Incidental Mutation 'IGL01717:Sf3a2'
ID |
104984 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Sf3a2
|
Ensembl Gene |
ENSMUSG00000020211 |
Gene Name |
splicing factor 3a, subunit 2 |
Synonyms |
PRP11, 66kDa, Sap62, SFA66 |
Accession Numbers |
|
Essential gene? |
Probably essential
(E-score: 0.957)
|
Stock # |
IGL01717
|
Quality Score |
|
Status
|
|
Chromosome |
10 |
Chromosomal Location |
80634569-80640756 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 80640526 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Stop codon
at position 446
(Q446*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000117160
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020435]
[ENSMUST00000036016]
[ENSMUST00000147440]
[ENSMUST00000148665]
[ENSMUST00000151928]
[ENSMUST00000181039]
[ENSMUST00000181945]
|
AlphaFold |
no structure available at present |
Predicted Effect |
probably benign
Transcript: ENSMUST00000020435
|
SMART Domains |
Protein: ENSMUSP00000020435 Gene: ENSMUSG00000020216
Domain | Start | End | E-Value | Type |
low complexity region
|
52 |
77 |
N/A |
INTRINSIC |
Pfam:JSRP
|
79 |
138 |
1e-29 |
PFAM |
low complexity region
|
145 |
158 |
N/A |
INTRINSIC |
low complexity region
|
179 |
192 |
N/A |
INTRINSIC |
low complexity region
|
205 |
230 |
N/A |
INTRINSIC |
low complexity region
|
273 |
284 |
N/A |
INTRINSIC |
|
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 |
noncoding transcript
Transcript: ENSMUST00000139461
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000147440
|
SMART Domains |
Protein: ENSMUSP00000116478 Gene: ENSMUSG00000020211
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 null
Transcript: ENSMUST00000148665
AA Change: Q446*
|
SMART Domains |
Protein: ENSMUSP00000117160 Gene: ENSMUSG00000020211 AA Change: Q446*
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 benign
Transcript: ENSMUST00000151928
|
SMART Domains |
Protein: ENSMUSP00000114164 Gene: ENSMUSG00000020211
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 |
probably benign
Transcript: ENSMUST00000181039
|
SMART Domains |
Protein: ENSMUSP00000137666 Gene: ENSMUSG00000020216
Domain | Start | End | E-Value | Type |
low complexity region
|
92 |
117 |
N/A |
INTRINSIC |
Pfam:JSRP
|
118 |
179 |
1e-31 |
PFAM |
low complexity region
|
185 |
198 |
N/A |
INTRINSIC |
low complexity region
|
219 |
232 |
N/A |
INTRINSIC |
low complexity region
|
245 |
270 |
N/A |
INTRINSIC |
low complexity region
|
313 |
324 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000181945
|
SMART Domains |
Protein: ENSMUSP00000137960 Gene: ENSMUSG00000020216
Domain | Start | End | E-Value | Type |
transmembrane domain
|
53 |
75 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 32 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aif1 |
A |
T |
17: 35,390,531 (GRCm39) |
M73K |
probably damaging |
Het |
Alk |
T |
C |
17: 72,910,377 (GRCm39) |
I110V |
probably benign |
Het |
Aoah |
T |
C |
13: 21,184,147 (GRCm39) |
S404P |
probably damaging |
Het |
Bhlhe41 |
A |
G |
6: 145,808,763 (GRCm39) |
S350P |
possibly damaging |
Het |
Bltp1 |
A |
G |
3: 37,088,885 (GRCm39) |
S4112G |
probably benign |
Het |
Capn12 |
A |
G |
7: 28,588,530 (GRCm39) |
D540G |
probably benign |
Het |
Chd6 |
A |
G |
2: 160,807,179 (GRCm39) |
Y2012H |
possibly damaging |
Het |
Col1a1 |
A |
G |
11: 94,841,603 (GRCm39) |
T1284A |
unknown |
Het |
Col24a1 |
T |
C |
3: 145,230,018 (GRCm39) |
|
probably benign |
Het |
Col4a5 |
T |
A |
X: 140,422,234 (GRCm39) |
V1070D |
unknown |
Het |
Col6a5 |
T |
C |
9: 105,817,472 (GRCm39) |
T280A |
unknown |
Het |
Dicer1 |
A |
T |
12: 104,669,046 (GRCm39) |
L1212* |
probably null |
Het |
Gigyf1 |
T |
A |
5: 137,523,953 (GRCm39) |
V1041E |
probably damaging |
Het |
Gm4978 |
C |
T |
9: 69,358,155 (GRCm39) |
|
probably benign |
Het |
Gnai1 |
A |
G |
5: 18,496,459 (GRCm39) |
|
probably null |
Het |
Golgb1 |
C |
T |
16: 36,735,864 (GRCm39) |
R1704* |
probably null |
Het |
Incenp |
A |
G |
19: 9,870,629 (GRCm39) |
|
probably benign |
Het |
Lrrc39 |
A |
T |
3: 116,373,146 (GRCm39) |
|
probably benign |
Het |
Man2a2 |
T |
C |
7: 80,017,113 (GRCm39) |
K319E |
probably damaging |
Het |
Neb |
T |
C |
2: 52,079,879 (GRCm39) |
D83G |
probably damaging |
Het |
Osbpl6 |
T |
C |
2: 76,418,938 (GRCm39) |
I732T |
probably damaging |
Het |
Pacs1 |
T |
A |
19: 5,218,000 (GRCm39) |
K130N |
probably damaging |
Het |
Pappa2 |
A |
G |
1: 158,684,702 (GRCm39) |
|
probably null |
Het |
Pole2 |
T |
C |
12: 69,260,623 (GRCm39) |
M186V |
probably damaging |
Het |
Rwdd4a |
T |
C |
8: 47,997,140 (GRCm39) |
|
probably benign |
Het |
Sel1l3 |
A |
G |
5: 53,357,510 (GRCm39) |
Y161H |
probably damaging |
Het |
Slc26a3 |
T |
C |
12: 31,513,476 (GRCm39) |
I466T |
probably benign |
Het |
Slc29a4 |
A |
T |
5: 142,704,501 (GRCm39) |
I348F |
probably damaging |
Het |
Tbl1xr1 |
A |
G |
3: 22,247,335 (GRCm39) |
|
probably benign |
Het |
Tlr5 |
A |
T |
1: 182,802,963 (GRCm39) |
I756F |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,560,748 (GRCm39) |
L29218I |
probably damaging |
Het |
Ttn |
T |
A |
2: 76,560,746 (GRCm39) |
L29218F |
probably damaging |
Het |
|
Other mutations in Sf3a2 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
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 |
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 |
|
Posted On |
2014-01-21 |