Incidental Mutation 'IGL02957:Mttp'
| ID |
365189 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Mttp
|
| Ensembl Gene |
ENSMUSG00000028158 |
| Gene Name |
microsomal triglyceride transfer protein |
| Synonyms |
1810043K16Rik, MTP |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.893)
|
| Stock # |
IGL02957
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
3 |
| Chromosomal Location |
137795616-137849179 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 137814842 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 493
(K493E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000096179
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000029805]
[ENSMUST00000098580]
|
| AlphaFold |
O08601 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000029805
AA Change: K478E
PolyPhen 2
Score 0.910 (Sensitivity: 0.81; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000029805
Gene: ENSMUSG00000028158
AA Change: K478E
| 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: K493E
PolyPhen 2
Score 0.949 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000096179
Gene: ENSMUSG00000028158
AA Change: K493E
| 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 |
|
| 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: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abi2 |
A |
G |
1: 60,509,945 (GRCm39) |
D262G |
probably damaging |
Het |
| Abtb3 |
T |
A |
10: 85,469,701 (GRCm39) |
M405K |
probably damaging |
Het |
| Abtb3 |
C |
T |
10: 85,467,150 (GRCm39) |
|
probably benign |
Het |
| Ahcyl1 |
G |
T |
3: 107,574,958 (GRCm39) |
Q462K |
probably damaging |
Het |
| C8b |
A |
G |
4: 104,623,652 (GRCm39) |
T20A |
probably benign |
Het |
| Casd1 |
T |
A |
6: 4,634,068 (GRCm39) |
Y594N |
possibly damaging |
Het |
| Crtc2 |
C |
T |
3: 90,169,840 (GRCm39) |
P412L |
probably damaging |
Het |
| Cyp3a44 |
T |
A |
5: 145,716,472 (GRCm39) |
R373* |
probably null |
Het |
| Dnah10 |
A |
G |
5: 124,840,197 (GRCm39) |
D1277G |
probably benign |
Het |
| Dnah2 |
A |
T |
11: 69,339,333 (GRCm39) |
V3058E |
possibly damaging |
Het |
| Eif3l |
T |
C |
15: 78,974,028 (GRCm39) |
L481P |
probably benign |
Het |
| Fbxw7 |
A |
T |
3: 84,883,544 (GRCm39) |
T573S |
probably benign |
Het |
| Fcgbp |
C |
A |
7: 27,791,272 (GRCm39) |
Y844* |
probably null |
Het |
| Fcrl2 |
C |
A |
3: 87,169,501 (GRCm39) |
V13F |
possibly damaging |
Het |
| Gbx2 |
T |
G |
1: 89,858,375 (GRCm39) |
S35R |
probably benign |
Het |
| H2-M9 |
A |
G |
17: 36,953,049 (GRCm39) |
L86S |
probably benign |
Het |
| Hebp1 |
C |
T |
6: 135,114,990 (GRCm39) |
G157D |
probably benign |
Het |
| Igf2bp3 |
C |
A |
6: 49,064,338 (GRCm39) |
V560L |
probably benign |
Het |
| Igsf10 |
A |
G |
3: 59,238,285 (GRCm39) |
I632T |
probably damaging |
Het |
| Kcnab2 |
A |
T |
4: 152,520,326 (GRCm39) |
S5T |
possibly damaging |
Het |
| Kcnh5 |
T |
C |
12: 75,054,439 (GRCm39) |
S502G |
probably benign |
Het |
| Lpcat2 |
T |
A |
8: 93,602,212 (GRCm39) |
Y224* |
probably null |
Het |
| Mcrip2 |
A |
G |
17: 26,087,499 (GRCm39) |
V24A |
probably damaging |
Het |
| Myl7 |
A |
G |
11: 5,847,137 (GRCm39) |
S139P |
possibly damaging |
Het |
| Npepps |
C |
T |
11: 97,133,478 (GRCm39) |
R268H |
probably damaging |
Het |
| Oas1c |
C |
T |
5: 120,943,478 (GRCm39) |
W18* |
probably null |
Het |
| Or10ak7 |
G |
T |
4: 118,791,316 (GRCm39) |
T241N |
probably damaging |
Het |
| P4ha3 |
T |
C |
7: 99,968,112 (GRCm39) |
|
probably benign |
Het |
| Pate14 |
G |
T |
9: 36,549,146 (GRCm39) |
T38K |
probably benign |
Het |
| Pkd1l2 |
G |
A |
8: 117,792,484 (GRCm39) |
T436I |
probably benign |
Het |
| Pkhd1l1 |
T |
A |
15: 44,376,304 (GRCm39) |
W989R |
probably damaging |
Het |
| Podxl |
A |
G |
6: 31,505,384 (GRCm39) |
|
probably benign |
Het |
| Pot1b |
T |
C |
17: 56,007,009 (GRCm39) |
Y36C |
probably damaging |
Het |
| Ppme1 |
A |
T |
7: 99,987,647 (GRCm39) |
I103K |
possibly damaging |
Het |
| Ppp1r12a |
T |
C |
10: 108,034,779 (GRCm39) |
I108T |
probably damaging |
Het |
| Pramel1 |
A |
G |
4: 143,124,168 (GRCm39) |
H281R |
probably benign |
Het |
| Prep |
T |
C |
10: 45,002,126 (GRCm39) |
V427A |
probably benign |
Het |
| Prkce |
A |
G |
17: 86,803,454 (GRCm39) |
D451G |
possibly damaging |
Het |
| Prrc2c |
A |
G |
1: 162,534,104 (GRCm39) |
|
probably benign |
Het |
| Ramacl |
A |
T |
13: 67,056,277 (GRCm39) |
|
probably benign |
Het |
| Rrm2 |
A |
G |
12: 24,758,440 (GRCm39) |
N32S |
probably damaging |
Het |
| Sema6a |
A |
G |
18: 47,382,291 (GRCm39) |
L752P |
probably damaging |
Het |
| Sik3 |
T |
A |
9: 46,107,143 (GRCm39) |
I429N |
possibly damaging |
Het |
| Slc22a29 |
A |
G |
19: 8,147,354 (GRCm39) |
L336P |
probably benign |
Het |
| Stk32a |
A |
T |
18: 43,445,057 (GRCm39) |
M284L |
probably benign |
Het |
| Syde2 |
T |
C |
3: 145,694,934 (GRCm39) |
|
probably benign |
Het |
| Tcta |
G |
A |
9: 108,182,531 (GRCm39) |
S91F |
possibly damaging |
Het |
| Traf3ip2 |
A |
T |
10: 39,530,406 (GRCm39) |
T517S |
probably damaging |
Het |
| Trpv3 |
A |
G |
11: 73,176,698 (GRCm39) |
Y359C |
probably damaging |
Het |
| Vmn1r66 |
A |
G |
7: 10,008,737 (GRCm39) |
S99P |
probably damaging |
Het |
| Vmn2r8 |
G |
A |
5: 108,950,091 (GRCm39) |
T252M |
probably benign |
Het |
| Wdr27 |
A |
T |
17: 15,130,372 (GRCm39) |
|
probably benign |
Het |
| Yipf1 |
A |
G |
4: 107,193,347 (GRCm39) |
T78A |
probably damaging |
Het |
| Zfp735 |
A |
T |
11: 73,601,755 (GRCm39) |
Y233F |
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 |
|
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 |
|
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 |
|
|
| Posted On |
2015-12-18 |
Incidental Mutation