Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02493:Treh'

295717

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: 0.183) question?

Stock #

IGL02493

Quality Score

Status

Chromosome

Chromosomal Location

44584530-44597602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 44594246 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Valine at position 164 (D164V)

Ref Sequence

ENSEMBL: ENSMUSP00000071206 (fasta)

Gene Model

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

AlphaFold

Q9JLT2

Predicted Effect

probably benign
Transcript: ENSMUST00000034609
AA Change: D199V

PolyPhen 2 Score 0.315 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: D199V

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

possibly damaging
Transcript: ENSMUST00000071219
AA Change: D164V

PolyPhen 2 Score 0.922 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: D164V

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: 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: 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

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

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4933412E24Rik	T	G	15: 59,888,312 (GRCm39)	S43R	probably benign	Het
Afap1l1	G	T	18: 61,870,594 (GRCm39)	Q595K	possibly damaging	Het
Alpk2	T	C	18: 65,483,402 (GRCm39)	E202G	probably benign	Het
Ap3b1	T	C	13: 94,540,528 (GRCm39)	V150A	probably damaging	Het
Bcas3	T	C	11: 85,386,708 (GRCm39)	I381T	probably damaging	Het
Best3	A	T	10: 116,860,506 (GRCm39)	R589W	possibly damaging	Het
Birc6	A	G	17: 74,959,054 (GRCm39)		probably benign	Het
Clcn4	A	C	7: 7,287,243 (GRCm39)	D728E	probably damaging	Het
Commd2	C	A	3: 57,559,080 (GRCm39)		probably benign	Het
Csrp1	T	A	1: 135,678,801 (GRCm39)	F175L	probably damaging	Het
Eif3c	A	T	7: 126,158,073 (GRCm39)	N294K	probably damaging	Het
Fam184a	A	G	10: 53,570,789 (GRCm39)		probably null	Het
Fndc1	G	T	17: 7,994,377 (GRCm39)	P297Q	unknown	Het
Galnt13	A	G	2: 54,770,149 (GRCm39)	I314V	probably benign	Het
Gimap6	T	A	6: 48,679,603 (GRCm39)	K144N	probably damaging	Het
Gm10188	A	T	1: 132,157,143 (GRCm39)	C74*	probably null	Het
Gpatch2	C	T	1: 186,965,325 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,464,515 (GRCm39)	M39K	probably damaging	Het
Has2	G	T	15: 56,531,320 (GRCm39)	T465K	probably damaging	Het
Homer3	T	A	8: 70,742,721 (GRCm39)	V144D	probably benign	Het
Ift140	A	T	17: 25,306,898 (GRCm39)	K878*	probably null	Het
Ikbip	A	G	10: 90,932,456 (GRCm39)	N367D	probably damaging	Het
Immt	T	C	6: 71,821,700 (GRCm39)		probably benign	Het
Isca1	A	G	13: 59,910,596 (GRCm39)	V32A	possibly damaging	Het
Kcnu1	T	A	8: 26,427,548 (GRCm39)	N288K	possibly damaging	Het
Kmt2b	C	T	7: 30,268,936 (GRCm39)		probably benign	Het
Lrguk	T	A	6: 34,106,127 (GRCm39)	D717E	probably benign	Het
Lrp1	C	T	10: 127,417,647 (GRCm39)	G1037E	probably damaging	Het
Man2a2	T	A	7: 80,019,363 (GRCm39)	Q37L	possibly damaging	Het
Msh4	C	T	3: 153,583,545 (GRCm39)		probably null	Het
Mtf1	C	T	4: 124,715,112 (GRCm39)	R246W	probably damaging	Het
Mvb12b	A	G	2: 33,730,221 (GRCm39)	S57P	probably benign	Het
Nat8f5	A	G	6: 85,794,544 (GRCm39)	F139L	probably benign	Het
Npepps	A	G	11: 97,128,985 (GRCm39)	F400L	probably damaging	Het
Ntsr2	T	A	12: 16,708,390 (GRCm39)	S248T	possibly damaging	Het
Oplah	G	A	15: 76,185,155 (GRCm39)	R853*	probably null	Het
Or5b98	T	C	19: 12,931,138 (GRCm39)	F62L	probably benign	Het
Or5p57	A	T	7: 107,665,012 (GRCm39)	M331K	possibly damaging	Het
Plekhh2	G	A	17: 84,914,391 (GRCm39)		probably null	Het
Pskh1	G	A	8: 106,656,388 (GRCm39)	V355I	probably benign	Het
Rab31	A	T	17: 66,024,547 (GRCm39)	M44K	possibly damaging	Het
Slc5a4b	A	G	10: 75,910,849 (GRCm39)	V329A	probably damaging	Het
Slc5a7	A	G	17: 54,600,908 (GRCm39)	Y76H	probably damaging	Het
Trappc14	T	C	5: 138,261,432 (GRCm39)		probably null	Het
Trim6	A	G	7: 103,881,847 (GRCm39)	Y366C	probably benign	Het
Ubr7	T	C	12: 102,734,479 (GRCm39)	V251A	probably benign	Het
Vmn1r35	T	A	6: 66,656,463 (GRCm39)	N69I	possibly damaging	Het
Zan	A	G	5: 137,433,968 (GRCm39)	L2255P	unknown	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
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

2015-04-16