Incidental Mutation 'R2916:Srsf12'
ID |
254874 |
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 # |
R2916 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
4 |
Chromosomal Location |
33208991-33233340 bp(+) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
C to T
at 33231042 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Stop codon
at position 179
(R179*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000103794
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067864]
[ENSMUST00000108159]
|
AlphaFold |
Q8C8K3 |
Predicted Effect |
probably null
Transcript: ENSMUST00000067864
AA Change: R184*
|
SMART Domains |
Protein: ENSMUSP00000067939 Gene: ENSMUSG00000054679 AA Change: R184*
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 null
Transcript: ENSMUST00000108159
AA Change: R179*
|
SMART Domains |
Protein: ENSMUSP00000103794 Gene: ENSMUSG00000054679 AA Change: R179*
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: 99.1%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 94.9%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 18 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Anxa13 |
T |
C |
15: 58,208,476 (GRCm39) |
|
noncoding transcript |
Het |
Brd7 |
A |
G |
8: 89,069,408 (GRCm39) |
I429T |
probably damaging |
Het |
Btbd10 |
T |
C |
7: 112,932,031 (GRCm39) |
M124V |
probably benign |
Het |
Dysf |
G |
A |
6: 84,163,491 (GRCm39) |
|
probably null |
Het |
Ephb2 |
T |
C |
4: 136,411,256 (GRCm39) |
D468G |
probably damaging |
Het |
Fig4 |
A |
G |
10: 41,134,071 (GRCm39) |
F404S |
probably damaging |
Het |
Hcn3 |
A |
G |
3: 89,054,920 (GRCm39) |
S776P |
probably benign |
Het |
Hivep2 |
C |
A |
10: 14,004,713 (GRCm39) |
T437K |
probably benign |
Het |
Il17re |
G |
A |
6: 113,442,989 (GRCm39) |
|
probably null |
Het |
Mug2 |
A |
G |
6: 122,051,683 (GRCm39) |
|
probably null |
Het |
Nudt9 |
C |
A |
5: 104,203,424 (GRCm39) |
A121E |
probably damaging |
Het |
Or2aa1 |
T |
C |
11: 59,480,265 (GRCm39) |
T217A |
probably benign |
Het |
Pdcd11 |
AGAGGAGGAGGAGGAGGAGGAGGAG |
AGAGGAGGAGGAGGAGGAGGAG |
19: 47,101,876 (GRCm39) |
|
probably benign |
Het |
Pkdcc |
G |
C |
17: 83,523,378 (GRCm39) |
A162P |
probably benign |
Het |
Rassf4 |
A |
G |
6: 116,618,701 (GRCm39) |
V194A |
probably damaging |
Het |
Rps24 |
T |
C |
14: 24,542,009 (GRCm39) |
V23A |
probably benign |
Het |
Six3 |
A |
T |
17: 85,929,061 (GRCm39) |
I132F |
probably benign |
Het |
Zbtb14 |
C |
T |
17: 69,695,214 (GRCm39) |
P304L |
probably damaging |
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 |
|
R2989:Srsf12
|
UTSW |
4 |
33,223,599 (GRCm39) |
missense |
probably damaging |
1.00 |
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 |
PCR Primer
(F):5'- TATGTCCCATTCCAACCATAGC -3'
(R):5'- CAGAACTGGTGTACGCTCTG -3'
Sequencing Primer
(F):5'- TCAGGAAGAGCTGTCTTAACCTGC -3'
(R):5'- ACGCTCTGGGAGACTTGCATG -3'
|
Posted On |
2014-12-29 |