Incidental Mutation 'IGL01025:Sugp2'
| ID |
60087 |
| 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 # |
IGL01025
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
70686838-70715755 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 70695185 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Asparagine
at position 53
(D53N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000128029
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000093458]
[ENSMUST00000131489]
[ENSMUST00000145078]
[ENSMUST00000155771]
[ENSMUST00000164403]
|
| AlphaFold |
Q8CH09 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000093458
AA Change: D53N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000091167
Gene: ENSMUSG00000036054
AA Change: D53N
| 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: ENSMUST00000131489
AA Change: D53N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000114833
Gene: ENSMUSG00000036054
AA Change: D53N
| 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: ENSMUST00000136758
|
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000145078
AA Change: D120N
PolyPhen 2
Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
|
| SMART Domains |
Protein: ENSMUSP00000114403
Gene: ENSMUSG00000036054
AA Change: D120N
| 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 damaging
Transcript: ENSMUST00000155771
AA Change: D53N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000156330
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000164403
AA Change: D53N
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000128029
Gene: ENSMUSG00000036054
AA Change: D53N
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acap3 |
G |
A |
4: 155,986,676 (GRCm39) |
V335M |
probably damaging |
Het |
| Apex1 |
C |
T |
14: 51,163,711 (GRCm39) |
L113F |
possibly damaging |
Het |
| Bltp1 |
T |
A |
3: 37,100,429 (GRCm39) |
H1218Q |
possibly damaging |
Het |
| Cd33 |
C |
T |
7: 43,182,329 (GRCm39) |
V39M |
probably damaging |
Het |
| Chek2 |
A |
G |
5: 110,996,536 (GRCm39) |
D166G |
probably damaging |
Het |
| Col2a1 |
T |
C |
15: 97,874,054 (GRCm39) |
K1376R |
unknown |
Het |
| Cpd |
C |
T |
11: 76,686,439 (GRCm39) |
R963H |
probably damaging |
Het |
| Cracd |
A |
G |
5: 76,805,921 (GRCm39) |
|
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,628,376 (GRCm39) |
Y189* |
probably null |
Het |
| Dock6 |
T |
C |
9: 21,723,103 (GRCm39) |
E1606G |
possibly damaging |
Het |
| Dusp4 |
A |
T |
8: 35,285,666 (GRCm39) |
E309V |
probably benign |
Het |
| Dync2h1 |
A |
G |
9: 7,162,789 (GRCm39) |
I600T |
probably damaging |
Het |
| Fer1l4 |
A |
G |
2: 155,894,105 (GRCm39) |
V66A |
probably benign |
Het |
| Fktn |
T |
C |
4: 53,737,568 (GRCm39) |
L269P |
possibly damaging |
Het |
| Ftsj3 |
A |
G |
11: 106,141,185 (GRCm39) |
I645T |
probably damaging |
Het |
| Fxr2 |
A |
G |
11: 69,534,713 (GRCm39) |
H198R |
probably damaging |
Het |
| Fzd7 |
T |
C |
1: 59,523,539 (GRCm39) |
V474A |
probably damaging |
Het |
| Gm10295 |
T |
A |
7: 71,000,406 (GRCm39) |
D58V |
unknown |
Het |
| Hdlbp |
T |
C |
1: 93,357,891 (GRCm39) |
I337V |
probably benign |
Het |
| Hydin |
T |
C |
8: 111,053,033 (GRCm39) |
V235A |
probably benign |
Het |
| Igfbp4 |
C |
T |
11: 98,939,069 (GRCm39) |
H30Y |
probably damaging |
Het |
| Kcna4 |
T |
C |
2: 107,126,736 (GRCm39) |
V490A |
probably damaging |
Het |
| Kcnj13 |
T |
G |
1: 87,314,700 (GRCm39) |
D174A |
probably benign |
Het |
| Krt7 |
T |
A |
15: 101,321,302 (GRCm39) |
L373Q |
probably benign |
Het |
| Lama3 |
G |
A |
18: 12,614,094 (GRCm39) |
V1288I |
probably benign |
Het |
| Mroh9 |
T |
C |
1: 162,875,435 (GRCm39) |
D488G |
possibly damaging |
Het |
| Myh7 |
T |
C |
14: 55,216,994 (GRCm39) |
E1121G |
probably damaging |
Het |
| Myom1 |
A |
G |
17: 71,384,912 (GRCm39) |
N768D |
probably damaging |
Het |
| Naa16 |
T |
C |
14: 79,622,196 (GRCm39) |
T48A |
probably damaging |
Het |
| Naglu |
C |
T |
11: 100,964,773 (GRCm39) |
P287S |
probably benign |
Het |
| Nipbl |
A |
G |
15: 8,379,939 (GRCm39) |
V951A |
possibly damaging |
Het |
| Nlrp3 |
T |
A |
11: 59,442,713 (GRCm39) |
M755K |
probably benign |
Het |
| Nlrp4e |
T |
C |
7: 23,052,586 (GRCm39) |
|
probably benign |
Het |
| Nt5dc1 |
C |
T |
10: 34,283,553 (GRCm39) |
A79T |
possibly damaging |
Het |
| Or10aa3 |
T |
C |
1: 173,878,251 (GRCm39) |
F104S |
probably damaging |
Het |
| Or6c205 |
A |
T |
10: 129,086,609 (GRCm39) |
I69F |
possibly damaging |
Het |
| Or8b47 |
A |
G |
9: 38,435,029 (GRCm39) |
|
probably benign |
Het |
| Otof |
A |
G |
5: 30,541,597 (GRCm39) |
L774P |
possibly damaging |
Het |
| Phf20l1 |
C |
T |
15: 66,484,981 (GRCm39) |
R322C |
probably damaging |
Het |
| Pkhd1 |
C |
T |
1: 20,279,400 (GRCm39) |
G2973R |
probably benign |
Het |
| Plekhg5 |
G |
T |
4: 152,192,983 (GRCm39) |
D613Y |
probably damaging |
Het |
| Ppm1h |
T |
A |
10: 122,714,534 (GRCm39) |
|
probably null |
Het |
| Pramel31 |
T |
A |
4: 144,089,947 (GRCm39) |
L329Q |
probably damaging |
Het |
| Prpf39 |
T |
C |
12: 65,089,255 (GRCm39) |
|
probably benign |
Het |
| Rtn3 |
A |
G |
19: 7,460,406 (GRCm39) |
S15P |
unknown |
Het |
| Slc22a28 |
G |
T |
19: 8,094,272 (GRCm39) |
|
probably benign |
Het |
| Slc4a5 |
T |
A |
6: 83,239,515 (GRCm39) |
L143Q |
probably damaging |
Het |
| Sox17 |
T |
C |
1: 4,562,426 (GRCm39) |
D130G |
possibly damaging |
Het |
| Stag1 |
A |
G |
9: 100,833,710 (GRCm39) |
T1108A |
possibly damaging |
Het |
| Trim33 |
G |
A |
3: 103,261,234 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,629,568 (GRCm39) |
I14291T |
probably damaging |
Het |
| Ttn |
A |
G |
2: 76,619,869 (GRCm39) |
V15933A |
probably damaging |
Het |
| Tulp3 |
A |
C |
6: 128,302,847 (GRCm39) |
I324S |
probably damaging |
Het |
| Zfhx2 |
T |
C |
14: 55,301,717 (GRCm39) |
E2089G |
probably damaging |
Het |
| Zhx1 |
T |
C |
15: 57,918,075 (GRCm39) |
D57G |
probably benign |
Het |
|
| Other mutations in Sugp2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
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 |
2013-07-11 |
Incidental Mutation