Incidental Mutation 'R8352:Mttp'
ID |
645551 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mttp
|
Ensembl Gene |
ENSMUSG00000028158 |
Gene Name |
microsomal triglyceride transfer protein |
Synonyms |
1810043K16Rik, MTP |
MMRRC Submission |
067733-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.893)
|
Stock # |
R8352 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 137818374 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glutamic Acid
at position 361
(D361E)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
AlphaFold |
O08601 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000029805
AA Change: D361E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000029805 Gene: ENSMUSG00000028158 AA Change: D361E
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: D376E
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000096179 Gene: ENSMUSG00000028158 AA Change: D376E
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 100.0%
- 10x: 99.7%
- 20x: 99.1%
|
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: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700123K08Rik |
G |
A |
5: 138,561,188 (GRCm39) |
T158M |
probably benign |
Het |
Actl7b |
T |
A |
4: 56,740,251 (GRCm39) |
D369V |
probably damaging |
Het |
Apc |
A |
G |
18: 34,445,804 (GRCm39) |
D900G |
possibly damaging |
Het |
Bola1 |
G |
A |
3: 96,104,573 (GRCm39) |
A7V |
probably benign |
Het |
Bud13 |
A |
G |
9: 46,199,377 (GRCm39) |
N246S |
possibly damaging |
Het |
Cdkal1 |
G |
A |
13: 29,538,663 (GRCm39) |
P499S |
probably benign |
Het |
Celsr1 |
G |
T |
15: 85,917,286 (GRCm39) |
S229* |
probably null |
Het |
Cntnap5c |
C |
T |
17: 58,362,687 (GRCm39) |
R347W |
probably damaging |
Het |
Cox8b |
T |
A |
7: 140,478,929 (GRCm39) |
E62V |
probably null |
Het |
Cyp2t4 |
G |
A |
7: 26,857,162 (GRCm39) |
A342T |
probably benign |
Het |
Cyp8b1 |
A |
G |
9: 121,744,997 (GRCm39) |
Y112H |
probably damaging |
Het |
Dlg5 |
G |
T |
14: 24,241,261 (GRCm39) |
A212D |
probably damaging |
Het |
Dnah7a |
T |
C |
1: 53,466,986 (GRCm39) |
E3626G |
probably null |
Het |
Dpys |
T |
C |
15: 39,656,720 (GRCm39) |
E449G |
possibly damaging |
Het |
Fam187a |
C |
A |
11: 102,777,400 (GRCm39) |
C401* |
probably null |
Het |
Fsip2 |
A |
T |
2: 82,814,937 (GRCm39) |
I3557L |
probably benign |
Het |
Gpr165 |
C |
A |
X: 95,757,623 (GRCm39) |
D7E |
probably benign |
Het |
H2bc7 |
A |
G |
13: 23,758,219 (GRCm39) |
V49A |
probably damaging |
Het |
Ifi213 |
T |
C |
1: 173,422,835 (GRCm39) |
K10R |
possibly damaging |
Het |
Lrrfip1 |
T |
C |
1: 90,926,541 (GRCm39) |
S8P |
probably benign |
Het |
Morc2b |
T |
C |
17: 33,356,476 (GRCm39) |
D432G |
probably damaging |
Het |
Mrgpra4 |
T |
A |
7: 47,631,425 (GRCm39) |
I59F |
probably damaging |
Het |
Mysm1 |
A |
G |
4: 94,863,510 (GRCm39) |
S28P |
probably damaging |
Het |
Nrdc |
T |
A |
4: 108,876,260 (GRCm39) |
V284D |
probably damaging |
Het |
Nrip2 |
A |
T |
6: 128,384,957 (GRCm39) |
D203V |
probably damaging |
Het |
Oog4 |
A |
T |
4: 143,164,047 (GRCm39) |
Y495N |
probably benign |
Het |
Or52h1 |
A |
T |
7: 103,829,103 (GRCm39) |
C171S |
probably damaging |
Het |
Or52n4 |
A |
T |
7: 104,293,736 (GRCm39) |
V281E |
possibly damaging |
Het |
Or7g19 |
T |
A |
9: 18,856,459 (GRCm39) |
L172M |
possibly damaging |
Het |
Or8c11 |
A |
T |
9: 38,289,647 (GRCm39) |
M151L |
probably benign |
Het |
Pacrg |
T |
A |
17: 10,795,523 (GRCm39) |
R146* |
probably null |
Het |
Pcdh18 |
A |
T |
3: 49,699,624 (GRCm39) |
M946K |
possibly damaging |
Het |
Perm1 |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT |
4: 156,302,525 (GRCm39) |
|
probably benign |
Het |
Pign |
A |
G |
1: 105,575,917 (GRCm39) |
I241T |
probably benign |
Het |
Pik3cg |
A |
G |
12: 32,243,639 (GRCm39) |
I944T |
probably damaging |
Het |
Pkd1l3 |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA |
8: 110,350,827 (GRCm39) |
|
probably benign |
Het |
Ppp2r5c |
T |
A |
12: 110,510,511 (GRCm39) |
F99L |
probably benign |
Het |
Prex1 |
A |
T |
2: 166,431,493 (GRCm39) |
N756K |
probably benign |
Het |
Prex2 |
A |
T |
1: 11,355,363 (GRCm39) |
M1555L |
probably benign |
Het |
Prex2 |
T |
G |
1: 11,355,364 (GRCm39) |
M1555R |
probably benign |
Het |
Prl3c1 |
T |
A |
13: 27,386,385 (GRCm39) |
D123E |
probably benign |
Het |
Prr22 |
G |
A |
17: 57,078,311 (GRCm39) |
G155R |
probably damaging |
Het |
Rev3l |
A |
G |
10: 39,698,899 (GRCm39) |
D1132G |
probably damaging |
Het |
Rnf180 |
A |
T |
13: 105,318,056 (GRCm39) |
F452Y |
probably damaging |
Het |
Scn4b |
A |
T |
9: 45,058,039 (GRCm39) |
I44F |
possibly damaging |
Het |
Sirpb1b |
T |
A |
3: 15,607,410 (GRCm39) |
I291L |
probably benign |
Het |
Slc12a9 |
C |
A |
5: 137,313,737 (GRCm39) |
V741L |
probably benign |
Het |
Tbc1d8 |
G |
T |
1: 39,444,438 (GRCm39) |
R174S |
probably damaging |
Het |
Tenm2 |
A |
G |
11: 35,914,428 (GRCm39) |
F2370L |
probably damaging |
Het |
Tfec |
T |
A |
6: 16,844,202 (GRCm39) |
H115L |
probably damaging |
Het |
Tnxb |
A |
T |
17: 34,908,381 (GRCm39) |
T1345S |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,568,831 (GRCm39) |
N27354I |
probably damaging |
Het |
Unc13c |
A |
G |
9: 73,838,290 (GRCm39) |
Y854H |
probably damaging |
Het |
Utrn |
A |
T |
10: 12,689,253 (GRCm39) |
W11R |
probably benign |
Het |
Vmn2r26 |
A |
G |
6: 124,016,577 (GRCm39) |
Q347R |
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 |
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 |
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 |
|
|
Predicted Primers |
PCR Primer
(F):5'- AAGCCTATGATCACCATTTCCC -3'
(R):5'- CAGTACAATAAAGCAGTCCTTTGGG -3'
Sequencing Primer
(F):5'- CCAGTGTCCCTGACTTACAAGGAG -3'
(R):5'- ATTAACAGAAGGCTGTGAG -3'
|
Posted On |
2020-09-02 |