Incidental Mutation 'R7010:Rsrc1'
| ID |
544955 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R7010 (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: 99.7%
- 20x: 98.8%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| AL592187.3 |
A |
T |
15: 77,486,797 (GRCm39) |
Y58F |
probably benign |
Het |
| Ano10 |
T |
C |
9: 122,082,190 (GRCm39) |
T494A |
probably damaging |
Het |
| Asah2 |
A |
T |
19: 32,031,954 (GRCm39) |
F72I |
probably benign |
Het |
| Atat1 |
T |
C |
17: 36,219,522 (GRCm39) |
D114G |
probably damaging |
Het |
| Atp6v1e2 |
C |
T |
17: 87,251,773 (GRCm39) |
M208I |
probably benign |
Het |
| Bicd1 |
A |
G |
6: 149,396,113 (GRCm39) |
Y161C |
probably damaging |
Het |
| Camk2g |
T |
C |
14: 20,791,512 (GRCm39) |
S410G |
probably benign |
Het |
| Car2 |
C |
T |
3: 14,965,113 (GRCm39) |
P249L |
possibly damaging |
Het |
| Cdh23 |
T |
G |
10: 60,366,770 (GRCm39) |
I237L |
probably benign |
Het |
| Dlat |
T |
A |
9: 50,569,274 (GRCm39) |
K176N |
probably damaging |
Het |
| Dnajc12 |
T |
A |
10: 63,233,059 (GRCm39) |
C67S |
probably benign |
Het |
| Fat1 |
G |
T |
8: 45,406,386 (GRCm39) |
E1046* |
probably null |
Het |
| Gmip |
G |
A |
8: 70,264,050 (GRCm39) |
A137T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Grk6 |
A |
G |
13: 55,598,113 (GRCm39) |
I62V |
possibly damaging |
Het |
| Hook1 |
G |
T |
4: 95,903,048 (GRCm39) |
L512F |
probably damaging |
Het |
| Ighe |
T |
C |
12: 113,236,761 (GRCm39) |
T36A |
|
Het |
| Il17rc |
A |
G |
6: 113,456,249 (GRCm39) |
N338S |
possibly damaging |
Het |
| Itgb6 |
T |
C |
2: 60,480,322 (GRCm39) |
Y338C |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,707 (GRCm39) |
Y137C |
probably damaging |
Het |
| L3mbtl3 |
T |
A |
10: 26,158,759 (GRCm39) |
|
probably null |
Het |
| Lcn3 |
T |
C |
2: 25,656,068 (GRCm39) |
F41S |
probably damaging |
Het |
| Map3k8 |
T |
C |
18: 4,334,060 (GRCm39) |
H344R |
probably damaging |
Het |
| Marf1 |
A |
T |
16: 13,954,865 (GRCm39) |
I884N |
probably damaging |
Het |
| Nalcn |
G |
A |
14: 123,530,877 (GRCm39) |
T1387I |
probably damaging |
Het |
| Nrros |
T |
C |
16: 31,962,398 (GRCm39) |
T540A |
probably damaging |
Het |
| Or5p63 |
A |
T |
7: 107,811,349 (GRCm39) |
I129N |
probably damaging |
Het |
| Pank2 |
T |
C |
2: 131,122,293 (GRCm39) |
Y273H |
probably benign |
Het |
| Pgrmc2 |
A |
G |
3: 41,037,068 (GRCm39) |
V121A |
probably damaging |
Het |
| Phldb2 |
C |
T |
16: 45,571,868 (GRCm39) |
V1175M |
probably damaging |
Het |
| Prss3b |
A |
C |
6: 41,009,247 (GRCm39) |
S196A |
probably benign |
Het |
| Ranbp2 |
A |
G |
10: 58,290,393 (GRCm39) |
|
probably null |
Het |
| Syt7 |
A |
G |
19: 10,395,354 (GRCm39) |
T55A |
probably benign |
Het |
| Tfcp2l1 |
T |
C |
1: 118,581,457 (GRCm39) |
S137P |
probably damaging |
Het |
| Tom1 |
T |
A |
8: 75,778,603 (GRCm39) |
V140D |
probably damaging |
Het |
| Ttc23l |
T |
G |
15: 10,515,224 (GRCm39) |
I385L |
probably damaging |
Het |
| Vmn1r122 |
A |
G |
7: 20,867,896 (GRCm39) |
V53A |
probably damaging |
Het |
| Vmn2r1 |
C |
T |
3: 64,012,146 (GRCm39) |
T669I |
probably benign |
Het |
| Vmn2r86 |
A |
G |
10: 130,291,726 (GRCm39) |
L13P |
probably benign |
Het |
| Zfp958 |
T |
C |
8: 4,678,377 (GRCm39) |
I134T |
probably benign |
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 |
|
|
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'- AGAGCCAAGCACATGTTAGTT -3'
(R):5'- GCTTTTGGGAGAAAGGTTGC -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- CTTTTGGGAGAAAGGTTGCAAAGG -3'
|
| Posted On |
2019-05-13 |
Incidental Mutation