Incidental Mutation 'R0704:Srsf12'
| ID |
63082 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Srsf12
|
| Ensembl Gene |
ENSMUSG00000054679 |
| Gene Name |
serine and arginine-rich splicing factor 12 |
| Synonyms |
Sfrs13b, Srrp |
| MMRRC Submission |
038887-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.112)
|
| Stock # |
R0704 (G1)
|
| Quality Score |
109 |
|
Status
|
Not validated
|
| Chromosome |
4 |
| Chromosomal Location |
33208991-33233340 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 33231069 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Glycine
at position 188
(R188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000103794
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000067864]
[ENSMUST00000108159]
|
| AlphaFold |
Q8C8K3 |
| Predicted Effect |
possibly damaging
Transcript: ENSMUST00000067864
AA Change: R193G
PolyPhen 2
Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000067939
Gene: ENSMUSG00000054679
AA Change: R193G
| 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: R188G
PolyPhen 2
Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000103794
Gene: ENSMUSG00000054679
AA Change: R188G
| 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: 99.4%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.0%
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 36 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930433I11Rik |
T |
A |
7: 40,643,381 (GRCm39) |
L441Q |
probably damaging |
Het |
| Abca15 |
A |
T |
7: 119,953,746 (GRCm39) |
E550V |
probably damaging |
Het |
| Adcy4 |
A |
G |
14: 56,010,213 (GRCm39) |
F690L |
probably benign |
Het |
| Aspg |
T |
A |
12: 112,080,906 (GRCm39) |
N132K |
probably damaging |
Het |
| B430305J03Rik |
A |
T |
3: 61,271,414 (GRCm39) |
Y110* |
probably null |
Het |
| Cep135 |
A |
G |
5: 76,778,796 (GRCm39) |
E741G |
possibly damaging |
Het |
| Cplane1 |
T |
C |
15: 8,239,567 (GRCm39) |
V1256A |
possibly damaging |
Het |
| Dkkl1 |
T |
C |
7: 44,859,539 (GRCm39) |
K128E |
probably damaging |
Het |
| Duox2 |
A |
T |
2: 122,115,249 (GRCm39) |
M1101K |
probably benign |
Het |
| Gpr89 |
T |
C |
3: 96,787,484 (GRCm39) |
|
probably null |
Het |
| Hormad1 |
T |
C |
3: 95,473,997 (GRCm39) |
|
probably null |
Het |
| Hsh2d |
G |
A |
8: 72,954,304 (GRCm39) |
D229N |
probably benign |
Het |
| Ipo9 |
ATCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTC |
1: 135,314,006 (GRCm39) |
|
probably benign |
Het |
| Itga2 |
A |
G |
13: 114,998,911 (GRCm39) |
F658S |
possibly damaging |
Het |
| Kcnc4 |
T |
C |
3: 107,355,279 (GRCm39) |
I390V |
possibly damaging |
Het |
| Krt84 |
G |
T |
15: 101,441,112 (GRCm39) |
H27N |
probably benign |
Het |
| Lama5 |
A |
G |
2: 179,821,277 (GRCm39) |
I3095T |
possibly damaging |
Het |
| Mef2a |
G |
T |
7: 66,884,896 (GRCm39) |
S406* |
probably null |
Het |
| Ms4a1 |
T |
C |
19: 11,230,596 (GRCm39) |
T202A |
probably benign |
Het |
| Nrbp2 |
A |
G |
15: 75,960,801 (GRCm39) |
S294P |
probably damaging |
Het |
| Or6b13 |
A |
G |
7: 139,782,548 (GRCm39) |
V45A |
probably benign |
Het |
| Or6c215 |
A |
G |
10: 129,638,172 (GRCm39) |
V74A |
probably benign |
Het |
| Pde4b |
C |
T |
4: 102,344,589 (GRCm39) |
L155F |
probably damaging |
Het |
| Pds5a |
A |
G |
5: 65,777,928 (GRCm39) |
S6P |
probably damaging |
Het |
| Ralgapa2 |
A |
T |
2: 146,293,704 (GRCm39) |
L150Q |
probably damaging |
Het |
| Reln |
C |
T |
5: 22,101,809 (GRCm39) |
V3374I |
probably damaging |
Het |
| Rgs12 |
T |
G |
5: 35,180,466 (GRCm39) |
S253A |
possibly damaging |
Het |
| Sap130 |
C |
A |
18: 31,786,607 (GRCm39) |
T266K |
probably damaging |
Het |
| Sis |
T |
C |
3: 72,857,155 (GRCm39) |
I379V |
possibly damaging |
Het |
| Slc39a10 |
T |
A |
1: 46,875,021 (GRCm39) |
I94F |
possibly damaging |
Het |
| Sptb |
A |
T |
12: 76,630,368 (GRCm39) |
N2263K |
probably damaging |
Het |
| Ssxb9 |
T |
G |
X: 8,238,022 (GRCm39) |
S130R |
probably damaging |
Het |
| Tg |
A |
G |
15: 66,629,729 (GRCm39) |
D470G |
probably benign |
Het |
| Urb1 |
T |
C |
16: 90,573,095 (GRCm39) |
Q979R |
probably benign |
Het |
| Vmn1r28 |
G |
A |
6: 58,242,702 (GRCm39) |
A182T |
probably benign |
Het |
| Zfp78 |
T |
A |
7: 6,382,251 (GRCm39) |
C402S |
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 |
|
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 |
|
|
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'- AAGAGCTGTCTTAACCTGCTGCC -3'
(R):5'- TTAACCACAGCGAGGTGTGAGAGC -3'
Sequencing Primer
(F):5'- TGCTGCCCTGTATAAAATACACG -3'
(R):5'- GTAACTCCGAGATCTGGAGTG -3'
|
| Posted On |
2013-07-30 |
Incidental Mutation