Incidental Mutation 'IGL03383:Sugp1'
| ID |
420791 |
| 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 # |
IGL03383
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70495463-70524997 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
A to T
at 70522217 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105788
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
[ENSMUST00000049197]
[ENSMUST00000110160]
|
| 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: ENSMUST00000049197
|
| SMART Domains |
Protein: ENSMUSP00000046114
Gene: ENSMUSG00000036151
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
190 |
N/A |
INTRINSIC |
|
Pfam:DUF2781
|
216 |
357 |
4e-39 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000110160
|
| SMART Domains |
Protein: ENSMUSP00000105788
Gene: ENSMUSG00000036151
| Domain | Start | End | E-Value | Type |
|---|
|
transmembrane domain
|
29 |
51 |
N/A |
INTRINSIC |
|
transmembrane domain
|
64 |
84 |
N/A |
INTRINSIC |
|
transmembrane domain
|
104 |
126 |
N/A |
INTRINSIC |
|
transmembrane domain
|
139 |
161 |
N/A |
INTRINSIC |
|
transmembrane domain
|
171 |
190 |
N/A |
INTRINSIC |
|
Pfam:DUF2781
|
218 |
357 |
1.3e-20 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000148015
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000211808
|
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Agbl4 |
C |
T |
4: 111,514,620 (GRCm39) |
|
probably benign |
Het |
| Cit |
T |
C |
5: 116,011,904 (GRCm39) |
|
probably benign |
Het |
| Clmp |
A |
G |
9: 40,685,737 (GRCm39) |
N211S |
probably damaging |
Het |
| Cnot2 |
A |
G |
10: 116,330,722 (GRCm39) |
|
probably benign |
Het |
| Cntn6 |
A |
G |
6: 104,753,418 (GRCm39) |
|
probably benign |
Het |
| Dnajb9 |
C |
T |
12: 44,255,096 (GRCm39) |
|
probably benign |
Het |
| Ece2 |
T |
A |
16: 20,451,847 (GRCm39) |
N411K |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,354,127 (GRCm39) |
I77T |
possibly damaging |
Het |
| Fshr |
A |
G |
17: 89,293,121 (GRCm39) |
M519T |
probably damaging |
Het |
| Gm10654 |
G |
A |
8: 71,384,775 (GRCm39) |
|
noncoding transcript |
Het |
| Gm5093 |
A |
G |
17: 46,750,517 (GRCm39) |
I170T |
probably benign |
Het |
| Meis3 |
A |
G |
7: 15,917,744 (GRCm39) |
K299R |
probably damaging |
Het |
| Nxf1 |
T |
C |
19: 8,741,061 (GRCm39) |
F15L |
probably damaging |
Het |
| Nxpe3 |
T |
C |
16: 55,670,076 (GRCm39) |
D343G |
probably benign |
Het |
| Or4a73 |
A |
T |
2: 89,420,656 (GRCm39) |
Y268N |
probably benign |
Het |
| Polr3k |
A |
G |
2: 181,507,820 (GRCm39) |
T65A |
probably damaging |
Het |
| Preb |
A |
T |
5: 31,115,665 (GRCm39) |
W222R |
probably damaging |
Het |
| Psmd11 |
T |
C |
11: 80,360,671 (GRCm39) |
I56T |
probably damaging |
Het |
| Rtkn2 |
A |
G |
10: 67,853,667 (GRCm39) |
T232A |
probably damaging |
Het |
| Scaf11 |
T |
C |
15: 96,318,064 (GRCm39) |
|
probably null |
Het |
| Slc4a10 |
A |
T |
2: 62,097,780 (GRCm39) |
K493M |
probably damaging |
Het |
| Stard10 |
A |
G |
7: 100,991,777 (GRCm39) |
K112E |
probably damaging |
Het |
| Tasor |
A |
G |
14: 27,163,918 (GRCm39) |
I235V |
possibly damaging |
Het |
| Tmem156 |
T |
C |
5: 65,233,040 (GRCm39) |
E139G |
probably damaging |
Het |
| Tubd1 |
C |
T |
11: 86,439,834 (GRCm39) |
|
probably benign |
Het |
| Uap1 |
G |
A |
1: 169,986,460 (GRCm39) |
T174M |
probably damaging |
Het |
| Vmn2r13 |
T |
C |
5: 109,304,398 (GRCm39) |
T678A |
probably damaging |
Het |
| Vmn2r84 |
A |
T |
10: 130,222,556 (GRCm39) |
C555S |
probably damaging |
Het |
| Vps13d |
T |
C |
4: 144,894,889 (GRCm39) |
|
probably null |
Het |
| Vps8 |
T |
C |
16: 21,254,573 (GRCm39) |
|
probably null |
Het |
| Wee1 |
A |
G |
7: 109,738,899 (GRCm39) |
N590S |
probably damaging |
Het |
| Zfp112 |
C |
A |
7: 23,825,103 (GRCm39) |
S357Y |
probably damaging |
Het |
| Zfp423 |
T |
A |
8: 88,586,080 (GRCm39) |
K48* |
probably null |
Het |
| Zscan4d |
A |
G |
7: 10,896,692 (GRCm39) |
V226A |
probably benign |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation