Incidental Mutation 'IGL02962:Sugp1'
ID |
365411 |
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 # |
IGL02962
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
70495463-70524997 bp(+) (GRCm39) |
Type of Mutation |
splice site |
DNA Base Change (assembly) |
T to A
at 70512512 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
|
AlphaFold |
Q8CH02 |
PDB Structure |
Solution structure of SURP domain in BAB30904 [SOLUTION NMR]
Solution structure of SURP domain in splicing factor 4 [SOLUTION NMR]
|
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 |
noncoding transcript
Transcript: ENSMUST00000211808
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213035
|
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: 39 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700017N19Rik |
T |
A |
10: 100,446,455 (GRCm39) |
|
probably null |
Het |
9530068E07Rik |
T |
C |
11: 52,294,362 (GRCm39) |
V209A |
possibly damaging |
Het |
Abca3 |
T |
A |
17: 24,619,383 (GRCm39) |
V907E |
probably damaging |
Het |
Acvrl1 |
T |
C |
15: 101,033,382 (GRCm39) |
Y90H |
probably benign |
Het |
Aff3 |
T |
C |
1: 38,574,737 (GRCm39) |
D81G |
probably damaging |
Het |
Amn |
G |
T |
12: 111,240,951 (GRCm39) |
V152L |
probably damaging |
Het |
Arhgap44 |
A |
G |
11: 64,957,987 (GRCm39) |
|
probably benign |
Het |
Atad5 |
T |
A |
11: 79,999,405 (GRCm39) |
V895D |
possibly damaging |
Het |
Card9 |
T |
G |
2: 26,248,029 (GRCm39) |
|
probably null |
Het |
Ccer1 |
T |
C |
10: 97,529,702 (GRCm39) |
S122P |
unknown |
Het |
Ccr2 |
A |
G |
9: 123,905,712 (GRCm39) |
|
probably benign |
Het |
Dsg1a |
T |
A |
18: 20,473,381 (GRCm39) |
I818N |
possibly damaging |
Het |
Ear10 |
G |
T |
14: 44,160,774 (GRCm39) |
L18I |
probably damaging |
Het |
Mertk |
A |
G |
2: 128,619,374 (GRCm39) |
Y544C |
probably damaging |
Het |
Miga1 |
A |
T |
3: 151,990,978 (GRCm39) |
|
probably benign |
Het |
Myo18a |
T |
C |
11: 77,669,061 (GRCm39) |
V307A |
probably damaging |
Het |
Or5p64 |
A |
T |
7: 107,854,910 (GRCm39) |
I145N |
possibly damaging |
Het |
Or7a38 |
T |
A |
10: 78,752,773 (GRCm39) |
L33H |
probably damaging |
Het |
Pou2f3 |
T |
C |
9: 43,036,384 (GRCm39) |
|
probably benign |
Het |
Pramel23 |
T |
A |
4: 143,423,910 (GRCm39) |
E293V |
probably benign |
Het |
Prickle2 |
A |
C |
6: 92,353,403 (GRCm39) |
S744A |
probably benign |
Het |
Prkcb |
T |
A |
7: 122,024,270 (GRCm39) |
|
probably null |
Het |
Prkd2 |
A |
G |
7: 16,603,757 (GRCm39) |
T813A |
probably benign |
Het |
Prkra |
G |
A |
2: 76,463,891 (GRCm39) |
T257M |
probably damaging |
Het |
Rbm18 |
C |
T |
2: 36,012,886 (GRCm39) |
R102Q |
probably damaging |
Het |
Rbsn |
A |
G |
6: 92,167,307 (GRCm39) |
S446P |
probably benign |
Het |
Rpgrip1l |
A |
T |
8: 91,996,990 (GRCm39) |
V28D |
possibly damaging |
Het |
Sdccag8 |
A |
T |
1: 176,775,928 (GRCm39) |
K613I |
probably damaging |
Het |
Serbp1 |
G |
A |
6: 67,244,103 (GRCm39) |
G8D |
probably damaging |
Het |
Slc6a2 |
T |
A |
8: 93,699,390 (GRCm39) |
Y139* |
probably null |
Het |
Slc7a2 |
T |
A |
8: 41,358,621 (GRCm39) |
F321L |
probably damaging |
Het |
Slco1b2 |
G |
A |
6: 141,594,279 (GRCm39) |
S48N |
probably damaging |
Het |
Ssbp2 |
G |
T |
13: 91,790,490 (GRCm39) |
V118L |
possibly damaging |
Het |
Taar5 |
C |
A |
10: 23,846,883 (GRCm39) |
R94S |
possibly damaging |
Het |
Tgs1 |
G |
T |
4: 3,586,181 (GRCm39) |
A353S |
probably benign |
Het |
Trav1 |
A |
G |
14: 52,666,099 (GRCm39) |
E32G |
probably damaging |
Het |
Trp53bp2 |
T |
C |
1: 182,259,160 (GRCm39) |
V71A |
probably benign |
Het |
Vmn2r50 |
T |
C |
7: 9,784,252 (GRCm39) |
Y74C |
probably damaging |
Het |
Wars1 |
A |
T |
12: 108,841,706 (GRCm39) |
M147K |
probably damaging |
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 |
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 |
2015-12-18 |