Incidental Mutation 'R2989:Srsf12'
| ID |
477449 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf12
|
| Ensembl Gene |
ENSMUSG00000054679 |
| Gene Name |
serine and arginine-rich splicing factor 12 |
| Synonyms |
Sfrs13b, Srrp |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R2989 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33208991-33233340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 33223599 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Tyrosine to Histidine
at position 33
(Y33H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067864]
[ENSMUST00000108159]
|
| AlphaFold |
Q8C8K3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000067864
|
| SMART Domains |
Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
31 |
75 |
N/A |
INTRINSIC |
|
low complexity region
|
79 |
96 |
N/A |
INTRINSIC |
|
low complexity region
|
110 |
141 |
N/A |
INTRINSIC |
|
low complexity region
|
145 |
166 |
N/A |
INTRINSIC |
|
low complexity region
|
172 |
196 |
N/A |
INTRINSIC |
|
internal_repeat_1
|
204 |
216 |
9.52e-5 |
PROSPERO |
|
internal_repeat_1
|
232 |
244 |
9.52e-5 |
PROSPERO |
|
low complexity region
|
248 |
262 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000108159
AA Change: Y33H
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: Y33H
| Domain | Start | End | E-Value | Type |
|---|
|
RRM
|
11 |
84 |
9.99e-24 |
SMART |
|
low complexity region
|
105 |
136 |
N/A |
INTRINSIC |
|
low complexity region
|
140 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
167 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
243 |
257 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.1%
- 20x: 94.4%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 23 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrv1 |
G |
A |
13: 81,729,866 (GRCm39) |
T205I |
probably damaging |
Het |
| Arhgap32 |
T |
A |
9: 32,150,694 (GRCm39) |
N31K |
possibly damaging |
Het |
| C1galt1 |
A |
G |
6: 7,866,622 (GRCm39) |
D156G |
possibly damaging |
Het |
| Chrna3 |
C |
T |
9: 54,923,334 (GRCm39) |
C158Y |
probably damaging |
Het |
| Cnot1 |
T |
C |
8: 96,470,906 (GRCm39) |
E1314G |
possibly damaging |
Het |
| Coil |
C |
A |
11: 88,878,805 (GRCm39) |
A520D |
probably damaging |
Het |
| Cpe |
G |
T |
8: 65,050,549 (GRCm39) |
N386K |
probably benign |
Het |
| Fat4 |
T |
C |
3: 39,061,302 (GRCm39) |
I4295T |
probably benign |
Het |
| Foxn1 |
C |
G |
11: 78,249,603 (GRCm39) |
G641R |
possibly damaging |
Het |
| G530012D18Rik |
GAGAGAGACAGAGAGACAGAGA |
GAGAGAGACAGAGA |
1: 85,504,937 (GRCm39) |
|
probably null |
Het |
| Intu |
A |
G |
3: 40,647,140 (GRCm39) |
K671R |
probably benign |
Het |
| Jup |
T |
C |
11: 100,267,667 (GRCm39) |
D552G |
possibly damaging |
Het |
| Kcnk9 |
T |
C |
15: 72,384,207 (GRCm39) |
T324A |
unknown |
Het |
| Mettl5 |
G |
T |
2: 69,711,659 (GRCm39) |
A69E |
probably damaging |
Het |
| Or8b3b |
A |
T |
9: 38,583,831 (GRCm39) |
M303K |
probably benign |
Het |
| Rpf2 |
A |
G |
10: 40,115,749 (GRCm39) |
S77P |
probably benign |
Het |
| Sgo1 |
A |
G |
17: 53,994,162 (GRCm39) |
Y97H |
probably benign |
Het |
| Tcerg1 |
T |
A |
18: 42,652,540 (GRCm39) |
M56K |
unknown |
Het |
| Trafd1 |
T |
C |
5: 121,517,529 (GRCm39) |
T63A |
probably damaging |
Het |
| Ttc28 |
G |
A |
5: 111,371,881 (GRCm39) |
V777I |
probably benign |
Het |
| Ubr4 |
A |
G |
4: 139,190,869 (GRCm39) |
E937G |
possibly damaging |
Het |
| Zfp677 |
T |
C |
17: 21,617,114 (GRCm39) |
I57T |
probably benign |
Het |
| Zfp981 |
T |
A |
4: 146,622,347 (GRCm39) |
I424N |
probably benign |
Het |
|
| Other mutations in Srsf12 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00952:Srsf12
|
APN |
4 |
33,226,103 (GRCm39) |
missense |
possibly damaging |
0.66 |
|
IGL02245:Srsf12
|
APN |
4 |
33,209,103 (GRCm39) |
unclassified |
probably benign |
|
|
IGL03197:Srsf12
|
APN |
4 |
33,231,040 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL03412:Srsf12
|
APN |
4 |
33,230,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0173:Srsf12
|
UTSW |
4 |
33,226,117 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Srsf12
|
UTSW |
4 |
33,231,069 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1618:Srsf12
|
UTSW |
4 |
33,230,974 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2130:Srsf12
|
UTSW |
4 |
33,225,764 (GRCm39) |
critical splice acceptor site |
probably benign |
|
|
R2916:Srsf12
|
UTSW |
4 |
33,231,042 (GRCm39) |
nonsense |
probably null |
|
|
R4350:Srsf12
|
UTSW |
4 |
33,223,612 (GRCm39) |
missense |
possibly damaging |
0.80 |
|
R4946:Srsf12
|
UTSW |
4 |
33,231,174 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R5358:Srsf12
|
UTSW |
4 |
33,209,330 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5802:Srsf12
|
UTSW |
4 |
33,230,929 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6577:Srsf12
|
UTSW |
4 |
33,209,196 (GRCm39) |
unclassified |
probably benign |
|
|
R7055:Srsf12
|
UTSW |
4 |
33,226,157 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7392:Srsf12
|
UTSW |
4 |
33,209,265 (GRCm39) |
missense |
unknown |
|
|
R8365:Srsf12
|
UTSW |
4 |
33,226,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8366:Srsf12
|
UTSW |
4 |
33,226,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8388:Srsf12
|
UTSW |
4 |
33,226,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8389:Srsf12
|
UTSW |
4 |
33,226,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8391:Srsf12
|
UTSW |
4 |
33,226,070 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8696:Srsf12
|
UTSW |
4 |
33,231,181 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R8698:Srsf12
|
UTSW |
4 |
33,231,246 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R8815:Srsf12
|
UTSW |
4 |
33,226,045 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R9653:Srsf12
|
UTSW |
4 |
33,231,249 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
| Predicted Primers |
|
| Posted On |
2017-05-15 |
Incidental Mutation