Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01760:Mttp'

153234

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 #

IGL01760

Quality Score

Status

Chromosome

Chromosomal Location

137795616-137849179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 137817497 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 418 (S418P)

Ref Sequence

ENSEMBL: ENSMUSP00000029805 (fasta)

Gene Model

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

AlphaFold

O08601

Predicted Effect

probably benign
Transcript: ENSMUST00000029805
AA Change: S418P

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: S418P

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 benign
Transcript: ENSMUST00000098580
AA Change: S433P

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: S433P

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000196625

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: 28 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgre5	T	A	8: 84,458,586 (GRCm39)	T147S	probably benign	Het
Chst3	A	T	10: 60,022,292 (GRCm39)	V185D	probably damaging	Het
Col14a1	A	C	15: 55,286,855 (GRCm39)	D892A	unknown	Het
Dop1a	A	G	9: 86,401,976 (GRCm39)	T1059A	probably benign	Het
Eif1ad3	A	T	12: 87,843,791 (GRCm39)		probably benign	Het
Erlec1	A	C	11: 30,884,731 (GRCm39)	S441A	probably benign	Het
Frmd4b	G	T	6: 97,285,663 (GRCm39)	T289N	probably damaging	Het
Gm6133	G	A	18: 78,393,390 (GRCm39)	R128Q	probably benign	Het
Gnai2	A	G	9: 107,493,717 (GRCm39)	S155P	probably damaging	Het
Hrob	T	C	11: 102,146,422 (GRCm39)	C233R	probably benign	Het
Hspg2	T	C	4: 137,239,982 (GRCm39)	S517P	possibly damaging	Het
Ighv9-1	C	A	12: 114,057,814 (GRCm39)	E29*	probably null	Het
Lrp1	T	C	10: 127,409,370 (GRCm39)	K1583R	probably benign	Het
Ltbp1	C	T	17: 75,534,145 (GRCm39)	T211M	probably damaging	Het
Napa	A	G	7: 15,832,669 (GRCm39)	N23S	possibly damaging	Het
Odf2	C	A	2: 29,804,472 (GRCm39)	Q347K	probably damaging	Het
Ogdhl	A	G	14: 32,061,894 (GRCm39)	D504G	probably damaging	Het
Or10aa1	T	C	1: 173,870,191 (GRCm39)	L225P	probably damaging	Het
Pdxdc1	A	T	16: 13,677,016 (GRCm39)	N273K	probably damaging	Het
Rslcan18	T	C	13: 67,262,015 (GRCm39)	I11V	probably benign	Het
Spidr	G	T	16: 15,730,424 (GRCm39)	R664S	possibly damaging	Het
Tead3	T	C	17: 28,552,055 (GRCm39)	N385S	probably benign	Het
Trim13	T	A	14: 61,843,172 (GRCm39)	N396K	probably benign	Het
Trp53bp2	C	T	1: 182,275,993 (GRCm39)	A160V	possibly damaging	Het
Vmn2r69	A	G	7: 85,056,072 (GRCm39)	S689P	possibly damaging	Het
Vmn2r79	A	T	7: 86,651,366 (GRCm39)	Q255L	probably benign	Het
Wsb1	T	C	11: 79,132,867 (GRCm39)	Y276C	probably damaging	Het
Zfp236	G	T	18: 82,639,547 (GRCm39)	N1233K	probably damaging	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
IGL01128:Mttp	APN	3	137,839,758 (GRCm39)	splice site	probably null
IGL01607:Mttp	APN	3	137,810,459 (GRCm39)	missense	probably damaging	0.99
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

2014-02-04