Incidental Mutation 'IGL03328:Npc1l1'
| ID |
416730 |
| 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 # |
IGL03328
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
6161013-6180143 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
C to A
at 6168643 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Stop codon
at position 913
(E913*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004505
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004505]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004505
AA Change: E913*
|
| SMART Domains |
Protein: ENSMUSP00000004505
Gene: ENSMUSG00000020447
AA Change: E913*
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaca |
A |
T |
11: 84,211,355 (GRCm39) |
M1556L |
probably benign |
Het |
| Aicda |
T |
G |
6: 122,539,396 (GRCm39) |
D187E |
probably benign |
Het |
| Arfgap3 |
A |
C |
15: 83,227,282 (GRCm39) |
F43L |
probably damaging |
Het |
| AW551984 |
T |
C |
9: 39,508,412 (GRCm39) |
E368G |
probably damaging |
Het |
| Bbs4 |
T |
C |
9: 59,251,401 (GRCm39) |
E33G |
probably damaging |
Het |
| Bcas1 |
T |
A |
2: 170,208,316 (GRCm39) |
K437* |
probably null |
Het |
| Brwd1 |
A |
T |
16: 95,803,925 (GRCm39) |
W2082R |
probably damaging |
Het |
| Card6 |
A |
T |
15: 5,134,927 (GRCm39) |
|
probably benign |
Het |
| Cd200r4 |
A |
G |
16: 44,653,882 (GRCm39) |
I226M |
possibly damaging |
Het |
| Cep57l1 |
T |
C |
10: 41,619,148 (GRCm39) |
E73G |
probably damaging |
Het |
| Chaf1a |
T |
G |
17: 56,370,374 (GRCm39) |
F613C |
probably damaging |
Het |
| Clybl |
G |
T |
14: 122,639,406 (GRCm39) |
K323N |
probably damaging |
Het |
| Coa7 |
A |
G |
4: 108,195,479 (GRCm39) |
D136G |
probably damaging |
Het |
| Col5a2 |
C |
A |
1: 45,415,306 (GRCm39) |
V1478L |
possibly damaging |
Het |
| Ctnnd2 |
T |
C |
15: 30,921,993 (GRCm39) |
|
probably benign |
Het |
| Cyp4f17 |
T |
G |
17: 32,739,600 (GRCm39) |
M174R |
probably damaging |
Het |
| Dnah10 |
A |
T |
5: 124,831,354 (GRCm39) |
D794V |
probably benign |
Het |
| Eapp |
A |
G |
12: 54,738,878 (GRCm39) |
S87P |
probably benign |
Het |
| Efnb3 |
A |
G |
11: 69,448,031 (GRCm39) |
I137T |
probably damaging |
Het |
| Eif4e |
T |
A |
3: 138,259,488 (GRCm39) |
|
probably benign |
Het |
| Fam83b |
T |
A |
9: 76,400,324 (GRCm39) |
I260L |
probably benign |
Het |
| Fras1 |
A |
G |
5: 96,929,619 (GRCm39) |
T4008A |
probably damaging |
Het |
| Fut8 |
A |
T |
12: 77,412,003 (GRCm39) |
R118W |
probably damaging |
Het |
| Glt1d1 |
A |
C |
5: 127,734,183 (GRCm39) |
D119A |
probably benign |
Het |
| Gm3727 |
T |
A |
14: 7,261,685 (GRCm38) |
*206C |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,261 (GRCm39) |
V174M |
possibly damaging |
Het |
| Gtf2ird1 |
A |
G |
5: 134,417,983 (GRCm39) |
|
probably null |
Het |
| Haao |
C |
T |
17: 84,154,078 (GRCm39) |
C23Y |
probably damaging |
Het |
| Hip1 |
A |
T |
5: 135,453,728 (GRCm39) |
V400E |
probably damaging |
Het |
| Keg1 |
A |
G |
19: 12,696,461 (GRCm39) |
N215S |
probably damaging |
Het |
| Lss |
T |
G |
10: 76,376,785 (GRCm39) |
I334S |
probably damaging |
Het |
| Lyn |
A |
C |
4: 3,745,327 (GRCm39) |
E77D |
probably benign |
Het |
| Myo3a |
A |
G |
2: 22,468,210 (GRCm39) |
E1426G |
probably benign |
Het |
| Ncapg2 |
A |
G |
12: 116,403,677 (GRCm39) |
E863G |
possibly damaging |
Het |
| Ncl |
T |
C |
1: 86,280,319 (GRCm39) |
Y496C |
probably damaging |
Het |
| Nefm |
A |
T |
14: 68,358,739 (GRCm39) |
S432T |
probably benign |
Het |
| Nipsnap1 |
A |
G |
11: 4,834,096 (GRCm39) |
Y95C |
possibly damaging |
Het |
| Nup205 |
T |
C |
6: 35,209,349 (GRCm39) |
L1552P |
probably damaging |
Het |
| Or2t46 |
A |
G |
11: 58,472,539 (GRCm39) |
N290D |
probably damaging |
Het |
| Or4c112 |
G |
T |
2: 88,854,199 (GRCm39) |
Y49* |
probably null |
Het |
| Or52h7 |
T |
A |
7: 104,213,677 (GRCm39) |
V83D |
probably damaging |
Het |
| Or7c70 |
C |
T |
10: 78,683,201 (GRCm39) |
E183K |
probably benign |
Het |
| Osm |
A |
C |
11: 4,188,426 (GRCm39) |
I18L |
unknown |
Het |
| Otoa |
T |
A |
7: 120,710,217 (GRCm39) |
S254R |
probably damaging |
Het |
| Parp1 |
T |
C |
1: 180,427,155 (GRCm39) |
|
probably benign |
Het |
| Pcdh17 |
A |
G |
14: 84,770,551 (GRCm39) |
I1010V |
probably benign |
Het |
| Peli2 |
A |
T |
14: 48,490,032 (GRCm39) |
|
probably null |
Het |
| Pkd1l3 |
T |
G |
8: 110,388,738 (GRCm39) |
|
probably benign |
Het |
| Pkhd1 |
A |
G |
1: 20,151,524 (GRCm39) |
|
probably benign |
Het |
| Polg2 |
A |
C |
11: 106,659,163 (GRCm39) |
V450G |
probably benign |
Het |
| Potegl |
A |
T |
2: 23,102,817 (GRCm39) |
Y185F |
possibly damaging |
Het |
| Ptpn13 |
A |
T |
5: 103,664,214 (GRCm39) |
T401S |
probably benign |
Het |
| Rgs22 |
C |
T |
15: 36,043,350 (GRCm39) |
|
probably null |
Het |
| Rttn |
T |
G |
18: 89,061,152 (GRCm39) |
S1107A |
probably benign |
Het |
| Scn5a |
G |
T |
9: 119,366,702 (GRCm39) |
N328K |
probably benign |
Het |
| Sned1 |
G |
A |
1: 93,217,089 (GRCm39) |
A1325T |
probably benign |
Het |
| St8sia4 |
T |
A |
1: 95,588,595 (GRCm39) |
E80V |
probably benign |
Het |
| Stard7 |
T |
C |
2: 127,134,176 (GRCm39) |
|
probably benign |
Het |
| Suco |
G |
T |
1: 161,647,990 (GRCm39) |
P1099T |
probably damaging |
Het |
| Syn2 |
G |
T |
6: 115,251,221 (GRCm39) |
C459F |
probably damaging |
Het |
| Tas2r117 |
A |
C |
6: 132,780,041 (GRCm39) |
I60L |
probably benign |
Het |
| Tomm70a |
T |
C |
16: 56,965,150 (GRCm39) |
C445R |
probably damaging |
Het |
| Tpsab1 |
T |
A |
17: 25,564,102 (GRCm39) |
D87V |
probably benign |
Het |
| Trgc4 |
A |
G |
13: 19,536,416 (GRCm39) |
Y158C |
unknown |
Het |
| Trpm6 |
A |
T |
19: 18,815,446 (GRCm39) |
E1177D |
possibly damaging |
Het |
| Vmn2r71 |
A |
T |
7: 85,273,499 (GRCm39) |
D771V |
probably damaging |
Het |
| Vmn2r93 |
A |
T |
17: 18,525,220 (GRCm39) |
T293S |
probably 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 |
|
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 |
|
|
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 |
|
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 |
2016-08-02 |
Incidental Mutation