Incidental Mutation 'IGL01348:Npc1l1'
ID |
75138 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Npc1l1
|
Ensembl Gene |
ENSMUSG00000020447 |
Gene Name |
NPC1 like intracellular cholesterol transporter 1 |
Synonyms |
Niemann-Pick disease, type C1, 9130221N23Rik |
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.098)
|
Stock # |
IGL01348
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 6177974 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Asparagine to Aspartic acid
at position 479
(N479D)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004505]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000004505
AA Change: N479D
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000004505 Gene: ENSMUSG00000020447 AA Change: N479D
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
20 |
N/A |
INTRINSIC |
Pfam:NPC1_N
|
28 |
283 |
8.7e-74 |
PFAM |
low complexity region
|
294 |
307 |
N/A |
INTRINSIC |
transmembrane domain
|
348 |
370 |
N/A |
INTRINSIC |
Pfam:Patched
|
385 |
897 |
4.7e-52 |
PFAM |
Pfam:Sterol-sensing
|
661 |
815 |
5.7e-55 |
PFAM |
Pfam:MMPL
|
665 |
830 |
2.3e-11 |
PFAM |
Pfam:Patched
|
1063 |
1268 |
6.2e-34 |
PFAM |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a multi-pass membrane protein. It contains a conserved N-terminal Niemann-Pick C1 (NPC1) domain and a putative sterol-sensing domain (SSD) which includes a YQRL motif functioning as a plasma membrane to trans-Golgi network transport signal in other proteins. This protein takes up free cholesterol into cells through vesicular endocytosis and plays a critical role in the absorption of intestinal cholesterol. It also has the ability to transport alpha-tocopherol (vitamin E). The drug ezetimibe targets this protein and inhibits the absorption of intestinal cholesterol and alpha-tocopherol. In addition, this protein may play a critical role in regulating lipid metabolism. Polymorphic variations in this gene are associated with plasma total cholesterol and low-density lipoprotein cholesterol (LDL-C) levels and coronary heart disease (CHD) risk. Alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Oct 2009] PHENOTYPE: Mice homozygous for a targeted null mutation exhibit normal intestinal development, fertility and plasma cholesterol and triglyceride levels; however, intestinal cholesterol absorption was substantially reduced. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 64 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700093K21Rik |
T |
C |
11: 23,467,213 (GRCm39) |
E140G |
probably null |
Het |
Adgrl3 |
A |
G |
5: 81,874,570 (GRCm39) |
T956A |
probably damaging |
Het |
Aff4 |
G |
A |
11: 53,293,327 (GRCm39) |
S772N |
probably benign |
Het |
Ark2n |
A |
G |
18: 77,761,613 (GRCm39) |
I233T |
possibly damaging |
Het |
Atad5 |
A |
G |
11: 79,986,390 (GRCm39) |
I492M |
probably benign |
Het |
Atf4 |
T |
C |
15: 80,140,728 (GRCm39) |
|
probably benign |
Het |
Atrip |
A |
G |
9: 108,898,363 (GRCm39) |
S219P |
probably damaging |
Het |
Axl |
G |
A |
7: 25,462,734 (GRCm39) |
R656W |
probably damaging |
Het |
B3gnt3 |
T |
A |
8: 72,145,648 (GRCm39) |
Q240L |
possibly damaging |
Het |
Baz2b |
A |
G |
2: 59,764,031 (GRCm39) |
V915A |
possibly damaging |
Het |
Cacna1s |
T |
C |
1: 136,002,890 (GRCm39) |
V329A |
possibly damaging |
Het |
Celf3 |
C |
A |
3: 94,395,535 (GRCm39) |
Q388K |
possibly damaging |
Het |
Ciita |
T |
C |
16: 10,328,591 (GRCm39) |
S292P |
probably damaging |
Het |
Cip2a |
A |
G |
16: 48,833,551 (GRCm39) |
I551V |
probably damaging |
Het |
Clec18a |
G |
A |
8: 111,798,245 (GRCm39) |
A423V |
probably damaging |
Het |
Clnk |
T |
C |
5: 38,870,550 (GRCm39) |
D336G |
probably damaging |
Het |
Csmd1 |
T |
G |
8: 15,960,596 (GRCm39) |
H3273P |
probably damaging |
Het |
Cyp3a11 |
A |
T |
5: 145,805,817 (GRCm39) |
V157E |
possibly damaging |
Het |
Dcp1b |
T |
C |
6: 119,160,679 (GRCm39) |
I87T |
probably damaging |
Het |
Ell3 |
A |
G |
2: 121,272,277 (GRCm39) |
S66P |
probably damaging |
Het |
Ercc4 |
T |
C |
16: 12,950,798 (GRCm39) |
F631L |
probably damaging |
Het |
Etl4 |
T |
A |
2: 20,811,784 (GRCm39) |
V1289D |
probably damaging |
Het |
Gm16372 |
T |
C |
12: 24,543,606 (GRCm39) |
|
probably benign |
Het |
Gm4553 |
C |
T |
7: 141,718,909 (GRCm39) |
C173Y |
unknown |
Het |
Gvin-ps5 |
T |
A |
7: 105,929,042 (GRCm39) |
H285L |
unknown |
Het |
Gykl1 |
A |
T |
18: 52,827,808 (GRCm39) |
I339F |
possibly damaging |
Het |
H60b |
A |
C |
10: 22,162,078 (GRCm39) |
N101T |
possibly damaging |
Het |
Inpp4a |
C |
T |
1: 37,427,986 (GRCm39) |
T407I |
probably damaging |
Het |
Itga11 |
A |
G |
9: 62,651,861 (GRCm39) |
N331S |
possibly damaging |
Het |
Kbtbd6 |
T |
A |
14: 79,690,783 (GRCm39) |
C430S |
probably damaging |
Het |
Mfsd4a |
T |
C |
1: 131,995,564 (GRCm39) |
S1G |
probably null |
Het |
Mybpc2 |
C |
A |
7: 44,165,352 (GRCm39) |
M372I |
probably benign |
Het |
Myh10 |
A |
T |
11: 68,702,629 (GRCm39) |
T1768S |
probably benign |
Het |
Myh8 |
A |
G |
11: 67,188,606 (GRCm39) |
K1063E |
probably damaging |
Het |
Nat8f5 |
A |
T |
6: 85,794,862 (GRCm39) |
F33I |
probably damaging |
Het |
Nbeal2 |
T |
G |
9: 110,458,214 (GRCm39) |
N2119T |
probably damaging |
Het |
Nek11 |
C |
T |
9: 105,270,112 (GRCm39) |
G37S |
probably damaging |
Het |
Nup160 |
A |
G |
2: 90,530,772 (GRCm39) |
T477A |
probably benign |
Het |
Or10al5 |
A |
T |
17: 38,063,177 (GRCm39) |
H144L |
probably benign |
Het |
Or5h18 |
T |
A |
16: 58,848,157 (GRCm39) |
T38S |
probably damaging |
Het |
Pcgf2 |
A |
G |
11: 97,581,066 (GRCm39) |
V259A |
probably benign |
Het |
Pmm1 |
A |
G |
15: 81,836,219 (GRCm39) |
V131A |
probably damaging |
Het |
Polr3a |
A |
T |
14: 24,511,831 (GRCm39) |
D908E |
probably damaging |
Het |
Psg29 |
A |
C |
7: 16,944,598 (GRCm39) |
R369S |
probably benign |
Het |
Ptprq |
T |
A |
10: 107,547,765 (GRCm39) |
D211V |
probably damaging |
Het |
Rdh9 |
A |
G |
10: 127,612,661 (GRCm39) |
N103S |
probably benign |
Het |
Riok3 |
T |
C |
18: 12,286,020 (GRCm39) |
|
probably benign |
Het |
Serpinb1b |
A |
T |
13: 33,275,398 (GRCm39) |
Q174H |
probably benign |
Het |
Sgip1 |
G |
T |
4: 102,772,353 (GRCm39) |
|
probably null |
Het |
Sgpp1 |
A |
T |
12: 75,781,767 (GRCm39) |
Y191N |
probably damaging |
Het |
Slc12a1 |
A |
G |
2: 125,036,051 (GRCm39) |
N641S |
probably damaging |
Het |
Slc5a4b |
T |
C |
10: 75,906,422 (GRCm39) |
N399S |
probably damaging |
Het |
Snx16 |
C |
T |
3: 10,484,219 (GRCm39) |
A335T |
probably damaging |
Het |
Sos2 |
C |
T |
12: 69,664,866 (GRCm39) |
R355H |
probably damaging |
Het |
Szt2 |
A |
G |
4: 118,250,821 (GRCm39) |
|
probably benign |
Het |
Tbcd |
T |
A |
11: 121,387,902 (GRCm39) |
D344E |
probably benign |
Het |
Tek |
C |
A |
4: 94,747,895 (GRCm39) |
Q988K |
probably damaging |
Het |
Tgm6 |
A |
G |
2: 129,979,299 (GRCm39) |
D143G |
probably damaging |
Het |
Tpx2 |
A |
G |
2: 152,735,511 (GRCm39) |
K713R |
probably damaging |
Het |
Trappc9 |
T |
A |
15: 72,808,858 (GRCm39) |
E556V |
possibly damaging |
Het |
Trpm6 |
A |
T |
19: 18,855,015 (GRCm39) |
K1891N |
probably damaging |
Het |
Trpv1 |
G |
A |
11: 73,129,078 (GRCm39) |
|
probably null |
Het |
Usp37 |
T |
C |
1: 74,500,861 (GRCm39) |
S567G |
probably damaging |
Het |
Zfp773 |
A |
T |
7: 7,138,314 (GRCm39) |
V107D |
possibly damaging |
Het |
|
Other mutations in Npc1l1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00163:Npc1l1
|
APN |
11 |
6,174,199 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01891:Npc1l1
|
APN |
11 |
6,164,280 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01897:Npc1l1
|
APN |
11 |
6,177,879 (GRCm39) |
missense |
probably benign |
|
IGL02098:Npc1l1
|
APN |
11 |
6,164,581 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL02121:Npc1l1
|
APN |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
|
IGL02724:Npc1l1
|
APN |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
IGL02947:Npc1l1
|
APN |
11 |
6,179,246 (GRCm39) |
missense |
probably benign |
0.01 |
IGL03328:Npc1l1
|
APN |
11 |
6,168,643 (GRCm39) |
nonsense |
probably null |
|
R0137:Npc1l1
|
UTSW |
11 |
6,178,148 (GRCm39) |
nonsense |
probably null |
|
R0322:Npc1l1
|
UTSW |
11 |
6,179,042 (GRCm39) |
missense |
probably benign |
|
R0352:Npc1l1
|
UTSW |
11 |
6,173,076 (GRCm39) |
missense |
probably benign |
0.00 |
R0492:Npc1l1
|
UTSW |
11 |
6,173,040 (GRCm39) |
missense |
possibly damaging |
0.82 |
R0918:Npc1l1
|
UTSW |
11 |
6,168,239 (GRCm39) |
missense |
probably damaging |
1.00 |
R1300:Npc1l1
|
UTSW |
11 |
6,177,859 (GRCm39) |
missense |
probably damaging |
1.00 |
R1455:Npc1l1
|
UTSW |
11 |
6,178,174 (GRCm39) |
missense |
possibly damaging |
0.66 |
R1588:Npc1l1
|
UTSW |
11 |
6,167,785 (GRCm39) |
missense |
probably benign |
0.01 |
R1803:Npc1l1
|
UTSW |
11 |
6,178,846 (GRCm39) |
missense |
probably damaging |
1.00 |
R1882:Npc1l1
|
UTSW |
11 |
6,167,473 (GRCm39) |
splice site |
probably null |
|
R1944:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R1945:Npc1l1
|
UTSW |
11 |
6,175,199 (GRCm39) |
nonsense |
probably null |
|
R1945:Npc1l1
|
UTSW |
11 |
6,164,588 (GRCm39) |
missense |
possibly damaging |
0.67 |
R3155:Npc1l1
|
UTSW |
11 |
6,171,840 (GRCm39) |
missense |
probably benign |
|
R4343:Npc1l1
|
UTSW |
11 |
6,167,773 (GRCm39) |
missense |
probably benign |
|
R4504:Npc1l1
|
UTSW |
11 |
6,178,741 (GRCm39) |
missense |
possibly damaging |
0.61 |
R4610:Npc1l1
|
UTSW |
11 |
6,178,215 (GRCm39) |
missense |
probably damaging |
1.00 |
R4807:Npc1l1
|
UTSW |
11 |
6,168,723 (GRCm39) |
missense |
probably damaging |
1.00 |
R4829:Npc1l1
|
UTSW |
11 |
6,164,010 (GRCm39) |
critical splice donor site |
probably null |
|
R5135:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
possibly damaging |
0.94 |
R5290:Npc1l1
|
UTSW |
11 |
6,172,221 (GRCm39) |
missense |
probably benign |
0.00 |
R5369:Npc1l1
|
UTSW |
11 |
6,167,705 (GRCm39) |
critical splice donor site |
probably null |
|
R5388:Npc1l1
|
UTSW |
11 |
6,164,733 (GRCm39) |
missense |
probably damaging |
1.00 |
R5532:Npc1l1
|
UTSW |
11 |
6,174,245 (GRCm39) |
missense |
probably damaging |
0.98 |
R5540:Npc1l1
|
UTSW |
11 |
6,164,546 (GRCm39) |
missense |
probably damaging |
1.00 |
R5754:Npc1l1
|
UTSW |
11 |
6,177,839 (GRCm39) |
missense |
probably damaging |
1.00 |
R5760:Npc1l1
|
UTSW |
11 |
6,179,031 (GRCm39) |
missense |
probably benign |
0.02 |
R6057:Npc1l1
|
UTSW |
11 |
6,167,806 (GRCm39) |
missense |
possibly damaging |
0.66 |
R6388:Npc1l1
|
UTSW |
11 |
6,174,145 (GRCm39) |
missense |
probably damaging |
1.00 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,014 (GRCm39) |
missense |
probably damaging |
0.98 |
R6644:Npc1l1
|
UTSW |
11 |
6,164,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R6756:Npc1l1
|
UTSW |
11 |
6,165,153 (GRCm39) |
missense |
probably damaging |
1.00 |
R6790:Npc1l1
|
UTSW |
11 |
6,164,260 (GRCm39) |
splice site |
probably null |
|
R7006:Npc1l1
|
UTSW |
11 |
6,167,731 (GRCm39) |
missense |
probably benign |
|
R7062:Npc1l1
|
UTSW |
11 |
6,167,807 (GRCm39) |
missense |
probably benign |
|
R7273:Npc1l1
|
UTSW |
11 |
6,168,320 (GRCm39) |
missense |
probably damaging |
1.00 |
R7383:Npc1l1
|
UTSW |
11 |
6,167,777 (GRCm39) |
missense |
probably benign |
0.30 |
R8003:Npc1l1
|
UTSW |
11 |
6,165,129 (GRCm39) |
missense |
probably benign |
0.01 |
R8081:Npc1l1
|
UTSW |
11 |
6,167,768 (GRCm39) |
missense |
probably benign |
0.01 |
R8272:Npc1l1
|
UTSW |
11 |
6,179,327 (GRCm39) |
nonsense |
probably null |
|
R8549:Npc1l1
|
UTSW |
11 |
6,168,675 (GRCm39) |
missense |
probably damaging |
1.00 |
R8849:Npc1l1
|
UTSW |
11 |
6,179,038 (GRCm39) |
missense |
probably damaging |
0.97 |
R8887:Npc1l1
|
UTSW |
11 |
6,175,665 (GRCm39) |
missense |
probably damaging |
1.00 |
R8907:Npc1l1
|
UTSW |
11 |
6,178,157 (GRCm39) |
missense |
probably benign |
0.28 |
R9102:Npc1l1
|
UTSW |
11 |
6,164,684 (GRCm39) |
missense |
possibly damaging |
0.88 |
R9289:Npc1l1
|
UTSW |
11 |
6,168,355 (GRCm39) |
nonsense |
probably null |
|
R9626:Npc1l1
|
UTSW |
11 |
6,177,854 (GRCm39) |
missense |
probably benign |
0.05 |
R9785:Npc1l1
|
UTSW |
11 |
6,180,090 (GRCm39) |
missense |
unknown |
|
X0022:Npc1l1
|
UTSW |
11 |
6,178,058 (GRCm39) |
missense |
probably damaging |
1.00 |
Z1177:Npc1l1
|
UTSW |
11 |
6,175,209 (GRCm39) |
missense |
possibly damaging |
0.92 |
Z1177:Npc1l1
|
UTSW |
11 |
6,168,681 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Npc1l1
|
UTSW |
11 |
6,164,343 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2013-10-07 |