Incidental Mutation 'IGL00578:Sfpq'
ID |
14000 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sfpq
|
Ensembl Gene |
ENSMUSG00000028820 |
Gene Name |
splicing factor proline/glutamine rich (polypyrimidine tract binding protein associated) |
Synonyms |
1110004P21Rik, 5730453G22Rik, 9030402K04Rik, 2810416M14Rik, PSF, REP1, D4Ertd314e |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00578
|
Quality Score |
|
Status
|
|
Chromosome |
4 |
Chromosomal Location |
126915117-126930806 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 126919700 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Histidine
at position 482
(Y482H)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000030623
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030623]
|
AlphaFold |
Q8VIJ6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000030623
AA Change: Y482H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000030623 Gene: ENSMUSG00000028820 AA Change: Y482H
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
33 |
N/A |
INTRINSIC |
low complexity region
|
48 |
101 |
N/A |
INTRINSIC |
low complexity region
|
105 |
236 |
N/A |
INTRINSIC |
low complexity region
|
238 |
258 |
N/A |
INTRINSIC |
RRM
|
290 |
357 |
3.97e-18 |
SMART |
RRM
|
364 |
440 |
3.83e-11 |
SMART |
low complexity region
|
526 |
544 |
N/A |
INTRINSIC |
low complexity region
|
554 |
587 |
N/A |
INTRINSIC |
low complexity region
|
595 |
614 |
N/A |
INTRINSIC |
low complexity region
|
617 |
639 |
N/A |
INTRINSIC |
low complexity region
|
660 |
680 |
N/A |
INTRINSIC |
low complexity region
|
682 |
692 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125453
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000140682
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000143168
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000144630
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000146285
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
PHENOTYPE: Mice homozygous for a gene trap allele die. Heterozygous mice show abnormality in entrainment of circadian rhythm. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 21 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aebp1 |
A |
G |
11: 5,821,787 (GRCm39) |
T729A |
possibly damaging |
Het |
Ank3 |
C |
A |
10: 69,838,224 (GRCm39) |
S864Y |
possibly damaging |
Het |
Ankrd44 |
G |
A |
1: 54,701,806 (GRCm39) |
|
probably benign |
Het |
Atp11c |
C |
T |
X: 59,286,177 (GRCm39) |
G996R |
probably damaging |
Het |
Col11a1 |
A |
G |
3: 113,987,755 (GRCm39) |
T250A |
possibly damaging |
Het |
Cox8a |
T |
A |
19: 7,192,770 (GRCm39) |
Y65F |
probably damaging |
Het |
Ctnnd1 |
G |
T |
2: 84,439,969 (GRCm39) |
N451K |
probably damaging |
Het |
D630045J12Rik |
T |
C |
6: 38,171,865 (GRCm39) |
T768A |
probably benign |
Het |
Esyt1 |
A |
G |
10: 128,347,612 (GRCm39) |
S999P |
probably damaging |
Het |
Fyco1 |
A |
G |
9: 123,667,962 (GRCm39) |
I88T |
probably damaging |
Het |
Kdm2b |
A |
G |
5: 123,099,630 (GRCm39) |
V103A |
probably damaging |
Het |
Klk1b26 |
T |
C |
7: 43,666,309 (GRCm39) |
S251P |
probably benign |
Het |
Krtap16-1 |
A |
G |
11: 99,876,121 (GRCm39) |
S428P |
probably benign |
Het |
Lrp1b |
C |
T |
2: 40,569,185 (GRCm39) |
V210I |
unknown |
Het |
Mapk8ip3 |
A |
T |
17: 25,119,793 (GRCm39) |
D1018E |
probably damaging |
Het |
Nxph2 |
T |
A |
2: 23,290,334 (GRCm39) |
C229S |
probably damaging |
Het |
Prickle1 |
A |
G |
15: 93,398,662 (GRCm39) |
L722P |
probably benign |
Het |
Rbm12 |
A |
T |
2: 155,937,961 (GRCm39) |
|
probably benign |
Het |
Rimoc1 |
C |
A |
15: 4,018,118 (GRCm39) |
G186C |
probably damaging |
Het |
Sycp2 |
T |
C |
2: 177,992,615 (GRCm39) |
|
probably benign |
Het |
Unc5b |
A |
G |
10: 60,602,834 (GRCm39) |
I866T |
probably damaging |
Het |
|
Other mutations in Sfpq |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00539:Sfpq
|
APN |
4 |
126,917,481 (GRCm39) |
missense |
possibly damaging |
0.80 |
IGL01301:Sfpq
|
APN |
4 |
126,920,553 (GRCm39) |
splice site |
probably benign |
|
IGL02385:Sfpq
|
APN |
4 |
126,919,929 (GRCm39) |
splice site |
probably null |
|
IGL03373:Sfpq
|
APN |
4 |
126,920,578 (GRCm39) |
missense |
possibly damaging |
0.92 |
R0645:Sfpq
|
UTSW |
4 |
126,916,762 (GRCm39) |
missense |
possibly damaging |
0.75 |
R2038:Sfpq
|
UTSW |
4 |
126,915,295 (GRCm39) |
missense |
unknown |
|
R3120:Sfpq
|
UTSW |
4 |
126,915,926 (GRCm39) |
missense |
unknown |
|
R4609:Sfpq
|
UTSW |
4 |
126,915,404 (GRCm39) |
missense |
unknown |
|
R4788:Sfpq
|
UTSW |
4 |
126,919,791 (GRCm39) |
missense |
probably damaging |
1.00 |
R5034:Sfpq
|
UTSW |
4 |
126,917,462 (GRCm39) |
splice site |
probably benign |
|
R5411:Sfpq
|
UTSW |
4 |
126,915,516 (GRCm39) |
missense |
unknown |
|
R6115:Sfpq
|
UTSW |
4 |
126,915,141 (GRCm39) |
start gained |
probably null |
|
R6906:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
R6907:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
R6908:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
R6929:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
R6933:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
R7029:Sfpq
|
UTSW |
4 |
126,923,675 (GRCm39) |
missense |
probably benign |
0.23 |
R7124:Sfpq
|
UTSW |
4 |
126,919,725 (GRCm39) |
missense |
possibly damaging |
0.50 |
R8752:Sfpq
|
UTSW |
4 |
126,919,969 (GRCm39) |
missense |
possibly damaging |
0.47 |
R9041:Sfpq
|
UTSW |
4 |
126,915,296 (GRCm39) |
missense |
unknown |
|
R9111:Sfpq
|
UTSW |
4 |
126,915,401 (GRCm39) |
small deletion |
probably benign |
|
R9125:Sfpq
|
UTSW |
4 |
126,915,633 (GRCm39) |
missense |
unknown |
|
R9288:Sfpq
|
UTSW |
4 |
126,916,627 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Posted On |
2012-12-06 |