Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01607:Mttp'

92292

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 #

IGL01607

Quality Score

Status

Chromosome

Chromosomal Location

137795616-137849179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137810459 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 652 (Y652C)

Ref Sequence

ENSEMBL: ENSMUSP00000029805 (fasta)

Gene Model

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

AlphaFold

O08601

Predicted Effect

probably damaging
Transcript: ENSMUST00000029805
AA Change: Y652C

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: Y652C

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

possibly damaging
Transcript: ENSMUST00000098580
AA Change: Y667C

PolyPhen 2 Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: Y667C

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: 27 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsl6	A	G	11: 54,243,823 (GRCm39)	K556E	possibly damaging	Het
Adgre4	A	C	17: 56,101,748 (GRCm39)		probably benign	Het
Ajap1	C	T	4: 153,516,736 (GRCm39)	G202S	probably damaging	Het
Catsperb	G	T	12: 101,446,985 (GRCm39)		probably benign	Het
Ccdc178	T	A	18: 22,200,778 (GRCm39)	D393V	probably benign	Het
Cfap74	A	G	4: 155,503,443 (GRCm39)	T95A	possibly damaging	Het
Dis3l2	A	G	1: 86,673,209 (GRCm39)	T67A	probably benign	Het
Dnaja3	T	C	16: 4,511,259 (GRCm39)	F205L	probably damaging	Het
Dsc1	C	T	18: 20,222,720 (GRCm39)	C584Y	probably damaging	Het
Duox2	C	A	2: 122,122,800 (GRCm39)	V545L	probably benign	Het
Etaa1	A	G	11: 17,903,637 (GRCm39)	L53P	probably benign	Het
Gm14184	C	T	11: 99,590,490 (GRCm39)	C4Y	unknown	Het
Inpp4b	C	T	8: 82,737,292 (GRCm39)	A563V	probably benign	Het
Kcnc3	A	G	7: 44,240,728 (GRCm39)	D140G	probably damaging	Het
Ly6a	A	T	15: 74,867,262 (GRCm39)	M85K	probably benign	Het
Map4k2	C	T	19: 6,395,623 (GRCm39)		probably null	Het
Neu1	A	T	17: 35,153,692 (GRCm39)	N372I	probably benign	Het
Nuak2	G	A	1: 132,255,878 (GRCm39)	V184I	probably damaging	Het
Phf11a	T	C	14: 59,524,950 (GRCm39)	I85V	probably damaging	Het
Polr2e	C	A	10: 79,875,467 (GRCm39)	D3Y	probably damaging	Het
Ralb	A	G	1: 119,411,279 (GRCm39)	V20A	probably damaging	Het
Rln1	A	T	19: 29,309,260 (GRCm39)	V173D	probably benign	Het
Stk38l	T	A	6: 146,673,152 (GRCm39)	C304S	probably damaging	Het
Stk38l	T	C	6: 146,673,725 (GRCm39)		probably benign	Het
Tjp1	G	T	7: 64,985,926 (GRCm39)	D288E	possibly damaging	Het
Trpm3	A	G	19: 22,964,491 (GRCm39)	I1319V	probably benign	Het
Zic2	T	G	14: 122,716,294 (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
IGL01128:Mttp	APN	3	137,839,758 (GRCm39)	splice site	probably null
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

2013-12-09