Incidental Mutation 'IGL03381:Mttp'
| ID |
420693 |
| 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 |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
IGL03381
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137810704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 637
(R637C)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
| AlphaFold |
O08601 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029805
AA Change: R622C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: R622C
| 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: R637C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: R637C
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A330017A19Rik |
T |
C |
17: 47,200,812 (GRCm39) |
|
probably benign |
Het |
| Abca16 |
T |
C |
7: 120,127,041 (GRCm39) |
F1243S |
probably benign |
Het |
| Adgrv1 |
A |
G |
13: 81,666,086 (GRCm39) |
V1990A |
probably damaging |
Het |
| Arhgdib |
G |
A |
6: 136,909,314 (GRCm39) |
T69I |
probably benign |
Het |
| Atf2 |
G |
A |
2: 73,659,012 (GRCm39) |
A214V |
probably benign |
Het |
| Ccr2 |
G |
A |
9: 123,906,409 (GRCm39) |
V230I |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,959,482 (GRCm39) |
E384G |
probably damaging |
Het |
| Epha5 |
T |
A |
5: 84,479,191 (GRCm39) |
D271V |
probably damaging |
Het |
| Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
| Gpr15 |
A |
G |
16: 58,538,339 (GRCm39) |
F250S |
probably damaging |
Het |
| Gzmf |
A |
T |
14: 56,444,450 (GRCm39) |
V41E |
probably benign |
Het |
| H2-T10 |
C |
T |
17: 36,430,246 (GRCm39) |
D232N |
probably benign |
Het |
| H2-T10 |
T |
A |
17: 36,430,249 (GRCm39) |
K231* |
probably null |
Het |
| Hsd3b6 |
A |
G |
3: 98,715,128 (GRCm39) |
V88A |
possibly damaging |
Het |
| Kit |
C |
T |
5: 75,767,788 (GRCm39) |
T57M |
probably benign |
Het |
| Klhl22 |
A |
G |
16: 17,610,591 (GRCm39) |
D614G |
possibly damaging |
Het |
| Matr3 |
T |
A |
18: 35,712,078 (GRCm39) |
|
probably benign |
Het |
| Mff |
A |
G |
1: 82,719,661 (GRCm39) |
Y213C |
probably damaging |
Het |
| Mrnip |
A |
G |
11: 50,090,417 (GRCm39) |
T194A |
probably benign |
Het |
| Msh6 |
T |
C |
17: 88,292,537 (GRCm39) |
F431L |
probably damaging |
Het |
| Nlrc3 |
A |
G |
16: 3,782,179 (GRCm39) |
V410A |
probably benign |
Het |
| Or4c120 |
A |
G |
2: 89,001,523 (GRCm39) |
I11T |
possibly damaging |
Het |
| Or52a5b |
T |
C |
7: 103,417,044 (GRCm39) |
I187V |
probably benign |
Het |
| Or5b108 |
T |
A |
19: 13,168,769 (GRCm39) |
V246D |
probably damaging |
Het |
| Pramel21 |
T |
C |
4: 143,343,625 (GRCm39) |
|
probably benign |
Het |
| Psip1 |
T |
C |
4: 83,404,022 (GRCm39) |
T2A |
probably benign |
Het |
| Rbm33 |
T |
C |
5: 28,599,390 (GRCm39) |
F921L |
unknown |
Het |
| Rhbdl2 |
T |
C |
4: 123,716,610 (GRCm39) |
V189A |
possibly damaging |
Het |
| Rpap2 |
C |
T |
5: 107,768,067 (GRCm39) |
P302S |
probably benign |
Het |
| Sec23ip |
T |
A |
7: 128,352,029 (GRCm39) |
V32D |
probably damaging |
Het |
| Sh3yl1 |
T |
C |
12: 30,976,836 (GRCm39) |
I47T |
possibly damaging |
Het |
| Spmip4 |
T |
C |
6: 50,566,116 (GRCm39) |
S120G |
probably damaging |
Het |
| Tenm2 |
A |
C |
11: 35,959,238 (GRCm39) |
S1104A |
probably benign |
Het |
| Ufd1 |
A |
G |
16: 18,644,507 (GRCm39) |
D190G |
probably damaging |
Het |
| Ugt1a7c |
T |
C |
1: 88,023,512 (GRCm39) |
F224L |
probably benign |
Het |
| Utp20 |
G |
T |
10: 88,657,867 (GRCm39) |
F64L |
probably damaging |
Het |
| Vmn1r198 |
A |
G |
13: 22,539,006 (GRCm39) |
Y164C |
probably benign |
Het |
| Wdcp |
T |
A |
12: 4,901,926 (GRCm39) |
V594D |
probably damaging |
Het |
| Xirp2 |
A |
C |
2: 67,344,570 (GRCm39) |
E2270D |
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 |
|
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 |
|
R7310:Mttp
|
UTSW |
3 |
137,800,783 (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 |
|
|
| Posted On |
2016-08-02 |
Incidental Mutation