Incidental Mutation 'R9233:Mttp'
| ID |
700338 |
| 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 # |
R9233 (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 A
at 137822280 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Valine
at position 169
(D169V)
|
| 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: D169V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: D169V
| 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: D184V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: D184V
| 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: 99.8%
- 20x: 99.3%
|
| 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: 69 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca6 |
G |
T |
11: 110,082,496 (GRCm39) |
T1159K |
probably benign |
Het |
| Acap1 |
A |
G |
11: 69,775,484 (GRCm39) |
V479A |
probably benign |
Het |
| Actl11 |
A |
G |
9: 107,807,900 (GRCm39) |
E741G |
possibly damaging |
Het |
| Anp32b |
A |
T |
4: 46,463,909 (GRCm39) |
I103F |
probably damaging |
Het |
| Ap4m1 |
C |
T |
5: 138,176,653 (GRCm39) |
R418* |
probably null |
Het |
| Asic3 |
G |
A |
5: 24,618,837 (GRCm39) |
R43H |
probably damaging |
Het |
| Bsn |
A |
G |
9: 107,994,289 (GRCm39) |
V662A |
probably benign |
Het |
| Cacna1a |
C |
T |
8: 85,271,283 (GRCm39) |
R479C |
probably damaging |
Het |
| Chchd3 |
A |
T |
6: 32,780,845 (GRCm39) |
C214S |
probably damaging |
Het |
| Cspg4b |
A |
T |
13: 113,502,754 (GRCm39) |
Y100F |
|
Het |
| Dock9 |
T |
A |
14: 121,820,781 (GRCm39) |
T1538S |
probably benign |
Het |
| Dyrk1a |
A |
G |
16: 94,466,913 (GRCm39) |
M156V |
probably benign |
Het |
| Dzip1 |
T |
C |
14: 119,124,635 (GRCm39) |
Q546R |
probably benign |
Het |
| Eef2 |
T |
C |
10: 81,014,668 (GRCm39) |
V185A |
probably benign |
Het |
| Etv4 |
A |
C |
11: 101,662,532 (GRCm39) |
V314G |
probably damaging |
Het |
| F5 |
T |
A |
1: 164,047,020 (GRCm39) |
I2160N |
probably damaging |
Het |
| Fbp2 |
A |
T |
13: 62,989,622 (GRCm39) |
V228E |
possibly damaging |
Het |
| Fcgbpl1 |
A |
G |
7: 27,839,519 (GRCm39) |
Y444C |
possibly damaging |
Het |
| Fhip2a |
T |
A |
19: 57,369,098 (GRCm39) |
F360L |
probably damaging |
Het |
| Gcc1 |
A |
G |
6: 28,418,710 (GRCm39) |
L541P |
probably damaging |
Het |
| Gemin4 |
A |
G |
11: 76,103,942 (GRCm39) |
I273T |
possibly damaging |
Het |
| Gm32742 |
T |
C |
9: 51,056,387 (GRCm39) |
K1193E |
possibly damaging |
Het |
| Gmps |
C |
T |
3: 63,924,133 (GRCm39) |
P687L |
probably damaging |
Het |
| Gpr162 |
A |
G |
6: 124,836,014 (GRCm39) |
L462P |
possibly damaging |
Het |
| Hps4 |
G |
A |
5: 112,525,905 (GRCm39) |
S642N |
possibly damaging |
Het |
| Hspa12b |
T |
C |
2: 130,976,036 (GRCm39) |
Y13H |
probably damaging |
Het |
| Kcnh8 |
A |
C |
17: 53,285,168 (GRCm39) |
E1046A |
probably damaging |
Het |
| Kcnk12 |
T |
A |
17: 88,053,538 (GRCm39) |
T375S |
probably benign |
Het |
| Kdm4a |
A |
G |
4: 118,004,193 (GRCm39) |
|
probably null |
Het |
| Klhl5 |
G |
T |
5: 65,300,673 (GRCm39) |
V219L |
possibly damaging |
Het |
| Kpna1 |
A |
T |
16: 35,853,793 (GRCm39) |
E474D |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,840,502 (GRCm39) |
Y632* |
probably null |
Het |
| Lias |
A |
G |
5: 65,551,331 (GRCm39) |
N88S |
probably benign |
Het |
| Mei1 |
C |
T |
15: 81,973,752 (GRCm39) |
R80C |
|
Het |
| Mical2 |
T |
G |
7: 111,981,399 (GRCm39) |
S458A |
probably benign |
Het |
| Mrps33 |
A |
G |
6: 39,782,447 (GRCm39) |
S25P |
probably benign |
Het |
| Npdc1 |
A |
G |
2: 25,296,329 (GRCm39) |
E72G |
probably damaging |
Het |
| Nsrp1 |
G |
A |
11: 76,937,036 (GRCm39) |
R387W |
probably benign |
Het |
| Pcnx4 |
A |
G |
12: 72,603,587 (GRCm39) |
T503A |
possibly damaging |
Het |
| Peg10 |
CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG |
CCACATCAGGATCCACATCAGGATGCACATCAG |
6: 4,756,398 (GRCm39) |
|
probably benign |
Het |
| Pigu |
C |
T |
2: 155,178,610 (GRCm39) |
V83I |
possibly damaging |
Het |
| Ppcs |
G |
A |
4: 119,279,397 (GRCm39) |
R52* |
probably null |
Het |
| Rbm33 |
A |
G |
5: 28,544,239 (GRCm39) |
E165G |
probably benign |
Het |
| Rnf5 |
A |
T |
17: 34,822,326 (GRCm39) |
V41E |
possibly damaging |
Het |
| Ror2 |
T |
C |
13: 53,265,590 (GRCm39) |
T501A |
probably benign |
Het |
| Rps17 |
T |
G |
7: 80,993,497 (GRCm39) |
M105L |
probably benign |
Het |
| Ryr2 |
A |
T |
13: 11,610,772 (GRCm39) |
M4018K |
possibly damaging |
Het |
| Scarf1 |
A |
G |
11: 75,416,720 (GRCm39) |
M721V |
probably benign |
Het |
| Scgb1b30 |
A |
G |
7: 33,799,184 (GRCm39) |
T39A |
probably damaging |
Het |
| Selenoo |
T |
C |
15: 88,984,044 (GRCm39) |
V620A |
probably damaging |
Het |
| Slfn8 |
A |
C |
11: 82,894,422 (GRCm39) |
I739R |
probably damaging |
Het |
| Smc6 |
A |
G |
12: 11,359,291 (GRCm39) |
T972A |
probably benign |
Het |
| Spred1 |
G |
A |
2: 117,002,644 (GRCm39) |
R221H |
unknown |
Het |
| Stag1 |
T |
A |
9: 100,812,024 (GRCm39) |
M834K |
probably benign |
Het |
| Taf1a |
T |
C |
1: 183,181,878 (GRCm39) |
I177T |
possibly damaging |
Het |
| Tcam1 |
G |
A |
11: 106,175,018 (GRCm39) |
D158N |
probably benign |
Het |
| Tcirg1 |
G |
T |
19: 3,952,543 (GRCm39) |
T275K |
probably damaging |
Het |
| Tmco1 |
C |
T |
1: 167,136,132 (GRCm39) |
|
probably benign |
Het |
| Tor1b |
A |
C |
2: 30,844,015 (GRCm39) |
I151L |
probably benign |
Het |
| Trappc12 |
T |
A |
12: 28,772,414 (GRCm39) |
Q471L |
possibly damaging |
Het |
| Trim28 |
G |
A |
7: 12,763,490 (GRCm39) |
A544T |
probably benign |
Het |
| Ugt2a2 |
G |
A |
5: 87,613,272 (GRCm39) |
P288S |
probably damaging |
Het |
| Vmn1r157 |
T |
C |
7: 22,461,381 (GRCm39) |
L87P |
probably damaging |
Het |
| Vmn1r188 |
A |
G |
13: 22,272,399 (GRCm39) |
R118G |
probably benign |
Het |
| Vps13d |
G |
A |
4: 144,879,344 (GRCm39) |
T1493I |
|
Het |
| Xrra1 |
T |
G |
7: 99,516,574 (GRCm39) |
M6R |
probably benign |
Het |
| Zfp142 |
T |
C |
1: 74,610,288 (GRCm39) |
E1169G |
probably benign |
Het |
| Zfp738 |
G |
T |
13: 67,819,017 (GRCm39) |
R325S |
possibly damaging |
Het |
| Zmym4 |
A |
G |
4: 126,776,310 (GRCm39) |
M1209T |
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 |
|
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'- TGGCGCTTGTAAGGACAAAG -3'
(R):5'- AGACAGTGAAATTTGGCATCCTG -3'
Sequencing Primer
(F):5'- GCGCTTGTAAGGACAAAGATTTCC -3'
(R):5'- TGGCATCCTGTAAAAAGCCTTCG -3'
|
| Posted On |
2022-02-07 |
Incidental Mutation