Mutagenetix > Incidental Mutation

Incidental Mutation 'R7310:Mttp'

567484

Institutional Source

Beutler Lab

Gene Symbol

Mttp

Ensembl Gene

ENSMUSG00000028158

Gene Name

microsomal triglyceride transfer protein

Synonyms

1810043K16Rik, MTP

MMRRC Submission

045409-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.893) question?

Stock #

R7310 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

137795616-137849179 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 137800783 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 759 (D759G)

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: D759G

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

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: D759G

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 damaging
Transcript: ENSMUST00000098580
AA Change: D774G

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

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: D774G

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

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810021J22Rik	A	T	11: 58,771,094 (GRCm39)	Q192L	possibly damaging	Het
Abat	G	A	16: 8,423,457 (GRCm39)	R250Q	probably null	Het
Abcg3	A	C	5: 105,114,632 (GRCm39)	F295C	probably benign	Het
Abl1	T	C	2: 31,690,604 (GRCm39)	S708P	possibly damaging	Het
Acap2	A	T	16: 30,926,972 (GRCm39)	Y489*	probably null	Het
Akr1c6	A	T	13: 4,486,354 (GRCm39)	M54L	probably benign	Het
Arhgap5	A	T	12: 52,589,270 (GRCm39)		probably null	Het
Asap1	A	G	15: 63,971,379 (GRCm39)		probably null	Het
Atrnl1	A	T	19: 57,630,856 (GRCm39)	N208Y	possibly damaging	Het
BC028528	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	CTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTT	3: 95,795,448 (GRCm39)		probably benign	Het
BC028528	GTTCTGTGGTCACTG	GTTCTGTGGTCACTGATTCTGTGGTCACTG	3: 95,795,485 (GRCm39)		probably benign	Het
BC028528	G	GGGGTCACTGGTTCTT	3: 95,795,460 (GRCm39)		probably benign	Het
BC028528	ACTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	ACTGGTTCTGTGGTCCCTGGTTCTGTGGTCACTGGTTCTGTGGTCACTGGTTCTGTGGTC	3: 95,795,451 (GRCm39)		probably benign	Het
Bmi1	T	C	2: 18,689,230 (GRCm39)	S305P	probably benign	Het
Bpifc	T	A	10: 85,798,891 (GRCm39)	I431F	probably damaging	Het
C130050O18Rik	A	T	5: 139,400,993 (GRCm39)	M349L	probably benign	Het
Cacna2d1	A	T	5: 16,519,914 (GRCm39)	D428V	probably damaging	Het
Card14	A	C	11: 119,217,005 (GRCm39)	Q363P	probably null	Het
Cdca2	A	T	14: 67,950,673 (GRCm39)	L86H	probably damaging	Het
Cdh22	G	T	2: 164,954,214 (GRCm39)	S769*	probably null	Het
Cdhr17	A	G	5: 17,075,246 (GRCm39)	Y872C	possibly damaging	Het
Cep164	T	C	9: 45,686,664 (GRCm39)	E690G	probably damaging	Het
Cluh	A	G	11: 74,560,285 (GRCm39)	H1304R	probably benign	Het
Daxx	C	A	17: 34,129,435 (GRCm39)	D5E	possibly damaging	Het
Dnah7c	A	G	1: 46,636,127 (GRCm39)	M1117V	possibly damaging	Het
Entpd3	T	A	9: 120,389,821 (GRCm39)		probably null	Het
Esr1	G	A	10: 4,889,259 (GRCm39)	A386T	probably damaging	Het
Etv5	G	A	16: 22,220,487 (GRCm39)	P300L	probably benign	Het
Exoc3l	A	T	8: 106,020,340 (GRCm39)	L195Q	probably damaging	Het
Exog	T	C	9: 119,274,069 (GRCm39)	L18P	unknown	Het
Fgfr1	T	A	8: 26,052,331 (GRCm39)	V219D	probably benign	Het
Gna14	A	T	19: 16,511,113 (GRCm39)	Q54L		Het
Gnb5	T	C	9: 75,221,570 (GRCm39)	L48P	probably benign	Het
Gpbp1	A	G	13: 111,589,924 (GRCm39)	I57T	probably benign	Het
Hnrnpa1	T	A	15: 103,149,884 (GRCm39)	D48E	probably damaging	Het
Hrc	T	A	7: 44,985,227 (GRCm39)	L126*	probably null	Het
Hspa8	T	G	9: 40,714,704 (GRCm39)	D333E	probably benign	Het
Igsf3	T	A	3: 101,338,895 (GRCm39)	V403D	probably benign	Het
Itga10	C	A	3: 96,555,475 (GRCm39)	A143D	probably damaging	Het
Kdr	T	A	5: 76,104,985 (GRCm39)	I1082F	probably damaging	Het
Klk1b11	A	T	7: 43,428,254 (GRCm39)	I242F	probably damaging	Het
Kng2	G	A	16: 22,806,522 (GRCm39)	T559I	probably benign	Het
Map1b	G	A	13: 99,570,163 (GRCm39)	P853S	unknown	Het
Mmp13	T	C	9: 7,280,880 (GRCm39)	I421T	possibly damaging	Het
Mpeg1	A	T	19: 12,439,615 (GRCm39)	T358S	probably damaging	Het
Msantd5l	A	C	11: 51,145,474 (GRCm39)	W38G	probably damaging	Het
Mup17	T	A	4: 61,511,929 (GRCm39)	Y115F	possibly damaging	Het
Myo1a	G	T	10: 127,541,697 (GRCm39)	A79S	probably damaging	Het
Myo9a	T	A	9: 59,778,436 (GRCm39)	N1397K	probably benign	Het
Nadk2	T	C	15: 9,103,469 (GRCm39)		probably null	Het
Ncf1	A	T	5: 134,250,615 (GRCm39)	S402T	probably benign	Het
Ndufb10	T	C	17: 24,941,188 (GRCm39)	D145G	probably damaging	Het
Nlgn2	G	A	11: 69,721,409 (GRCm39)	T163M	possibly damaging	Het
Nol4	A	T	18: 22,903,801 (GRCm39)	H172Q		Het
Nup205	T	A	6: 35,202,904 (GRCm39)	D1370E	possibly damaging	Het
Or1e32	A	C	11: 73,705,112 (GRCm39)	N265K	probably damaging	Het
Or51ab3	T	A	7: 103,201,892 (GRCm39)	I300N	probably damaging	Het
Or5b97	A	G	19: 12,878,637 (GRCm39)	F169S	probably damaging	Het
Pkd1l2	A	G	8: 117,750,773 (GRCm39)	V1746A	probably benign	Het
Plin2	T	A	4: 86,586,628 (GRCm39)	I68F	probably benign	Het
Proc	A	T	18: 32,268,952 (GRCm39)	M11K	probably benign	Het
Rif1	T	C	2: 51,995,631 (GRCm39)	V950A	probably benign	Het
Rmc1	A	G	18: 12,317,972 (GRCm39)	K362E	probably benign	Het
Rnf208	C	A	2: 25,133,587 (GRCm39)	P94T	probably damaging	Het
Rundc3b	A	T	5: 8,571,011 (GRCm39)	Y269*	probably null	Het
Senp7	T	C	16: 56,006,445 (GRCm39)	V950A	probably benign	Het
Sipa1l1	T	C	12: 82,419,269 (GRCm39)	V649A	probably damaging	Het
Sipa1l3	G	T	7: 29,099,121 (GRCm39)	H383N	probably benign	Het
Slc12a5	G	A	2: 164,834,360 (GRCm39)	V794M	probably damaging	Het
Slc7a7	A	G	14: 54,616,482 (GRCm39)	I200T	probably damaging	Het
Spdye4b	A	C	5: 143,188,103 (GRCm39)	I199L	probably damaging	Het
Styxl2	G	A	1: 165,926,300 (GRCm39)	T1104I	possibly damaging	Het
Tle4	A	T	19: 14,495,155 (GRCm39)	H191Q	probably benign	Het
Tnfsf13b	C	A	8: 10,081,651 (GRCm39)	S271*	probably null	Het
Tnks2	G	A	19: 36,856,839 (GRCm39)	V855I	probably benign	Het
Trank1	T	C	9: 111,196,194 (GRCm39)	L1406S	probably damaging	Het
Trhde	T	C	10: 114,636,478 (GRCm39)	E243G	probably damaging	Het
Trim25	A	T	11: 88,906,608 (GRCm39)	N448I	probably benign	Het
Trim31	T	A	17: 37,218,194 (GRCm39)	M308K	probably benign	Het
Ugt2b36	A	T	5: 87,214,138 (GRCm39)	V502E	possibly damaging	Het
Usp10	A	C	8: 120,668,344 (GRCm39)	D215A	possibly damaging	Het
Usp33	T	G	3: 152,066,026 (GRCm39)	L102*	probably null	Het
Wdr12	A	T	1: 60,121,734 (GRCm39)	C272*	probably null	Het
Xndc1	A	C	7: 101,727,938 (GRCm39)		probably null	Het
Zkscan2	T	C	7: 123,089,276 (GRCm39)	I332V	possibly damaging	Het
Zswim5	A	T	4: 116,841,885 (GRCm39)	T822S	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
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
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

Predicted Primers

PCR Primer
(F):5'- GTTTCTAATCCCATGGCTTACAAACAC -3'
(R):5'- TCCTGGGCTTGCATGGAAAC -3'

Sequencing Primer
(F):5'- CTTCAAACAGAAAGCACAGATTTG -3'
(R):5'- AAAGGAATTGATGGGCATTGATTTTC -3'

Posted On

2019-06-26