Mutagenetix > Incidental Mutation

Incidental Mutation 'R8677:Mttp'

661434

Institutional Source

Beutler Lab

Gene Symbol

Mttp

Ensembl Gene

ENSMUSG00000028158

Gene Name

microsomal triglyceride transfer protein

Synonyms

1810043K16Rik, MTP

MMRRC Submission

068532-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.835) question?

Stock #

R8677 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

138089854-138144968 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 138104676 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Glutamine at position 659 (H659Q)

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: H659Q

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

SMART Domains

Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: H659Q

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: H674Q

PolyPhen 2 Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)

SMART Domains

Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: H674Q

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: 100.0%
10x: 99.8%
20x: 99.4%

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: 64 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	T	C	11: 23,595,471	D474G	probably benign	Het
1190007I07Rik	G	T	10: 82,620,216	T37K	possibly damaging	Het
2610507B11Rik	C	T	11: 78,284,156	R1706C	probably damaging	Het
Acd	A	C	8: 105,700,944	S25R	probably damaging	Het
Acly	A	T	11: 100,519,743	H136Q	probably damaging	Het
Adrm1	C	T	2: 180,172,039	T2M	probably benign	Het
Ankrd12	A	T	17: 66,024,214	L246M	probably damaging	Het
Cacnb3	T	C	15: 98,642,050	L258P	probably damaging	Het
Ccdc129	A	G	6: 55,872,594	H37R	probably benign	Het
Cd36	C	T	5: 17,820,495	V76M	probably damaging	Het
Cep120	A	G	18: 53,738,561	F80L	possibly damaging	Het
Clcn1	A	T	6: 42,290,585		probably null	Het
Col17a1	T	C	19: 47,651,801	T1042A	probably benign	Het
Comp	A	T	8: 70,380,260	N623Y	probably damaging	Het
Ctnnal1	A	G	4: 56,813,272	L653P	probably benign	Het
Cx3cl1	G	T	8: 94,779,815	R149S	probably benign	Het
Dbndd2	T	A	2: 164,488,602	N58K	probably damaging	Het
Dclk1	A	G	3: 55,502,419	I595V	probably damaging	Het
Dhx15	T	C	5: 52,184,544	D144G	probably benign	Het
Dlat	T	C	9: 50,658,707	E120G	probably damaging	Het
Fam171a1	T	A	2: 3,220,315	Y273N	probably damaging	Het
Fndc3b	A	T	3: 27,457,027	V778D	probably benign	Het
Grn	T	C	11: 102,433,567	S129P	possibly damaging	Het
Grxcr1	T	C	5: 68,110,414	F169L	possibly damaging	Het
Hcn2	A	G	10: 79,724,785	I317V	probably benign	Het
Heca	T	C	10: 17,915,676	N211D	probably benign	Het
Htr1f	T	C	16: 64,926,051	T293A	possibly damaging	Het
Ifitm10	T	A	7: 142,356,012	I116F	probably benign	Het
Ivl	A	T	3: 92,572,679	D26E	probably benign	Het
Kcnma1	T	A	14: 23,386,350	E761V	probably benign	Het
Ltbp1	G	T	17: 75,348,758	V923F	probably benign	Het
Mfsd4b2	A	T	10: 39,923,809	F32L	probably benign	Het
Micu2	T	C	14: 57,923,963	R301G	possibly damaging	Het
Miip	C	T	4: 147,863,046	C219Y	probably damaging	Het
Mn1	T	A	5: 111,419,019	L285*	probably null	Het
Mthfd1l	T	A	10: 4,048,250	N664K	possibly damaging	Het
Myadml2	G	A	11: 120,647,989	P7S	probably benign	Het
Nlgn3	T	C	X: 101,308,784	V179A	probably damaging	Het
Nlrp4c	C	T	7: 6,072,645	T645I	probably damaging	Het
Notch1	C	T	2: 26,469,924	V1260I	probably damaging	Het
Numa1	T	C	7: 102,000,941	L1293P	probably damaging	Het
Olfr403	A	T	11: 74,195,589	I29F	probably benign	Het
Olfr684	A	G	7: 105,157,568	L38P	probably benign	Het
Pcdh12	G	T	18: 38,282,138	H645N	probably benign	Het
Pdcd1	A	T	1: 94,041,227	L122H	probably damaging	Het
Pknox2	G	A	9: 36,910,591	P246L	probably damaging	Het
Polr2a	A	T	11: 69,735,555	S1590T	possibly damaging	Het
Ppp1r16b	G	A	2: 158,751,178	D226N	probably damaging	Het
Proser1	A	G	3: 53,477,701	T335A	probably benign	Het
Ptprc	A	G	1: 138,083,597	I598T	probably damaging	Het
Rasal3	T	C	17: 32,396,854	T337A	probably benign	Het
Rasgrp3	A	T	17: 75,512,060	T415S	probably benign	Het
Rbm7	T	A	9: 48,489,973	R152*	probably null	Het
Sf3b2	C	T	19: 5,286,229	R513H	probably damaging	Het
Slc22a30	A	G	19: 8,386,671	S214P	probably benign	Het
Spam1	A	G	6: 24,796,985	T312A	probably benign	Het
Ssh2	A	G	11: 77,455,193	T1335A	possibly damaging	Het
Tef	T	A	15: 81,814,968	L59Q	probably damaging	Het
Tmem131l	A	C	3: 83,928,702	V700G	probably damaging	Het
Twsg1	A	G	17: 65,926,407	S183P	probably damaging	Het
Unc13c	T	C	9: 73,932,961	T203A	probably benign	Het
Vmn2r75	G	T	7: 86,165,202	P361Q	possibly damaging	Het
Xirp2	A	T	2: 67,516,634	N3073I	probably damaging	Het
Zfp114	A	G	7: 24,180,645	N140D	probably benign	Het

Other mutations in Mttp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00722:Mttp	APN	3	138109015	missense	possibly damaging	0.84
IGL00983:Mttp	APN	3	138115129	splice site	probably benign
IGL01128:Mttp	APN	3	138133997	splice site	probably null
IGL01607:Mttp	APN	3	138104698	missense	probably damaging	0.99
IGL01760:Mttp	APN	3	138111736	missense	probably benign	0.00
IGL01947:Mttp	APN	3	138107129	missense	probably damaging	1.00
IGL02184:Mttp	APN	3	138116000	critical splice donor site	probably null
IGL02932:Mttp	APN	3	138111744	missense	probably benign	0.07
IGL02957:Mttp	APN	3	138109081	missense	possibly damaging	0.95
IGL03082:Mttp	APN	3	138123795	missense	probably benign	0.01
IGL03302:Mttp	APN	3	138104707	missense	possibly damaging	0.90
IGL03381:Mttp	APN	3	138104943	missense	probably damaging	1.00
G1patch:Mttp	UTSW	3	138107238	missense	probably damaging	1.00
P0040:Mttp	UTSW	3	138112566	missense	possibly damaging	0.82
R0543:Mttp	UTSW	3	138111696	missense	possibly damaging	0.75
R0738:Mttp	UTSW	3	138103313	missense	probably damaging	1.00
R0967:Mttp	UTSW	3	138092723	missense	probably benign	0.00
R1281:Mttp	UTSW	3	138107219	missense	possibly damaging	0.95
R1565:Mttp	UTSW	3	138116405	critical splice donor site	probably null
R1660:Mttp	UTSW	3	138103193	missense	probably damaging	1.00
R1828:Mttp	UTSW	3	138107280	missense	probably damaging	1.00
R1886:Mttp	UTSW	3	138092615	missense	probably damaging	1.00
R1912:Mttp	UTSW	3	138116027	missense	probably benign	0.01
R1938:Mttp	UTSW	3	138125121	missense	probably benign	0.21
R2020:Mttp	UTSW	3	138118402	missense	probably damaging	0.98
R2109:Mttp	UTSW	3	138095002	missense	probably benign	0.27
R2336:Mttp	UTSW	3	138116095	missense	possibly damaging	0.81
R2392:Mttp	UTSW	3	138095021	missense	probably damaging	0.98
R3021:Mttp	UTSW	3	138111703	missense	probably benign
R3774:Mttp	UTSW	3	138114263	splice site	probably null
R3776:Mttp	UTSW	3	138114263	splice site	probably null
R4687:Mttp	UTSW	3	138092735	missense	possibly damaging	0.66
R4708:Mttp	UTSW	3	138134098	unclassified	probably benign
R4756:Mttp	UTSW	3	138116071	missense	possibly damaging	0.77
R4832:Mttp	UTSW	3	138116050	missense	probably benign
R5377:Mttp	UTSW	3	138105029	missense	probably benign	0.03
R5670:Mttp	UTSW	3	138125113	missense	probably damaging	0.99
R6613:Mttp	UTSW	3	138109078	missense	probably damaging	1.00
R6725:Mttp	UTSW	3	138107238	missense	probably damaging	1.00
R6799:Mttp	UTSW	3	138095080	missense	probably benign	0.04
R6920:Mttp	UTSW	3	138115282	missense	possibly damaging	0.49
R7074:Mttp	UTSW	3	138107273	missense	possibly damaging	0.53
R7131:Mttp	UTSW	3	138116132	missense	probably benign	0.13
R7275:Mttp	UTSW	3	138123785	missense	probably benign	0.19
R7291:Mttp	UTSW	3	138091203	missense	probably damaging	1.00
R7310:Mttp	UTSW	3	138095022	missense	probably damaging	1.00
R7769:Mttp	UTSW	3	138103112	missense	probably damaging	1.00
R7909:Mttp	UTSW	3	138118417	nonsense	probably null
R8037:Mttp	UTSW	3	138091122	missense	probably damaging	1.00
R8220:Mttp	UTSW	3	138123848	missense	probably benign	0.00
R8335:Mttp	UTSW	3	138103212	missense	possibly damaging	0.90
R8352:Mttp	UTSW	3	138112613	missense	probably damaging	1.00
R8452:Mttp	UTSW	3	138112613	missense	probably damaging	1.00
R8536:Mttp	UTSW	3	138104943	missense	probably damaging	1.00
R8877:Mttp	UTSW	3	138112556	missense	probably damaging	0.99
R9233:Mttp	UTSW	3	138116519	missense	probably damaging	1.00
R9237:Mttp	UTSW	3	138104683	missense	probably benign
R9427:Mttp	UTSW	3	138115201	missense	probably benign	0.01
R9749:Mttp	UTSW	3	138125228	missense	probably damaging	0.99
R9797:Mttp	UTSW	3	138108964	missense	probably damaging	0.96
Z1176:Mttp	UTSW	3	138104779	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- AGTCTAACTAGCAGATTCTGGTAC -3'
(R):5'- TGGAGCTGTGACTGAGTTCC -3'

Sequencing Primer
(F):5'- ATATCTGTACCTGTATCTGTAGCTG -3'
(R):5'- GCTGTGACTGAGTTCCACCCC -3'

Posted On

2021-03-08