Incidental Mutation 'R8220:Mttp'
ID |
636603 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Mttp
|
Ensembl Gene |
ENSMUSG00000028158 |
Gene Name |
microsomal triglyceride transfer protein |
Synonyms |
1810043K16Rik, MTP |
MMRRC Submission |
067638-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.893)
|
Stock # |
R8220 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
3 |
Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to A
at 137829609 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glycine to Valine
at position 93
(G93V)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000029805
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
AlphaFold |
O08601 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000029805
AA Change: G93V
PolyPhen 2
Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
|
SMART Domains |
Protein: ENSMUSP00000029805 Gene: ENSMUSG00000028158 AA Change: G93V
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 benign
Transcript: ENSMUST00000098580
AA Change: G108V
PolyPhen 2
Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
|
SMART Domains |
Protein: ENSMUSP00000096179 Gene: ENSMUSG00000028158 AA Change: G108V
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: 99.6%
- 20x: 99.1%
|
Validation Efficiency |
100% (78/78) |
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: 80 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310057N15Rik |
A |
T |
16: 88,570,723 (GRCm39) |
C106S |
probably damaging |
Het |
Abca13 |
C |
T |
11: 9,384,299 (GRCm39) |
T3917M |
possibly damaging |
Het |
Abcb8 |
T |
C |
5: 24,611,783 (GRCm39) |
I533T |
possibly damaging |
Het |
Becn1 |
C |
T |
11: 101,187,105 (GRCm39) |
R78Q |
possibly damaging |
Het |
Bhlha9 |
T |
C |
11: 76,563,703 (GRCm39) |
I110T |
probably damaging |
Het |
Cemip |
T |
C |
7: 83,596,368 (GRCm39) |
D1132G |
probably damaging |
Het |
Cyth3 |
T |
A |
5: 143,687,344 (GRCm39) |
|
probably null |
Het |
Dcpp2 |
A |
G |
17: 24,119,666 (GRCm39) |
E160G |
possibly damaging |
Het |
Dock10 |
C |
T |
1: 80,506,366 (GRCm39) |
G1726S |
probably null |
Het |
Dsel |
T |
C |
1: 111,789,437 (GRCm39) |
D366G |
probably damaging |
Het |
Ednrb |
A |
T |
14: 104,059,141 (GRCm39) |
L295Q |
probably damaging |
Het |
Etaa1 |
C |
T |
11: 17,895,690 (GRCm39) |
R809K |
probably benign |
Het |
Fahd1 |
A |
G |
17: 25,068,864 (GRCm39) |
L71P |
probably damaging |
Het |
Fat1 |
A |
G |
8: 45,492,993 (GRCm39) |
E3882G |
probably null |
Het |
Frem2 |
A |
T |
3: 53,563,928 (GRCm39) |
L193* |
probably null |
Het |
Gba2 |
T |
G |
4: 43,568,510 (GRCm39) |
D652A |
probably damaging |
Het |
Gm5460 |
C |
T |
14: 33,767,876 (GRCm39) |
P220S |
probably damaging |
Het |
Gm7137 |
A |
T |
10: 77,623,785 (GRCm39) |
C84S |
unknown |
Het |
Gm8122 |
G |
T |
14: 43,090,174 (GRCm39) |
|
probably null |
Het |
H1f4 |
T |
C |
13: 23,805,922 (GRCm39) |
S187G |
probably benign |
Het |
Hyal5 |
A |
T |
6: 24,876,879 (GRCm39) |
I251L |
probably benign |
Het |
Igf2r |
A |
T |
17: 12,910,958 (GRCm39) |
S1953R |
probably benign |
Het |
Igkc |
C |
A |
6: 70,703,666 (GRCm39) |
N82K |
|
Het |
Il18 |
T |
A |
9: 50,486,616 (GRCm39) |
M15K |
possibly damaging |
Het |
Insr |
T |
A |
8: 3,208,702 (GRCm39) |
E1253V |
probably benign |
Het |
Itgax |
A |
G |
7: 127,730,090 (GRCm39) |
Q82R |
probably benign |
Het |
Kcnn3 |
A |
G |
3: 89,568,548 (GRCm39) |
I609V |
probably benign |
Het |
Klk14 |
A |
G |
7: 43,343,498 (GRCm39) |
D110G |
probably damaging |
Het |
Lamb3 |
T |
A |
1: 193,016,556 (GRCm39) |
L679Q |
probably damaging |
Het |
Lgsn |
C |
T |
1: 31,235,881 (GRCm39) |
A115V |
probably benign |
Het |
Lipt1 |
C |
T |
1: 37,914,706 (GRCm39) |
T254M |
probably damaging |
Het |
Lrrc3b |
T |
C |
14: 15,358,004 (GRCm38) |
T201A |
probably damaging |
Het |
Lrrc49 |
T |
A |
9: 60,517,613 (GRCm39) |
D432V |
probably benign |
Het |
Meltf |
A |
G |
16: 31,706,233 (GRCm39) |
N239S |
probably benign |
Het |
Mki67 |
G |
A |
7: 135,299,850 (GRCm39) |
A1728V |
probably benign |
Het |
Mms22l |
T |
A |
4: 24,536,375 (GRCm39) |
L615I |
probably damaging |
Het |
Mtcl3 |
C |
T |
10: 29,023,264 (GRCm39) |
Q204* |
probably null |
Het |
Muc4 |
A |
T |
16: 32,575,701 (GRCm39) |
T1734S |
unknown |
Het |
Myh9 |
C |
T |
15: 77,648,747 (GRCm39) |
R1703Q |
possibly damaging |
Het |
N4bp1 |
T |
C |
8: 87,571,315 (GRCm39) |
*894W |
probably null |
Het |
Nab2 |
C |
A |
10: 127,498,645 (GRCm39) |
V475L |
probably benign |
Het |
Nup43 |
C |
T |
10: 7,552,097 (GRCm39) |
A295V |
probably benign |
Het |
Or1af1 |
T |
C |
2: 37,109,791 (GRCm39) |
C97R |
probably benign |
Het |
Or4b12 |
T |
C |
2: 90,096,387 (GRCm39) |
H129R |
probably benign |
Het |
Or7g32 |
G |
T |
9: 19,408,317 (GRCm39) |
S91I |
probably damaging |
Het |
Or8k3 |
C |
T |
2: 86,059,309 (GRCm39) |
G2E |
probably benign |
Het |
Or9m2 |
C |
T |
2: 87,820,496 (GRCm39) |
L14F |
probably damaging |
Het |
Pcdha11 |
A |
G |
18: 37,139,624 (GRCm39) |
T418A |
probably benign |
Het |
Pdzd2 |
T |
C |
15: 12,592,249 (GRCm39) |
K132E |
probably damaging |
Het |
Pira13 |
T |
C |
7: 3,825,903 (GRCm39) |
E322G |
unknown |
Het |
Plec |
C |
T |
15: 76,062,497 (GRCm39) |
R2480H |
possibly damaging |
Het |
Plscr2 |
G |
A |
9: 92,177,713 (GRCm39) |
G293D |
probably damaging |
Het |
Prr23a4 |
A |
G |
9: 98,785,581 (GRCm39) |
D82G |
probably benign |
Het |
Ptchd4 |
A |
G |
17: 42,813,554 (GRCm39) |
H485R |
probably benign |
Het |
Rbbp9 |
A |
T |
2: 144,389,986 (GRCm39) |
M59K |
probably null |
Het |
Rest |
G |
A |
5: 77,430,325 (GRCm39) |
A915T |
probably benign |
Het |
Rhbdf1 |
C |
T |
11: 32,164,563 (GRCm39) |
A168T |
probably benign |
Het |
Scamp2 |
A |
T |
9: 57,484,953 (GRCm39) |
Q53L |
probably benign |
Het |
Scn2a |
T |
C |
2: 65,520,620 (GRCm39) |
F539L |
probably benign |
Het |
Sdr16c6 |
A |
T |
4: 4,076,872 (GRCm39) |
I9N |
probably benign |
Het |
Slc23a3 |
T |
A |
1: 75,110,511 (GRCm39) |
|
probably benign |
Het |
Slc6a19 |
A |
G |
13: 73,833,889 (GRCm39) |
S390P |
probably damaging |
Het |
Snx11 |
C |
T |
11: 96,661,885 (GRCm39) |
R99Q |
probably damaging |
Het |
Suclg2 |
T |
A |
6: 95,565,927 (GRCm39) |
I189F |
possibly damaging |
Het |
Tedc1 |
T |
C |
12: 113,120,375 (GRCm39) |
|
probably null |
Het |
Timeless |
A |
T |
10: 128,082,265 (GRCm39) |
R598W |
probably damaging |
Het |
Tm9sf3 |
A |
T |
19: 41,203,526 (GRCm39) |
N583K |
possibly damaging |
Het |
Tox3 |
A |
G |
8: 90,984,708 (GRCm39) |
V157A |
probably damaging |
Het |
Tpr |
G |
T |
1: 150,308,164 (GRCm39) |
V1640L |
probably benign |
Het |
Trav7-4 |
C |
T |
14: 53,699,102 (GRCm39) |
A83V |
probably benign |
Het |
Trdn |
A |
G |
10: 33,326,981 (GRCm39) |
K590R |
possibly damaging |
Het |
Trim11 |
T |
C |
11: 58,881,220 (GRCm39) |
L371P |
probably damaging |
Het |
Trim5 |
T |
A |
7: 103,926,033 (GRCm39) |
Q176L |
probably damaging |
Het |
Tubgcp2 |
T |
C |
7: 139,586,053 (GRCm39) |
H412R |
possibly damaging |
Het |
Ugt2b35 |
T |
A |
5: 87,149,302 (GRCm39) |
S184R |
probably damaging |
Het |
Ush2a |
T |
A |
1: 188,460,863 (GRCm39) |
V2708E |
probably damaging |
Het |
Vmn1r87 |
T |
A |
7: 12,865,427 (GRCm39) |
T287S |
possibly damaging |
Het |
Zbtb7a |
A |
G |
10: 80,980,838 (GRCm39) |
D344G |
probably damaging |
Het |
Zfp560 |
G |
T |
9: 20,260,348 (GRCm39) |
N171K |
probably benign |
Het |
Zfp579 |
A |
T |
7: 4,996,850 (GRCm39) |
C354S |
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 |
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 |
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'- AGAGTTCTACCTGCTGCAAGG -3'
(R):5'- CTCTTAGAAGTGGGATGACGTG -3'
Sequencing Primer
(F):5'- GGAGCAGCCTAGGAAGCCATG -3'
(R):5'- ATGACGTGGTGAGCCCTTG -3'
|
Posted On |
2020-07-13 |