Incidental Mutation 'R6929:Sfpq'
| ID |
539893 |
| 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 |
045007-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6929 (G1)
|
| Quality Score |
214.468 |
|
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: 99.2%
- 20x: 97.4%
|
| Validation Efficiency |
92% (35/38) |
| 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: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adamts13 |
A |
T |
2: 26,896,275 (GRCm39) |
R1223* |
probably null |
Het |
| Adgrb3 |
A |
T |
1: 25,150,852 (GRCm39) |
L1127* |
probably null |
Het |
| Ankrd17 |
A |
T |
5: 90,433,384 (GRCm39) |
V727D |
possibly damaging |
Het |
| Ankub1 |
A |
T |
3: 57,572,854 (GRCm39) |
C289* |
probably null |
Het |
| C2 |
T |
A |
17: 35,083,323 (GRCm39) |
I242F |
possibly damaging |
Het |
| C2cd3 |
T |
C |
7: 100,100,826 (GRCm39) |
L653P |
probably damaging |
Het |
| Cacna1b |
A |
G |
2: 24,522,022 (GRCm39) |
V1696A |
probably damaging |
Het |
| Cep295 |
A |
G |
9: 15,244,358 (GRCm39) |
I1366T |
probably damaging |
Het |
| Chd9 |
T |
C |
8: 91,769,573 (GRCm39) |
L2553P |
probably damaging |
Het |
| Cited4 |
C |
A |
4: 120,524,244 (GRCm39) |
T82K |
probably benign |
Het |
| Dnah6 |
A |
T |
6: 73,021,756 (GRCm39) |
M3470K |
probably damaging |
Het |
| Exosc3 |
G |
T |
4: 45,320,482 (GRCm39) |
P37Q |
probably damaging |
Het |
| Fam120b |
C |
A |
17: 15,643,290 (GRCm39) |
Q690K |
possibly damaging |
Het |
| Fyb1 |
T |
C |
15: 6,668,388 (GRCm39) |
I527T |
probably damaging |
Het |
| Gm32742 |
A |
G |
9: 51,065,579 (GRCm39) |
L459P |
probably benign |
Het |
| Gm45861 |
A |
G |
8: 28,014,462 (GRCm39) |
D655G |
unknown |
Het |
| Ifi203 |
A |
G |
1: 173,756,340 (GRCm39) |
|
probably benign |
Het |
| Ifnar2 |
T |
A |
16: 91,190,766 (GRCm39) |
L93* |
probably null |
Het |
| Kdr |
A |
G |
5: 76,138,764 (GRCm39) |
V22A |
probably benign |
Het |
| Llgl1 |
C |
T |
11: 60,601,179 (GRCm39) |
Q706* |
probably null |
Het |
| Lrrc9 |
A |
T |
12: 72,497,546 (GRCm39) |
K121N |
probably benign |
Het |
| Lyst |
T |
C |
13: 13,917,909 (GRCm39) |
F3323S |
probably damaging |
Het |
| Mc4r |
A |
G |
18: 66,992,253 (GRCm39) |
Y287H |
probably damaging |
Het |
| Nlrp4e |
A |
C |
7: 23,036,156 (GRCm39) |
|
probably null |
Het |
| Or52z12 |
A |
T |
7: 103,233,651 (GRCm39) |
I141F |
probably damaging |
Het |
| Or8b42 |
A |
G |
9: 38,342,444 (GRCm39) |
I289V |
probably benign |
Het |
| Pear1 |
T |
A |
3: 87,666,872 (GRCm39) |
K38* |
probably null |
Het |
| Pik3c2g |
G |
A |
6: 139,903,502 (GRCm39) |
R585Q |
possibly damaging |
Het |
| Prpf40a |
A |
G |
2: 53,034,875 (GRCm39) |
V771A |
possibly damaging |
Het |
| Rnd3 |
G |
T |
2: 51,027,187 (GRCm39) |
D103E |
probably damaging |
Het |
| Spats2l |
A |
T |
1: 57,918,695 (GRCm39) |
N43I |
probably damaging |
Het |
| Tmem202 |
C |
A |
9: 59,426,504 (GRCm39) |
G221C |
probably benign |
Het |
| Ubiad1 |
T |
C |
4: 148,528,579 (GRCm39) |
D110G |
probably damaging |
Het |
| Ulk4 |
A |
T |
9: 120,903,081 (GRCm39) |
V1132D |
probably benign |
Het |
| Vmn2r118 |
C |
T |
17: 55,917,440 (GRCm39) |
M357I |
probably benign |
Het |
| Zfp663 |
G |
C |
2: 165,195,178 (GRCm39) |
P347R |
probably benign |
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 |
|
|
R6907:Sfpq
|
UTSW |
4 |
126,915,419 (GRCm39) |
small deletion |
probably benign |
|
|
R6908: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'- ATGTCTCGGGATCGGTTCCG -3'
(R):5'- GAGATCTTCTCCTCCGTGCG -3'
Sequencing Primer
(F):5'- ATCGGTTCCGGAGTCGC -3'
(R):5'- TCGAGACTCCGCTGCTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation