Incidental Mutation 'R6129:Rsrc1'
| ID |
487555 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| MMRRC Submission |
044276-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6129 (G1)
|
| Quality Score |
200.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
66888723-67265729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 66901982 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Leucine
at position 44
(P44L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125547
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046542]
[ENSMUST00000065047]
[ENSMUST00000065074]
[ENSMUST00000160504]
[ENSMUST00000161726]
[ENSMUST00000162036]
[ENSMUST00000162362]
[ENSMUST00000162693]
|
| AlphaFold |
Q9DBU6 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000046542
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
116 |
N/A |
INTRINSIC |
|
coiled coil region
|
138 |
191 |
N/A |
INTRINSIC |
|
low complexity region
|
223 |
236 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000065047
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
109 |
N/A |
INTRINSIC |
|
coiled coil region
|
122 |
175 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000065074
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000160504
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161726
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162036
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
95 |
N/A |
INTRINSIC |
|
low complexity region
|
98 |
159 |
N/A |
INTRINSIC |
|
coiled coil region
|
180 |
233 |
N/A |
INTRINSIC |
|
low complexity region
|
265 |
278 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162362
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162693
AA Change: P44L
|
| SMART Domains |
Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: P44L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
88 |
N/A |
INTRINSIC |
|
low complexity region
|
96 |
157 |
N/A |
INTRINSIC |
|
coiled coil region
|
178 |
231 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162620
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182708
|
| Meta Mutation Damage Score |
0.0869 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.5%
- 20x: 95.8%
|
| Validation Efficiency |
100% (54/54) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the serine and arginine rich-related protein family. The encoded protein is involved in both constitutive and alternative mRNA splicing. This gene may be associated with schizophrenia. A pseudogene of this gene is located on chromosome 9. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2012]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 54 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2810408A11Rik |
T |
A |
11: 69,789,137 (GRCm39) |
Y354F |
probably damaging |
Het |
| Aatk |
C |
T |
11: 119,912,359 (GRCm39) |
G29S |
probably damaging |
Het |
| Acsm2 |
G |
A |
7: 119,190,470 (GRCm39) |
|
probably null |
Het |
| Adgrl1 |
A |
G |
8: 84,645,616 (GRCm39) |
N80D |
probably damaging |
Het |
| Ankrd34a |
T |
A |
3: 96,505,274 (GRCm39) |
Y159* |
probably null |
Het |
| Bcl2l2 |
G |
A |
14: 55,122,202 (GRCm39) |
V122M |
possibly damaging |
Het |
| Brms1l |
A |
G |
12: 55,914,970 (GRCm39) |
H293R |
probably benign |
Het |
| Ccn1 |
T |
C |
3: 145,354,986 (GRCm39) |
I90V |
possibly damaging |
Het |
| Clec4b1 |
A |
G |
6: 123,045,461 (GRCm39) |
T94A |
possibly damaging |
Het |
| Crim1 |
A |
G |
17: 78,588,738 (GRCm39) |
D271G |
probably benign |
Het |
| Csmd2 |
G |
A |
4: 128,387,127 (GRCm39) |
G2141S |
possibly damaging |
Het |
| Cspg4b |
T |
A |
13: 113,505,340 (GRCm39) |
Y2156* |
probably null |
Het |
| Ctnnal1 |
C |
A |
4: 56,829,573 (GRCm39) |
A419S |
possibly damaging |
Het |
| Cyp27a1 |
G |
A |
1: 74,774,851 (GRCm39) |
R264H |
probably benign |
Het |
| Dnase1l1 |
C |
T |
X: 73,320,644 (GRCm39) |
|
probably null |
Het |
| Dsc2 |
T |
A |
18: 20,178,487 (GRCm39) |
T306S |
possibly damaging |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Ermp1 |
A |
T |
19: 29,600,609 (GRCm39) |
Y586N |
possibly damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
C |
T |
7: 39,058,024 (GRCm39) |
A532T |
possibly damaging |
Het |
| Gm5431 |
A |
G |
11: 48,780,418 (GRCm39) |
L168P |
probably damaging |
Het |
| Hao2 |
T |
C |
3: 98,787,842 (GRCm39) |
T196A |
probably benign |
Het |
| Hdac9 |
A |
C |
12: 34,337,474 (GRCm39) |
L669R |
probably damaging |
Het |
| Hps5 |
A |
G |
7: 46,421,198 (GRCm39) |
V755A |
probably benign |
Het |
| Jag2 |
G |
T |
12: 112,883,969 (GRCm39) |
Y203* |
probably null |
Het |
| Lrrn3 |
G |
A |
12: 41,503,787 (GRCm39) |
Q177* |
probably null |
Het |
| Me1 |
A |
T |
9: 86,533,009 (GRCm39) |
V151E |
probably damaging |
Het |
| Mkx |
A |
G |
18: 6,992,888 (GRCm39) |
V132A |
probably damaging |
Het |
| Mycbp2 |
A |
G |
14: 103,522,836 (GRCm39) |
S643P |
probably benign |
Het |
| Mysm1 |
C |
A |
4: 94,856,192 (GRCm39) |
R135L |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,011,483 (GRCm39) |
F4L |
probably benign |
Het |
| Pappa2 |
A |
T |
1: 158,542,567 (GRCm39) |
C1773* |
probably null |
Het |
| Pcbp3 |
T |
C |
10: 76,599,182 (GRCm39) |
E318G |
probably damaging |
Het |
| Pcdh12 |
T |
C |
18: 38,410,912 (GRCm39) |
K984E |
probably damaging |
Het |
| Pcna-ps2 |
A |
G |
19: 9,261,379 (GRCm39) |
N213D |
possibly damaging |
Het |
| Pde8b |
G |
A |
13: 95,178,467 (GRCm39) |
A509V |
probably damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Phf7 |
A |
G |
14: 30,962,820 (GRCm39) |
Y137H |
probably damaging |
Het |
| Pkd1l1 |
A |
G |
11: 8,818,543 (GRCm39) |
V1315A |
probably benign |
Het |
| Plxnd1 |
A |
G |
6: 115,955,135 (GRCm39) |
C571R |
probably damaging |
Het |
| Ppp1r12b |
C |
T |
1: 134,819,990 (GRCm39) |
W251* |
probably null |
Het |
| Prps1l1 |
A |
G |
12: 35,035,329 (GRCm39) |
E148G |
probably damaging |
Het |
| Robo1 |
A |
T |
16: 72,809,956 (GRCm39) |
M1235L |
probably benign |
Het |
| Robo3 |
A |
G |
9: 37,334,589 (GRCm39) |
Y592H |
probably benign |
Het |
| Rufy1 |
A |
T |
11: 50,308,075 (GRCm39) |
L259Q |
probably damaging |
Het |
| Rusc2 |
T |
C |
4: 43,424,271 (GRCm39) |
F1112S |
probably damaging |
Het |
| Sap130 |
T |
C |
18: 31,815,144 (GRCm39) |
V622A |
possibly damaging |
Het |
| Sptbn4 |
C |
A |
7: 27,059,513 (GRCm39) |
C1124F |
probably damaging |
Het |
| Stk10 |
T |
A |
11: 32,565,871 (GRCm39) |
C872S |
probably damaging |
Het |
| Tex15 |
A |
T |
8: 34,064,158 (GRCm39) |
N1196I |
possibly damaging |
Het |
| Tnxa |
A |
G |
17: 35,019,262 (GRCm39) |
|
probably benign |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zscan4b |
T |
A |
7: 10,635,815 (GRCm39) |
T171S |
probably benign |
Het |
|
| Other mutations in Rsrc1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00499:Rsrc1
|
APN |
3 |
66,989,933 (GRCm39) |
intron |
probably benign |
|
|
IGL03180:Rsrc1
|
APN |
3 |
66,989,876 (GRCm39) |
intron |
probably benign |
|
|
R0200:Rsrc1
|
UTSW |
3 |
67,088,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0463:Rsrc1
|
UTSW |
3 |
67,088,194 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1175:Rsrc1
|
UTSW |
3 |
67,263,551 (GRCm39) |
splice site |
probably benign |
|
|
R1293:Rsrc1
|
UTSW |
3 |
67,263,612 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1677:Rsrc1
|
UTSW |
3 |
67,262,808 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R1981:Rsrc1
|
UTSW |
3 |
67,257,338 (GRCm39) |
missense |
probably benign |
0.18 |
|
R2039:Rsrc1
|
UTSW |
3 |
66,901,951 (GRCm39) |
missense |
unknown |
|
|
R4222:Rsrc1
|
UTSW |
3 |
66,901,900 (GRCm39) |
missense |
unknown |
|
|
R4624:Rsrc1
|
UTSW |
3 |
67,257,311 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4852:Rsrc1
|
UTSW |
3 |
67,262,935 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6102:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6103:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6104:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6127:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6153:Rsrc1
|
UTSW |
3 |
67,262,895 (GRCm39) |
missense |
probably benign |
0.33 |
|
R6409:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6410:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6411:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6412:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6422:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6424:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6442:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6487:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6899:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6910:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6911:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6912:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6916:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6917:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6930:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6931:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6994:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6995:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R6997:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R7010:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R7015:Rsrc1
|
UTSW |
3 |
66,901,982 (GRCm39) |
missense |
unknown |
|
|
R7048:Rsrc1
|
UTSW |
3 |
67,088,164 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7078:Rsrc1
|
UTSW |
3 |
66,901,987 (GRCm39) |
missense |
unknown |
|
|
R9301:Rsrc1
|
UTSW |
3 |
67,197,680 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9683:Rsrc1
|
UTSW |
3 |
67,257,328 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Z1176:Rsrc1
|
UTSW |
3 |
67,257,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGAGCCAAGCACATGTTAGT -3'
(R):5'- GCTTTTGGGAGAAAGGTTGCA -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTTTGGGAGAAAGGTTGCAAAGGTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation