Incidental Mutation 'IGL03060:Sugp2'
| ID |
409403 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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: 0.121)
|
| Stock # |
IGL03060
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70686838-70715755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 70695837 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 270
(V270A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093458]
[ENSMUST00000131489]
[ENSMUST00000145078]
[ENSMUST00000155771]
[ENSMUST00000164403]
|
| AlphaFold |
Q8CH09 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000093458
AA Change: V270A
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: V270A
| 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 |
possibly damaging
Transcript: ENSMUST00000131489
AA Change: V270A
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: V270A
| 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 |
noncoding transcript
Transcript: ENSMUST00000135640
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000136758
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000145078
|
| SMART Domains |
Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
46 |
57 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
107 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000155771
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156330
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000164403
AA Change: V270A
PolyPhen 2
Score 0.890 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: V270A
| 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 |
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Afap1l2 |
G |
A |
19: 56,902,682 (GRCm39) |
Q720* |
probably null |
Het |
| Amph |
A |
G |
13: 19,278,984 (GRCm39) |
E153G |
probably damaging |
Het |
| Atad2 |
T |
C |
15: 57,985,842 (GRCm39) |
|
probably benign |
Het |
| Atosa |
A |
G |
9: 74,917,450 (GRCm39) |
D683G |
probably damaging |
Het |
| Cep152 |
C |
T |
2: 125,461,907 (GRCm39) |
|
probably benign |
Het |
| Cntn2 |
C |
T |
1: 132,456,678 (GRCm39) |
V123I |
probably benign |
Het |
| Dhrs2 |
C |
A |
14: 55,474,775 (GRCm39) |
Q137K |
probably benign |
Het |
| Fam124a |
A |
G |
14: 62,843,353 (GRCm39) |
Y287C |
probably benign |
Het |
| Flg2 |
C |
T |
3: 93,110,920 (GRCm39) |
R983W |
unknown |
Het |
| Gm9637 |
G |
A |
14: 19,402,173 (GRCm38) |
|
noncoding transcript |
Het |
| Helz2 |
A |
G |
2: 180,871,015 (GRCm39) |
|
probably null |
Het |
| Iars1 |
G |
A |
13: 49,843,923 (GRCm39) |
|
probably null |
Het |
| Igll1 |
A |
T |
16: 16,680,291 (GRCm39) |
|
probably null |
Het |
| Iqch |
A |
G |
9: 63,432,196 (GRCm39) |
Y361H |
probably damaging |
Het |
| Lrp1b |
A |
T |
2: 40,527,765 (GRCm39) |
H105Q |
probably benign |
Het |
| Mapk6 |
A |
G |
9: 75,305,084 (GRCm39) |
M111T |
probably damaging |
Het |
| Mrtfa |
G |
A |
15: 80,929,523 (GRCm39) |
R27W |
probably damaging |
Het |
| Mt1 |
T |
A |
8: 94,906,522 (GRCm39) |
|
probably benign |
Het |
| Myh7b |
A |
T |
2: 155,474,671 (GRCm39) |
D1768V |
probably damaging |
Het |
| Myo6 |
A |
T |
9: 80,168,159 (GRCm39) |
Q441L |
probably benign |
Het |
| Nt5c3b |
A |
T |
11: 100,327,045 (GRCm39) |
Y84N |
probably damaging |
Het |
| Ntmt2 |
T |
C |
1: 163,544,692 (GRCm39) |
D97G |
probably damaging |
Het |
| Or1e29 |
A |
G |
11: 73,667,289 (GRCm39) |
F288S |
probably damaging |
Het |
| Paxx |
A |
G |
2: 25,350,196 (GRCm39) |
L137P |
probably damaging |
Het |
| Ptprz1 |
T |
C |
6: 22,972,834 (GRCm39) |
V248A |
probably damaging |
Het |
| Rif1 |
T |
A |
2: 52,002,149 (GRCm39) |
C1868S |
probably damaging |
Het |
| Sec23a |
A |
T |
12: 59,032,891 (GRCm39) |
C403S |
probably benign |
Het |
| Skint4 |
G |
A |
4: 111,975,432 (GRCm39) |
V131I |
probably benign |
Het |
| Tmed9 |
A |
G |
13: 55,743,321 (GRCm39) |
D151G |
possibly damaging |
Het |
| Tubgcp4 |
A |
G |
2: 121,007,071 (GRCm39) |
|
probably benign |
Het |
| Uaca |
A |
G |
9: 60,777,148 (GRCm39) |
R512G |
probably damaging |
Het |
| Unc80 |
A |
G |
1: 66,676,169 (GRCm39) |
Y1999C |
possibly damaging |
Het |
| Vwf |
T |
A |
6: 125,640,523 (GRCm39) |
C2320S |
probably damaging |
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 |
|
PIT4687001:Sugp2
|
UTSW |
8 |
70,710,162 (GRCm39) |
missense |
probably damaging |
0.96 |
|
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation