Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00493:Treh'

6178

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 #

IGL00493

Quality Score

Status

Chromosome

Chromosomal Location

44584530-44597602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44595197 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 89 (D89V)

Ref Sequence

ENSEMBL: ENSMUSP00000123144 (fasta)

Gene Model

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

AlphaFold

Q9JLT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034609
AA Change: D345V

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

SMART Domains

Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: D345V

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: D310V

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

SMART Domains

Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: D310V

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 damaging
Transcript: ENSMUST00000150822
AA Change: D89V

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

SMART Domains

Protein: ENSMUSP00000123144
Gene: ENSMUSG00000032098
AA Change: D89V

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

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: 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: 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: 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: 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

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adarb2	A	G	13: 8,751,761 (GRCm39)	T509A	probably benign	Het
Arhgap23	T	C	11: 97,337,379 (GRCm39)		probably null	Het
Astn1	A	T	1: 158,427,889 (GRCm39)	I687F	possibly damaging	Het
Atg4d	T	C	9: 21,178,217 (GRCm39)	F112L	probably damaging	Het
Bltp3b	A	C	10: 89,615,846 (GRCm39)	D163A	probably damaging	Het
Cd200	T	A	16: 45,217,409 (GRCm39)	D94V	probably damaging	Het
Cfap46	T	C	7: 139,194,359 (GRCm39)	K2285R	probably benign	Het
Clhc1	T	A	11: 29,521,745 (GRCm39)	I426N	probably damaging	Het
Cnnm2	T	A	19: 46,751,659 (GRCm39)	V483E	probably damaging	Het
Dennd2b	G	A	7: 109,126,915 (GRCm39)	A932V	possibly damaging	Het
Dlc1	A	T	8: 37,037,436 (GRCm39)		probably benign	Het
Fpgs	T	C	2: 32,578,009 (GRCm39)	I138V	possibly damaging	Het
Gpr152	T	C	19: 4,193,506 (GRCm39)	V349A	probably benign	Het
Hk1	C	A	10: 62,122,127 (GRCm39)	E523*	probably null	Het
Ift70a1	C	A	2: 75,812,085 (GRCm39)		probably benign	Het
Krt6a	T	G	15: 101,601,229 (GRCm39)	K241N	probably damaging	Het
Mcm3ap	A	G	10: 76,307,011 (GRCm39)	S375G	probably benign	Het
Meikin	C	T	11: 54,289,320 (GRCm39)	P231L	probably damaging	Het
Micall1	G	A	15: 78,999,221 (GRCm39)		probably benign	Het
Mvk	G	A	5: 114,583,502 (GRCm39)	V14I	probably benign	Het
Myo6	C	T	9: 80,199,754 (GRCm39)	S1021L	probably damaging	Het
N4bp2l2	G	A	5: 150,585,401 (GRCm39)	T193M	probably benign	Het
Naip5	G	T	13: 100,367,279 (GRCm39)	D272E	probably damaging	Het
Nptn	T	A	9: 58,550,922 (GRCm39)	N316K	probably damaging	Het
Pde6c	T	C	19: 38,151,324 (GRCm39)		probably benign	Het
Prg4	T	A	1: 150,327,671 (GRCm39)	I850L	probably damaging	Het
Rdm1	T	G	11: 101,526,580 (GRCm39)	C251G	possibly damaging	Het
Relch	A	G	1: 105,624,324 (GRCm39)		probably benign	Het
Rps6kl1	G	A	12: 85,186,157 (GRCm39)	P291L	probably benign	Het
Sel1l	A	G	12: 91,781,387 (GRCm39)		probably benign	Het
Serpinb1b	T	C	13: 33,277,850 (GRCm39)	F361S	probably damaging	Het
Sirpb1a	G	A	3: 15,475,788 (GRCm39)		probably benign	Het
Smpd1	T	G	7: 105,205,848 (GRCm39)	V405G	probably damaging	Het
Spmip11	T	C	15: 98,486,425 (GRCm39)		probably benign	Het
Tead3	T	C	17: 28,551,780 (GRCm39)	T438A	possibly damaging	Het
Trim10	A	T	17: 37,188,140 (GRCm39)	H452L	probably benign	Het
Ugt2b1	A	G	5: 87,073,817 (GRCm39)	C181R	probably benign	Het
Xdh	A	T	17: 74,230,101 (GRCm39)	F277I	possibly damaging	Het
Zswim4	T	G	8: 84,938,769 (GRCm39)	T1038P	probably damaging	Het

Other mutations in Treh

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
R9701:Treh	UTSW	9	44,594,648 (GRCm39)	missense	probably damaging	1.00

Posted On

2012-04-20