Incidental Mutation 'R4500:Sugp1'
ID |
501802 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sugp1
|
Ensembl Gene |
ENSMUSG00000011306 |
Gene Name |
SURP and G patch domain containing 1 |
Synonyms |
Sf4 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R4500 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70495463-70524997 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 70509038 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Proline
at position 104
(S104P)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
|
AlphaFold |
Q8CH02 |
PDB Structure |
Solution structure of SURP domain in BAB30904 [SOLUTION NMR]
Solution structure of SURP domain in splicing factor 4 [SOLUTION NMR]
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000011450
AA Change: S104P
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000011450 Gene: ENSMUSG00000011306 AA Change: S104P
Domain | Start | End | E-Value | Type |
low complexity region
|
56 |
67 |
N/A |
INTRINSIC |
low complexity region
|
88 |
97 |
N/A |
INTRINSIC |
SWAP
|
185 |
239 |
8e-20 |
SMART |
SWAP
|
260 |
314 |
4.09e-17 |
SMART |
low complexity region
|
344 |
365 |
N/A |
INTRINSIC |
low complexity region
|
439 |
452 |
N/A |
INTRINSIC |
G_patch
|
558 |
605 |
3.25e-17 |
SMART |
low complexity region
|
628 |
643 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211808
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213035
|
Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SF4 is a member of the SURP family of splicing factors.[supplied by OMIM, Sep 2003]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310034C09Rik |
T |
A |
16: 88,556,429 (GRCm39) |
C214* |
probably null |
Het |
Ap3s1 |
T |
C |
18: 46,923,067 (GRCm39) |
V186A |
possibly damaging |
Het |
Dennd4a |
G |
A |
9: 64,817,405 (GRCm39) |
D1680N |
possibly damaging |
Het |
Dpep2 |
T |
C |
8: 106,712,114 (GRCm39) |
E282G |
probably benign |
Het |
Duxf4 |
C |
T |
10: 58,071,528 (GRCm39) |
A229T |
possibly damaging |
Het |
Fam83d |
A |
G |
2: 158,627,187 (GRCm39) |
E292G |
probably benign |
Het |
Hook1 |
T |
C |
4: 95,881,437 (GRCm39) |
|
probably null |
Het |
Iqca1l |
T |
C |
5: 24,753,275 (GRCm39) |
D459G |
possibly damaging |
Het |
Klhl18 |
C |
T |
9: 110,259,034 (GRCm39) |
G445S |
probably damaging |
Het |
Or14a257 |
A |
T |
7: 86,138,127 (GRCm39) |
C211S |
probably benign |
Het |
Or51a43 |
A |
G |
7: 103,717,402 (GRCm39) |
S279P |
probably damaging |
Het |
Pias3 |
C |
T |
3: 96,608,734 (GRCm39) |
R259W |
probably damaging |
Het |
Prr11 |
T |
G |
11: 86,989,533 (GRCm39) |
K279N |
possibly damaging |
Het |
Tmem239 |
A |
G |
2: 130,249,077 (GRCm39) |
Y145C |
possibly damaging |
Het |
Uchl4 |
T |
C |
9: 64,143,163 (GRCm39) |
F215L |
possibly damaging |
Het |
Usp5 |
C |
G |
6: 124,799,593 (GRCm39) |
K318N |
possibly damaging |
Het |
Usp7 |
C |
T |
16: 8,513,759 (GRCm39) |
E785K |
possibly damaging |
Het |
Vmn2r66 |
G |
A |
7: 84,657,162 (GRCm39) |
A81V |
probably damaging |
Het |
|
Other mutations in Sugp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL02345:Sugp1
|
APN |
8 |
70,495,734 (GRCm39) |
unclassified |
probably benign |
|
IGL02532:Sugp1
|
APN |
8 |
70,512,469 (GRCm39) |
missense |
possibly damaging |
0.91 |
IGL02887:Sugp1
|
APN |
8 |
70,522,776 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02962:Sugp1
|
APN |
8 |
70,512,512 (GRCm39) |
splice site |
probably benign |
|
IGL02966:Sugp1
|
APN |
8 |
70,523,758 (GRCm39) |
unclassified |
probably benign |
|
IGL03383:Sugp1
|
APN |
8 |
70,522,217 (GRCm39) |
unclassified |
probably benign |
|
R0348:Sugp1
|
UTSW |
8 |
70,522,658 (GRCm39) |
missense |
probably damaging |
1.00 |
R0376:Sugp1
|
UTSW |
8 |
70,505,288 (GRCm39) |
missense |
probably damaging |
1.00 |
R0511:Sugp1
|
UTSW |
8 |
70,512,013 (GRCm39) |
missense |
probably damaging |
1.00 |
R1930:Sugp1
|
UTSW |
8 |
70,524,190 (GRCm39) |
missense |
probably benign |
0.05 |
R1931:Sugp1
|
UTSW |
8 |
70,524,190 (GRCm39) |
missense |
probably benign |
0.05 |
R1933:Sugp1
|
UTSW |
8 |
70,509,225 (GRCm39) |
missense |
possibly damaging |
0.92 |
R1934:Sugp1
|
UTSW |
8 |
70,509,225 (GRCm39) |
missense |
possibly damaging |
0.92 |
R2391:Sugp1
|
UTSW |
8 |
70,512,061 (GRCm39) |
splice site |
probably null |
|
R2484:Sugp1
|
UTSW |
8 |
70,522,174 (GRCm39) |
missense |
possibly damaging |
0.89 |
R4876:Sugp1
|
UTSW |
8 |
70,523,834 (GRCm39) |
missense |
probably damaging |
0.99 |
R5120:Sugp1
|
UTSW |
8 |
70,501,317 (GRCm39) |
missense |
probably benign |
0.02 |
R5724:Sugp1
|
UTSW |
8 |
70,522,799 (GRCm39) |
missense |
probably damaging |
0.98 |
R6736:Sugp1
|
UTSW |
8 |
70,511,953 (GRCm39) |
missense |
probably benign |
0.44 |
R6967:Sugp1
|
UTSW |
8 |
70,513,202 (GRCm39) |
missense |
possibly damaging |
0.79 |
R7107:Sugp1
|
UTSW |
8 |
70,522,800 (GRCm39) |
missense |
probably benign |
0.00 |
R7388:Sugp1
|
UTSW |
8 |
70,505,269 (GRCm39) |
missense |
probably damaging |
0.98 |
R7949:Sugp1
|
UTSW |
8 |
70,509,153 (GRCm39) |
missense |
possibly damaging |
0.48 |
R8354:Sugp1
|
UTSW |
8 |
70,524,247 (GRCm39) |
nonsense |
probably null |
|
R8398:Sugp1
|
UTSW |
8 |
70,523,783 (GRCm39) |
missense |
probably damaging |
1.00 |
R8454:Sugp1
|
UTSW |
8 |
70,524,247 (GRCm39) |
nonsense |
probably null |
|
R9269:Sugp1
|
UTSW |
8 |
70,509,220 (GRCm39) |
missense |
probably benign |
0.01 |
R9654:Sugp1
|
UTSW |
8 |
70,522,656 (GRCm39) |
missense |
probably damaging |
1.00 |
R9738:Sugp1
|
UTSW |
8 |
70,505,256 (GRCm39) |
missense |
probably benign |
0.00 |
R9799:Sugp1
|
UTSW |
8 |
70,523,068 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- CTGCCAAGCCCTGACTTATC -3'
(R):5'- ATGTGAGCTACTGACCCAGC -3'
Sequencing Primer
(F):5'- CTTCTTTCAGCTAGGAACTCGAAG -3'
(R):5'- TCCTCATCATCATCAGGGGAC -3'
|
Posted On |
2017-12-01 |