Incidental Mutation 'R6411:Rsrc1'
ID |
514592 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsrc1
|
Ensembl Gene |
ENSMUSG00000034544 |
Gene Name |
arginine/serine-rich coiled-coil 1 |
Synonyms |
SRrp53, 1200013F24Rik |
MMRRC Submission |
044384-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R6411 (G1)
|
Quality Score |
225.009 |
Status
|
Not 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: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.6%
|
Validation Efficiency |
|
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: 24 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Capn7 |
A |
G |
14: 31,062,053 (GRCm39) |
E55G |
probably benign |
Het |
Carmil2 |
G |
T |
8: 106,423,658 (GRCm39) |
D1211Y |
probably damaging |
Het |
Carns1 |
G |
T |
19: 4,216,463 (GRCm39) |
A573E |
probably damaging |
Het |
Dennd4a |
A |
G |
9: 64,779,181 (GRCm39) |
R555G |
probably benign |
Het |
Guf1 |
T |
C |
5: 69,717,854 (GRCm39) |
I204T |
possibly damaging |
Het |
Hgsnat |
C |
T |
8: 26,436,303 (GRCm39) |
V584M |
possibly damaging |
Het |
Izumo2 |
A |
T |
7: 44,369,184 (GRCm39) |
Q186L |
probably benign |
Het |
Lmtk2 |
A |
T |
5: 144,111,404 (GRCm39) |
Q708L |
probably damaging |
Het |
Mitf |
T |
C |
6: 97,987,433 (GRCm39) |
|
probably null |
Het |
Myo9b |
T |
A |
8: 71,775,599 (GRCm39) |
Y340* |
probably null |
Het |
Naip5 |
A |
G |
13: 100,359,913 (GRCm39) |
I441T |
probably benign |
Het |
Nbea |
A |
C |
3: 55,712,778 (GRCm39) |
S2100A |
probably benign |
Het |
Or10ag60 |
G |
T |
2: 87,438,317 (GRCm39) |
C195F |
probably damaging |
Het |
Or2t47 |
T |
A |
11: 58,442,483 (GRCm39) |
Y194F |
probably damaging |
Het |
Or5a3 |
G |
A |
19: 12,400,350 (GRCm39) |
V226I |
probably benign |
Het |
Or6b1 |
A |
G |
6: 42,815,654 (GRCm39) |
T280A |
possibly damaging |
Het |
Oxnad1 |
C |
G |
14: 31,813,609 (GRCm39) |
H3Q |
possibly damaging |
Het |
Rab8b |
A |
T |
9: 66,761,948 (GRCm39) |
|
probably null |
Het |
Rfc4 |
T |
C |
16: 22,932,823 (GRCm39) |
*371W |
probably null |
Het |
Safb2 |
A |
G |
17: 56,878,289 (GRCm39) |
S24P |
probably benign |
Het |
Sele |
G |
A |
1: 163,876,984 (GRCm39) |
V87I |
probably benign |
Het |
Slc8b1 |
T |
A |
5: 120,659,191 (GRCm39) |
W212R |
probably damaging |
Het |
Vmn1r88 |
A |
T |
7: 12,911,970 (GRCm39) |
I109F |
probably damaging |
Het |
Zfp758 |
A |
T |
17: 22,594,075 (GRCm39) |
D155V |
possibly 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 |
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 |
|
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 |
|
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'- AAGAGCCAAGCACATGTTAGTT -3'
(R):5'- CTTTTGGGAGAAAGGTTGCAAAG -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTGCAAAGGTAGAGGACAGAGAC -3'
|
Posted On |
2018-05-04 |