Mutagenetix > Incidental Mutation

Incidental Mutation 'R9701:Treh'

729580

Institutional Source

Beutler Lab

Gene Symbol

Treh

Ensembl Gene

ENSMUSG00000032098

Gene Name

trehalase (brush-border membrane glycoprotein)

Synonyms

2210412M19Rik

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9701 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

44584530-44597602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44594648 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 275 (Y275C)

Ref Sequence

ENSEMBL: ENSMUSP00000034609 (fasta)

Gene Model

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

AlphaFold

Q9JLT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034609
AA Change: Y275C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: Y275C

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 damaging
Transcript: ENSMUST00000071219
AA Change: Y240C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: Y240C

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

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: 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: 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: 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: 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 damaging
Transcript: ENSMUST00000150822
AA Change: Y19C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098
AA Change: Y19C

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	T	C	7: 45,786,054 (GRCm39)	D673G	probably benign	Het
Alg8	T	A	7: 97,027,486 (GRCm39)	V118E	possibly damaging	Het
Ap4e1	T	C	2: 126,875,563 (GRCm39)	V218A	probably benign	Het
Armc12	A	T	17: 28,751,375 (GRCm39)	D123V	probably damaging	Het
Bltp3b	G	A	10: 89,615,755 (GRCm39)	V133I	probably benign	Het
Bms1	T	A	6: 118,368,147 (GRCm39)	K1039I	probably damaging	Het
Col4a2	A	G	8: 11,493,104 (GRCm39)	N1299S	probably benign	Het
Cux1	T	C	5: 136,343,169 (GRCm39)	D405G	probably damaging	Het
Cwf19l2	A	T	9: 3,430,454 (GRCm39)	Q262L	probably damaging	Het
Dclk3	A	G	9: 111,298,244 (GRCm39)	D596G	probably damaging	Het
Dnah7a	A	T	1: 53,561,388 (GRCm39)	C2090S	probably benign	Het
Dock7	T	C	4: 98,846,384 (GRCm39)	D1749G	unknown	Het
Dock9	A	T	14: 121,876,983 (GRCm39)	C463S	probably benign	Het
Dyrk1b	G	A	7: 27,885,838 (GRCm39)	R548Q	probably damaging	Het
Egr1	T	C	18: 34,995,674 (GRCm39)	F152S	probably damaging	Het
Eln	C	A	5: 134,744,559 (GRCm39)	A479S	unknown	Het
Gm973	T	A	1: 59,566,032 (GRCm39)	W84R	possibly damaging	Het
Gnpat	A	G	8: 125,613,678 (GRCm39)	K642E	probably benign	Het
Gpr180	G	A	14: 118,391,302 (GRCm39)	G235R	probably damaging	Het
Gpx6	A	T	13: 21,501,777 (GRCm39)	Q133L	probably benign	Het
Gzmn	T	C	14: 56,405,310 (GRCm39)	Y58C	probably benign	Het
Hcfc2	G	T	10: 82,574,269 (GRCm39)	G148*	probably null	Het
Hspa5	C	T	2: 34,664,649 (GRCm39)	R368*	probably null	Het
Igkv3-10	T	C	6: 70,550,001 (GRCm39)	V49A	probably damaging	Het
Inpp5f	A	C	7: 128,278,515 (GRCm39)	D435A	possibly damaging	Het
Jmjd1c	A	T	10: 67,060,745 (GRCm39)	I852F	possibly damaging	Het
Lhx5	T	A	5: 120,572,663 (GRCm39)	V94E	possibly damaging	Het
Map1s	C	T	8: 71,369,712 (GRCm39)	T928I	possibly damaging	Het
Mib1	T	A	18: 10,798,494 (GRCm39)	L785H	probably damaging	Het
Mrgpra6	C	T	7: 46,835,533 (GRCm39)	R296K	probably benign	Het
Mrpl9	A	G	3: 94,351,892 (GRCm39)		probably null	Het
Mutyh	A	G	4: 116,676,485 (GRCm39)	S486G	probably benign	Het
Naa15	T	A	3: 51,349,370 (GRCm39)	Y96*	probably null	Het
Nlrp1a	T	C	11: 70,987,946 (GRCm39)	S1175G	probably benign	Het
Nup153	A	T	13: 46,840,211 (GRCm39)	D1132E	probably benign	Het
Nxf1	G	A	19: 8,739,772 (GRCm39)	G42D	probably damaging	Het
Or13j1	C	A	4: 43,705,793 (GRCm39)	M258I	probably benign	Het
Plekhg6	C	T	6: 125,347,602 (GRCm39)	V451I	probably benign	Het
Prkab1	T	C	5: 116,162,274 (GRCm39)	E12G	probably benign	Het
Ptprd	A	G	4: 75,916,896 (GRCm39)	Y752H	probably damaging	Het
Rbm12	A	G	2: 155,938,166 (GRCm39)	I702T	probably benign	Het
Rnf212	A	G	5: 108,922,738 (GRCm39)		probably null	Het
Sall3	C	A	18: 81,017,443 (GRCm39)	A162S	probably benign	Het
Sec24d	T	C	3: 123,063,321 (GRCm39)	S13P	probably damaging	Het
Serpina16	T	C	12: 103,638,873 (GRCm39)	Q238R	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Skint3	T	A	4: 112,111,094 (GRCm39)	V73E	probably damaging	Het
Slc6a20a	T	A	9: 123,489,585 (GRCm39)	T153S	probably damaging	Het
Slc6a6	T	C	6: 91,700,478 (GRCm39)	Y69H	probably damaging	Het
Sorl1	A	G	9: 42,003,766 (GRCm39)	Y177H	probably damaging	Het
Srbd1	T	C	17: 86,433,559 (GRCm39)	Y346C	probably damaging	Het
Syne2	A	G	12: 76,037,197 (GRCm39)	E3792G	probably damaging	Het
Tg	C	G	15: 66,637,991 (GRCm39)	T2268S	probably benign	Het
Thbs1	A	G	2: 117,950,716 (GRCm39)	N721S	probably benign	Het
Trpv5	G	T	6: 41,651,594 (GRCm39)	H195N	possibly damaging	Het
Tshz1	A	G	18: 84,032,579 (GRCm39)	S610P	possibly damaging	Het
Ttll4	A	G	1: 74,720,482 (GRCm39)	N499S	probably benign	Het
Ttn	G	T	2: 76,748,927 (GRCm39)	H4041N	probably benign	Het
Ubtf	A	G	11: 102,199,718 (GRCm39)		probably null	Het
Urod	C	T	4: 116,849,778 (GRCm39)	V207M	probably damaging	Het
Vegfa	G	A	17: 46,342,713 (GRCm39)	P35L	probably damaging	Het
Zc3h7b	C	T	15: 81,676,505 (GRCm39)	P749L	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
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

Predicted Primers

PCR Primer
(F):5'- CAAGGATGTCGCCTTCCTTC -3'
(R):5'- AACATTGGGAGGTGCTAAGCC -3'

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

Posted On

2022-10-06