Incidental Mutation 'IGL02995:Psip1'
| ID |
407120 |
| 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 essential
(E-score: 0.513)
|
| Stock # |
IGL02995
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
4 |
| Chromosomal Location |
83373917-83404696 bp(-) (GRCm39) |
| Type of Mutation |
intron |
| DNA Base Change (assembly) |
T to A
at 83381954 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123793
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030207]
[ENSMUST00000107214]
[ENSMUST00000107215]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000143533]
|
| AlphaFold |
Q99JF8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030207
|
| SMART Domains |
Protein: ENSMUSP00000030207
Gene: ENSMUSG00000028484
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102832
Gene: ENSMUSG00000028484
| 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
|
| SMART Domains |
Protein: ENSMUSP00000102833
Gene: ENSMUSG00000028484
| 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: ENSMUST00000144349
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000160742
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000159518
|
| 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: 42 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A530064D06Rik |
A |
G |
17: 48,470,456 (GRCm39) |
V175A |
probably benign |
Het |
| Adam19 |
G |
A |
11: 46,027,176 (GRCm39) |
R603Q |
probably benign |
Het |
| Adam25 |
T |
C |
8: 41,206,760 (GRCm39) |
S9P |
probably benign |
Het |
| Akr1e1 |
T |
A |
13: 4,647,477 (GRCm39) |
|
probably benign |
Het |
| Ano8 |
C |
T |
8: 71,935,761 (GRCm39) |
V286I |
possibly damaging |
Het |
| Baz1a |
C |
T |
12: 54,947,232 (GRCm39) |
R1139H |
probably damaging |
Het |
| Brca2 |
T |
A |
5: 150,452,953 (GRCm39) |
L29H |
probably damaging |
Het |
| Btaf1 |
T |
C |
19: 36,958,535 (GRCm39) |
|
probably benign |
Het |
| C8b |
T |
A |
4: 104,658,525 (GRCm39) |
|
probably benign |
Het |
| Cep295 |
A |
T |
9: 15,244,608 (GRCm39) |
S1283T |
probably damaging |
Het |
| Cyp1a2 |
T |
C |
9: 57,584,511 (GRCm39) |
*514W |
probably null |
Het |
| D2hgdh |
G |
T |
1: 93,757,558 (GRCm39) |
D158Y |
probably damaging |
Het |
| Dennd1b |
G |
A |
1: 139,008,980 (GRCm39) |
V228M |
probably damaging |
Het |
| Fgd6 |
T |
A |
10: 93,881,342 (GRCm39) |
L732* |
probably null |
Het |
| Gm21969 |
G |
A |
4: 139,335,009 (GRCm39) |
G348S |
probably benign |
Het |
| Gprc6a |
C |
T |
10: 51,502,895 (GRCm39) |
V323M |
probably damaging |
Het |
| Gzme |
T |
A |
14: 56,356,166 (GRCm39) |
M111L |
probably damaging |
Het |
| Iars2 |
G |
T |
1: 185,035,498 (GRCm39) |
Q581K |
probably benign |
Het |
| Klra17 |
A |
T |
6: 129,845,647 (GRCm39) |
|
probably null |
Het |
| Klra5 |
A |
T |
6: 129,883,577 (GRCm39) |
D93E |
possibly damaging |
Het |
| Lats2 |
T |
C |
14: 57,937,805 (GRCm39) |
Y228C |
probably damaging |
Het |
| Lrrn3 |
T |
C |
12: 41,502,216 (GRCm39) |
I700M |
probably damaging |
Het |
| Ltb |
A |
T |
17: 35,414,348 (GRCm39) |
|
probably benign |
Het |
| Myo18b |
T |
C |
5: 112,923,279 (GRCm39) |
|
probably benign |
Het |
| Or10a3 |
T |
A |
7: 108,480,198 (GRCm39) |
E205V |
probably damaging |
Het |
| Or11l3 |
A |
G |
11: 58,516,107 (GRCm39) |
M255T |
possibly damaging |
Het |
| Or12d13 |
A |
T |
17: 37,647,600 (GRCm39) |
H174Q |
probably damaging |
Het |
| Or1e35 |
G |
A |
11: 73,798,045 (GRCm39) |
T91M |
possibly damaging |
Het |
| Or1j17 |
C |
T |
2: 36,578,644 (GRCm39) |
P210L |
possibly damaging |
Het |
| Pgap1 |
A |
C |
1: 54,532,509 (GRCm39) |
I670S |
probably benign |
Het |
| Plxna4 |
A |
T |
6: 32,493,530 (GRCm39) |
I362N |
probably damaging |
Het |
| Ppef2 |
C |
T |
5: 92,383,759 (GRCm39) |
W450* |
probably null |
Het |
| Prr27 |
T |
C |
5: 87,990,675 (GRCm39) |
S96P |
probably benign |
Het |
| Rgs3 |
T |
A |
4: 62,544,084 (GRCm39) |
H285Q |
possibly damaging |
Het |
| Ror1 |
T |
C |
4: 100,191,722 (GRCm39) |
|
probably benign |
Het |
| Rps6ka5 |
C |
A |
12: 100,540,258 (GRCm39) |
|
probably benign |
Het |
| Sipa1l1 |
T |
A |
12: 82,404,105 (GRCm39) |
Y533N |
probably benign |
Het |
| Snx6 |
T |
C |
12: 54,842,295 (GRCm39) |
|
probably benign |
Het |
| Tbc1d9 |
T |
A |
8: 83,995,688 (GRCm39) |
|
probably null |
Het |
| Tek |
T |
C |
4: 94,627,877 (GRCm39) |
|
probably benign |
Het |
| Tor2a |
T |
A |
2: 32,651,509 (GRCm39) |
H241Q |
possibly damaging |
Het |
| Wnt5a |
A |
T |
14: 28,244,871 (GRCm39) |
I353F |
probably benign |
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 |
|
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 |
2016-08-02 |
Incidental Mutation