Incidental Mutation 'R2039:Rsrc1'
| ID |
225389 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| MMRRC Submission |
040046-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R2039 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
66888723-67265729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 66901951 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 34
(T34A)
|
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000124925
Gene: ENSMUSG00000034544
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000161726
AA Change: T34A
|
| SMART Domains |
Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: T34A
|
| SMART Domains |
Protein: ENSMUSP00000123699
Gene: ENSMUSG00000034544
AA Change: T34A
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
59 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000162693
AA Change: T34A
|
| SMART Domains |
Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
AA Change: T34A
| 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: ENSMUST00000182708
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000162620
|
| Meta Mutation Damage Score |
0.0834 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.8%
- 20x: 93.9%
|
| Validation Efficiency |
96% (45/47) |
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A2m |
C |
A |
6: 121,636,908 (GRCm39) |
T757K |
probably benign |
Het |
| Abca14 |
T |
C |
7: 119,911,487 (GRCm39) |
V1357A |
probably damaging |
Het |
| Abca5 |
A |
G |
11: 110,190,755 (GRCm39) |
F785S |
probably damaging |
Het |
| Bltp1 |
T |
A |
3: 37,058,027 (GRCm39) |
F3206I |
possibly damaging |
Het |
| Bmal1 |
T |
G |
7: 112,884,319 (GRCm39) |
L119R |
probably damaging |
Het |
| Cacna1h |
T |
C |
17: 25,610,819 (GRCm39) |
I554V |
probably benign |
Het |
| Cuzd1 |
A |
T |
7: 130,916,643 (GRCm39) |
|
probably benign |
Het |
| Cuzd1 |
T |
C |
7: 130,911,345 (GRCm39) |
S545G |
probably benign |
Het |
| Edrf1 |
T |
A |
7: 133,255,678 (GRCm39) |
Y574* |
probably null |
Het |
| Eef1d |
T |
C |
15: 75,767,618 (GRCm39) |
D252G |
probably damaging |
Het |
| Efna5 |
T |
G |
17: 63,188,061 (GRCm39) |
D22A |
probably benign |
Het |
| Esyt1 |
C |
T |
10: 128,347,820 (GRCm39) |
V957I |
probably benign |
Het |
| Etl4 |
T |
C |
2: 20,790,039 (GRCm39) |
S881P |
probably damaging |
Het |
| Exoc3 |
A |
G |
13: 74,341,096 (GRCm39) |
I236T |
probably benign |
Het |
| Far2 |
T |
C |
6: 148,067,075 (GRCm39) |
L320S |
probably benign |
Het |
| Fsd1l |
T |
A |
4: 53,679,972 (GRCm39) |
D223E |
probably benign |
Het |
| Fut1 |
C |
T |
7: 45,268,415 (GRCm39) |
A123V |
possibly damaging |
Het |
| Gap43 |
A |
T |
16: 42,112,715 (GRCm39) |
D15E |
possibly damaging |
Het |
| Gm12789 |
T |
C |
4: 101,846,183 (GRCm39) |
|
probably benign |
Het |
| Gm5114 |
T |
A |
7: 39,058,612 (GRCm39) |
T336S |
probably damaging |
Het |
| Hhla1 |
G |
A |
15: 65,808,226 (GRCm39) |
T273I |
possibly damaging |
Het |
| Hira |
A |
G |
16: 18,770,451 (GRCm39) |
H812R |
probably benign |
Het |
| Hsp90aa1 |
T |
C |
12: 110,660,216 (GRCm39) |
N360S |
probably damaging |
Het |
| Kmt2c |
A |
G |
5: 25,534,038 (GRCm39) |
L1463S |
possibly damaging |
Het |
| Lman2l |
A |
G |
1: 36,467,535 (GRCm39) |
F171S |
probably damaging |
Het |
| Lrfn5 |
T |
C |
12: 61,887,109 (GRCm39) |
L299S |
possibly damaging |
Het |
| Msr1 |
A |
T |
8: 40,042,418 (GRCm39) |
W386R |
probably damaging |
Het |
| Myo1e |
T |
C |
9: 70,227,415 (GRCm39) |
V162A |
possibly damaging |
Het |
| Npy6r |
A |
G |
18: 44,409,070 (GRCm39) |
T164A |
probably benign |
Het |
| Or52e4 |
T |
C |
7: 104,705,597 (GRCm39) |
L48P |
possibly damaging |
Het |
| Rbak |
C |
A |
5: 143,158,930 (GRCm39) |
V708L |
probably benign |
Het |
| Rev3l |
A |
G |
10: 39,700,440 (GRCm39) |
I1646V |
probably damaging |
Het |
| Septin9 |
G |
A |
11: 117,242,443 (GRCm39) |
V53I |
probably damaging |
Het |
| Snrnp200 |
G |
A |
2: 127,076,904 (GRCm39) |
A1646T |
probably benign |
Het |
| Spata31h1 |
A |
G |
10: 82,120,510 (GRCm39) |
S4167P |
probably damaging |
Het |
| Sqor |
G |
A |
2: 122,634,324 (GRCm39) |
|
probably null |
Het |
| St7 |
T |
C |
6: 17,886,111 (GRCm39) |
Y358H |
probably damaging |
Het |
| Tafa1 |
C |
A |
6: 96,631,725 (GRCm39) |
|
probably null |
Het |
| Tas2r126 |
T |
A |
6: 42,411,557 (GRCm39) |
M30K |
probably benign |
Het |
| Thsd7a |
G |
A |
6: 12,408,922 (GRCm39) |
T700I |
possibly damaging |
Het |
| Ttn |
T |
G |
2: 76,698,810 (GRCm39) |
|
probably benign |
Het |
| Ugt1a10 |
T |
G |
1: 87,983,703 (GRCm39) |
I167S |
probably benign |
Het |
| Uhmk1 |
T |
C |
1: 170,039,836 (GRCm39) |
D88G |
probably damaging |
Het |
| Washc2 |
T |
A |
6: 116,201,400 (GRCm39) |
F332Y |
probably damaging |
Het |
| Wdr48 |
T |
A |
9: 119,738,453 (GRCm39) |
W38R |
probably damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,242,388 (GRCm39) |
D622G |
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 |
|
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 |
|
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'- AGAGCCAAGCACATGTTAGTTTA -3'
(R):5'- GCTTTTGGGAGAAAGGTTGCAA -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TAGGGTGCATGACATGAAATTCAC -3'
|
| Posted On |
2014-08-25 |
Incidental Mutation