Incidental Mutation 'IGL02997:Sf3a2'
| ID |
407180 |
| 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: 0.962)
|
| Stock # |
IGL02997
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
10 |
| Chromosomal Location |
80634569-80640756 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 80639454 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 148
(R148H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000117160
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000020435]
[ENSMUST00000036016]
[ENSMUST00000036805]
[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: 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 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 damaging
Transcript: ENSMUST00000148665
AA Change: R148H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000117160
Gene: ENSMUSG00000020211
AA Change: R148H
| 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: R148H
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000114164
Gene: ENSMUSG00000020211
AA Change: R148H
| 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: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca8a |
A |
G |
11: 109,966,359 (GRCm39) |
|
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,817,353 (GRCm39) |
|
probably benign |
Het |
| Arsa |
T |
C |
15: 89,358,241 (GRCm39) |
D356G |
probably damaging |
Het |
| Cmbl |
A |
G |
15: 31,585,490 (GRCm39) |
K113E |
probably benign |
Het |
| Cmklr1 |
T |
C |
5: 113,752,701 (GRCm39) |
D100G |
probably benign |
Het |
| Col23a1 |
T |
A |
11: 51,467,979 (GRCm39) |
C517S |
probably damaging |
Het |
| Frem1 |
T |
A |
4: 82,853,205 (GRCm39) |
L1699F |
probably damaging |
Het |
| Ganab |
A |
G |
19: 8,892,776 (GRCm39) |
D900G |
probably benign |
Het |
| Glrp1 |
T |
C |
1: 88,437,507 (GRCm39) |
|
probably benign |
Het |
| Gys2 |
A |
T |
6: 142,395,195 (GRCm39) |
D423E |
probably damaging |
Het |
| H2-T9 |
A |
G |
17: 36,438,728 (GRCm39) |
V221A |
possibly damaging |
Het |
| Hp |
C |
A |
8: 110,302,418 (GRCm39) |
V177F |
probably damaging |
Het |
| Isoc1 |
T |
C |
18: 58,804,516 (GRCm39) |
|
probably benign |
Het |
| Kif18b |
A |
G |
11: 102,799,910 (GRCm39) |
L513P |
probably damaging |
Het |
| Kifc2 |
T |
C |
15: 76,548,539 (GRCm39) |
V342A |
possibly damaging |
Het |
| Krt78 |
A |
T |
15: 101,855,598 (GRCm39) |
S738T |
probably benign |
Het |
| Lats1 |
A |
G |
10: 7,578,018 (GRCm39) |
N381D |
possibly damaging |
Het |
| Masp2 |
C |
A |
4: 148,687,632 (GRCm39) |
|
probably benign |
Het |
| Mybpc1 |
G |
T |
10: 88,362,235 (GRCm39) |
N982K |
probably damaging |
Het |
| Ncor2 |
A |
T |
5: 125,196,634 (GRCm39) |
|
probably benign |
Het |
| Nkg7 |
T |
C |
7: 43,087,291 (GRCm39) |
F133L |
probably damaging |
Het |
| Nlrp1a |
A |
T |
11: 71,014,491 (GRCm39) |
I253N |
probably damaging |
Het |
| Nlrp4e |
G |
T |
7: 23,000,799 (GRCm39) |
Q31H |
probably benign |
Het |
| Or4p22 |
A |
C |
2: 88,317,732 (GRCm39) |
I219L |
probably damaging |
Het |
| Orc6 |
T |
A |
8: 86,032,837 (GRCm39) |
|
probably benign |
Het |
| Pbrm1 |
C |
T |
14: 30,783,508 (GRCm39) |
L542F |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,333,797 (GRCm39) |
I37T |
probably damaging |
Het |
| Pex5l |
C |
A |
3: 33,009,991 (GRCm39) |
|
probably benign |
Het |
| Prl2b1 |
A |
G |
13: 27,569,087 (GRCm39) |
|
probably benign |
Het |
| Rnf168 |
G |
A |
16: 32,104,239 (GRCm39) |
E146K |
probably damaging |
Het |
| Rsph6a |
T |
G |
7: 18,788,764 (GRCm39) |
L32R |
probably benign |
Het |
| Scaper |
C |
T |
9: 55,722,783 (GRCm39) |
R675H |
probably damaging |
Het |
| Shank2 |
A |
G |
7: 143,635,610 (GRCm39) |
N328S |
probably benign |
Het |
| Smurf1 |
T |
A |
5: 144,834,815 (GRCm39) |
R153* |
probably null |
Het |
| Sorcs2 |
C |
T |
5: 36,225,492 (GRCm39) |
V126M |
probably damaging |
Het |
| Tamalin |
T |
C |
15: 101,128,899 (GRCm39) |
S216P |
probably damaging |
Het |
| Trav7d-4 |
T |
C |
14: 53,007,713 (GRCm39) |
S69P |
probably damaging |
Het |
| Trh |
G |
T |
6: 92,220,115 (GRCm39) |
|
probably benign |
Het |
| Utp20 |
A |
G |
10: 88,649,896 (GRCm39) |
V438A |
probably benign |
Het |
| Utp25 |
T |
C |
1: 192,802,892 (GRCm39) |
Q275R |
probably benign |
Het |
| Wdfy3 |
T |
C |
5: 102,042,778 (GRCm39) |
E1991G |
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 |
|
|
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 |
2016-08-02 |
Incidental Mutation