Incidental Mutation 'R6899:Rsrc1'
| ID |
541003 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| MMRRC Submission |
044993-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.104)
|
| Stock # |
R6899 (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: 99.0%
- 20x: 95.9%
|
| Validation Efficiency |
98% (56/57) |
| 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: 56 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca16 |
A |
G |
7: 120,126,264 (GRCm39) |
Y1140C |
probably damaging |
Het |
| Actl9 |
G |
A |
17: 33,652,533 (GRCm39) |
G198S |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 69,130,500 (GRCm39) |
M129K |
probably damaging |
Het |
| Apmap |
T |
A |
2: 150,436,228 (GRCm39) |
I107F |
probably benign |
Het |
| Arrdc3 |
T |
C |
13: 81,037,330 (GRCm39) |
I162T |
probably damaging |
Het |
| Asprv1 |
T |
C |
6: 86,605,742 (GRCm39) |
L196P |
probably damaging |
Het |
| Atpsckmt |
A |
G |
15: 31,617,257 (GRCm39) |
S163G |
probably benign |
Het |
| Bag2 |
A |
G |
1: 33,785,912 (GRCm39) |
S137P |
possibly damaging |
Het |
| Borcs5 |
T |
A |
6: 134,687,173 (GRCm39) |
M177K |
probably benign |
Het |
| C8b |
A |
T |
4: 104,644,071 (GRCm39) |
K246M |
probably benign |
Het |
| Cdo1 |
A |
G |
18: 46,856,407 (GRCm39) |
C76R |
probably damaging |
Het |
| Ces2b |
T |
A |
8: 105,563,398 (GRCm39) |
|
probably null |
Het |
| Csf2rb |
G |
A |
15: 78,224,902 (GRCm39) |
S194N |
probably benign |
Het |
| Dap3 |
A |
G |
3: 88,840,907 (GRCm39) |
F77L |
probably benign |
Het |
| Dars1 |
A |
G |
1: 128,341,483 (GRCm39) |
V44A |
possibly damaging |
Het |
| Dhtkd1 |
T |
A |
2: 5,922,776 (GRCm39) |
D461V |
possibly damaging |
Het |
| Ero1a |
A |
C |
14: 45,530,396 (GRCm39) |
H345Q |
probably benign |
Het |
| Fzd8 |
T |
A |
18: 9,214,729 (GRCm39) |
S604T |
probably damaging |
Het |
| Gpatch2l |
G |
A |
12: 86,290,958 (GRCm39) |
R47H |
probably damaging |
Het |
| Gramd1c |
T |
A |
16: 43,860,505 (GRCm39) |
Y64F |
probably benign |
Het |
| Heatr5b |
T |
A |
17: 79,110,938 (GRCm39) |
Y970F |
probably benign |
Het |
| Hoxc10 |
A |
G |
15: 102,875,942 (GRCm39) |
E217G |
possibly damaging |
Het |
| Hsd17b14 |
A |
T |
7: 45,212,352 (GRCm39) |
H128L |
possibly damaging |
Het |
| Idh2 |
TCCCAGG |
T |
7: 79,748,079 (GRCm39) |
|
probably benign |
Het |
| Ifna9 |
A |
G |
4: 88,510,300 (GRCm39) |
F108S |
probably damaging |
Het |
| Ikbke |
A |
G |
1: 131,203,499 (GRCm39) |
V58A |
probably damaging |
Het |
| Inpp5e |
G |
A |
2: 26,290,060 (GRCm39) |
R462C |
possibly damaging |
Het |
| Junb |
A |
G |
8: 85,704,353 (GRCm39) |
F236L |
probably benign |
Het |
| Klhl36 |
T |
C |
8: 120,596,881 (GRCm39) |
V194A |
probably benign |
Het |
| Lsg1 |
A |
T |
16: 30,400,906 (GRCm39) |
D134E |
probably benign |
Het |
| Megf8 |
G |
T |
7: 25,060,138 (GRCm39) |
C2343F |
probably damaging |
Het |
| Mtres1 |
T |
C |
10: 43,408,780 (GRCm39) |
E121G |
possibly damaging |
Het |
| Myom3 |
G |
A |
4: 135,530,603 (GRCm39) |
G1172R |
probably damaging |
Het |
| Nasp |
A |
T |
4: 116,461,530 (GRCm39) |
V548E |
probably damaging |
Het |
| Nubpl |
T |
A |
12: 52,357,536 (GRCm39) |
S317T |
probably benign |
Het |
| Nup210l |
A |
G |
3: 90,075,204 (GRCm39) |
D838G |
possibly damaging |
Het |
| Oxsr1 |
C |
T |
9: 119,076,188 (GRCm39) |
A373T |
probably benign |
Het |
| Psat1 |
C |
T |
19: 15,895,569 (GRCm39) |
|
probably null |
Het |
| Slain1 |
C |
T |
14: 103,888,215 (GRCm39) |
P45L |
possibly damaging |
Het |
| Slc16a8 |
A |
G |
15: 79,137,949 (GRCm39) |
V20A |
possibly damaging |
Het |
| Slc22a13 |
A |
T |
9: 119,025,473 (GRCm39) |
M145K |
probably damaging |
Het |
| Slc22a4 |
G |
A |
11: 53,879,739 (GRCm39) |
T440I |
probably damaging |
Het |
| Slc39a12 |
C |
T |
2: 14,394,352 (GRCm39) |
P74L |
probably damaging |
Het |
| Sod3 |
A |
G |
5: 52,526,050 (GRCm39) |
T250A |
unknown |
Het |
| Syne2 |
A |
G |
12: 76,142,503 (GRCm39) |
|
probably null |
Het |
| Tctn1 |
A |
G |
5: 122,387,019 (GRCm39) |
Y299H |
probably damaging |
Het |
| Tfcp2l1 |
A |
G |
1: 118,603,305 (GRCm39) |
M448V |
probably benign |
Het |
| Tfpi |
C |
T |
2: 84,275,153 (GRCm39) |
G152S |
probably damaging |
Het |
| Thap4 |
A |
G |
1: 93,678,691 (GRCm39) |
S32P |
probably damaging |
Het |
| Tmem132c |
T |
A |
5: 127,628,744 (GRCm39) |
W549R |
probably damaging |
Het |
| Vmn2r29 |
T |
C |
7: 7,244,641 (GRCm39) |
E411G |
probably damaging |
Het |
| Washc4 |
C |
A |
10: 83,411,919 (GRCm39) |
D683E |
probably benign |
Het |
| Wdr3 |
A |
T |
3: 100,057,217 (GRCm39) |
V462D |
possibly damaging |
Het |
| Wdr5b |
T |
C |
16: 35,862,150 (GRCm39) |
S90P |
probably damaging |
Het |
| Zfp407 |
A |
G |
18: 84,579,559 (GRCm39) |
L518P |
possibly damaging |
Het |
| Zfp53 |
A |
G |
17: 21,728,707 (GRCm39) |
I247V |
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 |
|
|
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'- GAGCCAAGCACATGTTAGTTT -3'
(R):5'- TGCTTTTGGGAGAAAGGTTGCA -3'
Sequencing Primer
(F):5'- GTTGGATCCAGGAGTTTACAGTCAAC -3'
(R):5'- TTTTGGGAGAAAGGTTGCAAAGGTAG -3'
|
| Posted On |
2018-11-28 |
Incidental Mutation