Incidental Mutation 'R6916:Rsrc1'
ID |
539330 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsrc1
|
Ensembl Gene |
ENSMUSG00000034544 |
Gene Name |
arginine/serine-rich coiled-coil 1 |
Synonyms |
SRrp53, 1200013F24Rik |
MMRRC Submission |
045037-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R6916 (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: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 98.0%
|
Validation Efficiency |
98% (59/60) |
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: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2700049A03Rik |
T |
A |
12: 71,211,318 (GRCm39) |
I684K |
possibly damaging |
Het |
Abcg3 |
T |
A |
5: 105,122,601 (GRCm39) |
R97S |
probably benign |
Het |
Acin1 |
A |
T |
14: 54,902,873 (GRCm39) |
F160L |
probably benign |
Het |
Aoc1l2 |
T |
A |
6: 48,907,987 (GRCm39) |
I329N |
probably benign |
Het |
Asb10 |
T |
C |
5: 24,742,854 (GRCm39) |
D293G |
probably damaging |
Het |
Atp6v1c1 |
T |
C |
15: 38,677,825 (GRCm39) |
S117P |
probably benign |
Het |
Bahcc1 |
T |
A |
11: 120,163,835 (GRCm39) |
V711E |
probably damaging |
Het |
Baz2b |
A |
T |
2: 59,799,120 (GRCm39) |
S335T |
probably benign |
Het |
Bdkrb2 |
C |
T |
12: 105,558,038 (GRCm39) |
A93V |
probably damaging |
Het |
Cacna1d |
A |
T |
14: 29,817,321 (GRCm39) |
V1247D |
probably damaging |
Het |
Cenpb |
A |
C |
2: 131,021,544 (GRCm39) |
F85V |
probably benign |
Het |
Cep112 |
C |
A |
11: 108,750,202 (GRCm39) |
Q142K |
probably damaging |
Het |
Ciita |
T |
A |
16: 10,327,071 (GRCm39) |
|
probably null |
Het |
Cnr1 |
A |
G |
4: 33,943,897 (GRCm39) |
D95G |
probably benign |
Het |
Ctnnd1 |
A |
T |
2: 84,439,990 (GRCm39) |
D767E |
probably benign |
Het |
Ddx20 |
T |
C |
3: 105,587,929 (GRCm39) |
N384D |
probably damaging |
Het |
Dnaaf3 |
T |
A |
7: 4,530,532 (GRCm39) |
D191V |
probably damaging |
Het |
Efna1 |
T |
C |
3: 89,183,695 (GRCm39) |
N44D |
possibly damaging |
Het |
Errfi1 |
A |
T |
4: 150,951,930 (GRCm39) |
K453* |
probably null |
Het |
Fam149a |
C |
A |
8: 45,803,443 (GRCm39) |
K349N |
probably damaging |
Het |
Fbxl20 |
T |
A |
11: 98,004,079 (GRCm39) |
I70L |
possibly damaging |
Het |
Flnb |
C |
T |
14: 7,907,171 (GRCm38) |
T1248I |
probably damaging |
Het |
Frem2 |
T |
C |
3: 53,455,109 (GRCm39) |
R2156G |
probably damaging |
Het |
Ftl1 |
T |
C |
7: 45,108,964 (GRCm39) |
Y31C |
probably damaging |
Het |
Gm5862 |
G |
T |
5: 26,224,346 (GRCm39) |
H208N |
probably benign |
Het |
Hc |
A |
T |
2: 34,900,044 (GRCm39) |
Y1096* |
probably null |
Het |
Hps1 |
ATCCTCCTCCTCCTCCTCCTCCTC |
ATCCTCCTCCTCCTCCTCCTC |
19: 42,755,164 (GRCm39) |
|
|
Het |
Ints3 |
T |
C |
3: 90,313,641 (GRCm39) |
D329G |
probably damaging |
Het |
Irak3 |
A |
T |
10: 120,037,270 (GRCm39) |
L32Q |
probably damaging |
Het |
Kifbp |
T |
C |
10: 62,401,843 (GRCm39) |
T20A |
probably benign |
Het |
Klrb1f |
A |
T |
6: 129,030,774 (GRCm39) |
D95V |
probably benign |
Het |
Krt79 |
C |
T |
15: 101,844,605 (GRCm39) |
D260N |
probably benign |
Het |
Lrp11 |
C |
A |
10: 7,484,478 (GRCm39) |
|
probably null |
Het |
Lrrc10 |
C |
A |
10: 116,881,454 (GRCm39) |
R43S |
possibly damaging |
Het |
Muc5b |
A |
T |
7: 141,418,454 (GRCm39) |
Y3800F |
possibly damaging |
Het |
Myh14 |
T |
C |
7: 44,278,737 (GRCm39) |
K1003E |
probably damaging |
Het |
Nbeal2 |
A |
G |
9: 110,455,176 (GRCm39) |
I2567T |
probably damaging |
Het |
Necab2 |
G |
T |
8: 120,194,355 (GRCm39) |
R277L |
probably damaging |
Het |
Nell1 |
T |
C |
7: 50,350,927 (GRCm39) |
Y525H |
probably benign |
Het |
Olfm4 |
T |
A |
14: 80,251,638 (GRCm39) |
M186K |
probably damaging |
Het |
Or10d1c |
T |
C |
9: 38,894,200 (GRCm39) |
I47V |
probably benign |
Het |
Or1e29 |
T |
A |
11: 73,667,895 (GRCm39) |
Q86L |
probably benign |
Het |
Or2h2b-ps1 |
T |
C |
17: 37,480,864 (GRCm39) |
K225R |
probably benign |
Het |
Pcdhb11 |
A |
T |
18: 37,555,434 (GRCm39) |
S255C |
possibly damaging |
Het |
Rrbp1 |
A |
T |
2: 143,816,518 (GRCm39) |
C704S |
probably benign |
Het |
Sh2d3c |
C |
T |
2: 32,642,665 (GRCm39) |
R552* |
probably null |
Het |
Sh3d19 |
A |
G |
3: 85,992,218 (GRCm39) |
E82G |
probably benign |
Het |
Son |
T |
A |
16: 91,451,673 (GRCm39) |
L140Q |
probably damaging |
Het |
Svil |
G |
A |
18: 5,114,682 (GRCm39) |
|
probably benign |
Het |
Syne1 |
T |
C |
10: 5,177,912 (GRCm39) |
K4854R |
probably benign |
Het |
Tlcd4 |
T |
C |
3: 121,000,805 (GRCm39) |
D276G |
possibly damaging |
Het |
Tmem202 |
C |
A |
9: 59,432,757 (GRCm39) |
|
probably benign |
Het |
Trak2 |
T |
C |
1: 58,949,184 (GRCm39) |
T539A |
probably benign |
Het |
Trdn |
T |
C |
10: 33,033,014 (GRCm39) |
S80P |
probably damaging |
Het |
Ugt2b37 |
T |
A |
5: 87,402,459 (GRCm39) |
R57S |
probably benign |
Het |
Usp34 |
G |
A |
11: 23,408,023 (GRCm39) |
R2616Q |
probably damaging |
Het |
Usp48 |
T |
C |
4: 137,365,544 (GRCm39) |
Y113H |
probably damaging |
Het |
Vtcn1 |
G |
T |
3: 100,795,479 (GRCm39) |
|
probably null |
Het |
Wdr19 |
G |
A |
5: 65,382,677 (GRCm39) |
R467Q |
possibly damaging |
Het |
Wdr72 |
A |
G |
9: 74,062,321 (GRCm39) |
Y489C |
probably benign |
Het |
Wipf1 |
C |
A |
2: 73,267,748 (GRCm39) |
G217W |
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 |
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 |
|
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 |
|
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'- AAGAGCCAAGCACATGTTAGT -3'
(R):5'- CTTTTGGGAGAAAGGTTGCAAAG -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTGCAAAGGTAGAGGACAGAGAC -3'
|
Posted On |
2018-11-06 |