Incidental Mutation 'R6657:Rsrc2'
| ID |
526654 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rsrc2
|
| Ensembl Gene |
ENSMUSG00000029422 |
| Gene Name |
arginine/serine-rich coiled-coil 2 |
| Synonyms |
1500011J06Rik |
| MMRRC Submission |
044778-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
R6657 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
5 |
| Chromosomal Location |
123866489-123887477 bp(-) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
A to G
at 123877630 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138301
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050827]
[ENSMUST00000057795]
[ENSMUST00000111515]
[ENSMUST00000182015]
[ENSMUST00000182093]
[ENSMUST00000182241]
[ENSMUST00000182309]
[ENSMUST00000182489]
[ENSMUST00000182556]
[ENSMUST00000182411]
[ENSMUST00000182955]
[ENSMUST00000183147]
|
| AlphaFold |
A2RTL5 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000050827
AA Change: I117T
|
| SMART Domains |
Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: I117T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
Pfam:SMAP
|
354 |
423 |
6.7e-21 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000057795
AA Change: I117T
|
| SMART Domains |
Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: I117T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
coiled coil region
|
170 |
214 |
N/A |
INTRINSIC |
|
low complexity region
|
236 |
250 |
N/A |
INTRINSIC |
|
Pfam:SMAP
|
295 |
365 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000111515
AA Change: I117T
|
| SMART Domains |
Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: I117T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181980
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182015
|
| SMART Domains |
Protein: ENSMUSP00000138210
Gene: ENSMUSG00000029422
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182093
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182241
|
| SMART Domains |
Protein: ENSMUSP00000138162
Gene: ENSMUSG00000029422
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
69 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182309
AA Change: I175T
|
| SMART Domains |
Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: I175T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
low complexity region
|
108 |
208 |
N/A |
INTRINSIC |
|
low complexity region
|
209 |
226 |
N/A |
INTRINSIC |
|
coiled coil region
|
228 |
272 |
N/A |
INTRINSIC |
|
low complexity region
|
294 |
308 |
N/A |
INTRINSIC |
|
Pfam:SMAP
|
353 |
423 |
4.7e-16 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182489
AA Change: I128T
|
| SMART Domains |
Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: I128T
| Domain | Start | End | E-Value | Type |
|---|
|
internal_repeat_1
|
10 |
46 |
8.8e-5 |
PROSPERO |
|
low complexity region
|
61 |
161 |
N/A |
INTRINSIC |
|
low complexity region
|
162 |
179 |
N/A |
INTRINSIC |
|
coiled coil region
|
181 |
225 |
N/A |
INTRINSIC |
|
low complexity region
|
247 |
261 |
N/A |
INTRINSIC |
|
Pfam:SMAP
|
306 |
376 |
4e-16 |
PFAM |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000182556
AA Change: I117T
|
| SMART Domains |
Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: I117T
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
50 |
150 |
N/A |
INTRINSIC |
|
low complexity region
|
151 |
168 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182411
|
| SMART Domains |
Protein: ENSMUSP00000138439
Gene: ENSMUSG00000029422
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
36 |
54 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182584
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182955
|
| SMART Domains |
Protein: ENSMUSP00000138280
Gene: ENSMUSG00000029422
| Domain | Start | End | E-Value | Type |
|---|
|
coiled coil region
|
1 |
41 |
N/A |
INTRINSIC |
|
low complexity region
|
63 |
77 |
N/A |
INTRINSIC |
|
Pfam:SMAP
|
122 |
192 |
1.8e-16 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000183147
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182612
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000183253
|
| Meta Mutation Damage Score |
0.0726 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.0%
|
| Validation Efficiency |
98% (48/49) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 48 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4933405L10Rik |
T |
G |
8: 106,435,450 (GRCm39) |
L36R |
probably damaging |
Het |
| Akr1b1 |
C |
T |
6: 34,286,939 (GRCm39) |
V206M |
possibly damaging |
Het |
| Akr1b7 |
A |
C |
6: 34,393,135 (GRCm39) |
D106A |
probably damaging |
Het |
| Bhlhe40 |
TG |
TGG |
6: 108,641,818 (GRCm39) |
254 |
probably null |
Het |
| Chst5 |
C |
T |
8: 112,616,906 (GRCm39) |
R238Q |
probably benign |
Het |
| Cpxm2 |
T |
C |
7: 131,650,806 (GRCm39) |
Y618C |
probably damaging |
Het |
| Csnk1d |
T |
C |
11: 120,855,820 (GRCm39) |
E405G |
possibly damaging |
Het |
| Ctsh |
A |
T |
9: 89,942,555 (GRCm39) |
M37L |
probably benign |
Het |
| Eml5 |
T |
G |
12: 98,757,664 (GRCm39) |
I1843L |
probably damaging |
Het |
| Ep400 |
C |
A |
5: 110,841,411 (GRCm39) |
|
probably benign |
Het |
| Fbln2 |
A |
G |
6: 91,236,732 (GRCm39) |
N749S |
possibly damaging |
Het |
| Gpc5 |
A |
G |
14: 115,607,610 (GRCm39) |
H404R |
probably benign |
Het |
| Hyal6 |
A |
G |
6: 24,734,757 (GRCm39) |
D230G |
possibly damaging |
Het |
| Itga5 |
T |
C |
15: 103,259,222 (GRCm39) |
D735G |
probably damaging |
Het |
| Kansl2 |
T |
A |
15: 98,422,551 (GRCm39) |
Q339L |
possibly damaging |
Het |
| Lrp4 |
T |
A |
2: 91,322,398 (GRCm39) |
M1078K |
probably benign |
Het |
| Mmp24 |
A |
T |
2: 155,640,099 (GRCm39) |
Y143F |
probably damaging |
Het |
| Mroh7 |
A |
T |
4: 106,559,697 (GRCm39) |
C743* |
probably null |
Het |
| Myh14 |
T |
C |
7: 44,287,270 (GRCm39) |
N618D |
probably damaging |
Het |
| Myo19 |
A |
T |
11: 84,788,022 (GRCm39) |
M324L |
probably benign |
Het |
| Nectin2 |
T |
C |
7: 19,472,065 (GRCm39) |
N108S |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,329,642 (GRCm39) |
I191T |
probably damaging |
Het |
| Odf4 |
T |
C |
11: 68,817,638 (GRCm39) |
N18D |
probably benign |
Het |
| Or5aq6 |
T |
A |
2: 86,923,403 (GRCm39) |
I113F |
probably benign |
Het |
| Pcsk2 |
T |
G |
2: 143,532,286 (GRCm39) |
L145V |
probably damaging |
Het |
| Pdzrn3 |
C |
A |
6: 101,127,983 (GRCm39) |
Q894H |
probably benign |
Het |
| Pfpl |
G |
A |
19: 12,407,290 (GRCm39) |
V514I |
probably benign |
Het |
| Plbd1 |
A |
T |
6: 136,594,250 (GRCm39) |
M333K |
probably damaging |
Het |
| Plec |
A |
T |
15: 76,062,356 (GRCm39) |
M2554K |
possibly damaging |
Het |
| Psmb5 |
A |
G |
14: 54,851,840 (GRCm39) |
Y115H |
possibly damaging |
Het |
| Rictor |
A |
G |
15: 6,788,977 (GRCm39) |
N198D |
possibly damaging |
Het |
| Sec16a |
C |
T |
2: 26,315,876 (GRCm39) |
W262* |
probably null |
Het |
| Sfmbt1 |
A |
G |
14: 30,488,053 (GRCm39) |
D8G |
possibly damaging |
Het |
| Sptbn5 |
T |
G |
2: 119,906,881 (GRCm39) |
|
probably benign |
Het |
| Sqor |
A |
G |
2: 122,649,514 (GRCm39) |
D139G |
possibly damaging |
Het |
| Sugt1 |
A |
T |
14: 79,844,701 (GRCm39) |
T139S |
probably benign |
Het |
| Tcp11 |
G |
A |
17: 28,290,646 (GRCm39) |
P159S |
probably damaging |
Het |
| Tmem262 |
A |
G |
19: 6,130,542 (GRCm39) |
T89A |
possibly damaging |
Het |
| Tnfaip6 |
C |
A |
2: 51,933,795 (GRCm39) |
T50N |
probably damaging |
Het |
| Ttll9 |
T |
C |
2: 152,826,182 (GRCm39) |
Y131H |
probably damaging |
Het |
| Vmn1r173 |
T |
A |
7: 23,402,320 (GRCm39) |
M185K |
probably damaging |
Het |
| Vmn2r111 |
T |
C |
17: 22,778,032 (GRCm39) |
N549S |
possibly damaging |
Het |
| Vmn2r52 |
G |
A |
7: 9,893,090 (GRCm39) |
T683I |
probably damaging |
Het |
| Vps53 |
A |
T |
11: 76,025,253 (GRCm39) |
I197N |
probably damaging |
Het |
| Washc4 |
T |
A |
10: 83,394,482 (GRCm39) |
F269L |
possibly damaging |
Het |
| Wdfy4 |
C |
T |
14: 32,769,208 (GRCm39) |
V2086M |
possibly damaging |
Het |
| Zfp592 |
A |
T |
7: 80,675,234 (GRCm39) |
T733S |
possibly damaging |
Het |
| Zfp599 |
A |
G |
9: 22,161,538 (GRCm39) |
F209S |
probably damaging |
Het |
|
| Other mutations in Rsrc2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00646:Rsrc2
|
APN |
5 |
123,877,685 (GRCm39) |
utr 5 prime |
probably benign |
|
|
IGL03268:Rsrc2
|
APN |
5 |
123,878,790 (GRCm39) |
nonsense |
probably null |
|
|
PIT4519001:Rsrc2
|
UTSW |
5 |
123,883,135 (GRCm39) |
missense |
unknown |
|
|
R0254:Rsrc2
|
UTSW |
5 |
123,878,910 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R2889:Rsrc2
|
UTSW |
5 |
123,874,620 (GRCm39) |
critical splice donor site |
probably benign |
|
|
R3875:Rsrc2
|
UTSW |
5 |
123,874,691 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R4914:Rsrc2
|
UTSW |
5 |
123,877,613 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5200:Rsrc2
|
UTSW |
5 |
123,877,562 (GRCm39) |
nonsense |
probably null |
|
|
R5237:Rsrc2
|
UTSW |
5 |
123,877,645 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5473:Rsrc2
|
UTSW |
5 |
123,869,150 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6263:Rsrc2
|
UTSW |
5 |
123,877,751 (GRCm39) |
start gained |
probably benign |
|
|
R6806:Rsrc2
|
UTSW |
5 |
123,877,594 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R7145:Rsrc2
|
UTSW |
5 |
123,877,630 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R8894:Rsrc2
|
UTSW |
5 |
123,878,793 (GRCm39) |
missense |
unknown |
|
|
R9648:Rsrc2
|
UTSW |
5 |
123,877,688 (GRCm39) |
missense |
unknown |
|
|
R9768:Rsrc2
|
UTSW |
5 |
123,868,561 (GRCm39) |
missense |
probably benign |
0.08 |
|
X0020:Rsrc2
|
UTSW |
5 |
123,867,286 (GRCm39) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGTAAAGCACGCTCACTGAG -3'
(R):5'- TAGAGGCGAAGAAAGCTCCC -3'
Sequencing Primer
(F):5'- GCTCACTGAGACAACAACTAGG -3'
(R):5'- GTAGCAAGAACCTGTGCTATCTG -3'
|
| Posted On |
2018-07-23 |
Incidental Mutation