Incidental Mutation 'R1256:Psip1'
ID |
151447 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psip1
|
Ensembl Gene |
ENSMUSG00000028484 |
Gene Name |
PC4 and SFRS1 interacting protein 1 |
Synonyms |
Psip2 |
MMRRC Submission |
039323-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.513)
|
Stock # |
R1256 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
83373917-83404696 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 83392604 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 102
(S102P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000102833
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030207]
[ENSMUST00000107214]
[ENSMUST00000107215]
[ENSMUST00000130626]
|
AlphaFold |
Q99JF8 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000030207
AA Change: S102P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000030207 Gene: ENSMUSG00000028484 AA Change: S102P
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: S102P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102832 Gene: ENSMUSG00000028484 AA Change: S102P
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: S102P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000102833 Gene: ENSMUSG00000028484 AA Change: S102P
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: ENSMUST00000130626
|
SMART Domains |
Protein: ENSMUSP00000121950 Gene: ENSMUSG00000028484
Domain | Start | End | E-Value | Type |
PWWP
|
5 |
62 |
1.98e-17 |
SMART |
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.4%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb10 |
C |
T |
8: 124,688,791 (GRCm39) |
G495D |
probably damaging |
Het |
Apaf1 |
A |
G |
10: 90,894,268 (GRCm39) |
Y456H |
probably benign |
Het |
Arhgef11 |
A |
G |
3: 87,634,442 (GRCm39) |
N791S |
possibly damaging |
Het |
Brat1 |
A |
G |
5: 140,695,962 (GRCm39) |
Q66R |
possibly damaging |
Het |
Capn10 |
C |
T |
1: 92,874,668 (GRCm39) |
T633M |
probably damaging |
Het |
Ccdc186 |
G |
T |
19: 56,786,053 (GRCm39) |
L661I |
probably benign |
Het |
Cln3 |
A |
G |
7: 126,182,208 (GRCm39) |
S4P |
probably damaging |
Het |
Cnot10 |
G |
T |
9: 114,439,749 (GRCm39) |
S520Y |
probably damaging |
Het |
Csmd1 |
A |
T |
8: 16,129,978 (GRCm39) |
F1715I |
probably damaging |
Het |
Ezh2 |
A |
T |
6: 47,518,789 (GRCm39) |
C545* |
probably null |
Het |
Hivep1 |
C |
T |
13: 42,335,307 (GRCm39) |
S2282F |
probably damaging |
Het |
Jag2 |
T |
C |
12: 112,878,039 (GRCm39) |
E564G |
possibly damaging |
Het |
Kcnj16 |
A |
G |
11: 110,916,262 (GRCm39) |
H308R |
probably damaging |
Het |
Magi3 |
C |
T |
3: 103,935,126 (GRCm39) |
V936I |
probably benign |
Het |
Mcu |
G |
T |
10: 59,290,790 (GRCm39) |
A279E |
probably damaging |
Het |
Msln |
A |
G |
17: 25,973,157 (GRCm39) |
C13R |
probably damaging |
Het |
Nes |
A |
G |
3: 87,883,883 (GRCm39) |
D714G |
probably benign |
Het |
Nif3l1 |
T |
A |
1: 58,494,808 (GRCm39) |
V259D |
probably damaging |
Het |
Or4c127 |
A |
T |
2: 89,832,911 (GRCm39) |
M54L |
possibly damaging |
Het |
Or5k14 |
A |
C |
16: 58,693,206 (GRCm39) |
Y102* |
probably null |
Het |
Or8g18 |
G |
C |
9: 39,149,547 (GRCm39) |
P58A |
probably benign |
Het |
Pcdhb9 |
A |
G |
18: 37,536,169 (GRCm39) |
D721G |
possibly damaging |
Het |
Pepd |
A |
C |
7: 34,620,917 (GRCm39) |
T61P |
possibly damaging |
Het |
Pkd1l2 |
C |
T |
8: 117,746,282 (GRCm39) |
|
probably null |
Het |
Poglut3 |
A |
C |
9: 53,299,762 (GRCm39) |
R90S |
possibly damaging |
Het |
Ralgapa1 |
T |
C |
12: 55,809,446 (GRCm39) |
E443G |
possibly damaging |
Het |
Rnf20 |
A |
G |
4: 49,638,230 (GRCm39) |
D114G |
probably benign |
Het |
Schip1 |
A |
T |
3: 68,402,375 (GRCm39) |
I151F |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,659,373 (GRCm39) |
I888V |
probably benign |
Het |
Smg1 |
T |
C |
7: 117,802,310 (GRCm39) |
T263A |
probably damaging |
Het |
Spn |
T |
C |
7: 126,735,445 (GRCm39) |
K354R |
possibly damaging |
Het |
Sspo |
G |
A |
6: 48,434,573 (GRCm39) |
A1022T |
probably damaging |
Het |
Strn |
A |
C |
17: 78,972,046 (GRCm39) |
|
probably null |
Het |
Tstd3 |
T |
C |
4: 21,759,627 (GRCm39) |
I79M |
probably damaging |
Het |
Txnl4a |
A |
G |
18: 80,250,487 (GRCm39) |
I28V |
probably benign |
Het |
Uty |
T |
C |
Y: 1,134,884 (GRCm39) |
D928G |
probably damaging |
Het |
Vps26c |
A |
G |
16: 94,313,225 (GRCm39) |
L22P |
probably damaging |
Het |
Vsx2 |
T |
A |
12: 84,623,085 (GRCm39) |
L163Q |
probably 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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- AACTGTGAAATCCACAGGCAGTACTC -3'
(R):5'- CAGTAGTGCCACTCCCTGATGTAAAAC -3'
Sequencing Primer
(F):5'- AGGCAGTACTCAGAGACCC -3'
(R):5'- AACTTTAATGAGCAGTGGTGC -3'
|
Posted On |
2014-01-29 |