Incidental Mutation 'R9575:Sf3a2'
| ID |
722245 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sf3a2
|
| Ensembl Gene |
ENSMUSG00000020211 |
| Gene Name |
splicing factor 3a, subunit 2 |
| Synonyms |
PRP11, 66kDa, Sap62, SFA66 |
| MMRRC Submission |
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.962)
|
| Stock # |
R9575 (G1)
|
| Quality Score |
105.491 |
|
Status
|
Not validated
|
| Chromosome |
10 |
| Chromosomal Location |
80634569-80640756 bp(+) (GRCm39) |
| Type of Mutation |
unclassified |
| DNA Base Change (assembly) |
ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT to ACTCCAGGGGTGCACCCACCAGCTCCAGGGGTGCACCCACCAGCTCCAGGGGT
at 80640271 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000137960
(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 |
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 benign
Transcript: ENSMUST00000148665
|
| SMART Domains |
Protein: ENSMUSP00000117160
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 27 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| B4galt4 |
T |
C |
16: 38,583,513 (GRCm39) |
Y253H |
probably damaging |
Het |
| Catsperd |
A |
G |
17: 56,935,231 (GRCm39) |
R15G |
unknown |
Het |
| Cep350 |
G |
A |
1: 155,751,113 (GRCm39) |
P2020S |
probably benign |
Het |
| Cip2a |
T |
A |
16: 48,838,754 (GRCm39) |
M857K |
probably benign |
Het |
| Fancm |
T |
A |
12: 65,152,314 (GRCm39) |
D923E |
possibly damaging |
Het |
| Fastk |
A |
G |
5: 24,650,067 (GRCm39) |
S27P |
probably benign |
Het |
| Flnc |
A |
G |
6: 29,454,399 (GRCm39) |
H1937R |
probably damaging |
Het |
| Gfm2 |
T |
C |
13: 97,285,906 (GRCm39) |
W132R |
probably damaging |
Het |
| Grhl1 |
T |
C |
12: 24,636,082 (GRCm39) |
I348T |
probably damaging |
Het |
| Gstcd |
G |
T |
3: 132,704,708 (GRCm39) |
H515Q |
probably damaging |
Het |
| Igsf3 |
A |
G |
3: 101,338,625 (GRCm39) |
Y313C |
probably damaging |
Het |
| Mbtd1 |
G |
A |
11: 93,799,764 (GRCm39) |
|
probably null |
Het |
| Myo9a |
T |
C |
9: 59,813,190 (GRCm39) |
S2130P |
probably damaging |
Het |
| Or3a10 |
A |
T |
11: 73,935,840 (GRCm39) |
C87S |
probably benign |
Het |
| Plpp4 |
T |
A |
7: 128,925,211 (GRCm39) |
F149I |
probably benign |
Het |
| Poglut1 |
T |
C |
16: 38,363,285 (GRCm39) |
T165A |
probably benign |
Het |
| Potefam3b |
A |
T |
8: 21,159,090 (GRCm39) |
D148V |
probably damaging |
Het |
| Rhbdf1 |
A |
G |
11: 32,163,101 (GRCm39) |
I425T |
probably benign |
Het |
| Slc6a9 |
T |
C |
4: 117,714,603 (GRCm39) |
S175P |
probably benign |
Het |
| Slitrk3 |
C |
T |
3: 72,956,127 (GRCm39) |
G882S |
probably benign |
Het |
| Spag9 |
A |
G |
11: 93,962,409 (GRCm39) |
I356M |
probably damaging |
Het |
| Spef2 |
A |
T |
15: 9,596,672 (GRCm39) |
L1459Q |
probably damaging |
Het |
| Tenm3 |
A |
T |
8: 48,688,796 (GRCm39) |
F2264I |
possibly damaging |
Het |
| Vmn2r3 |
T |
C |
3: 64,178,735 (GRCm39) |
N510S |
probably benign |
Het |
| Zfp866 |
A |
T |
8: 70,219,288 (GRCm39) |
C111S |
probably damaging |
Het |
| Zfp971 |
T |
A |
2: 177,675,303 (GRCm39) |
C301S |
probably damaging |
Het |
| Zfp976 |
T |
C |
7: 42,262,041 (GRCm39) |
T600A |
unknown |
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 |
|
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 |
|
|
R9663:Sf3a2
|
UTSW |
10 |
80,637,309 (GRCm39) |
missense |
probably damaging |
0.98 |
|
| Predicted Primers |
PCR Primer
(F):5'- CTCATGAATGGACTGCCTCC -3'
(R):5'- CCAGGATTTGAGGGGTGAAC -3'
Sequencing Primer
(F):5'- AATGGACTGCCTCCTCGCC -3'
(R):5'- TGAACCCCTGGAGGCTGAG -3'
|
| Posted On |
2022-08-09 |
Incidental Mutation