Incidental Mutation 'R6102:Rsrc1'
| ID |
485292 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| MMRRC Submission |
044252-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6102 (G1)
|
| Quality Score |
225.009 |
|
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: 99.6%
- 10x: 98.4%
- 20x: 95.6%
|
| Validation Efficiency |
97% (65/67) |
| 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: 67 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alox12e |
A |
G |
11: 70,210,849 (GRCm39) |
I290T |
possibly damaging |
Het |
| Apeh |
T |
A |
9: 107,963,638 (GRCm39) |
D559V |
probably damaging |
Het |
| Aspm |
T |
A |
1: 139,405,197 (GRCm39) |
Y1361* |
probably null |
Het |
| Atad5 |
G |
T |
11: 80,002,398 (GRCm39) |
|
probably null |
Het |
| Ccr4 |
C |
T |
9: 114,325,561 (GRCm39) |
|
probably null |
Het |
| Clasrp |
G |
A |
7: 19,320,393 (GRCm39) |
|
probably benign |
Het |
| Cldn23 |
A |
G |
8: 36,292,705 (GRCm39) |
M261T |
probably benign |
Het |
| Cmya5 |
T |
C |
13: 93,230,739 (GRCm39) |
M1450V |
probably benign |
Het |
| Cyp4v3 |
T |
A |
8: 45,773,197 (GRCm39) |
E202V |
probably damaging |
Het |
| Dnah7a |
A |
T |
1: 53,598,299 (GRCm39) |
V1412E |
probably benign |
Het |
| Dnah9 |
A |
G |
11: 65,881,342 (GRCm39) |
S2578P |
probably damaging |
Het |
| Dsc2 |
T |
A |
18: 20,180,165 (GRCm39) |
Y196F |
probably benign |
Het |
| Exoc1 |
T |
C |
5: 76,685,626 (GRCm39) |
S113P |
probably damaging |
Het |
| Fbxo6 |
A |
T |
4: 148,233,979 (GRCm39) |
I39N |
probably damaging |
Het |
| Frs3 |
C |
T |
17: 48,013,596 (GRCm39) |
H173Y |
probably damaging |
Het |
| Ginm1 |
G |
T |
10: 7,644,260 (GRCm39) |
T323K |
probably benign |
Het |
| Golgb1 |
T |
C |
16: 36,733,227 (GRCm39) |
S825P |
probably damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,812,681 (GRCm39) |
C11* |
probably null |
Het |
| Ighv3-3 |
G |
C |
12: 114,160,080 (GRCm39) |
A110G |
possibly damaging |
Het |
| Igkv6-20 |
G |
A |
6: 70,312,853 (GRCm39) |
H107Y |
probably benign |
Het |
| Kcnj16 |
A |
G |
11: 110,916,403 (GRCm39) |
E355G |
probably benign |
Het |
| Lig4 |
C |
T |
8: 10,022,872 (GRCm39) |
G303S |
probably damaging |
Het |
| Map1b |
A |
C |
13: 99,562,381 (GRCm39) |
V2443G |
unknown |
Het |
| Map3k6 |
T |
C |
4: 132,974,442 (GRCm39) |
|
probably null |
Het |
| Mmp13 |
A |
G |
9: 7,276,688 (GRCm39) |
Q261R |
probably benign |
Het |
| Mphosph9 |
T |
A |
5: 124,435,772 (GRCm39) |
I554F |
possibly damaging |
Het |
| Mrgpra3 |
A |
T |
7: 47,239,897 (GRCm39) |
F10I |
possibly damaging |
Het |
| Ms4a18 |
G |
A |
19: 10,990,887 (GRCm39) |
T69I |
probably benign |
Het |
| Mtmr3 |
T |
C |
11: 4,437,673 (GRCm39) |
N927S |
probably damaging |
Het |
| Necab1 |
T |
A |
4: 14,989,211 (GRCm39) |
Q188L |
probably benign |
Het |
| Nfatc2 |
A |
G |
2: 168,361,427 (GRCm39) |
|
probably benign |
Het |
| Or5i1 |
T |
C |
2: 87,613,192 (GRCm39) |
F103L |
probably damaging |
Het |
| Or5p70 |
T |
C |
7: 107,994,491 (GRCm39) |
S55P |
probably damaging |
Het |
| Or7g34 |
T |
C |
9: 19,478,318 (GRCm39) |
M121V |
possibly damaging |
Het |
| Paip2b |
A |
C |
6: 83,785,828 (GRCm39) |
V134G |
possibly damaging |
Het |
| Pax3 |
T |
C |
1: 78,108,984 (GRCm39) |
T225A |
probably damaging |
Het |
| Pbx1 |
C |
A |
1: 168,011,134 (GRCm39) |
A298S |
probably benign |
Het |
| Pcdhac2 |
A |
T |
18: 37,279,335 (GRCm39) |
K772* |
probably null |
Het |
| Pcsk4 |
A |
T |
10: 80,161,651 (GRCm39) |
Y163* |
probably null |
Het |
| Plcd3 |
A |
G |
11: 102,971,470 (GRCm39) |
V58A |
probably damaging |
Het |
| Plek2 |
T |
A |
12: 78,946,867 (GRCm39) |
T57S |
possibly damaging |
Het |
| Plscr2 |
C |
T |
9: 92,169,721 (GRCm39) |
T57I |
probably benign |
Het |
| Ppp2r5b |
A |
G |
19: 6,284,768 (GRCm39) |
S32P |
probably benign |
Het |
| Ppp3r2 |
C |
T |
4: 49,682,022 (GRCm39) |
|
probably benign |
Het |
| Psme4 |
T |
A |
11: 30,815,567 (GRCm39) |
L1693H |
probably damaging |
Het |
| Rrbp1 |
T |
A |
2: 143,830,313 (GRCm39) |
Q618L |
probably damaging |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Serpina3b |
A |
T |
12: 104,100,428 (GRCm39) |
T337S |
probably benign |
Het |
| Slc18a2 |
T |
C |
19: 59,282,310 (GRCm39) |
Y506H |
probably benign |
Het |
| Slc9a9 |
A |
G |
9: 94,818,482 (GRCm39) |
Y292C |
probably benign |
Het |
| Spta1 |
T |
C |
1: 174,052,086 (GRCm39) |
V1840A |
probably benign |
Het |
| Ssb |
T |
C |
2: 69,701,552 (GRCm39) |
*416Q |
probably null |
Het |
| Strada |
A |
G |
11: 106,059,262 (GRCm39) |
V209A |
probably benign |
Het |
| Tbc1d31 |
A |
T |
15: 57,799,489 (GRCm39) |
D225V |
probably damaging |
Het |
| Tgm4 |
T |
C |
9: 122,885,600 (GRCm39) |
F381L |
probably benign |
Het |
| Tmem120b |
T |
A |
5: 123,253,207 (GRCm39) |
Y203N |
probably damaging |
Het |
| Tmem176b |
A |
G |
6: 48,812,868 (GRCm39) |
V109A |
probably benign |
Het |
| Tnfrsf11a |
C |
A |
1: 105,747,671 (GRCm39) |
L201M |
possibly damaging |
Het |
| Ttn |
C |
A |
2: 76,804,694 (GRCm39) |
|
probably null |
Het |
| Tubb2a |
T |
C |
13: 34,259,326 (GRCm39) |
I155V |
probably benign |
Het |
| Vmn1r5 |
A |
G |
6: 56,963,099 (GRCm39) |
D258G |
probably damaging |
Het |
| Vmn2r121 |
T |
C |
X: 123,043,272 (GRCm39) |
T120A |
probably benign |
Het |
| Vmn2r19 |
A |
T |
6: 123,306,907 (GRCm39) |
I472F |
probably damaging |
Het |
| Vwa3a |
A |
G |
7: 120,375,361 (GRCm39) |
|
probably null |
Het |
| Zfp273 |
A |
G |
13: 67,970,466 (GRCm39) |
Y5C |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
| Zfp825 |
A |
G |
13: 74,628,772 (GRCm39) |
L248P |
probably damaging |
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 |
|
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 |
|
|
R6129: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'- AGAGCCAAGCACATGTTAGTTT -3'
(R):5'- GCTTTTGGGAGAAAGGTTGC -3'
|
| Posted On |
2017-08-16 |
Incidental Mutation