Incidental Mutation 'R8536:Mttp'
| ID |
659232 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| MMRRC Submission |
067890-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
R8536 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 137810704 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Cysteine
at position 637
(R637C)
|
| 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: R622C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: R622C
| 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: R637C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: R637C
| 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: 100.0%
- 3x: 100.0%
- 10x: 99.8%
- 20x: 99.3%
|
| Validation Efficiency |
100% (43/43) |
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930505A04Rik |
C |
T |
11: 30,376,217 (GRCm39) |
V217M |
probably benign |
Het |
| Abca4 |
A |
G |
3: 121,973,394 (GRCm39) |
Q1074R |
probably benign |
Het |
| Ablim1 |
T |
C |
19: 57,170,718 (GRCm39) |
|
probably benign |
Het |
| Acox2 |
A |
T |
14: 8,256,081 (GRCm38) |
D79E |
probably benign |
Het |
| Bpifb9b |
A |
G |
2: 154,158,197 (GRCm39) |
I440V |
probably benign |
Het |
| Ccdc7a |
T |
A |
8: 129,516,601 (GRCm39) |
T118S |
possibly damaging |
Het |
| Cntln |
T |
C |
4: 84,875,286 (GRCm39) |
I240T |
probably damaging |
Het |
| Col15a1 |
T |
C |
4: 47,208,536 (GRCm39) |
|
probably null |
Het |
| Cox18 |
A |
G |
5: 90,362,877 (GRCm39) |
F326S |
probably damaging |
Het |
| Dnm1l |
C |
A |
16: 16,176,639 (GRCm39) |
V31L |
probably benign |
Het |
| Dst |
C |
A |
1: 34,236,327 (GRCm39) |
L3578M |
possibly damaging |
Het |
| Fbxw24 |
G |
A |
9: 109,452,599 (GRCm39) |
T132I |
probably damaging |
Het |
| Fchsd1 |
A |
G |
18: 38,100,823 (GRCm39) |
V120A |
probably benign |
Het |
| Fibcd1 |
T |
C |
2: 31,706,643 (GRCm39) |
E396G |
probably damaging |
Het |
| Fryl |
G |
T |
5: 73,257,696 (GRCm39) |
T702K |
probably damaging |
Het |
| Gatb |
A |
T |
3: 85,511,868 (GRCm39) |
I208F |
probably damaging |
Het |
| Gzmd |
T |
C |
14: 56,367,158 (GRCm39) |
I245V |
probably damaging |
Het |
| Lats2 |
G |
A |
14: 57,940,495 (GRCm39) |
A119V |
probably damaging |
Het |
| Lztfl1 |
A |
T |
9: 123,540,119 (GRCm39) |
F129L |
probably benign |
Het |
| Meak7 |
T |
C |
8: 120,490,787 (GRCm39) |
N320S |
probably benign |
Het |
| Mmp2 |
A |
T |
8: 93,557,253 (GRCm39) |
Y53F |
probably damaging |
Het |
| Ndufa8 |
A |
C |
2: 35,939,312 (GRCm39) |
|
probably benign |
Het |
| Nek11 |
A |
T |
9: 105,175,538 (GRCm39) |
M302K |
probably benign |
Het |
| Nek6 |
A |
G |
2: 38,404,797 (GRCm39) |
|
probably null |
Het |
| Numa1 |
C |
T |
7: 101,650,787 (GRCm39) |
A1506V |
probably damaging |
Het |
| Plxdc1 |
A |
T |
11: 97,869,522 (GRCm39) |
|
probably null |
Het |
| Poteg |
C |
A |
8: 27,938,048 (GRCm39) |
T6K |
probably benign |
Het |
| Rbm26 |
A |
T |
14: 105,380,274 (GRCm39) |
N514K |
possibly damaging |
Het |
| Rnf145 |
T |
C |
11: 44,450,942 (GRCm39) |
L422P |
probably damaging |
Het |
| Scn5a |
G |
T |
9: 119,368,811 (GRCm39) |
T238K |
probably damaging |
Het |
| Shd |
G |
A |
17: 56,283,315 (GRCm39) |
A315T |
probably damaging |
Het |
| Sirpd |
A |
G |
3: 15,361,614 (GRCm39) |
*179R |
probably null |
Het |
| Slco5a1 |
T |
G |
1: 12,951,525 (GRCm39) |
T593P |
possibly damaging |
Het |
| Stard9 |
G |
A |
2: 120,545,140 (GRCm39) |
R4560H |
possibly damaging |
Het |
| Traf3ip3 |
C |
T |
1: 192,876,823 (GRCm39) |
|
probably null |
Het |
| Trpm1 |
G |
C |
7: 63,897,155 (GRCm39) |
K252N |
probably damaging |
Het |
| Ttc7b |
A |
T |
12: 100,339,803 (GRCm39) |
I584K |
possibly damaging |
Het |
| Vmn1r218 |
T |
C |
13: 23,321,535 (GRCm39) |
V214A |
probably benign |
Het |
| Wdfy3 |
G |
T |
5: 102,033,064 (GRCm39) |
H2215Q |
probably benign |
Het |
| Wls |
G |
A |
3: 159,578,748 (GRCm39) |
M103I |
probably damaging |
Het |
| Zmat4 |
T |
C |
8: 24,238,523 (GRCm39) |
|
probably null |
Het |
| Zmynd15 |
G |
T |
11: 70,353,387 (GRCm39) |
C334F |
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 |
|
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'- TCAGAATGCCAGAGCCAGAG -3'
(R):5'- AAACACCGGGGATTTGGTTGC -3'
Sequencing Primer
(F):5'- CTGTATGTGGACGCTGCAC -3'
(R):5'- GCATTCCCGATTTGATCTGGG -3'
|
| Posted On |
2021-01-18 |
Incidental Mutation