Incidental Mutation 'R8398:Sugp1'
ID |
647717 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sugp1
|
Ensembl Gene |
ENSMUSG00000011306 |
Gene Name |
SURP and G patch domain containing 1 |
Synonyms |
Sf4 |
MMRRC Submission |
067761-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.968)
|
Stock # |
R8398 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
70495463-70524997 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 70523783 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 550
(Y550C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000011450
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000011450]
[ENSMUST00000049197]
[ENSMUST00000110160]
|
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 damaging
Transcript: ENSMUST00000011450
AA Change: Y550C
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000011450 Gene: ENSMUSG00000011306 AA Change: Y550C
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.8%
- 20x: 99.3%
|
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: 47 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adgrv1 |
T |
C |
13: 81,330,797 (GRCm39) |
D6086G |
probably damaging |
Het |
Amh |
T |
C |
10: 80,641,394 (GRCm39) |
S105P |
probably benign |
Het |
Arap2 |
A |
T |
5: 62,906,252 (GRCm39) |
Y256N |
probably damaging |
Het |
Asap3 |
G |
A |
4: 135,961,704 (GRCm39) |
M271I |
probably benign |
Het |
Bbof1 |
T |
C |
12: 84,475,188 (GRCm39) |
L459P |
probably damaging |
Het |
Ccl21a |
T |
C |
4: 42,773,412 (GRCm39) |
T109A |
probably benign |
Het |
Cnot6 |
C |
T |
11: 49,593,445 (GRCm39) |
R12Q |
probably damaging |
Het |
D5Ertd579e |
G |
A |
5: 36,771,621 (GRCm39) |
Q925* |
probably null |
Het |
Dbh |
G |
A |
2: 27,064,910 (GRCm39) |
V374M |
probably damaging |
Het |
Dvl2 |
T |
A |
11: 69,899,128 (GRCm39) |
L462Q |
probably damaging |
Het |
Fchsd1 |
G |
A |
18: 38,099,577 (GRCm39) |
R206C |
probably damaging |
Het |
Gjd4 |
C |
T |
18: 9,280,326 (GRCm39) |
V251M |
possibly damaging |
Het |
Glud1 |
A |
G |
14: 34,033,228 (GRCm39) |
D125G |
probably benign |
Het |
Gm10428 |
T |
C |
11: 62,644,173 (GRCm39) |
I83T |
unknown |
Het |
Gm10985 |
A |
C |
3: 53,752,674 (GRCm39) |
Y19S |
probably damaging |
Het |
Gm3045 |
A |
G |
13: 56,577,280 (GRCm39) |
T143A |
possibly damaging |
Het |
Heatr6 |
A |
C |
11: 83,672,164 (GRCm39) |
E1057D |
probably benign |
Het |
Hoxa9 |
T |
C |
6: 52,201,403 (GRCm39) |
T213A |
probably damaging |
Het |
Hsd3b5 |
T |
A |
3: 98,526,720 (GRCm39) |
D242V |
possibly damaging |
Het |
Lama5 |
A |
G |
2: 179,838,827 (GRCm39) |
|
probably null |
Het |
Lrp1b |
C |
T |
2: 40,591,819 (GRCm39) |
C3827Y |
|
Het |
Mast2 |
A |
T |
4: 116,165,946 (GRCm39) |
S1261T |
probably damaging |
Het |
Mex3b |
T |
A |
7: 82,518,842 (GRCm39) |
F386I |
probably benign |
Het |
Mta1 |
T |
A |
12: 113,095,242 (GRCm39) |
M465K |
possibly damaging |
Het |
Mtmr12 |
T |
A |
15: 12,265,695 (GRCm39) |
F470L |
probably damaging |
Het |
Myot |
A |
G |
18: 44,487,883 (GRCm39) |
N400S |
probably benign |
Het |
Ndnf |
T |
C |
6: 65,681,362 (GRCm39) |
V547A |
probably damaging |
Het |
Noc3l |
A |
T |
19: 38,783,554 (GRCm39) |
D607E |
probably benign |
Het |
Or5w14 |
A |
G |
2: 87,542,175 (GRCm39) |
V25A |
probably benign |
Het |
Pcdha11 |
G |
A |
18: 37,146,116 (GRCm39) |
G736R |
possibly damaging |
Het |
Pcgf3 |
A |
G |
5: 108,647,509 (GRCm39) |
N205S |
probably damaging |
Het |
Pkd1l3 |
C |
T |
8: 110,350,520 (GRCm39) |
P455L |
possibly damaging |
Het |
Psg27 |
T |
C |
7: 18,295,837 (GRCm39) |
T203A |
probably benign |
Het |
Ptch1 |
T |
C |
13: 63,672,939 (GRCm39) |
T889A |
probably benign |
Het |
Sars1 |
C |
T |
3: 108,335,489 (GRCm39) |
|
probably null |
Het |
Scrn2 |
G |
T |
11: 96,921,730 (GRCm39) |
V67L |
probably benign |
Het |
Slc1a4 |
T |
C |
11: 20,257,982 (GRCm39) |
D380G |
probably damaging |
Het |
Slc9a1 |
A |
T |
4: 133,146,814 (GRCm39) |
Q516L |
probably benign |
Het |
Smc4 |
T |
C |
3: 68,933,184 (GRCm39) |
Y627H |
probably damaging |
Het |
Spon2 |
G |
T |
5: 33,374,154 (GRCm39) |
H76Q |
probably damaging |
Het |
Sppl2b |
TGTCACAGGT |
TGT |
10: 80,701,903 (GRCm39) |
|
probably null |
Het |
Sppl2b |
CTGTCACA |
C |
10: 80,701,902 (GRCm39) |
|
probably null |
Het |
Sun1 |
A |
G |
5: 139,222,408 (GRCm39) |
D558G |
probably damaging |
Het |
Syne1 |
T |
C |
10: 5,074,923 (GRCm39) |
E1134G |
probably damaging |
Het |
Thbd |
C |
T |
2: 148,248,600 (GRCm39) |
V423I |
probably benign |
Het |
V1rd19 |
C |
A |
7: 23,703,374 (GRCm39) |
S280* |
probably null |
Het |
Zfp947 |
A |
T |
17: 22,365,102 (GRCm39) |
C191S |
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 |
|
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 |
|
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 |
|
Predicted Primers |
PCR Primer
(F):5'- GGAAGCTCAGCCCTTTGAAG -3'
(R):5'- AGGACTTGTCCATCTGTGTG -3'
Sequencing Primer
(F):5'- GCTCAGCCCTTTGAAGACAGC -3'
(R):5'- GTCCATCTGTGTGCTCCCG -3'
|
Posted On |
2020-09-02 |