Incidental Mutation 'IGL02345:Sugp1'
ID |
289259 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
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 # |
IGL02345
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70495463-70524997 bp(+) (GRCm39) |
Type of Mutation |
unclassified |
DNA Base Change (assembly) |
A to G
at 70495734 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000148532
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
[ENSMUST00000050561]
[ENSMUST00000168013]
[ENSMUST00000212308]
[ENSMUST00000212845]
[ENSMUST00000212451]
|
AlphaFold |
Q8CH02 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000011450
|
SMART Domains |
Protein: ENSMUSP00000011450 Gene: ENSMUSG00000011306
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 |
probably benign
Transcript: ENSMUST00000050561
|
SMART Domains |
Protein: ENSMUSP00000054763 Gene: ENSMUSG00000031858
Domain | Start | End | E-Value | Type |
Pfam:Cohesin_load
|
29 |
575 |
5e-131 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000168013
|
SMART Domains |
Protein: ENSMUSP00000131966 Gene: ENSMUSG00000031858
Domain | Start | End | E-Value | Type |
Pfam:Cohesin_load
|
29 |
576 |
8.7e-130 |
PFAM |
Pfam:TPR_8
|
71 |
105 |
3.3e-4 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211808
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212055
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212308
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213035
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212845
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212401
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000212451
|
Coding Region Coverage |
|
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: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcc1 |
G |
T |
16: 14,214,215 (GRCm39) |
D177Y |
possibly damaging |
Het |
Casc3 |
T |
C |
11: 98,718,390 (GRCm39) |
|
probably benign |
Het |
Catspere2 |
G |
A |
1: 177,842,754 (GRCm39) |
V60I |
possibly damaging |
Het |
Cnga1 |
C |
T |
5: 72,762,615 (GRCm39) |
V300I |
probably benign |
Het |
Dcun1d4 |
A |
G |
5: 73,668,495 (GRCm39) |
D41G |
probably damaging |
Het |
Dnm1l |
T |
C |
16: 16,147,758 (GRCm39) |
S181G |
possibly damaging |
Het |
Dyrk1a |
T |
G |
16: 94,472,221 (GRCm39) |
S242A |
possibly damaging |
Het |
Fcgbp |
T |
A |
7: 27,771,068 (GRCm39) |
|
probably benign |
Het |
Fibcd1 |
T |
C |
2: 31,706,604 (GRCm39) |
Y409C |
probably damaging |
Het |
Fig4 |
A |
T |
10: 41,143,770 (GRCm39) |
W230R |
probably null |
Het |
Flt1 |
T |
C |
5: 147,519,436 (GRCm39) |
S960G |
probably benign |
Het |
Fyb1 |
A |
G |
15: 6,649,143 (GRCm39) |
S390G |
possibly damaging |
Het |
Gbx2 |
T |
C |
1: 89,856,698 (GRCm39) |
T231A |
probably benign |
Het |
Gm5852 |
T |
A |
3: 93,635,055 (GRCm39) |
|
noncoding transcript |
Het |
Lmo7 |
T |
C |
14: 102,124,909 (GRCm39) |
V456A |
probably damaging |
Het |
Mark3 |
A |
G |
12: 111,593,541 (GRCm39) |
N191S |
probably damaging |
Het |
Or7h8 |
C |
A |
9: 20,124,314 (GRCm39) |
S223Y |
possibly damaging |
Het |
Pik3c2a |
C |
T |
7: 116,005,126 (GRCm39) |
E381K |
probably damaging |
Het |
Pik3r5 |
A |
G |
11: 68,383,552 (GRCm39) |
D457G |
probably benign |
Het |
Plcg2 |
T |
C |
8: 118,311,919 (GRCm39) |
S404P |
probably damaging |
Het |
Prr16 |
T |
C |
18: 51,436,301 (GRCm39) |
F260S |
probably damaging |
Het |
Psd4 |
T |
C |
2: 24,291,835 (GRCm39) |
|
probably null |
Het |
Ptgs1 |
A |
G |
2: 36,132,983 (GRCm39) |
D327G |
probably null |
Het |
Rgsl1 |
C |
T |
1: 153,679,755 (GRCm39) |
|
probably null |
Het |
Spart |
T |
A |
3: 55,025,147 (GRCm39) |
|
probably null |
Het |
Tubgcp3 |
A |
T |
8: 12,675,056 (GRCm39) |
I713N |
probably damaging |
Het |
Usp19 |
A |
G |
9: 108,371,057 (GRCm39) |
T240A |
probably benign |
Het |
Vash2 |
A |
G |
1: 190,710,412 (GRCm39) |
V81A |
probably benign |
Het |
Vmn2r41 |
T |
G |
7: 8,141,767 (GRCm39) |
N566H |
probably damaging |
Het |
Wdr31 |
A |
G |
4: 62,377,083 (GRCm39) |
I42T |
possibly damaging |
Het |
Zfp292 |
C |
T |
4: 34,809,244 (GRCm39) |
V1272I |
possibly damaging |
Het |
Zfp638 |
C |
T |
6: 83,961,857 (GRCm39) |
R1899C |
probably damaging |
Het |
|
Other mutations in Sugp1 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
R4500:Sugp1
|
UTSW |
8 |
70,509,038 (GRCm39) |
missense |
probably benign |
|
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 |
|
Posted On |
2015-04-16 |