Incidental Mutation 'IGL00983:Mttp'
ID27173
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: 0.885) question?
Stock #IGL00983
Quality Score
Status
Chromosome3
Chromosomal Location138089854-138144968 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) C to A at 138115129 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000096179 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029805] [ENSMUST00000098580]
Predicted Effect probably benign
Transcript: ENSMUST00000029805
SMART Domains Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158

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
SMART Domains Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158

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
2810021J22Rik C T 11: 58,880,612 Q307* probably null Het
Acss3 A T 10: 106,966,964 C473* probably null Het
Adgrg1 T A 8: 95,005,243 S178T probably damaging Het
Anxa7 C A 14: 20,458,681 L386F possibly damaging Het
Calcrl T C 2: 84,370,454 E82G probably benign Het
Ccr9 C T 9: 123,779,286 P11L probably benign Het
Cep164 C A 9: 45,775,256 V887L possibly damaging Het
Dctn6 A G 8: 34,092,593 L136P probably damaging Het
Dnase1 T C 16: 4,039,553 V238A possibly damaging Het
Fat1 A G 8: 45,033,390 Y3304C probably damaging Het
Fbxo31 A T 8: 121,554,330 V359D possibly damaging Het
Gpr182 A G 10: 127,750,788 I98T possibly damaging Het
Gspt1 C T 16: 11,230,997 probably benign Het
Itgam C A 7: 128,068,667 T70K probably damaging Het
Itpr2 A G 6: 146,310,981 probably benign Het
Kank3 T A 17: 33,821,817 M458K probably damaging Het
Kcnd2 A G 6: 21,714,154 K379E possibly damaging Het
Macf1 C T 4: 123,382,122 V4206I probably damaging Het
Mdn1 T C 4: 32,735,525 L3397S probably damaging Het
Msh3 A T 13: 92,300,277 N508K probably damaging Het
Nme5 G T 18: 34,567,128 Q155K probably benign Het
Olfr1341 A T 4: 118,709,922 N172Y probably damaging Het
Olfr458 A T 6: 42,460,095 I308N probably benign Het
Olfr548-ps1 T A 7: 102,542,386 I150N possibly damaging Het
Pfkp A T 13: 6,581,567 W151R probably damaging Het
Pkd1l1 T A 11: 8,844,585 T1859S probably benign Het
Pmvk T C 3: 89,467,583 W96R probably damaging Het
Prdx6b T A 2: 80,293,195 M116K probably damaging Het
Ptpro A C 6: 137,418,248 L876F probably benign Het
Sdcbp G T 4: 6,392,953 E197* probably null Het
Serpinb1c A T 13: 32,884,224 S188R possibly damaging Het
Sorcs1 A T 19: 50,176,128 D988E probably damaging Het
Tmbim1 C A 1: 74,295,263 G46V probably damaging Het
Ubl4b C T 3: 107,554,440 G168E unknown Het
Vmn2r91 T C 17: 18,105,558 F146S probably benign Het
Zdhhc20 T C 14: 57,839,156 N335D possibly damaging Het
Zzz3 T G 3: 152,455,810 probably benign Het
Other mutations in Mttp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00722:Mttp APN 3 138109015 missense possibly damaging 0.84
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
R8677:Mttp UTSW 3 138104676 missense probably benign 0.00
R8877:Mttp UTSW 3 138112556 missense probably damaging 0.99
Z1176:Mttp UTSW 3 138104779 missense probably benign
Posted On2013-04-17