Incidental Mutation 'R9683:Rsrc1'
ID |
728673 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rsrc1
|
Ensembl Gene |
ENSMUSG00000034544 |
Gene Name |
arginine/serine-rich coiled-coil 1 |
Synonyms |
SRrp53, 1200013F24Rik |
MMRRC Submission |
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.113)
|
Stock # |
R9683 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
3 |
Chromosomal Location |
66888723-67265729 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 67257328 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Threonine
at position 247
(S247T)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000066797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046542]
[ENSMUST00000065047]
[ENSMUST00000065074]
[ENSMUST00000161726]
[ENSMUST00000162036]
[ENSMUST00000162693]
|
AlphaFold |
Q9DBU6 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000046542
AA Change: S205T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000047077 Gene: ENSMUSG00000034544 AA Change: S205T
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 |
probably damaging
Transcript: ENSMUST00000065047
AA Change: S189T
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
SMART Domains |
Protein: ENSMUSP00000066967 Gene: ENSMUSG00000034544 AA Change: S189T
Domain | Start | End | E-Value | Type |
low complexity region
|
3 |
109 |
N/A |
INTRINSIC |
coiled coil region
|
122 |
175 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000065074
AA Change: S247T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000066797 Gene: ENSMUSG00000034544 AA Change: S247T
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 |
probably damaging
Transcript: ENSMUST00000161726
AA Change: S247T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000124347 Gene: ENSMUSG00000034544 AA Change: S247T
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 |
probably damaging
Transcript: ENSMUST00000162036
AA Change: S247T
PolyPhen 2
Score 0.973 (Sensitivity: 0.76; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125468 Gene: ENSMUSG00000034544 AA Change: S247T
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 |
probably damaging
Transcript: ENSMUST00000162693
AA Change: S245T
PolyPhen 2
Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
|
SMART Domains |
Protein: ENSMUSP00000125547 Gene: ENSMUSG00000034544 AA Change: S245T
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 |
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
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: 60 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700006A11Rik |
C |
T |
3: 124,200,095 (GRCm39) |
G499D |
probably benign |
Het |
Acr |
T |
A |
15: 89,457,440 (GRCm39) |
Y229* |
probably null |
Het |
Adam6b |
G |
T |
12: 113,454,176 (GRCm39) |
C331F |
probably benign |
Het |
Ahnak |
T |
C |
19: 8,984,719 (GRCm39) |
V2001A |
possibly damaging |
Het |
Ankrd11 |
C |
T |
8: 123,617,682 (GRCm39) |
A2057T |
probably benign |
Het |
Anln |
A |
T |
9: 22,283,536 (GRCm39) |
C432* |
probably null |
Het |
Aox4 |
T |
C |
1: 58,278,462 (GRCm39) |
|
probably null |
Het |
Astn1 |
A |
G |
1: 158,491,619 (GRCm39) |
I1007V |
possibly damaging |
Het |
Bicral |
T |
C |
17: 47,122,944 (GRCm39) |
D649G |
possibly damaging |
Het |
C1qbp |
G |
A |
11: 70,873,749 (GRCm39) |
R10C |
probably damaging |
Het |
Cass4 |
C |
T |
2: 172,268,656 (GRCm39) |
P246L |
probably damaging |
Het |
Celsr3 |
T |
A |
9: 108,704,522 (GRCm39) |
V335E |
probably damaging |
Het |
Cfap52 |
T |
A |
11: 67,822,639 (GRCm39) |
T411S |
probably benign |
Het |
Cnot6 |
A |
T |
11: 49,580,164 (GRCm39) |
L43I |
possibly damaging |
Het |
Col9a3 |
G |
A |
2: 180,248,322 (GRCm39) |
|
probably null |
Het |
Dnah14 |
A |
G |
1: 181,426,509 (GRCm39) |
R210G |
probably benign |
Het |
Fat4 |
A |
G |
3: 38,943,332 (GRCm39) |
S742G |
possibly damaging |
Het |
Fbn2 |
C |
T |
18: 58,186,099 (GRCm39) |
V1750M |
probably benign |
Het |
Glrx2 |
A |
G |
1: 143,622,292 (GRCm39) |
D96G |
probably damaging |
Het |
Gm8369 |
T |
C |
19: 11,489,097 (GRCm39) |
L128P |
probably damaging |
Het |
Gpr155 |
A |
G |
2: 73,192,780 (GRCm39) |
I585T |
probably benign |
Het |
Heatr1 |
T |
C |
13: 12,449,140 (GRCm39) |
S1907P |
probably damaging |
Het |
Hscb |
T |
C |
5: 110,983,881 (GRCm39) |
T129A |
possibly damaging |
Het |
Itgb5 |
T |
A |
16: 33,740,335 (GRCm39) |
Y482N |
probably damaging |
Het |
Kmt5b |
T |
A |
19: 3,865,587 (GRCm39) |
*884R |
probably null |
Het |
L3mbtl1 |
A |
T |
2: 162,812,228 (GRCm39) |
T758S |
possibly damaging |
Het |
Mindy1 |
A |
T |
3: 95,202,176 (GRCm39) |
H351L |
probably benign |
Het |
Mmel1 |
A |
T |
4: 154,977,285 (GRCm39) |
I552F |
probably damaging |
Het |
Mos |
T |
C |
4: 3,871,186 (GRCm39) |
D210G |
probably benign |
Het |
Npl |
A |
C |
1: 153,421,030 (GRCm39) |
I16S |
possibly damaging |
Het |
Nutm2 |
C |
A |
13: 50,629,017 (GRCm39) |
P694T |
possibly damaging |
Het |
Or1e1c |
G |
A |
11: 73,265,811 (GRCm39) |
V82I |
probably damaging |
Het |
Or52ae7 |
A |
G |
7: 103,119,157 (GRCm39) |
|
probably benign |
Het |
Plekhg4 |
T |
C |
8: 106,102,923 (GRCm39) |
F261L |
probably benign |
Het |
Ppfia3 |
T |
A |
7: 45,005,999 (GRCm39) |
N331I |
probably benign |
Het |
Ppp1r12a |
T |
A |
10: 108,096,747 (GRCm39) |
S712R |
possibly damaging |
Het |
Psg20 |
T |
A |
7: 18,416,508 (GRCm39) |
K203* |
probably null |
Het |
Recql |
C |
T |
6: 142,305,646 (GRCm39) |
R234Q |
|
Het |
Rerg |
A |
G |
6: 137,033,252 (GRCm39) |
F160S |
probably damaging |
Het |
Rp1l1 |
A |
G |
14: 64,269,126 (GRCm39) |
K1571E |
probably damaging |
Het |
Sacs |
T |
A |
14: 61,450,881 (GRCm39) |
I4309N |
possibly damaging |
Het |
Setd7 |
A |
T |
3: 51,450,111 (GRCm39) |
I105N |
possibly damaging |
Het |
Sgk1 |
AAGA |
AAGAGA |
10: 21,868,290 (GRCm39) |
|
probably null |
Het |
Siglec1 |
T |
A |
2: 130,921,236 (GRCm39) |
H645L |
probably damaging |
Het |
Slain1 |
A |
T |
14: 103,925,621 (GRCm39) |
D323V |
probably damaging |
Het |
Slc25a10 |
A |
G |
11: 120,386,312 (GRCm39) |
N139D |
probably damaging |
Het |
Slc9a9 |
T |
G |
9: 94,552,235 (GRCm39) |
F41V |
probably damaging |
Het |
Spag9 |
A |
C |
11: 93,988,568 (GRCm39) |
E879D |
probably damaging |
Het |
Tdrd7 |
T |
A |
4: 46,025,946 (GRCm39) |
L922Q |
probably damaging |
Het |
Tiprl |
A |
G |
1: 165,050,147 (GRCm39) |
F156S |
probably damaging |
Het |
Tmem185b |
G |
C |
1: 119,454,748 (GRCm39) |
V170L |
probably damaging |
Het |
Top2a |
G |
A |
11: 98,887,683 (GRCm39) |
T1275I |
probably benign |
Het |
Tpp1 |
A |
G |
7: 105,398,104 (GRCm39) |
L353P |
probably damaging |
Het |
Twnk |
T |
A |
19: 44,998,622 (GRCm39) |
H513Q |
probably damaging |
Het |
Ubr5 |
C |
T |
15: 37,978,271 (GRCm39) |
V2467I |
|
Het |
Vmn2r16 |
T |
A |
5: 109,511,677 (GRCm39) |
I628N |
probably damaging |
Het |
Zan |
T |
C |
5: 137,462,776 (GRCm39) |
E801G |
unknown |
Het |
Zfp810 |
T |
C |
9: 22,189,799 (GRCm39) |
R370G |
possibly damaging |
Het |
Zfp955a |
A |
G |
17: 33,461,587 (GRCm39) |
S182P |
probably benign |
Het |
Znrf3 |
T |
C |
11: 5,394,465 (GRCm39) |
T72A |
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 |
|
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 |
Z1176:Rsrc1
|
UTSW |
3 |
67,257,315 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- AGCTCATGTGGAACAGTGCC -3'
(R):5'- GGACATTACAGAATCATATGTGGTG -3'
Sequencing Primer
(F):5'- GCTCATGTGGAACAGTGCCTATTAC -3'
(R):5'- GGTACCAGAACCATGTTTACAATAC -3'
|
Posted On |
2022-10-06 |