Incidental Mutation 'R1660:Mttp'
| ID |
186647 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| MMRRC Submission |
039696-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.885)
|
| Stock # |
R1660 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 137808954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Aspartic acid
at position 718
(V718D)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
| AlphaFold |
O08601 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000029805
AA Change: V703D
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: V703D
| 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: V718D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: V718D
| 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 |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000196625
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.9%
|
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A1cf |
C |
A |
19: 31,870,507 (GRCm39) |
S3* |
probably null |
Het |
| Adgrv1 |
C |
T |
13: 81,624,750 (GRCm39) |
V3740I |
probably benign |
Het |
| Aida |
T |
C |
1: 183,079,127 (GRCm39) |
F22S |
probably damaging |
Het |
| Ankrd65 |
A |
T |
4: 155,876,528 (GRCm39) |
D220V |
probably damaging |
Het |
| Antxr2 |
A |
T |
5: 98,123,209 (GRCm39) |
C279* |
probably null |
Het |
| Ap3b1 |
T |
C |
13: 94,545,320 (GRCm39) |
V191A |
probably damaging |
Het |
| Arhgef28 |
T |
C |
13: 98,117,884 (GRCm39) |
K595E |
probably benign |
Het |
| Atp12a |
A |
G |
14: 56,608,305 (GRCm39) |
T98A |
probably benign |
Het |
| Cdcp1 |
A |
T |
9: 123,014,427 (GRCm39) |
S116T |
probably benign |
Het |
| Chrm1 |
T |
C |
19: 8,656,582 (GRCm39) |
F429S |
possibly damaging |
Het |
| Ckap5 |
C |
A |
2: 91,393,303 (GRCm39) |
Q395K |
possibly damaging |
Het |
| Cntn4 |
T |
A |
6: 106,656,258 (GRCm39) |
I853K |
probably benign |
Het |
| Cyp2g1 |
G |
A |
7: 26,509,107 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
C |
T |
17: 80,553,157 (GRCm39) |
V1257I |
possibly damaging |
Het |
| Disp1 |
A |
T |
1: 182,869,306 (GRCm39) |
V1038D |
probably damaging |
Het |
| Dmxl2 |
A |
T |
9: 54,358,314 (GRCm39) |
S462T |
possibly damaging |
Het |
| Dnaaf10 |
A |
T |
11: 17,177,183 (GRCm39) |
E180D |
probably benign |
Het |
| Exoc3l |
A |
G |
8: 106,019,692 (GRCm39) |
|
probably null |
Het |
| Fam210a |
T |
C |
18: 68,409,167 (GRCm39) |
T48A |
probably benign |
Het |
| Fbxw5 |
G |
A |
2: 25,393,286 (GRCm39) |
|
probably null |
Het |
| Fkbp9 |
T |
C |
6: 56,850,434 (GRCm39) |
C437R |
probably damaging |
Het |
| Gpc5 |
A |
G |
14: 115,636,691 (GRCm39) |
K458R |
probably benign |
Het |
| Grik2 |
C |
A |
10: 49,120,439 (GRCm39) |
G56* |
probably null |
Het |
| Igsf10 |
T |
C |
3: 59,238,706 (GRCm39) |
T492A |
probably damaging |
Het |
| Kif1c |
C |
T |
11: 70,619,223 (GRCm39) |
L953F |
probably damaging |
Het |
| Lrrc51 |
T |
C |
7: 101,562,645 (GRCm39) |
Y145C |
probably damaging |
Het |
| Lsmem1 |
GTACATACATACATACATACATACATACA |
GTACATACATACATACATACATACATACATACA |
12: 40,235,260 (GRCm39) |
|
probably null |
Het |
| Mapkbp1 |
A |
T |
2: 119,849,029 (GRCm39) |
I682F |
possibly damaging |
Het |
| Myt1l |
T |
A |
12: 29,945,272 (GRCm39) |
D1012E |
unknown |
Het |
| Nbn |
G |
A |
4: 15,971,771 (GRCm39) |
G301D |
probably benign |
Het |
| Ncstn |
T |
A |
1: 171,894,339 (GRCm39) |
S677C |
possibly damaging |
Het |
| Nod1 |
C |
A |
6: 54,921,218 (GRCm39) |
|
probably null |
Het |
| Nos1ap |
A |
G |
1: 170,342,206 (GRCm39) |
V52A |
possibly damaging |
Het |
| Or51f2 |
T |
G |
7: 102,526,863 (GRCm39) |
Y179D |
probably damaging |
Het |
| Or52z14 |
T |
A |
7: 103,252,882 (GRCm39) |
L7* |
probably null |
Het |
| Or5b98 |
T |
A |
19: 12,931,055 (GRCm39) |
I34N |
probably damaging |
Het |
| Or5h23 |
T |
A |
16: 58,906,706 (GRCm39) |
I47F |
probably benign |
Het |
| Phf13 |
T |
C |
4: 152,076,962 (GRCm39) |
I77V |
probably benign |
Het |
| Pias2 |
A |
G |
18: 77,207,825 (GRCm39) |
K230E |
probably damaging |
Het |
| Poli |
A |
G |
18: 70,642,535 (GRCm39) |
L469P |
probably damaging |
Het |
| Prag1 |
A |
T |
8: 36,607,177 (GRCm39) |
T973S |
possibly damaging |
Het |
| Prpf40b |
C |
A |
15: 99,203,442 (GRCm39) |
H101Q |
probably damaging |
Het |
| Prss50 |
T |
C |
9: 110,691,557 (GRCm39) |
V287A |
possibly damaging |
Het |
| Rbm25 |
C |
T |
12: 83,714,924 (GRCm39) |
|
probably benign |
Het |
| Rcor2 |
T |
C |
19: 7,246,337 (GRCm39) |
V4A |
probably damaging |
Het |
| Rnf180 |
T |
C |
13: 105,407,499 (GRCm39) |
T17A |
probably benign |
Het |
| Robo3 |
A |
T |
9: 37,340,440 (GRCm39) |
V179E |
probably damaging |
Het |
| Sacs |
T |
A |
14: 61,446,458 (GRCm39) |
S2835T |
probably damaging |
Het |
| Serpinb3c |
T |
A |
1: 107,199,432 (GRCm39) |
H363L |
probably damaging |
Het |
| Setd1a |
T |
C |
7: 127,395,841 (GRCm39) |
|
probably benign |
Het |
| Skp2 |
A |
C |
15: 9,125,201 (GRCm39) |
V126G |
probably benign |
Het |
| Snph |
G |
A |
2: 151,436,398 (GRCm39) |
Q108* |
probably null |
Het |
| Snrpa1 |
T |
A |
7: 65,719,246 (GRCm39) |
V144E |
probably damaging |
Het |
| Tifab |
T |
C |
13: 56,324,248 (GRCm39) |
E65G |
probably damaging |
Het |
| Tmem201 |
A |
T |
4: 149,804,032 (GRCm39) |
Y468N |
probably damaging |
Het |
| Tpcn1 |
T |
C |
5: 120,687,580 (GRCm39) |
N388S |
possibly damaging |
Het |
| Tssk4 |
A |
G |
14: 55,888,029 (GRCm39) |
Q75R |
probably null |
Het |
| Tuba4a |
T |
C |
1: 75,192,547 (GRCm39) |
N356D |
probably benign |
Het |
| Ugt2b5 |
T |
A |
5: 87,287,477 (GRCm39) |
D230V |
probably benign |
Het |
| Ush2a |
T |
C |
1: 188,648,261 (GRCm39) |
V4622A |
probably benign |
Het |
| Vmn2r11 |
T |
G |
5: 109,201,724 (GRCm39) |
Y260S |
possibly damaging |
Het |
| Vmn2r89 |
C |
A |
14: 51,693,693 (GRCm39) |
H348N |
possibly damaging |
Het |
| Vmn2r96 |
A |
T |
17: 18,817,988 (GRCm39) |
M714L |
probably benign |
Het |
| Zbtb18 |
T |
C |
1: 177,275,329 (GRCm39) |
S221P |
probably benign |
Het |
| Zfp418 |
A |
G |
7: 7,184,789 (GRCm39) |
T251A |
probably benign |
Het |
| Zmynd15 |
A |
G |
11: 70,354,328 (GRCm39) |
Y267C |
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 |
|
|
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 |
|
|
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'- TCCAACATGTACACATGCGAGTGAG -3'
(R):5'- TGGGGAAAGTAACTGAGCACCACC -3'
Sequencing Primer
(F):5'- ACATGCGAGTGAGCACAC -3'
(R):5'- caaggactcaaagccccac -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation