Incidental Mutation 'IGL02724:Npc1l1'
ID |
305110 |
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 # |
IGL02724
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 6164684 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Valine to Methionine
at position 1122
(V1122M)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004505
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004505]
|
AlphaFold |
no structure available at present |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000004505
AA Change: V1122M
PolyPhen 2
Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000004505 Gene: ENSMUSG00000020447 AA Change: V1122M
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 |
|
Meta Mutation Damage Score |
0.1203 |
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: 66 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Accs |
T |
G |
2: 93,676,121 (GRCm39) |
K85Q |
probably damaging |
Het |
Acmsd |
A |
T |
1: 127,676,822 (GRCm39) |
T116S |
possibly damaging |
Het |
Agrn |
T |
A |
4: 156,257,264 (GRCm39) |
K1189* |
probably null |
Het |
Alk |
T |
C |
17: 72,292,455 (GRCm39) |
R508G |
probably benign |
Het |
Arhgap23 |
T |
A |
11: 97,382,005 (GRCm39) |
Y1123N |
probably damaging |
Het |
Arl6ip5 |
G |
T |
6: 97,209,365 (GRCm39) |
M133I |
probably benign |
Het |
Axin2 |
G |
A |
11: 108,833,772 (GRCm39) |
G573D |
possibly damaging |
Het |
B4galt2 |
A |
G |
4: 117,734,075 (GRCm39) |
|
probably null |
Het |
Baz2b |
G |
T |
2: 59,807,718 (GRCm39) |
D180E |
possibly damaging |
Het |
Btnl6 |
G |
T |
17: 34,727,149 (GRCm39) |
Y460* |
probably null |
Het |
Cct7 |
A |
T |
6: 85,436,131 (GRCm39) |
D14V |
probably damaging |
Het |
Cd55 |
T |
A |
1: 130,377,149 (GRCm39) |
|
probably benign |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Cdh2 |
C |
T |
18: 16,762,537 (GRCm39) |
R526Q |
probably benign |
Het |
Chi3l1 |
A |
C |
1: 134,116,981 (GRCm39) |
E315A |
probably damaging |
Het |
Cmya5 |
A |
G |
13: 93,233,163 (GRCm39) |
S642P |
probably benign |
Het |
Cpm |
C |
A |
10: 117,465,756 (GRCm39) |
T43K |
probably damaging |
Het |
Cracd |
T |
C |
5: 77,006,306 (GRCm39) |
V889A |
unknown |
Het |
Cyp8b1 |
A |
T |
9: 121,744,453 (GRCm39) |
V293D |
probably benign |
Het |
Dock1 |
T |
G |
7: 134,765,082 (GRCm39) |
D1691E |
probably benign |
Het |
Fasn |
T |
C |
11: 120,700,659 (GRCm39) |
D2120G |
probably benign |
Het |
Gal3st4 |
T |
C |
5: 138,263,679 (GRCm39) |
K440R |
probably benign |
Het |
Gfpt1 |
A |
T |
6: 87,033,164 (GRCm39) |
K130* |
probably null |
Het |
Gpr26 |
T |
C |
7: 131,576,121 (GRCm39) |
|
probably null |
Het |
Htr2a |
A |
T |
14: 74,882,502 (GRCm39) |
I163F |
probably damaging |
Het |
Ift70a2 |
T |
C |
2: 75,806,682 (GRCm39) |
E610G |
probably benign |
Het |
Insrr |
A |
G |
3: 87,716,879 (GRCm39) |
D673G |
probably benign |
Het |
Ipo8 |
G |
T |
6: 148,692,979 (GRCm39) |
C636* |
probably null |
Het |
Kirrel1 |
C |
A |
3: 86,997,780 (GRCm39) |
E248* |
probably null |
Het |
Lrp6 |
A |
G |
6: 134,461,228 (GRCm39) |
V743A |
probably damaging |
Het |
Lrrc45 |
C |
A |
11: 120,609,144 (GRCm39) |
S374R |
probably benign |
Het |
Map3k9 |
G |
A |
12: 81,771,516 (GRCm39) |
P714S |
probably benign |
Het |
Mrgprb8 |
T |
A |
7: 48,039,121 (GRCm39) |
L264Q |
possibly damaging |
Het |
Mroh4 |
C |
A |
15: 74,478,000 (GRCm39) |
W902L |
probably benign |
Het |
Nfat5 |
T |
A |
8: 108,085,367 (GRCm39) |
D535E |
probably damaging |
Het |
Nfatc3 |
T |
C |
8: 106,834,817 (GRCm39) |
V713A |
probably benign |
Het |
Nsg2 |
A |
G |
11: 32,005,011 (GRCm39) |
|
probably null |
Het |
Or4c15 |
C |
A |
2: 88,759,792 (GRCm39) |
R289L |
probably damaging |
Het |
Or8s10 |
T |
A |
15: 98,335,660 (GRCm39) |
F103L |
probably benign |
Het |
Pax9 |
A |
T |
12: 56,756,604 (GRCm39) |
H314L |
possibly damaging |
Het |
Phf21a |
A |
T |
2: 92,190,592 (GRCm39) |
I584F |
probably damaging |
Het |
Pip5k1c |
A |
G |
10: 81,149,296 (GRCm39) |
E536G |
probably benign |
Het |
Plekhm3 |
A |
G |
1: 64,834,276 (GRCm39) |
S736P |
probably damaging |
Het |
Ppp3cb |
T |
A |
14: 20,573,645 (GRCm39) |
|
probably null |
Het |
Prdm9 |
A |
T |
17: 15,783,522 (GRCm39) |
S14R |
probably benign |
Het |
Proc |
A |
G |
18: 32,267,925 (GRCm39) |
I71T |
probably damaging |
Het |
Prom2 |
T |
A |
2: 127,380,577 (GRCm39) |
|
probably benign |
Het |
Psd |
T |
C |
19: 46,307,984 (GRCm39) |
T675A |
probably benign |
Het |
Rnf215 |
G |
T |
11: 4,090,305 (GRCm39) |
R341L |
probably damaging |
Het |
Ryr3 |
A |
G |
2: 112,732,921 (GRCm39) |
|
probably null |
Het |
Sh2d7 |
C |
A |
9: 54,448,105 (GRCm39) |
T42N |
probably benign |
Het |
Sh3glb2 |
C |
T |
2: 30,236,368 (GRCm39) |
G279D |
probably benign |
Het |
Slc25a46 |
A |
G |
18: 31,738,868 (GRCm39) |
|
probably benign |
Het |
Snx17 |
T |
C |
5: 31,354,390 (GRCm39) |
S167P |
probably damaging |
Het |
Snx19 |
A |
G |
9: 30,343,556 (GRCm39) |
N572S |
possibly damaging |
Het |
Sptbn4 |
G |
A |
7: 27,067,104 (GRCm39) |
R1937C |
probably damaging |
Het |
Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
Srsf11 |
T |
C |
3: 157,722,068 (GRCm39) |
|
probably benign |
Het |
Taar7b |
A |
T |
10: 23,876,581 (GRCm39) |
M249L |
probably benign |
Het |
Tle6 |
G |
A |
10: 81,435,898 (GRCm39) |
Q6* |
probably null |
Het |
Twnk |
G |
T |
19: 44,996,557 (GRCm39) |
R330L |
probably damaging |
Het |
Unc13a |
C |
A |
8: 72,108,949 (GRCm39) |
|
probably benign |
Het |
Vmn2r107 |
A |
G |
17: 20,577,006 (GRCm39) |
T335A |
possibly damaging |
Het |
Wdtc1 |
A |
T |
4: 133,024,789 (GRCm39) |
S469R |
possibly damaging |
Het |
Ypel1 |
A |
G |
16: 16,921,466 (GRCm39) |
Y73H |
probably benign |
Het |
Zfp382 |
A |
T |
7: 29,833,162 (GRCm39) |
Y271F |
probably benign |
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 |
IGL01348:Npc1l1
|
APN |
11 |
6,177,974 (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 |
|
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 |
2015-04-16 |