Incidental Mutation 'R9427:Mttp'
| ID |
712662 |
| 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: 0.893)
|
| Stock # |
R9427 (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 G
at 137820962 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 282
(S282P)
|
| 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: S282P
PolyPhen 2
Score 0.010 (Sensitivity: 0.96; Specificity: 0.77)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: S282P
| 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: S297P
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: S297P
| 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: 99.6%
- 20x: 98.4%
|
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abtb2 |
T |
C |
2: 103,531,244 (GRCm39) |
L458P |
probably damaging |
Het |
| Adgrl2 |
T |
C |
3: 148,526,068 (GRCm39) |
N130S |
|
Het |
| Adgrv1 |
T |
C |
13: 81,732,234 (GRCm39) |
S161G |
probably benign |
Het |
| Aldh1l1 |
A |
G |
6: 90,536,903 (GRCm39) |
D153G |
probably benign |
Het |
| Arhgap20 |
G |
A |
9: 51,754,991 (GRCm39) |
S444N |
probably damaging |
Het |
| Bpifc |
A |
G |
10: 85,812,129 (GRCm39) |
F360L |
probably benign |
Het |
| Cacna1s |
A |
T |
1: 136,012,090 (GRCm39) |
I511F |
probably benign |
Het |
| Chdh |
G |
A |
14: 29,758,806 (GRCm39) |
V584I |
probably benign |
Het |
| Col12a1 |
T |
C |
9: 79,589,445 (GRCm39) |
R1037G |
probably benign |
Het |
| Col15a1 |
G |
C |
4: 47,288,200 (GRCm39) |
|
probably benign |
Het |
| Col6a5 |
T |
C |
9: 105,816,992 (GRCm39) |
N440D |
unknown |
Het |
| Dsel |
A |
T |
1: 111,787,425 (GRCm39) |
Y1037N |
probably damaging |
Het |
| Eloa |
A |
G |
4: 135,748,935 (GRCm39) |
M1T |
probably null |
Het |
| Elp2 |
C |
G |
18: 24,755,560 (GRCm39) |
P436A |
probably damaging |
Het |
| Etv5 |
A |
C |
16: 22,218,112 (GRCm39) |
S328A |
probably damaging |
Het |
| Fat3 |
A |
T |
9: 16,288,691 (GRCm39) |
Y277* |
probably null |
Het |
| Fbxo38 |
A |
T |
18: 62,644,160 (GRCm39) |
H899Q |
probably benign |
Het |
| Fstl5 |
T |
C |
3: 76,229,583 (GRCm39) |
V128A |
|
Het |
| Gm3371 |
T |
C |
14: 44,641,066 (GRCm39) |
E166G |
|
Het |
| Herc6 |
T |
C |
6: 57,636,722 (GRCm39) |
S813P |
probably damaging |
Het |
| Ifnlr1 |
G |
A |
4: 135,426,142 (GRCm39) |
G75D |
probably damaging |
Het |
| Kbtbd2 |
A |
T |
6: 56,756,132 (GRCm39) |
C535S |
probably damaging |
Het |
| Lgr5 |
A |
C |
10: 115,288,913 (GRCm39) |
L577W |
probably damaging |
Het |
| Limk1 |
A |
T |
5: 134,686,358 (GRCm39) |
D590E |
probably benign |
Het |
| Lnpep |
A |
T |
17: 17,795,609 (GRCm39) |
S301T |
probably benign |
Het |
| Lrch1 |
A |
C |
14: 75,032,787 (GRCm39) |
V521G |
probably benign |
Het |
| Lrrc71 |
T |
C |
3: 87,650,368 (GRCm39) |
H235R |
probably benign |
Het |
| Nup210l |
C |
T |
3: 90,107,173 (GRCm39) |
P1570L |
probably benign |
Het |
| Or2t1 |
G |
A |
14: 14,328,456 (GRCm38) |
G115D |
probably damaging |
Het |
| Or55b10 |
T |
A |
7: 102,143,206 (GRCm39) |
T259S |
probably benign |
Het |
| Or5a3 |
T |
C |
19: 12,399,889 (GRCm39) |
V72A |
|
Het |
| Or5m13 |
T |
C |
2: 85,748,704 (GRCm39) |
V145A |
probably benign |
Het |
| Or7a41 |
C |
T |
10: 78,871,395 (GRCm39) |
T255I |
probably damaging |
Het |
| Or7c70 |
A |
G |
10: 78,682,906 (GRCm39) |
V281A |
probably damaging |
Het |
| Pira12 |
T |
G |
7: 3,897,284 (GRCm39) |
|
probably null |
Het |
| Ppfia3 |
T |
C |
7: 45,008,213 (GRCm39) |
Q219R |
possibly damaging |
Het |
| Prdm5 |
T |
A |
6: 65,771,321 (GRCm39) |
M44K |
possibly damaging |
Het |
| Psmc5 |
T |
C |
11: 106,153,303 (GRCm39) |
I315T |
probably damaging |
Het |
| Ptprd |
T |
A |
4: 76,051,440 (GRCm39) |
E27V |
probably benign |
Het |
| Rft1 |
T |
A |
14: 30,411,781 (GRCm39) |
I443N |
probably damaging |
Het |
| Rsf1 |
G |
GACGGCGGCC |
7: 97,229,116 (GRCm39) |
|
probably benign |
Het |
| Slco1a5 |
A |
G |
6: 142,214,001 (GRCm39) |
M40T |
probably damaging |
Het |
| Svep1 |
T |
C |
4: 58,069,804 (GRCm39) |
T2661A |
possibly damaging |
Het |
| Tigit |
T |
C |
16: 43,482,515 (GRCm39) |
D73G |
probably benign |
Het |
| Tmem237 |
G |
A |
1: 59,159,213 (GRCm39) |
|
probably benign |
Het |
| Trim42 |
T |
C |
9: 97,247,874 (GRCm39) |
D274G |
probably damaging |
Het |
| Trmt61a |
C |
A |
12: 111,647,490 (GRCm39) |
L196I |
probably damaging |
Het |
| Tspan8 |
T |
C |
10: 115,669,213 (GRCm39) |
C83R |
probably damaging |
Het |
| Ttc7 |
CCTGCTGCTGCTGCTGCTG |
CCTGCTGCTGCTGCTG |
17: 87,678,147 (GRCm39) |
|
probably benign |
Het |
| Ttn |
C |
T |
2: 76,715,357 (GRCm39) |
E7912K |
unknown |
Het |
| Unc80 |
G |
A |
1: 66,594,158 (GRCm39) |
G1179E |
probably damaging |
Het |
| Vmn2r2 |
A |
G |
3: 64,041,945 (GRCm39) |
S257P |
probably damaging |
Het |
| Xpo6 |
G |
T |
7: 125,748,418 (GRCm39) |
Y404* |
probably null |
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 |
|
R9237:Mttp
|
UTSW |
3 |
137,810,444 (GRCm39) |
missense |
probably benign |
|
|
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'- AACTAGCAATTACCTCTGCTGC -3'
(R):5'- GTGTTCTCTGAAAGAGTTGCAG -3'
Sequencing Primer
(F):5'- TAGCAATTACCTCTGCTGCAGAAAG -3'
(R):5'- TCTCTGAAAGAGTTGCAGTTTTAG -3'
|
| Posted On |
2022-05-16 |
Incidental Mutation