Incidental Mutation 'IGL03171:Psen1'
| ID |
411854 |
| 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 # |
IGL03171
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
12 |
| Chromosomal Location |
83734926-83781869 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 83761638 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 147
(T147A)
|
| 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: T147A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000048363
Gene: ENSMUSG00000019969
AA Change: T147A
| 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: T147A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000098786
Gene: ENSMUSG00000019969
AA Change: T147A
| 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: ENSMUST00000221993
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000223542
|
| 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: 39 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700003E16Rik |
T |
A |
6: 83,139,377 (GRCm39) |
F434Y |
possibly damaging |
Het |
| Adam19 |
G |
T |
11: 46,029,681 (GRCm39) |
A709S |
probably damaging |
Het |
| Adgrf3 |
A |
T |
5: 30,401,292 (GRCm39) |
L42Q |
probably damaging |
Het |
| D430041D05Rik |
T |
C |
2: 104,071,508 (GRCm39) |
N1264S |
possibly damaging |
Het |
| Dnah9 |
T |
G |
11: 65,872,067 (GRCm39) |
K2721T |
probably benign |
Het |
| Efr3b |
C |
T |
12: 4,018,622 (GRCm39) |
A575T |
probably benign |
Het |
| Esco1 |
T |
C |
18: 10,594,263 (GRCm39) |
E341G |
probably damaging |
Het |
| Ezh2 |
G |
A |
6: 47,517,715 (GRCm39) |
R574* |
probably null |
Het |
| Fam169a |
G |
T |
13: 97,246,522 (GRCm39) |
|
probably benign |
Het |
| Fry |
T |
C |
5: 150,304,274 (GRCm39) |
Y555H |
probably damaging |
Het |
| Gm17175 |
A |
C |
14: 51,809,065 (GRCm39) |
S100R |
probably damaging |
Het |
| Gm527 |
T |
C |
12: 64,967,931 (GRCm39) |
Y118H |
probably damaging |
Het |
| H2-M10.4 |
G |
T |
17: 36,772,142 (GRCm39) |
T202N |
probably damaging |
Het |
| Ift70a1 |
C |
T |
2: 75,810,851 (GRCm39) |
A411T |
probably benign |
Het |
| Igf1 |
A |
T |
10: 87,700,683 (GRCm39) |
T36S |
probably damaging |
Het |
| Ints8 |
C |
T |
4: 11,231,702 (GRCm39) |
V428I |
probably benign |
Het |
| Itga6 |
G |
A |
2: 71,671,673 (GRCm39) |
|
probably null |
Het |
| Jmjd1c |
A |
G |
10: 67,061,277 (GRCm39) |
E1210G |
possibly damaging |
Het |
| Kdm2a |
A |
T |
19: 4,406,792 (GRCm39) |
V134E |
probably damaging |
Het |
| Limch1 |
C |
A |
5: 67,191,537 (GRCm39) |
N947K |
possibly damaging |
Het |
| Met |
T |
C |
6: 17,562,272 (GRCm39) |
|
probably benign |
Het |
| Neb |
A |
G |
2: 52,106,376 (GRCm39) |
|
probably benign |
Het |
| Ogg1 |
A |
G |
6: 113,310,375 (GRCm39) |
I274V |
possibly damaging |
Het |
| Ola1 |
A |
T |
2: 72,987,197 (GRCm39) |
I145K |
probably benign |
Het |
| Or2r11 |
G |
A |
6: 42,437,464 (GRCm39) |
T163I |
possibly damaging |
Het |
| Pacrg |
A |
G |
17: 10,795,462 (GRCm39) |
V166A |
possibly damaging |
Het |
| Pira2 |
T |
A |
7: 3,845,604 (GRCm39) |
E260V |
probably damaging |
Het |
| Prickle3 |
T |
C |
X: 7,531,526 (GRCm39) |
C277R |
probably damaging |
Het |
| Pxk |
C |
T |
14: 8,151,014 (GRCm38) |
|
probably benign |
Het |
| Scn11a |
G |
A |
9: 119,648,913 (GRCm39) |
P50L |
probably benign |
Het |
| Scn4a |
C |
A |
11: 106,236,418 (GRCm39) |
V281L |
probably benign |
Het |
| Shcbp1 |
A |
G |
8: 4,789,166 (GRCm39) |
I551T |
probably benign |
Het |
| Snx13 |
T |
A |
12: 35,150,539 (GRCm39) |
I281N |
probably benign |
Het |
| Spata31e4 |
T |
A |
13: 50,856,388 (GRCm39) |
S675R |
probably benign |
Het |
| Spopfm1 |
C |
A |
3: 94,173,762 (GRCm39) |
H257N |
probably benign |
Het |
| Tdo2 |
T |
C |
3: 81,874,336 (GRCm39) |
K209E |
probably benign |
Het |
| Trip6 |
C |
T |
5: 137,311,146 (GRCm39) |
R190Q |
probably benign |
Het |
| Ubqln1 |
T |
A |
13: 58,328,672 (GRCm39) |
E426D |
probably damaging |
Het |
| Zfp607b |
C |
A |
7: 27,393,020 (GRCm39) |
N49K |
possibly damaging |
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 |
|
IGL00793:Psen1
|
APN |
12 |
83,769,792 (GRCm39) |
missense |
probably damaging |
0.98 |
|
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 |
2016-08-02 |
Incidental Mutation