Incidental Mutation 'IGL03268:Rsrc2'
| ID |
415135 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rsrc2
|
| Ensembl Gene |
ENSMUSG00000029422 |
| Gene Name |
arginine/serine-rich coiled-coil 2 |
| Synonyms |
1500011J06Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.942)
|
| Stock # |
IGL03268
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
5 |
| Chromosomal Location |
123866489-123887477 bp(-) (GRCm39) |
| Type of Mutation |
nonsense |
| DNA Base Change (assembly) |
T to A
at 123878790 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Stop codon
at position 56
(K56*)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000138631
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000050827]
[ENSMUST00000057795]
[ENSMUST00000111515]
[ENSMUST00000182015]
[ENSMUST00000182093]
[ENSMUST00000182241]
[ENSMUST00000182309]
[ENSMUST00000182556]
[ENSMUST00000182489]
[ENSMUST00000182411]
[ENSMUST00000182955]
[ENSMUST00000183147]
|
| AlphaFold |
A2RTL5 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000050827
AA Change: K56*
|
| SMART Domains |
Protein: ENSMUSP00000050563
Gene: ENSMUSG00000029422
AA Change: K56*
| 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 |
probably null
Transcript: ENSMUST00000057795
AA Change: K56*
|
| SMART Domains |
Protein: ENSMUSP00000049942
Gene: ENSMUSG00000029422
AA Change: K56*
| 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 |
probably null
Transcript: ENSMUST00000111515
AA Change: K56*
|
| SMART Domains |
Protein: ENSMUSP00000107140
Gene: ENSMUSG00000029422
AA Change: K56*
| 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 |
probably null
Transcript: ENSMUST00000182309
AA Change: K114*
|
| SMART Domains |
Protein: ENSMUSP00000138691
Gene: ENSMUSG00000029422
AA Change: K114*
| 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 |
probably null
Transcript: ENSMUST00000182556
AA Change: K56*
|
| SMART Domains |
Protein: ENSMUSP00000138631
Gene: ENSMUSG00000029422
AA Change: K56*
| 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 null
Transcript: ENSMUST00000182489
AA Change: K67*
|
| SMART Domains |
Protein: ENSMUSP00000138518
Gene: ENSMUSG00000029422
AA Change: K67*
| 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 |
noncoding transcript
Transcript: ENSMUST00000182948
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182809
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182968
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182542
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182744
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000182612
|
| 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: ENSMUST00000182861
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000182584
|
| 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: ENSMUST00000183253
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 49 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1500002C15Rik |
G |
T |
4: 155,818,648 (GRCm39) |
|
probably benign |
Het |
| Acvrl1 |
A |
T |
15: 101,033,803 (GRCm39) |
I162F |
possibly damaging |
Het |
| Adprhl1 |
A |
G |
8: 13,296,170 (GRCm39) |
|
probably benign |
Het |
| Anapc7 |
G |
A |
5: 122,567,669 (GRCm39) |
|
probably null |
Het |
| Ankrd13a |
T |
C |
5: 114,930,296 (GRCm39) |
L227P |
probably damaging |
Het |
| Anxa5 |
T |
C |
3: 36,504,828 (GRCm39) |
I245V |
probably benign |
Het |
| Arf1 |
A |
T |
11: 59,103,663 (GRCm39) |
V123E |
possibly damaging |
Het |
| Catsperg1 |
G |
A |
7: 28,899,668 (GRCm39) |
R338C |
probably damaging |
Het |
| Cc2d1a |
A |
C |
8: 84,860,154 (GRCm39) |
L855R |
probably damaging |
Het |
| Cdh18 |
G |
A |
15: 23,366,953 (GRCm39) |
A220T |
probably damaging |
Het |
| Cep350 |
T |
C |
1: 155,829,295 (GRCm39) |
H203R |
probably benign |
Het |
| Cep78 |
G |
T |
19: 15,951,806 (GRCm39) |
S333* |
probably null |
Het |
| Chrna2 |
T |
A |
14: 66,388,395 (GRCm39) |
|
probably benign |
Het |
| Dact1 |
T |
C |
12: 71,364,257 (GRCm39) |
V346A |
probably damaging |
Het |
| Dcn |
A |
G |
10: 97,319,240 (GRCm39) |
I6V |
probably benign |
Het |
| Dlg3 |
A |
G |
X: 99,853,493 (GRCm39) |
Y600C |
probably damaging |
Het |
| Dmd |
A |
G |
X: 82,849,814 (GRCm39) |
E1084G |
probably damaging |
Het |
| Epb41 |
A |
C |
4: 131,655,806 (GRCm39) |
D825E |
probably damaging |
Het |
| Galc |
T |
A |
12: 98,188,852 (GRCm39) |
|
probably benign |
Het |
| Hmcn1 |
T |
A |
1: 150,648,261 (GRCm39) |
D675V |
probably damaging |
Het |
| Igkv2-137 |
A |
G |
6: 67,533,092 (GRCm39) |
D85G |
probably benign |
Het |
| Kxd1 |
A |
G |
8: 70,961,136 (GRCm39) |
I78T |
probably damaging |
Het |
| Lama1 |
G |
A |
17: 68,111,531 (GRCm39) |
G2261R |
probably damaging |
Het |
| Lama2 |
A |
T |
10: 27,298,649 (GRCm39) |
I149N |
probably damaging |
Het |
| Mbnl2 |
G |
T |
14: 120,616,569 (GRCm39) |
C61F |
probably damaging |
Het |
| Mcts1 |
T |
C |
X: 37,690,859 (GRCm39) |
I22T |
possibly damaging |
Het |
| Or4k15b |
T |
C |
14: 50,272,024 (GRCm39) |
T279A |
probably damaging |
Het |
| Or52e3 |
T |
G |
7: 102,869,848 (GRCm39) |
F308V |
probably benign |
Het |
| Pde12 |
T |
A |
14: 26,389,614 (GRCm39) |
E365V |
probably benign |
Het |
| Prl8a2 |
A |
G |
13: 27,537,938 (GRCm39) |
K204R |
probably benign |
Het |
| Rnf25 |
A |
T |
1: 74,638,217 (GRCm39) |
|
probably benign |
Het |
| Rragb |
A |
G |
X: 151,923,493 (GRCm39) |
D5G |
unknown |
Het |
| Scn5a |
T |
C |
9: 119,350,297 (GRCm39) |
Q859R |
probably damaging |
Het |
| Septin4 |
G |
A |
11: 87,480,529 (GRCm39) |
V388M |
probably damaging |
Het |
| Slc29a2 |
C |
T |
19: 5,074,531 (GRCm39) |
|
probably benign |
Het |
| Slc30a5 |
G |
A |
13: 100,943,211 (GRCm39) |
T549I |
probably damaging |
Het |
| Slc7a2 |
A |
G |
8: 41,365,554 (GRCm39) |
T462A |
probably benign |
Het |
| Spsb2 |
A |
G |
6: 124,786,450 (GRCm39) |
E61G |
probably damaging |
Het |
| Srr |
A |
G |
11: 74,803,943 (GRCm39) |
Y5H |
probably benign |
Het |
| Suclg2 |
T |
C |
6: 95,546,573 (GRCm39) |
D301G |
probably damaging |
Het |
| Syt14 |
A |
G |
1: 192,669,142 (GRCm39) |
V37A |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,612 (GRCm39) |
N210D |
probably benign |
Het |
| Tenm3 |
T |
C |
8: 48,688,558 (GRCm39) |
D2343G |
probably damaging |
Het |
| Tma7 |
A |
G |
9: 108,907,450 (GRCm39) |
|
probably benign |
Het |
| Tor3a |
T |
C |
1: 156,497,020 (GRCm39) |
D175G |
probably damaging |
Het |
| Tpo |
G |
T |
12: 30,144,964 (GRCm39) |
A595D |
possibly damaging |
Het |
| Tpst2 |
T |
C |
5: 112,456,091 (GRCm39) |
V210A |
probably damaging |
Het |
| Uchl1 |
A |
T |
5: 66,839,824 (GRCm39) |
E122V |
probably benign |
Het |
| Vmn1r210 |
A |
T |
13: 23,011,405 (GRCm39) |
F294I |
probably benign |
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 |
|
|
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 |
|
|
R6657:Rsrc2
|
UTSW |
5 |
123,877,630 (GRCm39) |
utr 5 prime |
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 |
|
| Posted On |
2016-08-02 |
Incidental Mutation