Incidental Mutation 'R6039:Sf3a2'
ID |
479363 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sf3a2
|
Ensembl Gene |
ENSMUSG00000020211 |
Gene Name |
splicing factor 3a, subunit 2 |
Synonyms |
PRP11, 66kDa, Sap62, SFA66 |
MMRRC Submission |
043259-MU
|
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
R6039 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
10 |
Chromosomal Location |
80634569-80640756 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 80637297 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Tyrosine to Cysteine
at position 45
(Y45C)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000114164
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000036016]
[ENSMUST00000036805]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000151928]
[ENSMUST00000219378]
[ENSMUST00000219959]
[ENSMUST00000218209]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000036016
|
SMART Domains |
Protein: ENSMUSP00000043153 Gene: ENSMUSG00000035262
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
low complexity region
|
38 |
52 |
N/A |
INTRINSIC |
Pfam:AMH_N
|
75 |
439 |
3e-133 |
PFAM |
TGFB
|
456 |
554 |
8.57e-36 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000036805
|
SMART Domains |
Protein: ENSMUSP00000042334 Gene: ENSMUSG00000035278
Domain | Start | End | E-Value | Type |
PH
|
16 |
110 |
1.48e-7 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139461
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000147440
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000116478 Gene: ENSMUSG00000020211 AA Change: Y45C
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
Blast:CactinC_cactus
|
41 |
67 |
1e-9 |
BLAST |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000148665
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000117160 Gene: ENSMUSG00000020211 AA Change: Y45C
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
CactinC_cactus
|
91 |
219 |
8.29e-35 |
SMART |
low complexity region
|
300 |
318 |
N/A |
INTRINSIC |
low complexity region
|
320 |
420 |
N/A |
INTRINSIC |
low complexity region
|
423 |
452 |
N/A |
INTRINSIC |
low complexity region
|
459 |
484 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000151928
AA Change: Y45C
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000114164 Gene: ENSMUSG00000020211 AA Change: Y45C
Domain | Start | End | E-Value | Type |
low complexity region
|
18 |
36 |
N/A |
INTRINSIC |
ZnF_U1
|
51 |
85 |
5.02e-9 |
SMART |
ZnF_C2H2
|
54 |
78 |
1.23e1 |
SMART |
CactinC_cactus
|
91 |
194 |
1.26e-4 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000217735
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000219767
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220002
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000220093
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219378
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000219959
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000218036
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000218209
|
Coding Region Coverage |
- 1x: 99.8%
- 3x: 98.9%
- 10x: 92.2%
- 20x: 71.8%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 55 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamts9 |
C |
T |
6: 92,885,527 (GRCm39) |
R416Q |
possibly damaging |
Het |
Adgre1 |
C |
A |
17: 57,713,859 (GRCm39) |
D181E |
probably benign |
Het |
Arhgap24 |
T |
C |
5: 103,028,652 (GRCm39) |
S183P |
probably damaging |
Het |
Asb1 |
T |
C |
1: 91,474,748 (GRCm39) |
L90P |
probably damaging |
Het |
Bmp3 |
T |
C |
5: 99,020,209 (GRCm39) |
F211L |
probably benign |
Het |
C8a |
A |
G |
4: 104,703,139 (GRCm39) |
I306T |
probably benign |
Het |
Cdkn3 |
G |
A |
14: 47,007,373 (GRCm39) |
G177R |
probably damaging |
Het |
Chat |
A |
G |
14: 32,170,984 (GRCm39) |
S172P |
probably damaging |
Het |
Chd5 |
CAAGAAGAAGAAGAAGAA |
CAAGAAGAAGAAGAA |
4: 152,438,078 (GRCm39) |
|
probably benign |
Het |
Cyp4a12a |
T |
C |
4: 115,184,420 (GRCm39) |
I265T |
probably damaging |
Het |
Dlst |
T |
A |
12: 85,165,664 (GRCm39) |
|
probably null |
Het |
Dnmt1 |
A |
T |
9: 20,837,716 (GRCm39) |
|
probably benign |
Het |
Fbn1 |
C |
T |
2: 125,205,800 (GRCm39) |
E1066K |
probably damaging |
Het |
Fetub |
C |
T |
16: 22,751,081 (GRCm39) |
R143C |
probably damaging |
Het |
Fstl1 |
T |
A |
16: 37,641,538 (GRCm39) |
S105T |
probably benign |
Het |
Gm19410 |
C |
G |
8: 36,276,518 (GRCm39) |
A1725G |
probably benign |
Het |
Hspb7 |
A |
G |
4: 141,151,215 (GRCm39) |
N119S |
probably damaging |
Het |
Il20 |
T |
A |
1: 130,838,478 (GRCm39) |
D73V |
possibly damaging |
Het |
Insrr |
T |
C |
3: 87,716,608 (GRCm39) |
I612T |
possibly damaging |
Het |
Kcnma1 |
T |
C |
14: 23,359,105 (GRCm39) |
Y1107C |
probably benign |
Het |
Klhl32 |
A |
G |
4: 24,792,615 (GRCm39) |
|
probably null |
Het |
Krt77 |
C |
A |
15: 101,769,351 (GRCm39) |
R470L |
possibly damaging |
Het |
Muc1 |
T |
C |
3: 89,139,336 (GRCm39) |
Y579H |
probably damaging |
Het |
Myof |
T |
C |
19: 37,966,132 (GRCm39) |
D396G |
probably damaging |
Het |
Myom1 |
T |
G |
17: 71,417,746 (GRCm39) |
D1316E |
probably damaging |
Het |
Nbea |
T |
C |
3: 55,912,538 (GRCm39) |
E1083G |
probably benign |
Het |
Nek9 |
G |
A |
12: 85,359,859 (GRCm39) |
A531V |
probably benign |
Het |
Nlrp12 |
A |
T |
7: 3,290,002 (GRCm39) |
I170N |
possibly damaging |
Het |
Nup98 |
A |
G |
7: 101,784,002 (GRCm39) |
I1093T |
probably benign |
Het |
Ovch2 |
G |
A |
7: 107,388,318 (GRCm39) |
L421F |
probably damaging |
Het |
Paqr4 |
T |
C |
17: 23,958,968 (GRCm39) |
D11G |
probably damaging |
Het |
Parp8 |
A |
G |
13: 117,014,134 (GRCm39) |
S561P |
probably damaging |
Het |
Pcgf5 |
T |
A |
19: 36,420,306 (GRCm39) |
F179L |
probably damaging |
Het |
Pde4d |
A |
T |
13: 110,084,876 (GRCm39) |
Q422L |
probably damaging |
Het |
Pigs |
T |
A |
11: 78,232,651 (GRCm39) |
V495E |
probably damaging |
Het |
Polh |
C |
T |
17: 46,498,959 (GRCm39) |
R252H |
probably benign |
Het |
Psg28 |
T |
C |
7: 18,160,107 (GRCm39) |
D363G |
possibly damaging |
Het |
Ptgir |
A |
T |
7: 16,640,815 (GRCm39) |
I36F |
possibly damaging |
Het |
Ptprr |
G |
A |
10: 116,072,668 (GRCm39) |
|
probably null |
Het |
Rax |
C |
T |
18: 66,068,418 (GRCm39) |
G229D |
unknown |
Het |
Secisbp2l |
T |
A |
2: 125,615,136 (GRCm39) |
H163L |
probably benign |
Het |
Sgo2a |
C |
T |
1: 58,055,775 (GRCm39) |
T653I |
possibly damaging |
Het |
Slc38a9 |
A |
T |
13: 112,806,231 (GRCm39) |
I26F |
probably damaging |
Het |
Slc5a8 |
A |
G |
10: 88,722,436 (GRCm39) |
I90V |
probably benign |
Het |
Slx4 |
G |
A |
16: 3,803,911 (GRCm39) |
H968Y |
possibly damaging |
Het |
Stam2 |
T |
C |
2: 52,599,611 (GRCm39) |
T233A |
probably benign |
Het |
Tln1 |
G |
C |
4: 43,555,052 (GRCm39) |
F259L |
probably damaging |
Het |
Trav4-2 |
G |
A |
14: 53,655,866 (GRCm39) |
V8M |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,878,729 (GRCm39) |
H45Q |
probably damaging |
Het |
Ttn |
C |
T |
2: 76,714,762 (GRCm39) |
|
probably benign |
Het |
Ush2a |
T |
A |
1: 188,051,217 (GRCm39) |
F234L |
possibly damaging |
Het |
Vmn2r74 |
T |
A |
7: 85,607,526 (GRCm39) |
|
probably null |
Het |
Wdr6 |
CTG |
C |
9: 108,450,994 (GRCm39) |
|
probably null |
Het |
Zfp644 |
A |
G |
5: 106,783,291 (GRCm39) |
S997P |
possibly damaging |
Het |
Zfp853 |
G |
A |
5: 143,274,529 (GRCm39) |
Q364* |
probably null |
Het |
|
Other mutations in Sf3a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01717:Sf3a2
|
APN |
10 |
80,640,526 (GRCm39) |
nonsense |
probably null |
|
IGL02997:Sf3a2
|
APN |
10 |
80,639,454 (GRCm39) |
missense |
probably damaging |
1.00 |
R0470:Sf3a2
|
UTSW |
10 |
80,640,388 (GRCm39) |
unclassified |
probably benign |
|
R1436:Sf3a2
|
UTSW |
10 |
80,640,040 (GRCm39) |
unclassified |
probably benign |
|
R1437:Sf3a2
|
UTSW |
10 |
80,640,040 (GRCm39) |
unclassified |
probably benign |
|
R2233:Sf3a2
|
UTSW |
10 |
80,638,663 (GRCm39) |
missense |
probably benign |
0.05 |
R2234:Sf3a2
|
UTSW |
10 |
80,638,663 (GRCm39) |
missense |
probably benign |
0.05 |
R3871:Sf3a2
|
UTSW |
10 |
80,640,527 (GRCm39) |
unclassified |
probably benign |
|
R4116:Sf3a2
|
UTSW |
10 |
80,637,175 (GRCm39) |
missense |
probably damaging |
0.98 |
R4659:Sf3a2
|
UTSW |
10 |
80,639,418 (GRCm39) |
missense |
probably damaging |
1.00 |
R4946:Sf3a2
|
UTSW |
10 |
80,639,947 (GRCm39) |
unclassified |
probably benign |
|
R5081:Sf3a2
|
UTSW |
10 |
80,640,275 (GRCm39) |
unclassified |
probably benign |
|
R5618:Sf3a2
|
UTSW |
10 |
80,640,410 (GRCm39) |
unclassified |
probably benign |
|
R6039:Sf3a2
|
UTSW |
10 |
80,637,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R7925:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R7930:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R8118:Sf3a2
|
UTSW |
10 |
80,639,474 (GRCm39) |
missense |
probably damaging |
1.00 |
R8170:Sf3a2
|
UTSW |
10 |
80,639,131 (GRCm39) |
splice site |
probably null |
|
R8757:Sf3a2
|
UTSW |
10 |
80,640,138 (GRCm39) |
missense |
unknown |
|
R8785:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R8874:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R9111:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R9292:Sf3a2
|
UTSW |
10 |
80,640,560 (GRCm39) |
missense |
unknown |
|
R9575:Sf3a2
|
UTSW |
10 |
80,640,271 (GRCm39) |
unclassified |
probably benign |
|
R9663:Sf3a2
|
UTSW |
10 |
80,637,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
|
Posted On |
2017-06-26 |