Incidental Mutation 'IGL03070:Psip1'
| ID |
417491 |
| 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 # |
IGL03070
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83373917-83404696 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to G
at 83383318 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Asparagine
at position 232
(K232N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000102832
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030207]
[ENSMUST00000107214]
[ENSMUST00000107215]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000143533]
|
| AlphaFold |
Q99JF8 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000030207
AA Change: K232N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
AA Change: K232N
| 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 damaging
Transcript: ENSMUST00000107214
AA Change: K232N
PolyPhen 2
Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
AA Change: K232N
| 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 |
possibly damaging
Transcript: ENSMUST00000107215
AA Change: K232N
PolyPhen 2
Score 0.954 (Sensitivity: 0.79; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
AA Change: K232N
| 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: ENSMUST00000123262
|
| SMART Domains |
Protein: ENSMUSP00000124038
Gene: ENSMUSG00000028483
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:zf-SNAP50_C
|
197 |
403 |
3.3e-76 |
PFAM |
|
| 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 |
noncoding transcript
Transcript: ENSMUST00000159518
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000152382
|
| 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 |
|
| 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: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adam3 |
T |
C |
8: 25,193,800 (GRCm39) |
E404G |
probably damaging |
Het |
| Arid1a |
A |
G |
4: 133,422,064 (GRCm39) |
S778P |
unknown |
Het |
| Asah2 |
A |
T |
19: 31,983,744 (GRCm39) |
Y567N |
probably damaging |
Het |
| Crb1 |
G |
T |
1: 139,168,996 (GRCm39) |
H841N |
possibly damaging |
Het |
| Ehbp1l1 |
A |
G |
19: 5,765,981 (GRCm39) |
V1454A |
probably benign |
Het |
| Eif3d |
A |
G |
15: 77,843,843 (GRCm39) |
L501P |
probably damaging |
Het |
| Fbxo4 |
A |
T |
15: 4,007,344 (GRCm39) |
S107T |
possibly damaging |
Het |
| Galnt10 |
T |
C |
11: 57,616,408 (GRCm39) |
Y108H |
probably damaging |
Het |
| Hspbap1 |
T |
A |
16: 35,639,096 (GRCm39) |
D263E |
probably damaging |
Het |
| Kpna3 |
T |
C |
14: 61,608,231 (GRCm39) |
|
probably benign |
Het |
| Miox |
A |
G |
15: 89,220,287 (GRCm39) |
T160A |
possibly damaging |
Het |
| Mlxipl |
G |
A |
5: 135,161,307 (GRCm39) |
V409M |
possibly damaging |
Het |
| Mrps21 |
A |
T |
3: 95,777,897 (GRCm39) |
|
probably benign |
Het |
| Muc6 |
A |
G |
7: 141,230,834 (GRCm39) |
|
probably benign |
Het |
| Mup6 |
A |
T |
4: 60,003,999 (GRCm39) |
I31F |
probably damaging |
Het |
| Or52s1 |
A |
G |
7: 102,861,904 (GRCm39) |
H279R |
probably benign |
Het |
| Pabir1 |
A |
C |
19: 24,454,316 (GRCm39) |
D135E |
probably damaging |
Het |
| Pgr |
T |
A |
9: 8,903,665 (GRCm39) |
I562N |
possibly damaging |
Het |
| Prag1 |
T |
A |
8: 36,570,703 (GRCm39) |
W429R |
probably benign |
Het |
| Prrc2c |
G |
T |
1: 162,504,978 (GRCm39) |
P2621Q |
probably damaging |
Het |
| Ryr1 |
T |
C |
7: 28,770,084 (GRCm39) |
Y2663C |
probably damaging |
Het |
| Trhr2 |
T |
A |
8: 123,085,342 (GRCm39) |
Q214L |
probably benign |
Het |
| Txndc11 |
A |
T |
16: 10,893,151 (GRCm39) |
Y860N |
probably damaging |
Het |
| Uqcc6 |
A |
T |
10: 82,455,950 (GRCm39) |
|
probably benign |
Het |
| Vmn2r72 |
C |
T |
7: 85,401,249 (GRCm39) |
|
probably benign |
Het |
| Yif1a |
T |
A |
19: 5,138,757 (GRCm39) |
H4Q |
possibly damaging |
Het |
|
| Other mutations in Psip1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02414:Psip1
|
APN |
4 |
83,386,874 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL02801:Psip1
|
APN |
4 |
83,376,357 (GRCm39) |
missense |
probably benign |
0.02 |
|
IGL02995:Psip1
|
APN |
4 |
83,381,954 (GRCm39) |
intron |
probably benign |
|
|
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 |
2016-08-02 |
Incidental Mutation