Incidental Mutation 'IGL02932:Mttp'
ID364140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mttp
Ensembl Gene ENSMUSG00000028158
Gene Namemicrosomal triglyceride transfer protein
Synonyms1810043K16Rik, MTP
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.800) question?
Stock #IGL02932
Quality Score
Status
Chromosome3
Chromosomal Location138089854-138144968 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 138111744 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 415 (F415S)
Ref Sequence ENSEMBL: ENSMUSP00000029805 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029805] [ENSMUST00000098580]
Predicted Effect probably benign
Transcript: ENSMUST00000029805
AA Change: F415S

PolyPhen 2 Score 0.073 (Sensitivity: 0.93; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: F415S

DomainStartEndE-ValueType
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: F430S

PolyPhen 2 Score 0.071 (Sensitivity: 0.94; Specificity: 0.84)
SMART Domains Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: F430S

DomainStartEndE-ValueType
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: 37 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap42 T A 9: 9,115,708 E122D probably damaging Het
Asb3 G A 11: 31,029,067 probably null Het
Avl9 T C 6: 56,736,551 S265P probably benign Het
Cep44 C T 8: 56,547,424 R18Q probably damaging Het
Clec10a T C 11: 70,169,728 probably benign Het
Cog4 A G 8: 110,852,433 I115V probably benign Het
Coq3 C T 4: 21,900,430 A219V probably benign Het
Cry2 G A 2: 92,413,117 R460* probably null Het
Ddx39b A G 17: 35,253,361 probably benign Het
Dhx40 G A 11: 86,771,929 R646C probably damaging Het
Ears2 G A 7: 122,063,061 R55C probably damaging Het
Eif3m C T 2: 105,014,869 G26R probably damaging Het
Exo5 A G 4: 120,922,545 L41P probably benign Het
Fut10 A G 8: 31,259,937 H417R probably damaging Het
Gars T A 6: 55,060,944 L296Q probably damaging Het
Gpr143 A T X: 152,793,443 probably benign Het
Htr1b C A 9: 81,631,636 R306L probably damaging Het
Lama3 G A 18: 12,528,801 A2185T probably damaging Het
Mbd5 C A 2: 49,279,448 Q1544K possibly damaging Het
Mccc1 T C 3: 35,960,029 E713G possibly damaging Het
Mug1 A G 6: 121,887,427 T1428A probably benign Het
Mup6 A C 4: 60,006,009 D159A probably damaging Het
Nsd2 T C 5: 33,880,128 L698P probably damaging Het
Olfr1184 G T 2: 88,487,175 V148F probably benign Het
Olfr1361 A T 13: 21,658,831 M164K probably damaging Het
Olfr495 A G 7: 108,395,513 N131S probably benign Het
Olfr815 A T 10: 129,902,418 C97* probably null Het
Osgepl1 G A 1: 53,321,516 R372H probably benign Het
Pias2 C T 18: 77,145,103 H537Y probably damaging Het
Slc38a7 A C 8: 95,846,155 I149M probably damaging Het
Smn1 A G 13: 100,127,964 T68A probably benign Het
Syde2 A G 3: 146,001,476 K657R possibly damaging Het
Tdrd5 A T 1: 156,270,620 H625Q possibly damaging Het
Tead3 T C 17: 28,341,351 Y2C probably damaging Het
Tmem255a T A X: 38,208,063 T280S probably benign Het
Ttpa A G 4: 20,021,215 T128A possibly damaging Het
Wdhd1 A G 14: 47,272,134 probably null Het
Other mutations in Mttp
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
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
Z1176:Mttp UTSW 3 138104779 missense probably benign
Posted On2015-12-18