Incidental Mutation 'IGL00793:Psen1'
| ID |
13197 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psen1
|
| Ensembl Gene |
ENSMUSG00000019969 |
| Gene Name |
presenilin 1 |
| Synonyms |
PS1, presenilin-1, Ad3h, S182, PS-1 |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL00793
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83734926-83781869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 83769792 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Threonine
at position 170
(S170T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000098786
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000041806]
[ENSMUST00000101225]
|
| AlphaFold |
P49769 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000041806
AA Change: S170T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000048363
Gene: ENSMUSG00000019969
AA Change: S170T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
Blast:PSN
|
75 |
113 |
1e-12 |
BLAST |
|
PSN
|
130 |
453 |
2.03e-150 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000101225
AA Change: S170T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000098786
Gene: ENSMUSG00000019969
AA Change: S170T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
61 |
72 |
N/A |
INTRINSIC |
|
Blast:PSN
|
75 |
113 |
1e-12 |
BLAST |
|
PSN
|
130 |
453 |
2.03e-150 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221072
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000221993
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Alzheimer's disease (AD) patients with an inherited form of the disease carry mutations in the presenilin proteins (PSEN1; PSEN2) or in the amyloid precursor protein (APP). These disease-linked mutations result in increased production of the longer form of amyloid-beta (main component of amyloid deposits found in AD brains). Presenilins are postulated to regulate APP processing through their effects on gamma-secretase, an enzyme that cleaves APP. Also, it is thought that the presenilins are involved in the cleavage of the Notch receptor, such that they either directly regulate gamma-secretase activity or themselves are protease enzymes. Several alternatively spliced transcript variants encoding different isoforms have been identified for this gene, the full-length nature of only some have been determined. [provided by RefSeq, Aug 2008]
PHENOTYPE: Homozygotes for targeted null mutations exhibit deformed axial skeletons, reduced Notch signaling, impaired brain growth with a deficiency of neural stem cells, cerebral hemorrhages, inhibited cleavage of amyloid precursor protein, and perinatal death. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700102P08Rik |
A |
G |
9: 108,274,605 (GRCm39) |
D236G |
probably damaging |
Het |
| 5031410I06Rik |
T |
C |
5: 26,309,153 (GRCm39) |
R50G |
probably damaging |
Het |
| Adam32 |
A |
T |
8: 25,327,846 (GRCm39) |
|
probably benign |
Het |
| Adm |
A |
G |
7: 110,227,788 (GRCm39) |
Y52C |
probably damaging |
Het |
| Aff4 |
A |
G |
11: 53,302,817 (GRCm39) |
T1097A |
probably damaging |
Het |
| Ccne1 |
A |
C |
7: 37,805,726 (GRCm39) |
V50G |
probably benign |
Het |
| Copb2 |
A |
G |
9: 98,467,057 (GRCm39) |
T636A |
probably benign |
Het |
| Cxadr |
C |
A |
16: 78,131,115 (GRCm39) |
Y210* |
probably null |
Het |
| Dnajc17 |
T |
C |
2: 119,011,441 (GRCm39) |
E163G |
probably benign |
Het |
| Dnmt3b |
T |
A |
2: 153,514,422 (GRCm39) |
M405K |
possibly damaging |
Het |
| Enpp7 |
A |
T |
11: 118,881,371 (GRCm39) |
N172I |
probably damaging |
Het |
| G2e3 |
T |
A |
12: 51,414,545 (GRCm39) |
S340T |
probably benign |
Het |
| Kat2b |
A |
G |
17: 53,972,852 (GRCm39) |
N722S |
probably benign |
Het |
| Kcnh5 |
C |
A |
12: 75,161,120 (GRCm39) |
V263F |
probably damaging |
Het |
| Ldlrad1 |
A |
G |
4: 107,075,086 (GRCm39) |
D211G |
probably damaging |
Het |
| Lrp1 |
A |
G |
10: 127,378,074 (GRCm39) |
V4082A |
possibly damaging |
Het |
| Maco1 |
A |
G |
4: 134,555,517 (GRCm39) |
S319P |
probably damaging |
Het |
| Mycbp2 |
A |
T |
14: 103,364,189 (GRCm39) |
V4370D |
possibly damaging |
Het |
| Npsr1 |
G |
T |
9: 24,165,989 (GRCm39) |
R125L |
probably damaging |
Het |
| Osbpl9 |
T |
C |
4: 108,944,628 (GRCm39) |
I116V |
probably damaging |
Het |
| Parp4 |
G |
T |
14: 56,840,334 (GRCm39) |
A580S |
possibly damaging |
Het |
| Pfkm |
T |
C |
15: 98,023,475 (GRCm39) |
V391A |
probably benign |
Het |
| Rsbn1l |
C |
T |
5: 21,101,153 (GRCm39) |
V796I |
probably benign |
Het |
| Slc39a8 |
A |
G |
3: 135,590,494 (GRCm39) |
I396V |
probably benign |
Het |
| Spag16 |
T |
C |
1: 70,338,809 (GRCm39) |
C436R |
probably damaging |
Het |
| Stpg1 |
A |
G |
4: 135,233,718 (GRCm39) |
|
probably benign |
Het |
| Tmem86b |
A |
G |
7: 4,631,756 (GRCm39) |
|
probably benign |
Het |
| Trf |
A |
G |
9: 103,103,342 (GRCm39) |
|
probably benign |
Het |
| Trim61 |
A |
T |
8: 65,466,743 (GRCm39) |
Y173N |
possibly damaging |
Het |
| Wrap73 |
T |
C |
4: 154,237,096 (GRCm39) |
S228P |
probably damaging |
Het |
| Zfc3h1 |
T |
C |
10: 115,252,779 (GRCm39) |
V1364A |
probably benign |
Het |
|
| Other mutations in Psen1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00580:Psen1
|
APN |
12 |
83,777,343 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL03171:Psen1
|
APN |
12 |
83,761,638 (GRCm39) |
missense |
probably damaging |
1.00 |
|
hiortron
|
UTSW |
12 |
83,771,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0685:Psen1
|
UTSW |
12 |
83,761,594 (GRCm39) |
nonsense |
probably null |
|
|
R1394:Psen1
|
UTSW |
12 |
83,771,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1395:Psen1
|
UTSW |
12 |
83,771,346 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1681:Psen1
|
UTSW |
12 |
83,771,394 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2257:Psen1
|
UTSW |
12 |
83,761,594 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4833:Psen1
|
UTSW |
12 |
83,778,552 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5077:Psen1
|
UTSW |
12 |
83,771,439 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5170:Psen1
|
UTSW |
12 |
83,761,636 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5782:Psen1
|
UTSW |
12 |
83,759,233 (GRCm39) |
missense |
possibly damaging |
0.54 |
|
R5804:Psen1
|
UTSW |
12 |
83,778,474 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7458:Psen1
|
UTSW |
12 |
83,761,540 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7494:Psen1
|
UTSW |
12 |
83,775,017 (GRCm39) |
missense |
probably benign |
0.19 |
|
R7797:Psen1
|
UTSW |
12 |
83,746,396 (GRCm39) |
missense |
probably benign |
0.02 |
|
R8547:Psen1
|
UTSW |
12 |
83,761,630 (GRCm39) |
missense |
possibly damaging |
0.68 |
|
R9286:Psen1
|
UTSW |
12 |
83,775,549 (GRCm39) |
missense |
probably benign |
|
|
| Posted On |
2012-12-06 |
Incidental Mutation