Incidental Mutation 'IGL02470:Ncstn'
ID |
294705 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Ncstn
|
Ensembl Gene |
ENSMUSG00000003458 |
Gene Name |
nicastrin |
Synonyms |
D1Dau13e, 9430068N19Rik, Nct, nicastrin |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL02470
|
Quality Score |
|
Status
|
|
Chromosome |
1 |
Chromosomal Location |
171893580-171910356 bp(-) (GRCm39) |
Type of Mutation |
critical splice donor site (2 bp from exon) |
DNA Base Change (assembly) |
A to G
at 171910166 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000003550
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003550]
[ENSMUST00000027833]
[ENSMUST00000124289]
[ENSMUST00000135192]
[ENSMUST00000140643]
[ENSMUST00000146137]
|
AlphaFold |
P57716 |
Predicted Effect |
probably null
Transcript: ENSMUST00000003550
|
SMART Domains |
Protein: ENSMUSP00000003550 Gene: ENSMUSG00000003458
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
Pfam:Peptidase_M28
|
254 |
468 |
2.9e-7 |
PFAM |
Pfam:Nicastrin
|
273 |
498 |
1.6e-94 |
PFAM |
transmembrane domain
|
669 |
691 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000027833
|
SMART Domains |
Protein: ENSMUSP00000027833 Gene: ENSMUSG00000026553
Domain | Start | End | E-Value | Type |
WD40
|
2 |
37 |
2.86e0 |
SMART |
WD40
|
40 |
79 |
1.11e-6 |
SMART |
WD40
|
82 |
121 |
4.76e-6 |
SMART |
WD40
|
124 |
163 |
2.24e-11 |
SMART |
WD40
|
194 |
233 |
2.98e-7 |
SMART |
WD40
|
238 |
277 |
8.42e-7 |
SMART |
WD40
|
280 |
318 |
1.38e1 |
SMART |
Pfam:Coatomer_WDAD
|
338 |
776 |
5.4e-144 |
PFAM |
Pfam:COPI_C
|
824 |
1233 |
1.4e-190 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000124289
|
SMART Domains |
Protein: ENSMUSP00000118899 Gene: ENSMUSG00000026553
Domain | Start | End | E-Value | Type |
Blast:WD40
|
1 |
37 |
2e-19 |
BLAST |
PDB:4J8G|B
|
1 |
52 |
2e-23 |
PDB |
SCOP:d1erja_
|
1 |
52 |
1e-6 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126634
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000135192
|
SMART Domains |
Protein: ENSMUSP00000118179 Gene: ENSMUSG00000026553
Domain | Start | End | E-Value | Type |
WD40
|
2 |
37 |
2.86e0 |
SMART |
WD40
|
40 |
79 |
1.11e-6 |
SMART |
WD40
|
82 |
121 |
4.76e-6 |
SMART |
WD40
|
124 |
163 |
2.24e-11 |
SMART |
WD40
|
194 |
233 |
2.98e-7 |
SMART |
WD40
|
238 |
277 |
8.42e-7 |
SMART |
WD40
|
280 |
318 |
1.38e1 |
SMART |
Pfam:Coatomer_WDAD
|
338 |
767 |
1.1e-148 |
PFAM |
Pfam:COPI_C
|
815 |
1224 |
3.6e-216 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000138407
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000140643
|
SMART Domains |
Protein: ENSMUSP00000119128 Gene: ENSMUSG00000003458
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000142825
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000146137
|
SMART Domains |
Protein: ENSMUSP00000120663 Gene: ENSMUSG00000003458
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
32 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a type I transmembrane glycoprotein that is an integral component of the multimeric gamma-secretase complex. The encoded protein cleaves integral membrane proteins, including Notch receptors and beta-amyloid precursor protein, and may be a stabilizing cofactor required for gamma-secretase complex assembly. The cleavage of beta-amyloid precursor protein yields amyloid beta peptide, the main component of the neuritic plaque and the hallmark lesion in the brains of patients with Alzheimer's disease; however, the nature of the encoded protein's role in Alzheimer's disease is not known for certain. Mutations in this gene are associated with familial acne inversa. A pseudogene of this gene is present on chromosome 21. Alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Feb 2014] PHENOTYPE: Homozygous mutant embryos die exhibiting morphological defects of the somites, yolk sac vasculature, neural tube, and pericardial sacs. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 29 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adcy10 |
A |
G |
1: 165,395,295 (GRCm39) |
Y1422C |
probably damaging |
Het |
Adnp |
T |
A |
2: 168,025,114 (GRCm39) |
K727I |
probably damaging |
Het |
Akr1c21 |
A |
T |
13: 4,627,406 (GRCm39) |
N167Y |
probably damaging |
Het |
Arl4a |
T |
C |
12: 40,086,747 (GRCm39) |
|
probably benign |
Het |
BB014433 |
A |
T |
8: 15,092,803 (GRCm39) |
F17I |
unknown |
Het |
Best1 |
T |
C |
19: 9,970,340 (GRCm39) |
S91G |
probably benign |
Het |
Ccdc148 |
A |
T |
2: 58,891,911 (GRCm39) |
S235T |
probably damaging |
Het |
Cdc45 |
C |
T |
16: 18,617,479 (GRCm39) |
M200I |
probably benign |
Het |
Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
Dcc |
A |
T |
18: 72,088,153 (GRCm39) |
|
probably benign |
Het |
Dnajc13 |
G |
A |
9: 104,052,946 (GRCm39) |
T1672I |
probably benign |
Het |
Elf3 |
A |
T |
1: 135,182,750 (GRCm39) |
F325Y |
probably damaging |
Het |
Enpp2 |
A |
G |
15: 54,702,856 (GRCm39) |
L880P |
probably damaging |
Het |
Fndc3b |
A |
G |
3: 27,515,869 (GRCm39) |
Y646H |
probably damaging |
Het |
Fzd6 |
A |
T |
15: 38,899,952 (GRCm39) |
|
probably benign |
Het |
Gnb1 |
T |
A |
4: 155,611,970 (GRCm39) |
|
probably benign |
Het |
Mast1 |
C |
A |
8: 85,647,841 (GRCm39) |
G511V |
probably damaging |
Het |
Mcmbp |
T |
C |
7: 128,306,345 (GRCm39) |
I424M |
possibly damaging |
Het |
Mobp |
A |
G |
9: 119,997,072 (GRCm39) |
T68A |
probably benign |
Het |
Myh11 |
T |
C |
16: 14,035,910 (GRCm39) |
E1006G |
probably damaging |
Het |
Or1j12 |
A |
G |
2: 36,342,609 (GRCm39) |
D4G |
probably benign |
Het |
Or8k39 |
A |
T |
2: 86,563,929 (GRCm39) |
V9E |
probably damaging |
Het |
Phip |
A |
T |
9: 82,772,507 (GRCm39) |
V1075D |
possibly damaging |
Het |
Sanbr |
A |
T |
11: 23,565,222 (GRCm39) |
M255K |
probably damaging |
Het |
Serpinb1a |
C |
T |
13: 33,034,376 (GRCm39) |
S5N |
probably damaging |
Het |
Slc15a3 |
A |
G |
19: 10,830,534 (GRCm39) |
N295S |
probably benign |
Het |
Trmt13 |
A |
C |
3: 116,383,877 (GRCm39) |
|
probably null |
Het |
Trp63 |
A |
C |
16: 25,639,134 (GRCm39) |
|
probably benign |
Het |
Zfp518a |
G |
A |
19: 40,903,061 (GRCm39) |
G997R |
probably damaging |
Het |
|
Other mutations in Ncstn |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00737:Ncstn
|
APN |
1 |
171,901,968 (GRCm39) |
missense |
probably benign |
0.02 |
IGL02030:Ncstn
|
APN |
1 |
171,900,024 (GRCm39) |
splice site |
probably benign |
|
IGL02498:Ncstn
|
APN |
1 |
171,896,159 (GRCm39) |
missense |
probably benign |
|
morel
|
UTSW |
1 |
171,900,043 (GRCm39) |
missense |
probably damaging |
0.99 |
Pig
|
UTSW |
1 |
171,899,092 (GRCm39) |
missense |
probably damaging |
1.00 |
truffle
|
UTSW |
1 |
171,897,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R0048:Ncstn
|
UTSW |
1 |
171,897,528 (GRCm39) |
splice site |
probably benign |
|
R0480:Ncstn
|
UTSW |
1 |
171,910,159 (GRCm39) |
splice site |
probably benign |
|
R0648:Ncstn
|
UTSW |
1 |
171,895,454 (GRCm39) |
missense |
probably benign |
0.01 |
R0792:Ncstn
|
UTSW |
1 |
171,899,072 (GRCm39) |
missense |
possibly damaging |
0.95 |
R1330:Ncstn
|
UTSW |
1 |
171,899,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R1524:Ncstn
|
UTSW |
1 |
171,899,716 (GRCm39) |
missense |
possibly damaging |
0.58 |
R1660:Ncstn
|
UTSW |
1 |
171,894,339 (GRCm39) |
missense |
possibly damaging |
0.78 |
R1828:Ncstn
|
UTSW |
1 |
171,899,038 (GRCm39) |
frame shift |
probably null |
|
R1892:Ncstn
|
UTSW |
1 |
171,899,038 (GRCm39) |
frame shift |
probably null |
|
R1907:Ncstn
|
UTSW |
1 |
171,899,710 (GRCm39) |
missense |
probably damaging |
0.97 |
R3722:Ncstn
|
UTSW |
1 |
171,895,462 (GRCm39) |
missense |
possibly damaging |
0.50 |
R3876:Ncstn
|
UTSW |
1 |
171,897,640 (GRCm39) |
missense |
probably benign |
0.02 |
R3946:Ncstn
|
UTSW |
1 |
171,895,061 (GRCm39) |
missense |
probably benign |
0.00 |
R3969:Ncstn
|
UTSW |
1 |
171,897,576 (GRCm39) |
missense |
probably damaging |
1.00 |
R4108:Ncstn
|
UTSW |
1 |
171,900,111 (GRCm39) |
missense |
probably damaging |
1.00 |
R4597:Ncstn
|
UTSW |
1 |
171,895,823 (GRCm39) |
nonsense |
probably null |
|
R4998:Ncstn
|
UTSW |
1 |
171,899,087 (GRCm39) |
missense |
possibly damaging |
0.81 |
R5037:Ncstn
|
UTSW |
1 |
171,896,193 (GRCm39) |
missense |
probably damaging |
1.00 |
R5150:Ncstn
|
UTSW |
1 |
171,895,151 (GRCm39) |
intron |
probably benign |
|
R5406:Ncstn
|
UTSW |
1 |
171,899,731 (GRCm39) |
missense |
probably benign |
0.00 |
R5444:Ncstn
|
UTSW |
1 |
171,900,406 (GRCm39) |
missense |
possibly damaging |
0.92 |
R5605:Ncstn
|
UTSW |
1 |
171,908,717 (GRCm39) |
intron |
probably benign |
|
R6675:Ncstn
|
UTSW |
1 |
171,899,095 (GRCm39) |
missense |
probably damaging |
1.00 |
R7268:Ncstn
|
UTSW |
1 |
171,908,830 (GRCm39) |
missense |
possibly damaging |
0.86 |
R7290:Ncstn
|
UTSW |
1 |
171,900,373 (GRCm39) |
missense |
probably benign |
|
R7871:Ncstn
|
UTSW |
1 |
171,903,023 (GRCm39) |
missense |
probably benign |
0.00 |
R8238:Ncstn
|
UTSW |
1 |
171,900,043 (GRCm39) |
missense |
probably damaging |
0.99 |
R9462:Ncstn
|
UTSW |
1 |
171,899,707 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Posted On |
2015-04-16 |