Incidental Mutation 'IGL02030:Ncstn'
| ID |
184346 |
| 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 # |
IGL02030
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
171893580-171910356 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
A to T
at 171900024 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000120663
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000003550]
[ENSMUST00000140643]
[ENSMUST00000146137]
|
| AlphaFold |
P57716 |
| Predicted Effect |
probably benign
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 |
noncoding transcript
Transcript: ENSMUST00000122986
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000135928
|
| 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 |
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: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam26a |
T |
C |
8: 44,021,894 (GRCm39) |
D532G |
probably benign |
Het |
| Adam29 |
C |
T |
8: 56,325,157 (GRCm39) |
M432I |
probably benign |
Het |
| Cbs |
A |
G |
17: 31,844,463 (GRCm39) |
|
probably null |
Het |
| Ccer1 |
A |
G |
10: 97,529,472 (GRCm39) |
Y45C |
unknown |
Het |
| Clu |
G |
A |
14: 66,213,240 (GRCm39) |
G209S |
probably benign |
Het |
| Ddx17 |
T |
C |
15: 79,414,577 (GRCm39) |
D530G |
probably benign |
Het |
| Ddx4 |
T |
C |
13: 112,761,311 (GRCm39) |
|
probably benign |
Het |
| Fry |
C |
T |
5: 150,395,083 (GRCm39) |
|
probably benign |
Het |
| Fut10 |
C |
T |
8: 31,726,006 (GRCm39) |
Q254* |
probably null |
Het |
| Gucy2e |
A |
G |
11: 69,114,642 (GRCm39) |
F1002S |
probably damaging |
Het |
| Hsd3b6 |
T |
C |
3: 98,713,489 (GRCm39) |
Y270C |
probably benign |
Het |
| Jup |
A |
G |
11: 100,267,817 (GRCm39) |
I502T |
probably damaging |
Het |
| Lrrc71 |
T |
A |
3: 87,652,531 (GRCm39) |
|
probably null |
Het |
| Mei1 |
T |
C |
15: 81,999,944 (GRCm39) |
V1127A |
probably benign |
Het |
| Nin |
T |
C |
12: 70,092,042 (GRCm39) |
R756G |
probably damaging |
Het |
| Notch2 |
C |
A |
3: 98,006,737 (GRCm39) |
|
probably null |
Het |
| Oacyl |
T |
C |
18: 65,870,981 (GRCm39) |
V394A |
probably damaging |
Het |
| Or1j19 |
A |
G |
2: 36,677,410 (GRCm39) |
Y291C |
probably damaging |
Het |
| Or5b21 |
T |
C |
19: 12,839,799 (GRCm39) |
F220S |
probably benign |
Het |
| Or6b13 |
A |
G |
7: 139,782,545 (GRCm39) |
I46T |
probably damaging |
Het |
| Parn |
A |
G |
16: 13,482,514 (GRCm39) |
|
probably null |
Het |
| Rspo3 |
T |
G |
10: 29,376,044 (GRCm39) |
E173A |
probably damaging |
Het |
| Rusc2 |
T |
A |
4: 43,416,095 (GRCm39) |
V467E |
possibly damaging |
Het |
| Sema7a |
G |
A |
9: 57,862,423 (GRCm39) |
E209K |
possibly damaging |
Het |
| Uchl4 |
T |
C |
9: 64,142,911 (GRCm39) |
S131P |
probably benign |
Het |
| Usp54 |
T |
C |
14: 20,616,014 (GRCm39) |
I769V |
probably benign |
Het |
| Xirp2 |
T |
C |
2: 67,339,325 (GRCm39) |
M522T |
probably benign |
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 |
|
IGL02470:Ncstn
|
APN |
1 |
171,910,166 (GRCm39) |
critical splice donor site |
probably null |
|
|
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 |
2014-05-07 |
Incidental Mutation