Incidental Mutation 'R0738:Mttp'
| ID |
70563 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| MMRRC Submission |
038919-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R0738 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 137809074 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 678
(V678A)
|
| 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: V663A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: V663A
| 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: V678A
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: V678A
| 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
|
| Meta Mutation Damage Score |
0.4144 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 96.6%
- 20x: 92.3%
|
| Validation Efficiency |
98% (46/47) |
| 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 |
|---|
| A930011G23Rik |
A |
T |
5: 99,388,812 (GRCm39) |
M189K |
probably benign |
Het |
| Ank1 |
A |
T |
8: 23,604,130 (GRCm39) |
E964D |
probably damaging |
Het |
| Ankhd1 |
A |
G |
18: 36,778,302 (GRCm39) |
|
probably benign |
Het |
| Cd9 |
G |
T |
6: 125,439,103 (GRCm39) |
Q169K |
probably benign |
Het |
| Cdc42bpa |
T |
A |
1: 179,827,027 (GRCm39) |
|
probably benign |
Het |
| Ch25h |
T |
C |
19: 34,451,787 (GRCm39) |
N247S |
possibly damaging |
Het |
| Dctn1 |
T |
C |
6: 83,167,089 (GRCm39) |
|
probably null |
Het |
| Defa22 |
C |
T |
8: 21,652,391 (GRCm39) |
T19I |
probably benign |
Het |
| Dscam |
T |
C |
16: 96,620,981 (GRCm39) |
N576D |
possibly damaging |
Het |
| Epha3 |
T |
C |
16: 63,415,975 (GRCm39) |
M675V |
probably damaging |
Het |
| Fam241a |
C |
A |
3: 127,664,442 (GRCm39) |
A120S |
possibly damaging |
Het |
| Fkbp8 |
T |
A |
8: 70,982,320 (GRCm39) |
I86N |
probably damaging |
Het |
| Herc4 |
C |
T |
10: 63,124,928 (GRCm39) |
P514L |
possibly damaging |
Het |
| Ide |
A |
T |
19: 37,255,364 (GRCm39) |
L813* |
probably null |
Het |
| Igkv12-41 |
G |
A |
6: 69,835,675 (GRCm39) |
Q26* |
probably null |
Het |
| Itsn2 |
T |
C |
12: 4,685,681 (GRCm39) |
V483A |
probably benign |
Het |
| Kcp |
A |
T |
6: 29,490,438 (GRCm39) |
I1002N |
probably benign |
Het |
| Lrfn5 |
G |
T |
12: 61,887,378 (GRCm39) |
E389* |
probably null |
Het |
| Lrp6 |
G |
T |
6: 134,519,008 (GRCm39) |
A19E |
probably benign |
Het |
| Mad1l1 |
A |
G |
5: 140,286,315 (GRCm39) |
L228P |
probably damaging |
Het |
| Map2 |
T |
C |
1: 66,464,348 (GRCm39) |
|
probably benign |
Het |
| Med13l |
T |
A |
5: 118,889,698 (GRCm39) |
Y1820N |
probably damaging |
Het |
| Mgam |
A |
G |
6: 40,731,869 (GRCm39) |
N735S |
probably benign |
Het |
| Mid2 |
A |
G |
X: 139,664,425 (GRCm39) |
Y618C |
probably damaging |
Het |
| Mllt11 |
G |
A |
3: 95,127,597 (GRCm39) |
Q58* |
probably null |
Het |
| Nfatc1 |
A |
G |
18: 80,741,125 (GRCm39) |
S278P |
probably damaging |
Het |
| Ninj2 |
A |
G |
6: 120,175,098 (GRCm39) |
|
probably benign |
Het |
| Nsd3 |
T |
A |
8: 26,168,725 (GRCm39) |
|
probably null |
Het |
| Or5b102 |
A |
T |
19: 13,041,102 (GRCm39) |
E109V |
probably damaging |
Het |
| Or8c17 |
T |
C |
9: 38,180,421 (GRCm39) |
V204A |
possibly damaging |
Het |
| Pcdhb4 |
A |
G |
18: 37,441,764 (GRCm39) |
N358S |
probably damaging |
Het |
| Plch1 |
T |
C |
3: 63,609,974 (GRCm39) |
|
probably benign |
Het |
| Popdc3 |
T |
C |
10: 45,191,354 (GRCm39) |
L155P |
probably damaging |
Het |
| Ptpro |
T |
A |
6: 137,420,592 (GRCm39) |
V1007D |
probably damaging |
Het |
| Rbm26 |
A |
T |
14: 105,414,218 (GRCm39) |
I24N |
unknown |
Het |
| Rc3h2 |
T |
A |
2: 37,295,386 (GRCm39) |
D210V |
probably damaging |
Het |
| Samd1 |
CGAGGAGGAGGAGGAGGAGGA |
CGAGGAGGAGGAGGAGGA |
8: 84,725,625 (GRCm39) |
|
probably benign |
Het |
| Spopl |
T |
C |
2: 23,427,533 (GRCm39) |
T200A |
probably benign |
Het |
| Tarbp1 |
A |
G |
8: 127,165,540 (GRCm39) |
|
probably null |
Het |
| Thnsl1 |
T |
A |
2: 21,218,173 (GRCm39) |
H121Q |
probably damaging |
Het |
| Tll1 |
T |
C |
8: 64,554,984 (GRCm39) |
D233G |
probably damaging |
Het |
| Vmn2r27 |
A |
T |
6: 124,200,661 (GRCm39) |
V432E |
possibly damaging |
Het |
| Wdr5 |
T |
C |
2: 27,409,424 (GRCm39) |
S49P |
probably damaging |
Het |
| Zfyve26 |
A |
T |
12: 79,342,308 (GRCm39) |
I46N |
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 |
|
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 |
|
|
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'- TAAGCCCTTTCACCACGCTGAC -3'
(R):5'- TGGGGAAAGTAACTGAGCACCACC -3'
Sequencing Primer
(F):5'- ACCACGCTGACAGGGTC -3'
(R):5'- caaggactcaaagccccac -3'
|
| Posted On |
2013-09-30 |
Incidental Mutation