Incidental Mutation 'IGL02414:Psip1'
| ID |
292375 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Psip1
|
| Ensembl Gene |
ENSMUSG00000028484 |
| Gene Name |
PC4 and SFRS1 interacting protein 1 |
| Synonyms |
Psip2 |
| Accession Numbers |
|
| Essential gene? |
Possibly non essential
(E-score: 0.458)
|
| Stock # |
IGL02414
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83373917-83404696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 83386874 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 166
(T166A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030207]
[ENSMUST00000107214]
[ENSMUST00000107215]
[ENSMUST00000124856]
[ENSMUST00000143533]
|
| AlphaFold |
Q99JF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030207
AA Change: T166A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
5 |
62 |
1.98e-17 |
SMART |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
327 |
343 |
N/A |
INTRINSIC |
|
Pfam:LEDGF
|
347 |
448 |
4.4e-33 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107214
AA Change: T166A
PolyPhen 2
Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
|
| SMART Domains |
Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
5 |
62 |
1.98e-17 |
SMART |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000107215
AA Change: T166A
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
AA Change: T166A
| Domain | Start | End | E-Value | Type |
|---|
|
PWWP
|
5 |
62 |
1.98e-17 |
SMART |
|
low complexity region
|
143 |
155 |
N/A |
INTRINSIC |
|
low complexity region
|
212 |
255 |
N/A |
INTRINSIC |
|
low complexity region
|
269 |
290 |
N/A |
INTRINSIC |
|
low complexity region
|
316 |
327 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000124856
|
| SMART Domains |
Protein: ENSMUSP00000124181
Gene: ENSMUSG00000028483
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000126706
|
| SMART Domains |
Protein: ENSMUSP00000120799
Gene: ENSMUSG00000028484
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
1 |
20 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130676
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000143533
|
| SMART Domains |
Protein: ENSMUSP00000123793
Gene: ENSMUSG00000028483
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144349
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Mice homozygous for disruptions in this gene tend to die perinatally. Survivors show reduced fertility and a variety of skeletal and behavioral abnormalities. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ada |
C |
T |
2: 163,571,960 (GRCm39) |
D273N |
probably benign |
Het |
| Btbd9 |
A |
C |
17: 30,439,533 (GRCm39) |
C551W |
possibly damaging |
Het |
| Casp2 |
T |
A |
6: 42,257,380 (GRCm39) |
L443H |
probably damaging |
Het |
| Cdhr3 |
A |
G |
12: 33,092,503 (GRCm39) |
Y703H |
possibly damaging |
Het |
| Clta |
T |
C |
4: 44,030,274 (GRCm39) |
|
probably benign |
Het |
| Cstdc2 |
T |
G |
2: 148,692,598 (GRCm39) |
K68T |
possibly damaging |
Het |
| Dnah8 |
A |
G |
17: 30,919,387 (GRCm39) |
D1120G |
probably benign |
Het |
| Ece2 |
A |
G |
16: 20,459,456 (GRCm39) |
D597G |
probably damaging |
Het |
| Etfdh |
A |
G |
3: 79,511,403 (GRCm39) |
V526A |
probably damaging |
Het |
| Gm14496 |
T |
A |
2: 181,633,198 (GRCm39) |
D60E |
probably benign |
Het |
| Gpr85 |
A |
T |
6: 13,836,909 (GRCm39) |
|
probably benign |
Het |
| Hivep1 |
C |
A |
13: 42,308,385 (GRCm39) |
S208R |
probably damaging |
Het |
| Kif1b |
A |
G |
4: 149,283,771 (GRCm39) |
I1252T |
probably damaging |
Het |
| Knl1 |
T |
C |
2: 118,900,804 (GRCm39) |
V835A |
possibly damaging |
Het |
| Or2d4 |
A |
T |
7: 106,543,965 (GRCm39) |
M81K |
probably benign |
Het |
| Or5ac25 |
C |
T |
16: 59,182,077 (GRCm39) |
C168Y |
probably damaging |
Het |
| Ppwd1 |
T |
G |
13: 104,359,645 (GRCm39) |
I119L |
probably benign |
Het |
| Prex1 |
T |
C |
2: 166,451,748 (GRCm39) |
K410R |
probably damaging |
Het |
| Prm2 |
C |
T |
16: 10,609,754 (GRCm39) |
|
probably benign |
Het |
| Rtel1 |
T |
C |
2: 180,977,765 (GRCm39) |
V98A |
probably benign |
Het |
| Sdsl |
G |
A |
5: 120,600,124 (GRCm39) |
T91I |
probably damaging |
Het |
| Tas2r136 |
A |
G |
6: 132,754,494 (GRCm39) |
M211T |
possibly damaging |
Het |
| Trim43c |
A |
T |
9: 88,723,885 (GRCm39) |
|
probably null |
Het |
| Ttc1 |
T |
C |
11: 43,630,664 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in Psip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02801:Psip1
|
APN |
4 |
83,376,357 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02995:Psip1
|
APN |
4 |
83,381,954 (GRCm39) |
intron |
probably benign |
|
|
IGL03070:Psip1
|
APN |
4 |
83,383,318 (GRCm39) |
missense |
probably damaging |
0.99 |
|
IGL03381:Psip1
|
APN |
4 |
83,404,022 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0167:Psip1
|
UTSW |
4 |
83,385,055 (GRCm39) |
splice site |
probably null |
|
|
R0288:Psip1
|
UTSW |
4 |
83,383,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0365:Psip1
|
UTSW |
4 |
83,403,949 (GRCm39) |
splice site |
probably null |
|
|
R0514:Psip1
|
UTSW |
4 |
83,378,274 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0590:Psip1
|
UTSW |
4 |
83,376,381 (GRCm39) |
missense |
probably benign |
0.00 |
|
R0734:Psip1
|
UTSW |
4 |
83,381,825 (GRCm39) |
intron |
probably benign |
|
|
R0774:Psip1
|
UTSW |
4 |
83,378,689 (GRCm39) |
frame shift |
probably null |
|
|
R1016:Psip1
|
UTSW |
4 |
83,378,135 (GRCm39) |
missense |
possibly damaging |
0.48 |
|
R1256:Psip1
|
UTSW |
4 |
83,392,604 (GRCm39) |
missense |
probably benign |
|
|
R1819:Psip1
|
UTSW |
4 |
83,376,400 (GRCm39) |
missense |
probably benign |
0.01 |
|
R1993:Psip1
|
UTSW |
4 |
83,400,769 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5423:Psip1
|
UTSW |
4 |
83,378,367 (GRCm39) |
intron |
probably benign |
|
|
R5940:Psip1
|
UTSW |
4 |
83,394,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6173:Psip1
|
UTSW |
4 |
83,391,286 (GRCm39) |
splice site |
probably null |
|
|
R6200:Psip1
|
UTSW |
4 |
83,392,610 (GRCm39) |
missense |
probably benign |
0.20 |
|
R6809:Psip1
|
UTSW |
4 |
83,386,879 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7488:Psip1
|
UTSW |
4 |
83,391,275 (GRCm39) |
critical splice donor site |
probably null |
|
|
R8021:Psip1
|
UTSW |
4 |
83,378,192 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R8516:Psip1
|
UTSW |
4 |
83,384,952 (GRCm39) |
missense |
probably benign |
|
|
R9564:Psip1
|
UTSW |
4 |
83,386,888 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
RF005:Psip1
|
UTSW |
4 |
83,378,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
RF024:Psip1
|
UTSW |
4 |
83,378,735 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1176:Psip1
|
UTSW |
4 |
83,378,111 (GRCm39) |
missense |
possibly damaging |
0.61 |
|
| Posted On |
2015-04-16 |
Incidental Mutation