Incidental Mutation 'PIT4687001:Sugp2'
| ID |
556190 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sugp2
|
| Ensembl Gene |
ENSMUSG00000036054 |
| Gene Name |
SURP and G patch domain containing 2 |
| Synonyms |
Srsf14, Sfrs14 |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.109)
|
| Stock # |
PIT4687001 (G1)
|
| Quality Score |
90.0077 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
70686838-70715755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70710162 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 928
(S928P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000091167
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093458]
[ENSMUST00000131489]
[ENSMUST00000164403]
|
| AlphaFold |
Q8CH09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093458
AA Change: S928P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: S928P
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
|
| SMART Domains |
Protein: ENSMUSP00000118748
Gene: ENSMUSG00000036054
AA Change: S104P
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
65 |
N/A |
INTRINSIC |
|
G_patch
|
171 |
217 |
1.13e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000131489
AA Change: S928P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: S928P
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164403
AA Change: S928P
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: S928P
| Domain | Start | End | E-Value | Type |
|---|
|
SWAP
|
570 |
622 |
3.74e-2 |
SMART |
|
SWAP
|
768 |
822 |
1.12e-14 |
SMART |
|
low complexity region
|
859 |
888 |
N/A |
INTRINSIC |
|
G_patch
|
994 |
1040 |
1.13e-16 |
SMART |
|
| Coding Region Coverage |
- 1x: 93.4%
- 3x: 90.8%
- 10x: 84.7%
- 20x: 71.6%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the arginine/serine-rich family of splicing factors. The encoded protein functions in mRNA processing. Alternatively spliced transcript variants have been described. [provided by RefSeq, Feb 2009]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adh1 |
T |
G |
3: 137,995,596 (GRCm39) |
V333G |
probably damaging |
Het |
| Aggf1 |
A |
G |
13: 95,501,383 (GRCm39) |
L333P |
probably damaging |
Het |
| Ankmy1 |
A |
G |
1: 92,812,803 (GRCm39) |
V502A |
probably benign |
Het |
| Atm |
A |
G |
9: 53,398,112 (GRCm39) |
|
probably null |
Het |
| Ccdc180 |
A |
G |
4: 45,949,526 (GRCm39) |
T1594A |
probably damaging |
Het |
| Cep290 |
T |
A |
10: 100,373,453 (GRCm39) |
D1244E |
probably benign |
Het |
| Ctnna3 |
A |
G |
10: 64,670,385 (GRCm39) |
D638G |
probably damaging |
Het |
| Ctsr |
T |
C |
13: 61,308,346 (GRCm39) |
H266R |
possibly damaging |
Het |
| D630045J12Rik |
C |
T |
6: 38,172,036 (GRCm39) |
E711K |
probably benign |
Het |
| Dnah5 |
T |
C |
15: 28,383,723 (GRCm39) |
S2982P |
probably damaging |
Het |
| Dsg1a |
G |
T |
18: 20,464,755 (GRCm39) |
A417S |
probably benign |
Het |
| Gdpd1 |
T |
C |
11: 86,950,366 (GRCm39) |
D69G |
probably damaging |
Het |
| Gp2 |
C |
T |
7: 119,050,801 (GRCm39) |
R310H |
possibly damaging |
Het |
| Ifna2 |
G |
A |
4: 88,601,542 (GRCm39) |
H159Y |
possibly damaging |
Het |
| Kptn |
T |
C |
7: 15,859,751 (GRCm39) |
V325A |
probably damaging |
Het |
| Marchf7 |
A |
G |
2: 60,062,622 (GRCm39) |
E143G |
probably damaging |
Het |
| Mcm4 |
A |
G |
16: 15,454,577 (GRCm39) |
L47P |
probably benign |
Het |
| Mcm8 |
T |
C |
2: 132,659,097 (GRCm39) |
F27S |
possibly damaging |
Het |
| Nod2 |
T |
A |
8: 89,408,274 (GRCm39) |
V967E |
probably damaging |
Het |
| Nrxn2 |
G |
A |
19: 6,531,338 (GRCm39) |
R659Q |
probably benign |
Het |
| Or10al4 |
T |
G |
17: 38,037,082 (GRCm39) |
C56G |
probably benign |
Het |
| Or4x12-ps1 |
A |
G |
2: 89,916,733 (GRCm39) |
V24A |
probably benign |
Het |
| Parp10 |
C |
T |
15: 76,125,122 (GRCm39) |
R545Q |
probably benign |
Het |
| Ppp2r3d |
T |
C |
9: 101,021,579 (GRCm39) |
E332G |
probably benign |
Het |
| Pramel27 |
C |
T |
4: 143,573,103 (GRCm39) |
|
probably benign |
Het |
| Ptpdc1 |
A |
G |
13: 48,739,766 (GRCm39) |
V555A |
probably benign |
Het |
| Qsox2 |
G |
A |
2: 26,112,300 (GRCm39) |
L81F |
possibly damaging |
Het |
| Sbsn |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
GAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCATGGGGTACAGAATGGAGTCAACCAGGCTCAAAAGGAAGCAGAAAAAGTGGCCCA |
7: 30,452,391 (GRCm39) |
|
probably benign |
Het |
| Spata31 |
A |
G |
13: 65,069,151 (GRCm39) |
D433G |
probably benign |
Het |
| Stpg2 |
T |
C |
3: 138,921,026 (GRCm39) |
I77T |
possibly damaging |
Het |
| Syne1 |
A |
G |
10: 5,308,390 (GRCm39) |
S722P |
possibly damaging |
Het |
| Szt2 |
A |
T |
4: 118,255,398 (GRCm39) |
S229T |
possibly damaging |
Het |
| Tm9sf3 |
A |
G |
19: 41,206,630 (GRCm39) |
L505P |
probably damaging |
Het |
| Ttc39d |
G |
A |
17: 80,524,354 (GRCm39) |
A338T |
probably damaging |
Het |
| Ubash3b |
A |
G |
9: 40,934,814 (GRCm39) |
F489L |
probably damaging |
Het |
| Xpo7 |
A |
T |
14: 70,904,589 (GRCm39) |
Y1015N |
probably benign |
Het |
| Zbtb14 |
C |
A |
17: 69,695,302 (GRCm39) |
Y333* |
probably null |
Het |
| Zp2 |
T |
C |
7: 119,741,102 (GRCm39) |
T141A |
probably benign |
Het |
|
| Other mutations in Sugp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01025:Sugp2
|
APN |
8 |
70,695,185 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01126:Sugp2
|
APN |
8 |
70,704,524 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01154:Sugp2
|
APN |
8 |
70,695,349 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02037:Sugp2
|
APN |
8 |
70,712,324 (GRCm39) |
splice site |
probably benign |
|
|
IGL02401:Sugp2
|
APN |
8 |
70,695,821 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL02738:Sugp2
|
APN |
8 |
70,696,449 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03060:Sugp2
|
APN |
8 |
70,695,837 (GRCm39) |
missense |
possibly damaging |
0.89 |
|
PIT4791001:Sugp2
|
UTSW |
8 |
70,713,195 (GRCm39) |
nonsense |
probably null |
|
|
R0538:Sugp2
|
UTSW |
8 |
70,711,598 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1459:Sugp2
|
UTSW |
8 |
70,696,714 (GRCm39) |
splice site |
probably benign |
|
|
R1687:Sugp2
|
UTSW |
8 |
70,695,284 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1801:Sugp2
|
UTSW |
8 |
70,689,360 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R1914:Sugp2
|
UTSW |
8 |
70,706,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1915:Sugp2
|
UTSW |
8 |
70,706,310 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R2004:Sugp2
|
UTSW |
8 |
70,695,306 (GRCm39) |
splice site |
probably null |
|
|
R2012:Sugp2
|
UTSW |
8 |
70,695,861 (GRCm39) |
missense |
possibly damaging |
0.78 |
|
R4584:Sugp2
|
UTSW |
8 |
70,704,548 (GRCm39) |
missense |
probably benign |
0.13 |
|
R4791:Sugp2
|
UTSW |
8 |
70,695,440 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4970:Sugp2
|
UTSW |
8 |
70,712,462 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R5101:Sugp2
|
UTSW |
8 |
70,713,139 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5240:Sugp2
|
UTSW |
8 |
70,695,925 (GRCm39) |
missense |
probably benign |
0.00 |
|
R5279:Sugp2
|
UTSW |
8 |
70,709,757 (GRCm39) |
intron |
probably benign |
|
|
R5303:Sugp2
|
UTSW |
8 |
70,694,827 (GRCm39) |
intron |
probably benign |
|
|
R5966:Sugp2
|
UTSW |
8 |
70,704,753 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5988:Sugp2
|
UTSW |
8 |
70,695,875 (GRCm39) |
missense |
probably benign |
|
|
R6615:Sugp2
|
UTSW |
8 |
70,695,420 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R7382:Sugp2
|
UTSW |
8 |
70,695,494 (GRCm39) |
missense |
probably benign |
0.02 |
|
R7803:Sugp2
|
UTSW |
8 |
70,704,722 (GRCm39) |
missense |
probably benign |
|
|
R7908:Sugp2
|
UTSW |
8 |
70,704,577 (GRCm39) |
missense |
probably benign |
0.08 |
|
R8013:Sugp2
|
UTSW |
8 |
70,704,292 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8350:Sugp2
|
UTSW |
8 |
70,695,641 (GRCm39) |
nonsense |
probably null |
|
|
R9716:Sugp2
|
UTSW |
8 |
70,712,370 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9787:Sugp2
|
UTSW |
8 |
70,695,428 (GRCm39) |
missense |
probably benign |
0.10 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACTGTGCCCATCCATC -3'
(R):5'- TGAGAGCAGAGAACCCTGTG -3'
Sequencing Primer
(F):5'- TTCACTGGAGGGCACTGAG -3'
(R):5'- AGAGAACCCTGTGCACTGTG -3'
|
| Posted On |
2019-06-07 |
Incidental Mutation