Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01128:Mttp'

50771

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mttp

Ensembl Gene

ENSMUSG00000028158

Gene Name

microsomal triglyceride transfer protein

Synonyms

1810043K16Rik, MTP

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

IGL01128

Quality Score

Status

Chromosome

Chromosomal Location

137795616-137849179 bp(-) (GRCm39)

Type of Mutation

splice site (3 bp from exon)

DNA Base Change (assembly)

T to A at 137839758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000096179 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000029805] [ENSMUST00000098580]

AlphaFold

O08601

Predicted Effect

probably benign
Transcript: ENSMUST00000029805

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
LPD_N	28	579	8.87e-165	SMART
Blast:LPD_N	582	695	4e-58	BLAST

Predicted Effect

probably null
Transcript: ENSMUST00000098580

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158

Domain	Start	End	E-Value	Type
signal peptide	1	32	N/A	INTRINSIC
LPD_N	43	594	8.87e-165	SMART
Blast:LPD_N	597	710	6e-58	BLAST

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MTP encodes the large subunit of the heterodimeric microsomal triglyceride transfer protein. Protein disulfide isomerase (PDI) completes the heterodimeric microsomal triglyceride transfer protein, which has been shown to play a central role in lipoprotein assembly. Mutations in MTP can cause abetalipoproteinemia. [provided by RefSeq, Jul 2008]
PHENOTYPE: Most embryos homozygous for a reporter allele die at midgestation displaying delayed growth, neurodevelopmental anomalies, impaired erythropoiesis, deficient yolk sac lipoprotein production, hemorrhage and necrosis. Heterozygous mutant mice display altered plasma lipid and lipoprotein profiles. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110038F14Rik	G	A	15: 76,834,475 (GRCm39)	V124I	probably damaging	Het
Adgrf5	G	T	17: 43,733,400 (GRCm39)	D75Y	possibly damaging	Het
Aen	G	A	7: 78,557,050 (GRCm39)	M299I	probably damaging	Het
Ahi1	A	G	10: 20,950,332 (GRCm39)	T128A	probably benign	Het
Bves	T	A	10: 45,229,944 (GRCm39)	F249L	probably damaging	Het
Capns1	T	C	7: 29,889,558 (GRCm39)	I214V	probably benign	Het
Cgnl1	G	T	9: 71,631,843 (GRCm39)	Q503K	possibly damaging	Het
Ep300	A	G	15: 81,514,207 (GRCm39)		probably benign	Het
Fam117b	T	A	1: 60,008,177 (GRCm39)	F337Y	probably damaging	Het
Fam178b	A	T	1: 36,683,435 (GRCm39)	V95E	probably damaging	Het
Gak	T	A	5: 108,740,236 (GRCm39)	M560L	probably damaging	Het
Gna11	C	A	10: 81,366,718 (GRCm39)	A331S	probably damaging	Het
Gtf3c3	A	C	1: 54,468,035 (GRCm39)	F201V	possibly damaging	Het
Kat6b	G	A	14: 21,710,928 (GRCm39)	R734H	probably benign	Het
Lag3	T	C	6: 124,886,380 (GRCm39)	D191G	probably damaging	Het
Nlgn3	A	T	X: 100,363,698 (GRCm39)	T790S	probably benign	Het
Or11g27	A	G	14: 50,771,406 (GRCm39)	D179G	probably damaging	Het
Or5b123	G	A	19: 13,597,110 (GRCm39)	E195K	probably damaging	Het
Pkd2l2	T	A	18: 34,550,068 (GRCm39)	Y238N	probably damaging	Het
Plg	A	T	17: 12,615,586 (GRCm39)		probably benign	Het
Ptprm	A	T	17: 67,349,096 (GRCm39)	C376S	probably damaging	Het
Rexo1	T	C	10: 80,385,573 (GRCm39)	D495G	probably benign	Het
Rims1	A	T	1: 22,573,256 (GRCm39)	V315D	probably damaging	Het
Ros1	G	A	10: 52,018,424 (GRCm39)	Q745*	probably null	Het
Satb1	A	G	17: 52,112,317 (GRCm39)	V99A	probably damaging	Het
Sema3e	C	T	5: 14,282,129 (GRCm39)	P422S	probably damaging	Het
Stkld1	G	T	2: 26,841,483 (GRCm39)	W476L	probably benign	Het
Syna	T	C	5: 134,588,334 (GRCm39)	D205G	probably damaging	Het
Tas2r134	G	T	2: 51,517,671 (GRCm39)	C50F	probably damaging	Het
Togaram1	A	G	12: 65,027,650 (GRCm39)	T880A	probably benign	Het
Uckl1	T	C	2: 181,212,130 (GRCm39)	E363G	probably damaging	Het
Yeats2	T	A	16: 19,980,718 (GRCm39)		probably benign	Het

Other mutations in Mttp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Mttp	APN	3	137,814,776 (GRCm39)	missense	possibly damaging	0.84
IGL00983:Mttp	APN	3	137,820,890 (GRCm39)	splice site	probably benign
IGL01607:Mttp	APN	3	137,810,459 (GRCm39)	missense	probably damaging	0.99
IGL01760:Mttp	APN	3	137,817,497 (GRCm39)	missense	probably benign	0.00
IGL01947:Mttp	APN	3	137,812,890 (GRCm39)	missense	probably damaging	1.00
IGL02184:Mttp	APN	3	137,821,761 (GRCm39)	critical splice donor site	probably null
IGL02932:Mttp	APN	3	137,817,505 (GRCm39)	missense	probably benign	0.07
IGL02957:Mttp	APN	3	137,814,842 (GRCm39)	missense	possibly damaging	0.95
IGL03082:Mttp	APN	3	137,829,556 (GRCm39)	missense	probably benign	0.01
IGL03302:Mttp	APN	3	137,810,468 (GRCm39)	missense	possibly damaging	0.90
IGL03381:Mttp	APN	3	137,810,704 (GRCm39)	missense	probably damaging	1.00
G1patch:Mttp	UTSW	3	137,812,999 (GRCm39)	missense	probably damaging	1.00
P0040:Mttp	UTSW	3	137,818,327 (GRCm39)	missense	possibly damaging	0.82
R0543:Mttp	UTSW	3	137,817,457 (GRCm39)	missense	possibly damaging	0.75
R0738:Mttp	UTSW	3	137,809,074 (GRCm39)	missense	probably damaging	1.00
R0967:Mttp	UTSW	3	137,798,484 (GRCm39)	missense	probably benign	0.00
R1281:Mttp	UTSW	3	137,812,980 (GRCm39)	missense	possibly damaging	0.95
R1565:Mttp	UTSW	3	137,822,166 (GRCm39)	critical splice donor site	probably null
R1660:Mttp	UTSW	3	137,808,954 (GRCm39)	missense	probably damaging	1.00
R1828:Mttp	UTSW	3	137,813,041 (GRCm39)	missense	probably damaging	1.00
R1886:Mttp	UTSW	3	137,798,376 (GRCm39)	missense	probably damaging	1.00
R1912:Mttp	UTSW	3	137,821,788 (GRCm39)	missense	probably benign	0.01
R1938:Mttp	UTSW	3	137,830,882 (GRCm39)	missense	probably benign	0.21
R2020:Mttp	UTSW	3	137,824,163 (GRCm39)	missense	probably damaging	0.98
R2109:Mttp	UTSW	3	137,800,763 (GRCm39)	missense	probably benign	0.27
R2336:Mttp	UTSW	3	137,821,856 (GRCm39)	missense	possibly damaging	0.81
R2392:Mttp	UTSW	3	137,800,782 (GRCm39)	missense	probably damaging	0.98
R3021:Mttp	UTSW	3	137,817,464 (GRCm39)	missense	probably benign
R3774:Mttp	UTSW	3	137,820,024 (GRCm39)	splice site	probably null
R3776:Mttp	UTSW	3	137,820,024 (GRCm39)	splice site	probably null
R4687:Mttp	UTSW	3	137,798,496 (GRCm39)	missense	possibly damaging	0.66
R4708:Mttp	UTSW	3	137,839,859 (GRCm39)	unclassified	probably benign
R4756:Mttp	UTSW	3	137,821,832 (GRCm39)	missense	possibly damaging	0.77
R4832:Mttp	UTSW	3	137,821,811 (GRCm39)	missense	probably benign
R5377:Mttp	UTSW	3	137,810,790 (GRCm39)	missense	probably benign	0.03
R5670:Mttp	UTSW	3	137,830,874 (GRCm39)	missense	probably damaging	0.99
R6613:Mttp	UTSW	3	137,814,839 (GRCm39)	missense	probably damaging	1.00
R6725:Mttp	UTSW	3	137,812,999 (GRCm39)	missense	probably damaging	1.00
R6799:Mttp	UTSW	3	137,800,841 (GRCm39)	missense	probably benign	0.04
R6920:Mttp	UTSW	3	137,821,043 (GRCm39)	missense	possibly damaging	0.49
R7074:Mttp	UTSW	3	137,813,034 (GRCm39)	missense	possibly damaging	0.53
R7131:Mttp	UTSW	3	137,821,893 (GRCm39)	missense	probably benign	0.13
R7275:Mttp	UTSW	3	137,829,546 (GRCm39)	missense	probably benign	0.19
R7291:Mttp	UTSW	3	137,796,964 (GRCm39)	missense	probably damaging	1.00
R7310:Mttp	UTSW	3	137,800,783 (GRCm39)	missense	probably damaging	1.00
R7769:Mttp	UTSW	3	137,808,873 (GRCm39)	missense	probably damaging	1.00
R7909:Mttp	UTSW	3	137,824,178 (GRCm39)	nonsense	probably null
R8037:Mttp	UTSW	3	137,796,883 (GRCm39)	missense	probably damaging	1.00
R8220:Mttp	UTSW	3	137,829,609 (GRCm39)	missense	probably benign	0.00
R8335:Mttp	UTSW	3	137,808,973 (GRCm39)	missense	possibly damaging	0.90
R8352:Mttp	UTSW	3	137,818,374 (GRCm39)	missense	probably damaging	1.00
R8452:Mttp	UTSW	3	137,818,374 (GRCm39)	missense	probably damaging	1.00
R8536:Mttp	UTSW	3	137,810,704 (GRCm39)	missense	probably damaging	1.00
R8677:Mttp	UTSW	3	137,810,437 (GRCm39)	missense	probably benign	0.00
R8877:Mttp	UTSW	3	137,818,317 (GRCm39)	missense	probably damaging	0.99
R9233:Mttp	UTSW	3	137,822,280 (GRCm39)	missense	probably damaging	1.00
R9237:Mttp	UTSW	3	137,810,444 (GRCm39)	missense	probably benign
R9427:Mttp	UTSW	3	137,820,962 (GRCm39)	missense	probably benign	0.01
R9749:Mttp	UTSW	3	137,830,989 (GRCm39)	missense	probably damaging	0.99
R9797:Mttp	UTSW	3	137,814,725 (GRCm39)	missense	probably damaging	0.96
Z1176:Mttp	UTSW	3	137,810,540 (GRCm39)	missense	probably benign

Posted On

2013-06-21