Incidental Mutation 'IGL00983:Mttp'
ID |
27173 |
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: 0.893)
|
Stock # |
IGL00983
|
Quality Score |
|
Status
|
|
Chromosome |
3 |
Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
C to A
at 137820890 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000096179
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
AlphaFold |
O08601 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029805
|
SMART Domains |
Protein: ENSMUSP00000029805 Gene: ENSMUSG00000028158
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
|
SMART Domains |
Protein: ENSMUSP00000096179 Gene: ENSMUSG00000028158
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: 37 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2810021J22Rik |
C |
T |
11: 58,771,438 (GRCm39) |
Q307* |
probably null |
Het |
Acss3 |
A |
T |
10: 106,802,825 (GRCm39) |
C473* |
probably null |
Het |
Adgrg1 |
T |
A |
8: 95,731,871 (GRCm39) |
S178T |
probably damaging |
Het |
Anxa7 |
C |
A |
14: 20,508,749 (GRCm39) |
L386F |
possibly damaging |
Het |
Calcrl |
T |
C |
2: 84,200,798 (GRCm39) |
E82G |
probably benign |
Het |
Ccr9 |
C |
T |
9: 123,608,351 (GRCm39) |
P11L |
probably benign |
Het |
Cep164 |
C |
A |
9: 45,686,554 (GRCm39) |
V887L |
possibly damaging |
Het |
Dctn6 |
A |
G |
8: 34,559,747 (GRCm39) |
L136P |
probably damaging |
Het |
Dnase1 |
T |
C |
16: 3,857,417 (GRCm39) |
V238A |
possibly damaging |
Het |
Fat1 |
A |
G |
8: 45,486,427 (GRCm39) |
Y3304C |
probably damaging |
Het |
Fbxo31 |
A |
T |
8: 122,281,069 (GRCm39) |
V359D |
possibly damaging |
Het |
Gpr182 |
A |
G |
10: 127,586,657 (GRCm39) |
I98T |
possibly damaging |
Het |
Gspt1 |
C |
T |
16: 11,048,861 (GRCm39) |
|
probably benign |
Het |
Itgam |
C |
A |
7: 127,667,839 (GRCm39) |
T70K |
probably damaging |
Het |
Itpr2 |
A |
G |
6: 146,212,479 (GRCm39) |
|
probably benign |
Het |
Kank3 |
T |
A |
17: 34,040,791 (GRCm39) |
M458K |
probably damaging |
Het |
Kcnd2 |
A |
G |
6: 21,714,153 (GRCm39) |
K379E |
possibly damaging |
Het |
Macf1 |
C |
T |
4: 123,275,915 (GRCm39) |
V4206I |
probably damaging |
Het |
Mdn1 |
T |
C |
4: 32,735,525 (GRCm39) |
L3397S |
probably damaging |
Het |
Msh3 |
A |
T |
13: 92,436,785 (GRCm39) |
N508K |
probably damaging |
Het |
Nme5 |
G |
T |
18: 34,700,181 (GRCm39) |
Q155K |
probably benign |
Het |
Or13p3 |
A |
T |
4: 118,567,119 (GRCm39) |
N172Y |
probably damaging |
Het |
Or2r11 |
A |
T |
6: 42,437,029 (GRCm39) |
I308N |
probably benign |
Het |
Or52b4i |
T |
A |
7: 102,191,593 (GRCm39) |
I150N |
possibly damaging |
Het |
Pfkp |
A |
T |
13: 6,631,603 (GRCm39) |
W151R |
probably damaging |
Het |
Pkd1l1 |
T |
A |
11: 8,794,585 (GRCm39) |
T1859S |
probably benign |
Het |
Pmvk |
T |
C |
3: 89,374,890 (GRCm39) |
W96R |
probably damaging |
Het |
Prdx6b |
T |
A |
2: 80,123,539 (GRCm39) |
M116K |
probably damaging |
Het |
Ptpro |
A |
C |
6: 137,395,246 (GRCm39) |
L876F |
probably benign |
Het |
Sdcbp |
G |
T |
4: 6,392,953 (GRCm39) |
E197* |
probably null |
Het |
Serpinb1c |
A |
T |
13: 33,068,207 (GRCm39) |
S188R |
possibly damaging |
Het |
Sorcs1 |
A |
T |
19: 50,164,566 (GRCm39) |
D988E |
probably damaging |
Het |
Tmbim1 |
C |
A |
1: 74,334,422 (GRCm39) |
G46V |
probably damaging |
Het |
Ubl4b |
C |
T |
3: 107,461,756 (GRCm39) |
G168E |
unknown |
Het |
Vmn2r91 |
T |
C |
17: 18,325,820 (GRCm39) |
F146S |
probably benign |
Het |
Zdhhc20 |
T |
C |
14: 58,076,613 (GRCm39) |
N335D |
possibly damaging |
Het |
Zzz3 |
T |
G |
3: 152,161,447 (GRCm39) |
|
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 |
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 |
IGL03381:Mttp
|
APN |
3 |
137,810,704 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
2013-04-17 |