Incidental Mutation 'IGL01905:Rcor3'
| ID |
179652 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Rcor3
|
| Ensembl Gene |
ENSMUSG00000037395 |
| Gene Name |
REST corepressor 3 |
| Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
IGL01905
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 191785302 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 489
(P489S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192222]
[ENSMUST00000192491]
[ENSMUST00000192866]
|
| AlphaFold |
Q6PGA0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000073279
AA Change: P389S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: P389S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
110 |
3.89e-14 |
SMART |
|
SANT
|
141 |
189 |
4.56e-8 |
SMART |
|
low complexity region
|
349 |
363 |
N/A |
INTRINSIC |
|
low complexity region
|
370 |
384 |
N/A |
INTRINSIC |
|
low complexity region
|
398 |
414 |
N/A |
INTRINSIC |
|
| Predicted Effect |
unknown
Transcript: ENSMUST00000110849
AA Change: S408F
|
| SMART Domains |
Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: S408F
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
110 |
3.89e-14 |
SMART |
|
SANT
|
141 |
189 |
4.56e-8 |
SMART |
|
low complexity region
|
357 |
374 |
N/A |
INTRINSIC |
|
low complexity region
|
397 |
413 |
N/A |
INTRINSIC |
|
low complexity region
|
418 |
433 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000181127
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192128
|
| SMART Domains |
Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
110 |
1.8e-18 |
SMART |
|
SANT
|
141 |
189 |
2.8e-10 |
SMART |
|
coiled coil region
|
292 |
329 |
N/A |
INTRINSIC |
|
SANT
|
342 |
390 |
7.5e-13 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192158
|
| SMART Domains |
Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
98 |
6.6e-6 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192222
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000192491
|
| SMART Domains |
Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
110 |
1.8e-18 |
SMART |
|
SANT
|
141 |
189 |
2.8e-10 |
SMART |
|
coiled coil region
|
292 |
329 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192866
AA Change: P489S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: P489S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
110 |
1.8e-18 |
SMART |
|
SANT
|
141 |
189 |
2.8e-10 |
SMART |
|
coiled coil region
|
292 |
329 |
N/A |
INTRINSIC |
|
SANT
|
342 |
390 |
7.5e-13 |
SMART |
|
low complexity region
|
449 |
463 |
N/A |
INTRINSIC |
|
low complexity region
|
470 |
484 |
N/A |
INTRINSIC |
|
low complexity region
|
498 |
514 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000194750
AA Change: P249S
PolyPhen 2
Score 0.095 (Sensitivity: 0.93; Specificity: 0.85)
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 26 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 2610008E11Rik |
A |
T |
10: 78,903,582 (GRCm39) |
C245S |
probably damaging |
Het |
| Apol10b |
A |
G |
15: 77,469,559 (GRCm39) |
I206T |
possibly damaging |
Het |
| Bax |
A |
T |
7: 45,115,542 (GRCm39) |
I31N |
probably damaging |
Het |
| Ccdc116 |
C |
A |
16: 16,960,425 (GRCm39) |
V131L |
probably damaging |
Het |
| Ces2b |
C |
A |
8: 105,560,594 (GRCm39) |
N136K |
probably damaging |
Het |
| Csnk1d |
A |
T |
11: 120,864,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Fam167b |
A |
G |
4: 129,470,892 (GRCm39) |
M152T |
probably damaging |
Het |
| Gm10718 |
A |
T |
9: 3,025,118 (GRCm39) |
Y194F |
probably benign |
Het |
| Gm21738 |
G |
A |
14: 19,416,979 (GRCm38) |
S144L |
probably benign |
Het |
| Gm5862 |
A |
C |
5: 26,227,769 (GRCm39) |
W41G |
probably benign |
Het |
| Heatr6 |
C |
T |
11: 83,672,538 (GRCm39) |
S1182L |
probably benign |
Het |
| Lpcat4 |
T |
C |
2: 112,073,388 (GRCm39) |
|
probably null |
Het |
| Myh8 |
T |
C |
11: 67,175,477 (GRCm39) |
Y311H |
possibly damaging |
Het |
| Naaladl1 |
G |
A |
19: 6,165,577 (GRCm39) |
D744N |
possibly damaging |
Het |
| Pik3r4 |
C |
A |
9: 105,522,077 (GRCm39) |
Y214* |
probably null |
Het |
| Proca1 |
A |
G |
11: 78,095,716 (GRCm39) |
H29R |
probably damaging |
Het |
| Prrc2c |
T |
C |
1: 162,532,898 (GRCm39) |
|
probably benign |
Het |
| Rela |
A |
T |
19: 5,695,592 (GRCm39) |
N337I |
probably benign |
Het |
| Rnf123 |
C |
T |
9: 107,948,569 (GRCm39) |
|
probably benign |
Het |
| Septin9 |
T |
A |
11: 117,109,715 (GRCm39) |
S12T |
probably benign |
Het |
| Serpina1c |
A |
T |
12: 103,863,318 (GRCm39) |
L294Q |
possibly damaging |
Het |
| Slc12a5 |
A |
G |
2: 164,832,301 (GRCm39) |
D740G |
probably benign |
Het |
| Vmn2r129 |
C |
T |
4: 156,690,549 (GRCm39) |
|
noncoding transcript |
Het |
| Zfp473 |
T |
C |
7: 44,383,151 (GRCm39) |
K394R |
probably benign |
Het |
| Zkscan7 |
C |
T |
9: 122,719,826 (GRCm39) |
P171S |
possibly damaging |
Het |
| Zmynd19 |
T |
A |
2: 24,841,541 (GRCm39) |
F36L |
probably benign |
Het |
|
| Other mutations in Rcor3 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00505:Rcor3
|
APN |
1 |
191,812,271 (GRCm39) |
unclassified |
probably benign |
|
|
IGL01688:Rcor3
|
APN |
1 |
191,807,900 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0523:Rcor3
|
UTSW |
1 |
191,814,736 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1305:Rcor3
|
UTSW |
1 |
191,800,646 (GRCm39) |
missense |
possibly damaging |
0.50 |
|
R1847:Rcor3
|
UTSW |
1 |
191,785,133 (GRCm39) |
missense |
possibly damaging |
0.83 |
|
R1850:Rcor3
|
UTSW |
1 |
191,804,411 (GRCm39) |
missense |
probably benign |
|
|
R3938:Rcor3
|
UTSW |
1 |
191,785,385 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R4403:Rcor3
|
UTSW |
1 |
191,804,212 (GRCm39) |
splice site |
probably null |
|
|
R4590:Rcor3
|
UTSW |
1 |
191,810,217 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4750:Rcor3
|
UTSW |
1 |
191,814,749 (GRCm39) |
missense |
unknown |
|
|
R5219:Rcor3
|
UTSW |
1 |
191,821,813 (GRCm39) |
utr 5 prime |
probably benign |
|
|
R5617:Rcor3
|
UTSW |
1 |
191,804,430 (GRCm39) |
missense |
probably benign |
0.09 |
|
R6059:Rcor3
|
UTSW |
1 |
191,804,240 (GRCm39) |
missense |
probably benign |
0.21 |
|
R6156:Rcor3
|
UTSW |
1 |
191,812,142 (GRCm39) |
unclassified |
probably benign |
|
|
R6250:Rcor3
|
UTSW |
1 |
191,785,196 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6258:Rcor3
|
UTSW |
1 |
191,808,559 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6260:Rcor3
|
UTSW |
1 |
191,808,559 (GRCm39) |
missense |
probably benign |
0.27 |
|
R6808:Rcor3
|
UTSW |
1 |
191,822,179 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
R7194:Rcor3
|
UTSW |
1 |
191,810,261 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7387:Rcor3
|
UTSW |
1 |
191,821,824 (GRCm39) |
start gained |
probably benign |
|
|
R7402:Rcor3
|
UTSW |
1 |
191,812,283 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7407:Rcor3
|
UTSW |
1 |
191,785,972 (GRCm39) |
missense |
probably benign |
|
|
R7432:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7451:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7452:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7570:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7571:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7572:Rcor3
|
UTSW |
1 |
191,822,173 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7718:Rcor3
|
UTSW |
1 |
191,786,021 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7729:Rcor3
|
UTSW |
1 |
191,786,078 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7994:Rcor3
|
UTSW |
1 |
191,785,945 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8221:Rcor3
|
UTSW |
1 |
191,814,749 (GRCm39) |
missense |
unknown |
|
|
R9077:Rcor3
|
UTSW |
1 |
191,807,865 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R9157:Rcor3
|
UTSW |
1 |
191,810,181 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9206:Rcor3
|
UTSW |
1 |
191,785,895 (GRCm39) |
makesense |
probably null |
|
|
R9313:Rcor3
|
UTSW |
1 |
191,810,181 (GRCm39) |
missense |
possibly damaging |
0.63 |
|
R9443:Rcor3
|
UTSW |
1 |
191,786,050 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2014-05-07 |
Incidental Mutation