Incidental Mutation 'R9237:Mttp'
| ID |
700527 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R9237 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137810444 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 657
(E657G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000029805
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
| AlphaFold |
O08601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029805
AA Change: E657G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: E657G
| 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: E672G
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: E672G
| 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: 99.9%
- 10x: 99.7%
- 20x: 98.9%
|
| 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: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
A |
T |
1: 71,318,557 (GRCm39) |
N1815K |
probably damaging |
Het |
| Acat1 |
C |
A |
9: 53,494,816 (GRCm39) |
A359S |
probably damaging |
Het |
| Actn1 |
T |
C |
12: 80,240,470 (GRCm39) |
N206D |
possibly damaging |
Het |
| Adgrf4 |
T |
A |
17: 42,980,782 (GRCm39) |
H101L |
probably benign |
Het |
| Ager |
T |
A |
17: 34,816,869 (GRCm39) |
M1K |
probably null |
Het |
| Akap12 |
T |
C |
10: 4,307,231 (GRCm39) |
I1452T |
probably benign |
Het |
| Arap3 |
G |
A |
18: 38,112,934 (GRCm39) |
A1092V |
possibly damaging |
Het |
| Bnip5 |
T |
C |
17: 29,123,522 (GRCm39) |
E392G |
probably benign |
Het |
| C8b |
A |
G |
4: 104,650,481 (GRCm39) |
T430A |
probably benign |
Het |
| Dars2 |
G |
A |
1: 160,873,025 (GRCm39) |
R455W |
probably damaging |
Het |
| Erbb4 |
T |
G |
1: 68,081,601 (GRCm39) |
Q1144H |
possibly damaging |
Het |
| Exoc2 |
G |
A |
13: 31,048,858 (GRCm39) |
H732Y |
probably benign |
Het |
| Fhad1 |
T |
A |
4: 141,632,483 (GRCm39) |
M1219L |
probably benign |
Het |
| Fktn |
G |
A |
4: 53,734,854 (GRCm39) |
G125D |
probably benign |
Het |
| Gna15 |
T |
C |
10: 81,359,683 (GRCm39) |
K36E |
possibly damaging |
Het |
| Gpr156 |
C |
T |
16: 37,825,648 (GRCm39) |
Q622* |
probably null |
Het |
| Grip1 |
C |
T |
10: 119,911,310 (GRCm39) |
S1091L |
probably benign |
Het |
| H4c12 |
A |
G |
13: 21,934,534 (GRCm39) |
S48P |
probably damaging |
Het |
| Helt |
A |
G |
8: 46,745,536 (GRCm39) |
F154L |
probably benign |
Het |
| Ide |
T |
C |
19: 37,307,898 (GRCm39) |
N38S |
|
Het |
| Ighg2b |
A |
T |
12: 113,270,217 (GRCm39) |
V267E |
|
Het |
| Map3k10 |
C |
T |
7: 27,357,842 (GRCm39) |
W645* |
probably null |
Het |
| Mcrip1 |
G |
A |
11: 120,435,542 (GRCm39) |
P31L |
probably damaging |
Het |
| Myom1 |
C |
T |
17: 71,408,051 (GRCm39) |
T1195I |
probably damaging |
Het |
| Myom2 |
T |
C |
8: 15,152,591 (GRCm39) |
V646A |
possibly damaging |
Het |
| Nlrc3 |
A |
T |
16: 3,783,073 (GRCm39) |
M128K |
probably benign |
Het |
| Nr2f6 |
A |
C |
8: 71,831,073 (GRCm39) |
C112W |
probably damaging |
Het |
| Or5af1 |
A |
T |
11: 58,722,057 (GRCm39) |
I26F |
possibly damaging |
Het |
| Or5m13b |
T |
A |
2: 85,754,267 (GRCm39) |
Y218* |
probably null |
Het |
| P2rx3 |
T |
C |
2: 84,853,896 (GRCm39) |
N139S |
probably benign |
Het |
| Pcdha11 |
T |
A |
18: 37,145,260 (GRCm39) |
N450K |
probably damaging |
Het |
| Phb1 |
T |
C |
11: 95,566,034 (GRCm39) |
I106T |
possibly damaging |
Het |
| Phyhipl |
C |
A |
10: 70,406,720 (GRCm39) |
R78L |
possibly damaging |
Het |
| Pmfbp1 |
A |
G |
8: 110,246,932 (GRCm39) |
D268G |
probably damaging |
Het |
| Pramel39-ps |
G |
T |
5: 94,451,001 (GRCm39) |
P375H |
probably damaging |
Het |
| Rcbtb2 |
C |
A |
14: 73,411,936 (GRCm39) |
H408Q |
probably damaging |
Het |
| Sptbn1 |
A |
T |
11: 30,096,803 (GRCm39) |
V271E |
probably damaging |
Het |
| Sptlc3 |
T |
A |
2: 139,408,605 (GRCm39) |
V240E |
probably benign |
Het |
| Stat4 |
A |
G |
1: 52,146,073 (GRCm39) |
N742S |
probably benign |
Het |
| Tas2r118 |
T |
A |
6: 23,969,617 (GRCm39) |
Y148F |
probably benign |
Het |
| Trmt5 |
G |
T |
12: 73,331,568 (GRCm39) |
Q163K |
probably benign |
Het |
| Ube2d1 |
T |
A |
10: 71,097,925 (GRCm39) |
I37F |
probably damaging |
Het |
| Vmn1r43 |
G |
A |
6: 89,846,877 (GRCm39) |
T203M |
probably damaging |
Het |
| Vps13b |
C |
T |
15: 35,841,479 (GRCm39) |
P2503L |
probably damaging |
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 |
|
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 |
|
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'- GCCCTGAATGAAAGTCTAACTAGC -3'
(R):5'- TGGAGCTGTGACTGAGTTCC -3'
Sequencing Primer
(F):5'- AGTCTAACTAGCAGATTCTGGTAC -3'
(R):5'- GCTGTGACTGAGTTCCACCCC -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation