Incidental Mutation 'R4403:Rcor3'
| ID |
326714 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcor3
|
| Ensembl Gene |
ENSMUSG00000037395 |
| Gene Name |
REST corepressor 3 |
| Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
| MMRRC Submission |
041687-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R4403 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
| Type of Mutation |
splice site (3 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 191804212 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192222]
[ENSMUST00000192491]
[ENSMUST00000192491]
[ENSMUST00000192866]
[ENSMUST00000192866]
|
| AlphaFold |
Q6PGA0 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000073279
|
| SMART Domains |
Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
| 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 |
probably null
Transcript: ENSMUST00000110849
|
| SMART Domains |
Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
| 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 |
probably null
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 null
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 null
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 null
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 null
Transcript: ENSMUST00000192866
|
| SMART Domains |
Protein: ENSMUSP00000142054
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 |
|
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 null
Transcript: ENSMUST00000192866
|
| SMART Domains |
Protein: ENSMUSP00000142054
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 |
|
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 null
Transcript: ENSMUST00000194750
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000194750
|
| Meta Mutation Damage Score |
0.9755 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.0%
|
| Validation Efficiency |
98% (43/44) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abca12 |
T |
C |
1: 71,306,595 (GRCm39) |
Y2037C |
probably damaging |
Het |
| Adam33 |
T |
C |
2: 130,895,190 (GRCm39) |
T647A |
probably benign |
Het |
| Adamts9 |
C |
T |
6: 92,836,845 (GRCm39) |
A636T |
probably damaging |
Het |
| Aldh3b2 |
A |
T |
19: 4,030,059 (GRCm39) |
I348F |
probably damaging |
Het |
| Ap3b1 |
C |
A |
13: 94,554,607 (GRCm39) |
L248I |
probably damaging |
Het |
| Btbd9 |
A |
G |
17: 30,704,906 (GRCm39) |
|
probably benign |
Het |
| C2cd3 |
A |
G |
7: 100,081,306 (GRCm39) |
R1361G |
probably damaging |
Het |
| Cage1 |
T |
A |
13: 38,207,078 (GRCm39) |
I256F |
probably damaging |
Het |
| Calcr |
A |
T |
6: 3,708,484 (GRCm39) |
|
probably null |
Het |
| Cbr2 |
T |
A |
11: 120,621,628 (GRCm39) |
N83I |
probably damaging |
Het |
| Crb1 |
T |
C |
1: 139,176,117 (GRCm39) |
N561S |
probably benign |
Het |
| Dpp6 |
T |
A |
5: 27,923,460 (GRCm39) |
L690Q |
probably damaging |
Het |
| Eef1d |
C |
T |
15: 75,774,769 (GRCm39) |
V213I |
probably benign |
Het |
| Enthd1 |
A |
G |
15: 80,337,025 (GRCm39) |
S470P |
probably benign |
Het |
| Fat3 |
T |
C |
9: 15,856,169 (GRCm39) |
Y3871C |
probably damaging |
Het |
| Fras1 |
C |
A |
5: 96,790,479 (GRCm39) |
T951K |
probably damaging |
Het |
| Gosr1 |
T |
C |
11: 76,645,561 (GRCm39) |
E73G |
possibly damaging |
Het |
| Il11 |
T |
C |
7: 4,778,995 (GRCm39) |
Y45C |
probably damaging |
Het |
| Kcnk15 |
A |
G |
2: 163,700,538 (GRCm39) |
N259S |
probably damaging |
Het |
| Kdm5d |
G |
T |
Y: 899,830 (GRCm39) |
R132L |
probably damaging |
Het |
| Med21 |
C |
T |
6: 146,550,680 (GRCm39) |
R64* |
probably null |
Het |
| Muc19 |
A |
T |
15: 91,755,768 (GRCm39) |
|
noncoding transcript |
Het |
| Nlrp4e |
T |
A |
7: 23,020,888 (GRCm39) |
C458* |
probably null |
Het |
| Obscn |
T |
C |
11: 58,959,919 (GRCm39) |
Q3525R |
possibly damaging |
Het |
| Oga |
A |
T |
19: 45,767,078 (GRCm39) |
D99E |
probably damaging |
Het |
| Phf3 |
A |
G |
1: 30,843,490 (GRCm39) |
L1823S |
probably damaging |
Het |
| Pla2g1b |
T |
A |
5: 115,608,947 (GRCm39) |
Y47* |
probably null |
Het |
| Prmt3 |
T |
A |
7: 49,430,105 (GRCm39) |
H69Q |
probably damaging |
Het |
| Rhoa |
T |
A |
9: 108,214,013 (GRCm39) |
I192N |
probably benign |
Het |
| Sbf1 |
T |
C |
15: 89,178,157 (GRCm39) |
I1532V |
possibly damaging |
Het |
| Scn11a |
T |
C |
9: 119,624,733 (GRCm39) |
T530A |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,733,137 (GRCm39) |
F39L |
probably benign |
Het |
| Tfpi |
A |
T |
2: 84,275,206 (GRCm39) |
M134K |
probably damaging |
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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGCAGAGTATCACATCTGACCATG -3'
(R):5'- GTTCTCTCAGGGTAACGCTGAC -3'
Sequencing Primer
(F):5'- TCACATCTGACCATGATGAGGTC -3'
(R):5'- AACCAGCAAGATCGGCCTGG -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation