Mutagenetix > Incidental Mutation

Incidental Mutation 'R2099:Treh'

233247

Institutional Source

Beutler Lab

Gene Symbol

Treh

Ensembl Gene

ENSMUSG00000032098

Gene Name

trehalase (brush-border membrane glycoprotein)

Synonyms

2210412M19Rik

MMRRC Submission

040103-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.214) question?

Stock #

R2099 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

44584530-44597602 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 44595943 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 376 (Y376C)

Ref Sequence

ENSEMBL: ENSMUSP00000071206 (fasta)

Gene Model

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

AlphaFold

Q9JLT2

Predicted Effect

probably damaging
Transcript: ENSMUST00000034609
AA Change: Y411C

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

SMART Domains

Protein: ENSMUSP00000034609
Gene: ENSMUSG00000032098
AA Change: Y411C

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: Y376C

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

SMART Domains

Protein: ENSMUSP00000071206
Gene: ENSMUSG00000032098
AA Change: Y376C

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

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: 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: 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: 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: 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: 99.2%
3x: 98.6%
10x: 97.5%
20x: 95.7%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars2	G	A	17: 45,817,820 (GRCm39)	R14Q	unknown	Het
Aga	C	A	8: 53,974,166 (GRCm39)	Y286*	probably null	Het
Anks1	T	C	17: 28,197,465 (GRCm39)		probably null	Het
Arih2	A	T	9: 108,493,937 (GRCm39)	F159I	probably damaging	Het
Asxl1	A	T	2: 153,194,187 (GRCm39)	M46L	possibly damaging	Het
Atp23	G	T	10: 126,727,595 (GRCm39)		probably null	Het
Carmil1	T	A	13: 24,357,650 (GRCm39)	L66F	probably benign	Het
Chd9	C	T	8: 91,760,615 (GRCm39)	P2120L	probably benign	Het
Cramp1	A	G	17: 25,192,059 (GRCm39)	V1027A	probably benign	Het
Cx3cr1	G	A	9: 119,881,339 (GRCm39)	A21V	probably benign	Het
Dcxr	A	G	11: 120,616,403 (GRCm39)	F221S	probably damaging	Het
Dio2	T	C	12: 90,696,597 (GRCm39)	*130W	probably null	Het
Dnah2	T	C	11: 69,384,063 (GRCm39)	D1051G	probably damaging	Het
Ehbp1l1	T	C	19: 5,768,429 (GRCm39)	E958G	possibly damaging	Het
Eif3a	C	A	19: 60,752,551 (GRCm39)		probably benign	Het
Ephb2	T	C	4: 136,388,066 (GRCm39)	D678G	probably damaging	Het
Fpr3	G	T	17: 18,191,443 (GRCm39)	R238L	probably damaging	Het
Frem3	A	G	8: 81,342,488 (GRCm39)	S1594G	probably benign	Het
Gbp4	A	C	5: 105,268,947 (GRCm39)	L402W	probably damaging	Het
Gdpd5	T	A	7: 99,097,696 (GRCm39)	L164Q	probably damaging	Het
Il4i1	T	C	7: 44,487,616 (GRCm39)		probably null	Het
Kcp	G	T	6: 29,496,164 (GRCm39)	C723*	probably null	Het
Klhl18	A	G	9: 110,284,486 (GRCm39)	F2L	probably damaging	Het
Lepr	T	A	4: 101,630,185 (GRCm39)	D633E	probably damaging	Het
Lifr	A	G	15: 7,186,732 (GRCm39)	I79V	probably benign	Het
Mcrs1	A	G	15: 99,147,827 (GRCm39)	S27P	probably benign	Het
Mmp3	A	G	9: 7,453,672 (GRCm39)	D431G	probably benign	Het
Mtor	T	A	4: 148,634,649 (GRCm39)	Y2423*	probably null	Het
Ndc80	A	T	17: 71,811,773 (GRCm39)	D484E	probably benign	Het
Ndufb8	T	A	19: 44,543,749 (GRCm39)		probably benign	Het
Nmur2	A	T	11: 55,931,589 (GRCm39)	S41T	probably benign	Het
Notch2	T	C	3: 98,022,637 (GRCm39)	C819R	possibly damaging	Het
Or10d3	A	G	9: 39,461,963 (GRCm39)	V68A	probably benign	Het
Or4f7	A	G	2: 111,644,177 (GRCm39)	I298T	probably benign	Het
Or6c35	A	T	10: 129,169,152 (GRCm39)	N134I	probably damaging	Het
Pheta1	C	T	5: 121,991,349 (GRCm39)	P237L	possibly damaging	Het
Phip	T	C	9: 82,797,392 (GRCm39)	H537R	possibly damaging	Het
Samd7	T	C	3: 30,810,709 (GRCm39)	V242A	probably benign	Het
Sde2	T	C	1: 180,693,713 (GRCm39)	L401P	probably damaging	Het
Slc20a1	A	G	2: 129,049,758 (GRCm39)	D340G	probably benign	Het
Slc2a5	T	A	4: 150,227,634 (GRCm39)	Y484*	probably null	Het
Spata31d1a	A	G	13: 59,853,885 (GRCm39)	L27P	probably damaging	Het
Sqstm1	T	C	11: 50,093,811 (GRCm39)	T269A	possibly damaging	Het
Syne2	T	C	12: 76,026,747 (GRCm39)	V3525A	probably benign	Het
Tctn1	G	A	5: 122,380,772 (GRCm39)	P512L	probably damaging	Het
Tlr1	A	G	5: 65,082,411 (GRCm39)	F722S	probably damaging	Het
Trim47	T	C	11: 115,997,170 (GRCm39)	N529S	probably damaging	Het
Trrap	T	C	5: 144,719,049 (GRCm39)	V184A	possibly damaging	Het
Tyrp1	T	A	4: 80,753,616 (GRCm39)	N102K	possibly damaging	Het
Uspl1	T	A	5: 149,151,568 (GRCm39)	S724T	probably damaging	Het
Vmn2r2	C	A	3: 64,024,474 (GRCm39)	K702N	probably damaging	Het
Zfp267	C	T	3: 36,218,361 (GRCm39)	T128I	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
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

Predicted Primers

PCR Primer
(F):5'- CCTGCTGAGACTAAAGGCAG -3'
(R):5'- ACATTGATGTGACTGTGAGCG -3'

Sequencing Primer
(F):5'- TGCTGAGACTAAAGGCAGAACCAC -3'
(R):5'- TCAGGGAAGGCAGGTCTGTC -3'

Posted On

2014-09-18