (GRCm39)		noncoding transcript	Het
Gm8267	A	G	14: 44,955,292 (GRCm39)	V243A	probably benign	Het
Gtf2h1	A	G	7: 46,464,836 (GRCm39)	T424A	possibly damaging	Het
Gucy1b2	A	G	14: 62,660,466 (GRCm39)	V140A	possibly damaging	Het
Htatip2	T	C	7: 49,420,592 (GRCm39)	L146P	probably damaging	Het
Htr1b	T	C	9: 81,513,563 (GRCm39)	D348G	possibly damaging	Het
Ifi205	T	C	1: 173,855,887 (GRCm39)	I48V	possibly damaging	Het
Igkv18-36	C	T	6: 69,969,575 (GRCm39)	R72K	probably damaging	Het
Kcnk7	T	C	19: 5,756,281 (GRCm39)	L169P	probably damaging	Het
Klf17	T	C	4: 117,617,733 (GRCm39)	D208G	probably benign	Het
Ltn1	A	G	16: 87,215,382 (GRCm39)	F418L	probably damaging	Het
Map4k4	G	A	1: 40,058,724 (GRCm39)	V1040I	probably damaging	Het
Mark1	A	G	1: 184,644,329 (GRCm39)	V445A	probably benign	Het
Med11	T	C	11: 70,344,022 (GRCm39)	I114T	probably benign	Het
Moxd2	A	G	6: 40,864,181 (GRCm39)	V83A	probably damaging	Het
Mrpl33	A	G	5: 31,773,702 (GRCm39)		probably benign	Het
Mrps27	A	G	13: 99,551,323 (GRCm39)		probably null	Het
Nop58	T	C	1: 59,735,185 (GRCm39)	V75A	probably benign	Het
Or13p5	T	C	4: 118,591,852 (GRCm39)	L42P	probably damaging	Het
Or2n1d	A	C	17: 38,646,731 (GRCm39)	I228L	possibly damaging	Het
Or2t46	A	G	11: 58,472,255 (GRCm39)	D195G	probably damaging	Het
Or4k42	A	C	2: 111,320,089 (GRCm39)	M138R	probably benign	Het
Or7g19	A	G	9: 18,856,742 (GRCm39)	H266R	probably benign	Het
Or7g26	C	A	9: 19,230,443 (GRCm39)	F210L	probably benign	Het
Pdzd2	G	T	15: 12,419,602 (GRCm39)	N263K	possibly damaging	Het
Podnl1	C	A	8: 84,852,690 (GRCm39)		probably benign	Het
Prkd3	G	T	17: 79,259,366 (GRCm39)	H864N	possibly damaging	Het
Ptprd	T	C	4: 76,025,570 (GRCm39)	T543A	probably benign	Het
Pum2	T	A	12: 8,797,272 (GRCm39)	I788N	probably damaging	Het
Ralgapa1	T	A	12: 55,740,243 (GRCm39)	N1328I	probably damaging	Het
Rhoc	T	C	3: 104,701,355 (GRCm39)	L193P	probably damaging	Het
Rif1	T	C	2: 51,963,151 (GRCm39)		probably benign	Het
Rspo2	A	T	15: 42,939,300 (GRCm39)	C163*	probably null	Het
Sco1	A	G	11: 66,947,425 (GRCm39)	Y204C	probably damaging	Het
Shc2	T	C	10: 79,458,213 (GRCm39)	K490R	probably benign	Het
Siglec1	T	C	2: 130,916,356 (GRCm39)	D1198G	probably damaging	Het
Slc25a18	T	C	6: 120,763,051 (GRCm39)	V31A	probably damaging	Het
Smpd5	A	T	15: 76,179,893 (GRCm39)	I112L	probably benign	Het
Synpr	CT	C	14: 13,285,198 (GRCm38)		probably null	Het
Tdrd9	T	G	12: 112,008,123 (GRCm39)	S988A	probably benign	Het
Tiam2	T	A	17: 3,504,443 (GRCm39)	F982I	probably damaging	Het
Tmc3	G	A	7: 83,271,604 (GRCm39)	V919I	probably benign	Het
Tmed2b	A	T	9: 33,639,784 (GRCm39)		noncoding transcript	Het
Tmem200c	A	T	17: 69,147,465 (GRCm39)	D16V	probably damaging	Het
Tmem37	A	T	1: 119,995,935 (GRCm39)	D47E	probably damaging	Het
Top3a	T	A	11: 60,633,823 (GRCm39)	R733*	probably null	Het
Trim17	A	C	11: 58,859,276 (GRCm39)		probably benign	Het
Ubash3b	T	C	9: 40,927,896 (GRCm39)	K471E	probably damaging	Het
Usp8	T	A	2: 126,571,142 (GRCm39)	L144Q	possibly damaging	Het
Wnk2	T	A	13: 49,300,708 (GRCm39)	M1L	unknown	Het
Yju2b	A	G	8: 84,990,503 (GRCm39)	I43T	probably 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
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
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'- AAGGATGTCGCCTTCCTTC -3'
(R):5'- AACATTGGGAGGTGCTAAGCC -3'

Sequencing Primer
(F):5'- GATGTCGCCTTCCTTCAGTGG -3'
(R):5'- GTCATCTTGACTCAAAAGGTACCCTG -3'

Posted On

2015-10-21