Incidental Mutation 'R6907:Sfpq'
| ID |
538812 |
| Institutional Source |
Beutler Lab
|
| 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 |
| MMRRC Submission |
044999-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6907 (G1)
|
| Quality Score |
217.468 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
126915117-126930806 bp(+) (GRCm39) |
| Type of Mutation |
small deletion (5 aa in frame mutation) |
| DNA Base Change (assembly) |
GCCGCCGCAGCAGCCTCCGCCGCAGCAGCC to GCCGCCGCAGCAGCC
at 126915419 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000030623
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000030623]
|
| AlphaFold |
Q8VIJ6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000030623
|
| SMART Domains |
Protein: ENSMUSP00000030623
Gene: ENSMUSG00000028820
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
| Validation Efficiency |
97% (38/39) |
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adat1 |
T |
C |
8: 112,698,793 (GRCm39) |
I344V |
probably benign |
Het |
| Bmper |
A |
T |
9: 23,310,868 (GRCm39) |
Q434L |
probably damaging |
Het |
| Cabyr |
A |
G |
18: 12,883,969 (GRCm39) |
Y152C |
probably benign |
Het |
| Cactin |
G |
A |
10: 81,159,278 (GRCm39) |
|
probably null |
Het |
| Cadps2 |
T |
C |
6: 23,599,505 (GRCm39) |
D238G |
probably damaging |
Het |
| Card10 |
T |
C |
15: 78,671,671 (GRCm39) |
T598A |
possibly damaging |
Het |
| Ctr9 |
C |
T |
7: 110,629,449 (GRCm39) |
P25L |
probably damaging |
Het |
| Entpd5 |
T |
C |
12: 84,424,127 (GRCm39) |
T409A |
probably benign |
Het |
| Exd1 |
A |
G |
2: 119,363,957 (GRCm39) |
V137A |
probably damaging |
Het |
| Fcgbp |
G |
A |
7: 27,784,443 (GRCm39) |
G168R |
probably damaging |
Het |
| Ift88 |
A |
G |
14: 57,683,067 (GRCm39) |
N248S |
probably benign |
Het |
| Kntc1 |
T |
A |
5: 123,939,888 (GRCm39) |
Y1561N |
probably damaging |
Het |
| Mef2c |
A |
G |
13: 83,802,730 (GRCm39) |
D227G |
probably benign |
Het |
| Myh2 |
C |
T |
11: 67,084,567 (GRCm39) |
T1702M |
probably damaging |
Het |
| Myo1e |
T |
A |
9: 70,234,437 (GRCm39) |
N263K |
probably benign |
Het |
| Nfe2l1 |
A |
G |
11: 96,710,636 (GRCm39) |
L373P |
probably damaging |
Het |
| Nob1 |
C |
T |
8: 108,142,860 (GRCm39) |
V274M |
possibly damaging |
Het |
| Ntng2 |
A |
G |
2: 29,118,218 (GRCm39) |
C77R |
probably damaging |
Het |
| Nynrin |
T |
G |
14: 56,101,335 (GRCm39) |
S335A |
probably benign |
Het |
| Or10ad1c |
T |
C |
15: 98,085,649 (GRCm39) |
N10D |
probably damaging |
Het |
| Or5p55 |
T |
C |
7: 107,567,459 (GRCm39) |
L285P |
probably damaging |
Het |
| Pcdh7 |
T |
A |
5: 57,876,471 (GRCm39) |
W9R |
possibly damaging |
Het |
| Pcdha1 |
A |
G |
18: 37,064,124 (GRCm39) |
T263A |
probably benign |
Het |
| Per3 |
C |
T |
4: 151,128,015 (GRCm39) |
|
probably null |
Het |
| Pgbd5 |
A |
G |
8: 125,107,021 (GRCm39) |
F265L |
probably damaging |
Het |
| Ppm1k |
T |
G |
6: 57,487,755 (GRCm39) |
E356A |
probably benign |
Het |
| Ptgfr |
G |
T |
3: 151,540,938 (GRCm39) |
T190K |
possibly damaging |
Het |
| Sec24a |
A |
G |
11: 51,603,103 (GRCm39) |
Y782H |
probably damaging |
Het |
| Setd1b |
T |
C |
5: 123,301,295 (GRCm39) |
|
probably benign |
Het |
| Slc19a2 |
C |
T |
1: 164,090,323 (GRCm39) |
T253I |
possibly damaging |
Het |
| Tcf4 |
C |
T |
18: 69,785,484 (GRCm39) |
T207M |
probably damaging |
Het |
| Thada |
T |
C |
17: 84,700,897 (GRCm39) |
N1203S |
probably damaging |
Het |
| Tln2 |
A |
T |
9: 67,304,917 (GRCm39) |
S5T |
probably damaging |
Het |
| Traf4 |
C |
T |
11: 78,051,268 (GRCm39) |
R296Q |
probably benign |
Het |
| Ttbk2 |
A |
G |
2: 120,655,751 (GRCm39) |
S38P |
probably benign |
Het |
| Vrk1 |
G |
T |
12: 106,041,291 (GRCm39) |
Q395H |
possibly damaging |
Het |
| Vwa3a |
G |
T |
7: 120,391,804 (GRCm39) |
|
probably benign |
Het |
| Wdsub1 |
C |
T |
2: 59,692,028 (GRCm39) |
V335I |
possibly 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 |
|
IGL00578:Sfpq
|
APN |
4 |
126,919,700 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ATGTCTCGGGATCGGTTCC -3'
(R):5'- GAGATCTTCTCCTCCGTGCG -3'
Sequencing Primer
(F):5'- ATCGGTTCCGGAGTCGC -3'
(R):5'- TCGAGACTCCGCTGCTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation