Incidental Mutation 'R0167:Psip1'
ID |
258003 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Psip1
|
Ensembl Gene |
ENSMUSG00000028484 |
Gene Name |
PC4 and SFRS1 interacting protein 1 |
Synonyms |
Psip2 |
MMRRC Submission |
038443-MU
|
Accession Numbers |
|
Essential gene? |
Possibly non essential
(E-score: 0.458)
|
Stock # |
R0167 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
83373917-83404696 bp(-) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to C
at 83385055 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030207]
[ENSMUST00000107214]
[ENSMUST00000107215]
[ENSMUST00000123262]
[ENSMUST00000124856]
[ENSMUST00000143533]
|
AlphaFold |
Q99JF8 |
Predicted Effect |
probably null
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 null
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 null
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 null
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 |
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 |
- 1x: 99.1%
- 3x: 98.3%
- 10x: 96.4%
- 20x: 92.7%
|
Validation Efficiency |
95% (58/61) |
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: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Actl11 |
T |
C |
9: 107,806,969 (GRCm39) |
F431L |
probably damaging |
Het |
Ahrr |
G |
A |
13: 74,431,143 (GRCm39) |
|
probably benign |
Het |
Bltp3a |
C |
T |
17: 28,099,176 (GRCm39) |
T246M |
possibly damaging |
Het |
Bsn |
T |
C |
9: 108,003,185 (GRCm39) |
T407A |
probably benign |
Het |
Ccdc96 |
T |
C |
5: 36,642,497 (GRCm39) |
F168L |
probably benign |
Het |
Cckar |
A |
T |
5: 53,863,795 (GRCm39) |
S55R |
probably damaging |
Het |
Cdh5 |
A |
C |
8: 104,863,367 (GRCm39) |
I426L |
possibly damaging |
Het |
Clcn1 |
T |
C |
6: 42,263,770 (GRCm39) |
Y24H |
probably damaging |
Het |
Clpx |
G |
A |
9: 65,224,019 (GRCm39) |
R271K |
possibly damaging |
Het |
Col6a3 |
C |
T |
1: 90,725,895 (GRCm39) |
G1978D |
probably damaging |
Het |
Cpne2 |
T |
C |
8: 95,295,207 (GRCm39) |
|
probably benign |
Het |
D630023F18Rik |
A |
G |
1: 65,156,340 (GRCm39) |
V51A |
possibly damaging |
Het |
Dcaf4 |
G |
A |
12: 83,582,762 (GRCm39) |
|
probably benign |
Het |
Dlk2 |
C |
A |
17: 46,613,530 (GRCm39) |
R262S |
possibly damaging |
Het |
Dubr |
G |
T |
16: 50,553,007 (GRCm39) |
|
noncoding transcript |
Het |
Elane |
T |
A |
10: 79,722,933 (GRCm39) |
|
probably null |
Het |
Eya2 |
T |
G |
2: 165,558,032 (GRCm39) |
S209R |
possibly damaging |
Het |
Fam171a1 |
C |
T |
2: 3,187,469 (GRCm39) |
S112L |
probably damaging |
Het |
Fsip2 |
T |
A |
2: 82,811,151 (GRCm39) |
M2490K |
possibly damaging |
Het |
Galnt14 |
T |
C |
17: 73,829,715 (GRCm39) |
T277A |
probably damaging |
Het |
Golga1 |
T |
C |
2: 38,937,660 (GRCm39) |
N128S |
probably benign |
Het |
H1f6 |
T |
C |
13: 23,879,886 (GRCm39) |
V13A |
probably benign |
Het |
Hdac2 |
T |
C |
10: 36,876,368 (GRCm39) |
V461A |
probably benign |
Het |
Hey2 |
A |
G |
10: 30,716,661 (GRCm39) |
V34A |
probably benign |
Het |
Ift22 |
T |
C |
5: 136,940,745 (GRCm39) |
C137R |
probably benign |
Het |
Lrp2 |
T |
C |
2: 69,256,002 (GRCm39) |
D4657G |
possibly damaging |
Het |
Lrrn3 |
T |
A |
12: 41,504,014 (GRCm39) |
Q101L |
probably damaging |
Het |
Med25 |
A |
G |
7: 44,532,521 (GRCm39) |
|
probably null |
Het |
Mup5 |
T |
A |
4: 61,752,019 (GRCm39) |
|
probably null |
Het |
Or51aa5 |
A |
T |
7: 103,166,708 (GRCm39) |
Y294* |
probably null |
Het |
Or5ac23 |
A |
T |
16: 59,149,337 (GRCm39) |
C178* |
probably null |
Het |
Or9q2 |
T |
C |
19: 13,772,931 (GRCm39) |
T15A |
probably benign |
Het |
Otog |
G |
A |
7: 45,953,655 (GRCm39) |
V2638M |
probably damaging |
Het |
Parg |
T |
C |
14: 31,939,693 (GRCm39) |
|
probably null |
Het |
Prep |
A |
G |
10: 45,034,326 (GRCm39) |
|
probably null |
Het |
Prss1l |
T |
A |
6: 41,373,195 (GRCm39) |
|
probably benign |
Het |
Rbbp8 |
T |
A |
18: 11,793,979 (GRCm39) |
Y30* |
probably null |
Het |
Rhbdd1 |
T |
C |
1: 82,320,505 (GRCm39) |
V163A |
probably benign |
Het |
Setd2 |
T |
A |
9: 110,402,850 (GRCm39) |
N1830K |
probably damaging |
Het |
Shc4 |
T |
G |
2: 125,564,933 (GRCm39) |
N122T |
probably benign |
Het |
Shroom3 |
T |
C |
5: 93,096,254 (GRCm39) |
|
probably benign |
Het |
Snx14 |
A |
T |
9: 88,289,469 (GRCm39) |
L261Q |
probably damaging |
Het |
St8sia1 |
A |
G |
6: 142,859,907 (GRCm39) |
|
probably benign |
Het |
Thbs2 |
A |
T |
17: 14,887,787 (GRCm39) |
|
probably benign |
Het |
Tpp2 |
T |
C |
1: 44,009,648 (GRCm39) |
V494A |
probably benign |
Het |
Trdmt1 |
A |
T |
2: 13,520,829 (GRCm39) |
F358I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,719,867 (GRCm39) |
|
probably benign |
Het |
Uggt1 |
A |
G |
1: 36,209,278 (GRCm39) |
|
probably null |
Het |
Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
Vstm2a |
T |
A |
11: 16,208,044 (GRCm39) |
F13I |
probably damaging |
Het |
Zfp804a |
T |
G |
2: 82,086,860 (GRCm39) |
F230V |
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 |
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 |
|
Predicted Primers |
|
Posted On |
2015-01-14 |