Incidental Mutation 'R6153:Rsrc1'
| ID |
489370 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc1
|
| Ensembl Gene |
ENSMUSG00000034544 |
| Gene Name |
arginine/serine-rich coiled-coil 1 |
| Synonyms |
SRrp53, 1200013F24Rik |
| MMRRC Submission |
044300-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.113)
|
| Stock # |
R6153 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
3 |
| Chromosomal Location |
66888723-67265729 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 67262895 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Threonine
at position 283
(I283T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000125468
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000046542]
[ENSMUST00000065047]
[ENSMUST00000065074]
[ENSMUST00000161726]
[ENSMUST00000162036]
[ENSMUST00000162693]
|
| AlphaFold |
Q9DBU6 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000046542
AA Change: I241T
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000047077
Gene: ENSMUSG00000034544
AA Change: I241T
| 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 benign
Transcript: ENSMUST00000065047
|
| SMART Domains |
Protein: ENSMUSP00000066967
Gene: ENSMUSG00000034544
| 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 benign
Transcript: ENSMUST00000065074
AA Change: I283T
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000066797
Gene: ENSMUSG00000034544
AA Change: I283T
| 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 benign
Transcript: ENSMUST00000161726
AA Change: I283T
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000124347
Gene: ENSMUSG00000034544
AA Change: I283T
| 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 benign
Transcript: ENSMUST00000162036
AA Change: I283T
PolyPhen 2
Score 0.333 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000125468
Gene: ENSMUSG00000034544
AA Change: I283T
| 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 benign
Transcript: ENSMUST00000162693
|
| SMART Domains |
Protein: ENSMUSP00000125547
Gene: ENSMUSG00000034544
| 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 |
|
| Meta Mutation Damage Score |
0.0808 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.3%
|
| Validation Efficiency |
99% (66/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca13 |
G |
T |
11: 9,251,259 (GRCm39) |
|
probably null |
Het |
| Ache |
T |
C |
5: 137,290,117 (GRCm39) |
I394T |
probably damaging |
Het |
| Acsm1 |
G |
A |
7: 119,232,289 (GRCm39) |
G62D |
probably damaging |
Het |
| Actrt3 |
T |
A |
3: 30,653,899 (GRCm39) |
I34F |
probably damaging |
Het |
| Adgrf5 |
T |
C |
17: 43,761,974 (GRCm39) |
I1223T |
possibly damaging |
Het |
| Adora2a |
T |
C |
10: 75,161,981 (GRCm39) |
F40S |
possibly damaging |
Het |
| Ano8 |
T |
C |
8: 71,933,441 (GRCm39) |
|
probably benign |
Het |
| Arid1b |
T |
A |
17: 5,293,107 (GRCm39) |
L675Q |
probably damaging |
Het |
| Atg2b |
T |
C |
12: 105,589,741 (GRCm39) |
I1837V |
possibly damaging |
Het |
| Atp10b |
A |
G |
11: 43,145,109 (GRCm39) |
Y1284C |
probably damaging |
Het |
| B3gnt7 |
G |
T |
1: 86,233,237 (GRCm39) |
G44V |
probably damaging |
Het |
| Chrna1 |
G |
T |
2: 73,403,653 (GRCm39) |
H99N |
probably benign |
Het |
| Cnksr1 |
T |
C |
4: 133,961,204 (GRCm39) |
H220R |
probably damaging |
Het |
| Cpsf2 |
T |
A |
12: 101,965,619 (GRCm39) |
|
probably null |
Het |
| Daglb |
T |
C |
5: 143,489,096 (GRCm39) |
L651P |
probably benign |
Het |
| Ddx60 |
A |
G |
8: 62,398,974 (GRCm39) |
D231G |
possibly damaging |
Het |
| Ehd4 |
A |
C |
2: 119,932,904 (GRCm39) |
F174C |
probably damaging |
Het |
| Emsy |
G |
T |
7: 98,260,060 (GRCm39) |
P9T |
probably damaging |
Het |
| Fnbp1l |
T |
C |
3: 122,352,805 (GRCm39) |
E217G |
probably benign |
Het |
| Gm11596 |
A |
T |
11: 99,683,524 (GRCm39) |
C199S |
unknown |
Het |
| Gmps |
T |
G |
3: 63,908,964 (GRCm39) |
C489G |
probably benign |
Het |
| Gpsm1 |
T |
C |
2: 26,215,425 (GRCm39) |
Y296H |
probably benign |
Het |
| Heatr5b |
T |
C |
17: 79,138,870 (GRCm39) |
T91A |
possibly damaging |
Het |
| Hs3st3b1 |
A |
T |
11: 63,780,324 (GRCm39) |
W268R |
probably damaging |
Het |
| Il27ra |
T |
C |
8: 84,758,773 (GRCm39) |
|
probably null |
Het |
| Itga5 |
T |
A |
15: 103,265,880 (GRCm39) |
I156F |
probably damaging |
Het |
| Kcnmb3 |
T |
A |
3: 32,527,976 (GRCm39) |
D96V |
probably damaging |
Het |
| Khdrbs1 |
T |
A |
4: 129,609,965 (GRCm39) |
N417Y |
probably damaging |
Het |
| Loxhd1 |
A |
G |
18: 77,383,454 (GRCm39) |
N118D |
possibly damaging |
Het |
| Mdm4 |
A |
G |
1: 132,919,845 (GRCm39) |
L341P |
probably damaging |
Het |
| Mecom |
T |
C |
3: 30,047,797 (GRCm39) |
E225G |
possibly damaging |
Het |
| Megf8 |
G |
A |
7: 25,046,796 (GRCm39) |
G1560S |
possibly damaging |
Het |
| Mfsd13a |
A |
T |
19: 46,356,321 (GRCm39) |
D142V |
probably damaging |
Het |
| Muc5b |
A |
T |
7: 141,415,181 (GRCm39) |
Y2709F |
possibly damaging |
Het |
| Nelfa |
A |
T |
5: 34,056,223 (GRCm39) |
I480N |
probably damaging |
Het |
| Or10ak8 |
G |
A |
4: 118,773,944 (GRCm39) |
S240F |
probably damaging |
Het |
| Or8b36 |
ATTGCTGTTT |
ATTGCTGTTTGCTGTTT |
9: 37,937,836 (GRCm39) |
|
probably null |
Het |
| Palld |
G |
T |
8: 62,003,186 (GRCm39) |
N304K |
probably damaging |
Het |
| Pcsk5 |
A |
G |
19: 17,488,856 (GRCm39) |
L988P |
probably damaging |
Het |
| Prmt1 |
A |
T |
7: 44,631,251 (GRCm39) |
F34I |
probably damaging |
Het |
| Pzp |
A |
G |
6: 128,465,979 (GRCm39) |
S1234P |
probably benign |
Het |
| Ralb |
A |
T |
1: 119,405,870 (GRCm39) |
|
probably null |
Het |
| Robo2 |
T |
A |
16: 73,717,617 (GRCm39) |
D141V |
probably damaging |
Het |
| Sec62 |
A |
T |
3: 30,864,631 (GRCm39) |
K165M |
unknown |
Het |
| Sez6 |
A |
G |
11: 77,868,648 (GRCm39) |
D974G |
probably damaging |
Het |
| Shc2 |
T |
A |
10: 79,465,752 (GRCm39) |
I187F |
possibly damaging |
Het |
| Shroom3 |
G |
A |
5: 93,112,267 (GRCm39) |
R1876Q |
probably damaging |
Het |
| Siglecg |
C |
A |
7: 43,061,441 (GRCm39) |
N481K |
possibly damaging |
Het |
| Skil |
T |
A |
3: 31,152,002 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc1a1 |
T |
C |
19: 28,886,935 (GRCm39) |
V432A |
probably damaging |
Het |
| Slit3 |
G |
T |
11: 35,591,310 (GRCm39) |
G1374V |
possibly damaging |
Het |
| Snx14 |
T |
C |
9: 88,273,859 (GRCm39) |
Y644C |
probably damaging |
Het |
| Snx33 |
T |
A |
9: 56,833,983 (GRCm39) |
I29F |
possibly damaging |
Het |
| Sos1 |
T |
A |
17: 80,756,764 (GRCm39) |
I263L |
probably benign |
Het |
| Susd2 |
C |
T |
10: 75,473,853 (GRCm39) |
A581T |
probably damaging |
Het |
| Tbpl2 |
C |
A |
2: 23,966,028 (GRCm39) |
V320F |
probably damaging |
Het |
| Tmem209 |
A |
G |
6: 30,505,794 (GRCm39) |
S171P |
probably benign |
Het |
| Tprkb |
T |
A |
6: 85,893,172 (GRCm39) |
|
probably null |
Het |
| Tspan11 |
G |
A |
6: 127,916,061 (GRCm39) |
S119N |
probably benign |
Het |
| Ulk2 |
A |
T |
11: 61,672,572 (GRCm39) |
V922D |
probably damaging |
Het |
| Zfp267 |
A |
G |
3: 36,219,303 (GRCm39) |
H442R |
possibly damaging |
Het |
| Zfp976 |
A |
C |
7: 42,263,610 (GRCm39) |
Y76D |
probably damaging |
Het |
| Zkscan2 |
G |
A |
7: 123,088,993 (GRCm39) |
T426I |
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 |
|
|
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'- CATTCAGGAGTGTGGAACTTTTGAG -3'
(R):5'- TGTAGCCAAGGGAAGCCATG -3'
Sequencing Primer
(F):5'- AGAGACCAAGCAGTGCTCTCTTTG -3'
(R):5'- AGGGAAGCCATGAACTCTTCTGC -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation