Incidental Mutation 'R6920:Mttp'
| ID |
539563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| MMRRC Submission |
045040-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R6920 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137821043 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 270
(K270E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
| AlphaFold |
O08601 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000029805
AA Change: K255E
PolyPhen 2
Score 0.292 (Sensitivity: 0.91; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: K255E
| 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 |
possibly damaging
Transcript: ENSMUST00000098580
AA Change: K270E
PolyPhen 2
Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: K270E
| 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: 99.1%
- 20x: 97.2%
|
| Validation Efficiency |
100% (65/65) |
| 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: 65 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1110002E22Rik |
A |
T |
3: 137,773,811 (GRCm39) |
Y1000F |
probably damaging |
Het |
| 1700018B08Rik |
A |
G |
8: 122,262,160 (GRCm39) |
|
probably null |
Het |
| Aadat |
T |
C |
8: 60,982,467 (GRCm39) |
F245L |
probably damaging |
Het |
| Adcy10 |
T |
G |
1: 165,403,227 (GRCm39) |
L1575W |
probably damaging |
Het |
| Anks4b |
A |
T |
7: 119,782,231 (GRCm39) |
T421S |
probably damaging |
Het |
| Anpep |
A |
T |
7: 79,475,097 (GRCm39) |
I155N |
probably damaging |
Het |
| Arnt |
T |
C |
3: 95,397,932 (GRCm39) |
F572L |
probably damaging |
Het |
| Brip1 |
G |
A |
11: 86,039,362 (GRCm39) |
Q391* |
probably null |
Het |
| Brpf3 |
C |
A |
17: 29,042,970 (GRCm39) |
H1004N |
probably benign |
Het |
| Cand2 |
T |
A |
6: 115,768,250 (GRCm39) |
V465D |
possibly damaging |
Het |
| Card10 |
G |
T |
15: 78,686,609 (GRCm39) |
Y69* |
probably null |
Het |
| Catsperd |
A |
T |
17: 56,962,175 (GRCm39) |
K450* |
probably null |
Het |
| Ccdc137 |
T |
C |
11: 120,351,009 (GRCm39) |
L137P |
probably damaging |
Het |
| Cic |
T |
C |
7: 24,990,107 (GRCm39) |
S1905P |
probably damaging |
Het |
| Csmd3 |
C |
T |
15: 47,507,601 (GRCm39) |
G2971S |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,379,496 (GRCm39) |
Y183H |
probably damaging |
Het |
| Drosha |
T |
C |
15: 12,834,396 (GRCm39) |
Y167H |
unknown |
Het |
| E330034G19Rik |
A |
G |
14: 24,358,310 (GRCm39) |
K214R |
unknown |
Het |
| Fam180a |
T |
G |
6: 35,290,765 (GRCm39) |
I73L |
possibly damaging |
Het |
| Fbxo28 |
G |
T |
1: 182,168,986 (GRCm39) |
H51N |
probably benign |
Het |
| Gm12728 |
T |
G |
4: 105,647,533 (GRCm39) |
|
probably null |
Het |
| Gm973 |
T |
C |
1: 59,591,620 (GRCm39) |
C335R |
possibly damaging |
Het |
| Gpx8 |
A |
G |
13: 113,179,770 (GRCm39) |
V177A |
probably damaging |
Het |
| Hdlbp |
A |
G |
1: 93,340,083 (GRCm39) |
|
probably null |
Het |
| Htt |
T |
G |
5: 35,034,444 (GRCm39) |
Y1972D |
probably null |
Het |
| Igkv6-14 |
T |
C |
6: 70,412,116 (GRCm39) |
Y56C |
possibly damaging |
Het |
| Kcnma1 |
A |
G |
14: 23,576,602 (GRCm39) |
|
probably null |
Het |
| Klc1 |
T |
C |
12: 111,754,019 (GRCm39) |
S105P |
probably damaging |
Het |
| Klhl20 |
T |
C |
1: 160,921,266 (GRCm39) |
D63G |
possibly damaging |
Het |
| Lamc3 |
A |
G |
2: 31,798,701 (GRCm39) |
D469G |
probably damaging |
Het |
| Lrit1 |
G |
C |
14: 36,782,052 (GRCm39) |
V242L |
probably damaging |
Het |
| Mboat4 |
G |
A |
8: 34,591,865 (GRCm39) |
R434H |
probably benign |
Het |
| Muc5ac |
G |
A |
7: 141,347,035 (GRCm39) |
C337Y |
possibly damaging |
Het |
| Nars1 |
A |
G |
18: 64,634,471 (GRCm39) |
V484A |
probably damaging |
Het |
| Noxa1 |
G |
T |
2: 24,981,844 (GRCm39) |
|
probably null |
Het |
| Or14c45 |
A |
G |
7: 86,176,522 (GRCm39) |
T186A |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,786,821 (GRCm39) |
L63H |
probably damaging |
Het |
| Osbpl7 |
G |
A |
11: 96,941,584 (GRCm39) |
G36S |
probably damaging |
Het |
| P4htm |
C |
T |
9: 108,460,812 (GRCm39) |
G220D |
probably benign |
Het |
| Pcdhga7 |
A |
G |
18: 37,848,199 (GRCm39) |
I69V |
probably benign |
Het |
| Pla2g4e |
C |
T |
2: 120,015,795 (GRCm39) |
E250K |
possibly damaging |
Het |
| Plcd4 |
A |
G |
1: 74,604,994 (GRCm39) |
|
probably benign |
Het |
| Ppfia3 |
C |
A |
7: 45,008,231 (GRCm39) |
G213V |
possibly damaging |
Het |
| Ppp1r1a |
A |
G |
15: 103,441,513 (GRCm39) |
S67P |
probably damaging |
Het |
| Prss43 |
T |
C |
9: 110,657,680 (GRCm39) |
F193S |
probably benign |
Het |
| Rfx1 |
A |
G |
8: 84,822,117 (GRCm39) |
Y872C |
probably damaging |
Het |
| Rhot1 |
T |
A |
11: 80,132,921 (GRCm39) |
N218K |
probably benign |
Het |
| Sall1 |
A |
G |
8: 89,757,021 (GRCm39) |
F1028L |
probably damaging |
Het |
| Siglec1 |
G |
A |
2: 130,919,997 (GRCm39) |
Q845* |
probably null |
Het |
| Slc38a9 |
C |
T |
13: 112,838,060 (GRCm39) |
T275I |
possibly damaging |
Het |
| Slc39a4 |
A |
T |
15: 76,497,470 (GRCm39) |
S481T |
probably damaging |
Het |
| Ssr1 |
A |
T |
13: 38,169,998 (GRCm39) |
N191K |
probably damaging |
Het |
| Tenm4 |
A |
T |
7: 96,544,757 (GRCm39) |
S2258C |
probably damaging |
Het |
| Tm7sf3 |
T |
G |
6: 146,507,645 (GRCm39) |
R472S |
possibly damaging |
Het |
| Tmprss11a |
G |
A |
5: 86,576,494 (GRCm39) |
T119M |
probably benign |
Het |
| Traip |
C |
T |
9: 107,838,240 (GRCm39) |
R142* |
probably null |
Het |
| Utrn |
T |
C |
10: 12,626,214 (GRCm39) |
N100D |
probably damaging |
Het |
| Vmn1r74 |
T |
C |
7: 11,581,575 (GRCm39) |
S292P |
probably benign |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,108 (GRCm39) |
I641F |
probably damaging |
Het |
| Vmn2r9 |
T |
A |
5: 108,996,912 (GRCm39) |
Y119F |
possibly damaging |
Het |
| Vmn2r98 |
A |
G |
17: 19,285,510 (GRCm39) |
N110S |
probably damaging |
Het |
| Vwce |
A |
G |
19: 10,642,057 (GRCm39) |
T928A |
probably benign |
Het |
| Zfp608 |
T |
A |
18: 55,121,337 (GRCm39) |
K83N |
probably damaging |
Het |
| Zfp808 |
A |
G |
13: 62,320,982 (GRCm39) |
H737R |
probably benign |
Het |
| Zswim4 |
T |
C |
8: 84,940,714 (GRCm39) |
N795S |
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 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTAGCAATTACCTCTGCTGC -3'
(R):5'- AAACAATGTCGTTGGGGTTCAAG -3'
Sequencing Primer
(F):5'- TAGCAATTACCTCTGCTGCAGAAAG -3'
(R):5'- CAAGGTGTCTCTGGAGATGCC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation