Incidental Mutation 'IGL01688:Rcor3'
| ID |
104008 |
| 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 # |
IGL01688
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
1 |
| Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 191807900 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Valine
at position 20
(E20V)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192491]
[ENSMUST00000192866]
[ENSMUST00000193144]
|
| AlphaFold |
Q6PGA0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000073279
AA Change: E218V
|
| SMART Domains |
Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: E218V
| 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: E218V
|
| SMART Domains |
Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: E218V
| 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 |
possibly damaging
Transcript: ENSMUST00000192128
AA Change: E218V
PolyPhen 2
Score 0.807 (Sensitivity: 0.84; Specificity: 0.93)
|
| SMART Domains |
Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: E218V
| 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: ENSMUST00000192491
AA Change: E218V
PolyPhen 2
Score 0.106 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: E218V
| 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 benign
Transcript: ENSMUST00000192866
AA Change: E218V
PolyPhen 2
Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: E218V
| 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: ENSMUST00000193144
|
| SMART Domains |
Protein: ENSMUSP00000142001
Gene: ENSMUSG00000037395
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
1 |
54 |
1.8e-18 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000194750
AA Change: E20V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194362
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 44 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700113H08Rik |
T |
C |
10: 87,000,985 (GRCm39) |
L59P |
probably damaging |
Het |
| Ccin |
A |
T |
4: 43,984,985 (GRCm39) |
E464V |
possibly damaging |
Het |
| Cfap58 |
A |
G |
19: 47,963,006 (GRCm39) |
D472G |
probably benign |
Het |
| Col28a1 |
C |
T |
6: 7,998,517 (GRCm39) |
E1131K |
probably damaging |
Het |
| Cpne2 |
A |
G |
8: 95,281,381 (GRCm39) |
T196A |
possibly damaging |
Het |
| Cul4a |
A |
T |
8: 13,196,571 (GRCm39) |
R742* |
probably null |
Het |
| Cyp21a1 |
T |
A |
17: 35,021,194 (GRCm39) |
I370F |
probably damaging |
Het |
| Ddx51 |
T |
C |
5: 110,803,513 (GRCm39) |
F332L |
probably benign |
Het |
| Gm8232 |
A |
G |
14: 44,671,179 (GRCm39) |
D29G |
unknown |
Het |
| Got1 |
A |
G |
19: 43,512,775 (GRCm39) |
|
probably null |
Het |
| Gpat4 |
A |
G |
8: 23,671,861 (GRCm39) |
I58T |
probably benign |
Het |
| Hdac3 |
T |
A |
18: 38,087,932 (GRCm39) |
D12V |
possibly damaging |
Het |
| Helb |
T |
C |
10: 119,944,885 (GRCm39) |
H217R |
probably damaging |
Het |
| Hpf1 |
A |
T |
8: 61,349,830 (GRCm39) |
I153L |
probably benign |
Het |
| Lgsn |
G |
A |
1: 31,243,486 (GRCm39) |
D523N |
probably damaging |
Het |
| Lrrc63 |
A |
G |
14: 75,322,422 (GRCm39) |
S561P |
possibly damaging |
Het |
| Myh6 |
G |
A |
14: 55,201,417 (GRCm39) |
T94I |
possibly damaging |
Het |
| Mzt2 |
T |
C |
16: 15,680,793 (GRCm39) |
|
probably benign |
Het |
| Ndufb5 |
T |
A |
3: 32,800,613 (GRCm39) |
L62* |
probably null |
Het |
| Nek1 |
A |
T |
8: 61,558,631 (GRCm39) |
R970* |
probably null |
Het |
| Nepro |
T |
C |
16: 44,556,369 (GRCm39) |
L509P |
probably damaging |
Het |
| Pank1 |
T |
A |
19: 34,818,252 (GRCm39) |
I96F |
probably damaging |
Het |
| Parp11 |
C |
A |
6: 127,448,569 (GRCm39) |
T62K |
probably benign |
Het |
| Pla2g2e |
T |
A |
4: 138,606,781 (GRCm39) |
|
probably benign |
Het |
| Plekha5 |
T |
A |
6: 140,515,115 (GRCm39) |
Y207N |
probably damaging |
Het |
| Pomt2 |
T |
A |
12: 87,194,294 (GRCm39) |
I37F |
probably benign |
Het |
| Prl6a1 |
T |
A |
13: 27,501,969 (GRCm39) |
V117E |
probably damaging |
Het |
| Prmt3 |
T |
A |
7: 49,498,480 (GRCm39) |
|
probably null |
Het |
| Rere |
A |
G |
4: 150,702,893 (GRCm39) |
D1449G |
probably damaging |
Het |
| Ric1 |
T |
C |
19: 29,555,014 (GRCm39) |
V376A |
probably benign |
Het |
| Rims1 |
G |
A |
1: 22,467,764 (GRCm39) |
T873I |
probably benign |
Het |
| Rras2 |
T |
C |
7: 113,659,632 (GRCm39) |
D44G |
probably damaging |
Het |
| Sbk2 |
C |
T |
7: 4,960,716 (GRCm39) |
|
probably benign |
Het |
| Slit1 |
A |
G |
19: 41,717,545 (GRCm39) |
I73T |
probably damaging |
Het |
| Spice1 |
T |
A |
16: 44,205,073 (GRCm39) |
M793K |
probably benign |
Het |
| Suco |
T |
C |
1: 161,691,480 (GRCm39) |
|
probably null |
Het |
| Tarbp1 |
A |
T |
8: 127,174,290 (GRCm39) |
W839R |
probably damaging |
Het |
| Trpc4 |
T |
A |
3: 54,173,495 (GRCm39) |
|
probably benign |
Het |
| Tubgcp5 |
T |
C |
7: 55,464,766 (GRCm39) |
V549A |
possibly damaging |
Het |
| Ubap2 |
T |
A |
4: 41,226,308 (GRCm39) |
T182S |
probably benign |
Het |
| Wrn |
A |
C |
8: 33,800,730 (GRCm39) |
|
probably benign |
Het |
| Zc3h15 |
A |
G |
2: 83,492,536 (GRCm39) |
Y337C |
probably damaging |
Het |
| Zfp292 |
T |
A |
4: 34,807,855 (GRCm39) |
I1730F |
possibly damaging |
Het |
| Zfp609 |
A |
G |
9: 65,611,307 (GRCm39) |
V552A |
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 |
|
|
IGL01905:Rcor3
|
APN |
1 |
191,785,302 (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 |
2014-01-21 |
Incidental Mutation