Incidental Mutation 'IGL00722:Mttp'
ID |
12736 |
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 |
|
Is this an essential gene? |
Probably essential
(E-score: 0.849)
|
Stock # |
IGL00722
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
138089854-138144968 bp(-) (GRCm38) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 138109015 bp (GRCm38)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Phenylalanine
at position 500
(V500F)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
AlphaFold |
O08601 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029805
AA Change: V500F
PolyPhen 2
Score 0.838 (Sensitivity: 0.84; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000029805 Gene: ENSMUSG00000028158 AA Change: V500F
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: V515F
PolyPhen 2
Score 0.090 (Sensitivity: 0.93; Specificity: 0.85)
|
SMART Domains |
Protein: ENSMUSP00000096179 Gene: ENSMUSG00000028158 AA Change: V515F
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: 12 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acp1 |
T |
C |
12: 30,897,793 |
D82G |
probably damaging |
Het |
Alpk1 |
A |
G |
3: 127,680,213 |
S714P |
probably benign |
Het |
Atp11b |
T |
C |
3: 35,819,935 |
I491T |
probably damaging |
Het |
Frg2f1 |
C |
T |
4: 119,531,110 |
R64K |
possibly damaging |
Het |
Hibch |
T |
C |
1: 52,901,320 |
V216A |
probably damaging |
Het |
Osbpl9 |
T |
C |
4: 109,072,010 |
I397V |
probably damaging |
Het |
Rpusd4 |
T |
A |
9: 35,268,418 |
V69D |
possibly damaging |
Het |
Setd2 |
T |
C |
9: 110,551,136 |
S1340P |
possibly damaging |
Het |
Stk17b |
T |
C |
1: 53,764,140 |
S167G |
probably damaging |
Het |
Strn |
T |
C |
17: 78,692,420 |
D129G |
possibly damaging |
Het |
Wdr44 |
T |
C |
X: 23,732,309 |
|
probably benign |
Het |
Zfp558 |
G |
T |
9: 18,456,521 |
P324T |
probably damaging |
Het |
|
Other mutations in Mttp |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R8677:Mttp
|
UTSW |
3 |
138104676 |
missense |
probably benign |
0.00 |
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 |
|
|
Posted On |
2012-12-06 |