Incidental Mutation 'R3882:Rcor1'
| ID |
312824 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcor1
|
| Ensembl Gene |
ENSMUSG00000037896 |
| Gene Name |
REST corepressor 1 |
| Synonyms |
D12Wsu95e, Rocr1, 6720480E22Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R3882 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
12 |
| Chromosomal Location |
111005801-111082336 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 111070187 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 230
(A230V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000112089
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000084968]
[ENSMUST00000116388]
|
| AlphaFold |
Q8CFE3 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000084968
AA Change: A328V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000082034
Gene: ENSMUSG00000037896
AA Change: A328V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
21 |
58 |
N/A |
INTRINSIC |
|
low complexity region
|
66 |
98 |
N/A |
INTRINSIC |
|
ELM2
|
99 |
154 |
1.12e-14 |
SMART |
|
SANT
|
185 |
233 |
4.49e-7 |
SMART |
|
low complexity region
|
250 |
260 |
N/A |
INTRINSIC |
|
low complexity region
|
318 |
331 |
N/A |
INTRINSIC |
|
SANT
|
376 |
424 |
2.52e-10 |
SMART |
|
low complexity region
|
453 |
465 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000116388
AA Change: A230V
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000112089
Gene: ENSMUSG00000037896
AA Change: A230V
| Domain | Start | End | E-Value | Type |
|---|
|
ELM2
|
1 |
56 |
1.12e-14 |
SMART |
|
SANT
|
87 |
135 |
4.49e-7 |
SMART |
|
low complexity region
|
152 |
162 |
N/A |
INTRINSIC |
|
coiled coil region
|
230 |
265 |
N/A |
INTRINSIC |
|
SANT
|
278 |
326 |
2.52e-10 |
SMART |
|
low complexity region
|
355 |
367 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.2232 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.2%
|
| Validation Efficiency |
97% (33/34) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that is well-conserved, downregulated at birth, and with a specific role in determining neural cell differentiation. The encoded protein binds to the C-terminal domain of REST (repressor element-1 silencing transcription factor). [provided by RefSeq, Aug 2011]
PHENOTYPE: Mice homozygous for a null allele exhibit partial embryonic lethality, defective embryonic erythropoiesis, and decreased erythroid progenitor cell number. No homozygotes survive to P7. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acy1 |
G |
T |
9: 106,312,708 (GRCm39) |
T181K |
possibly damaging |
Het |
| Adcy4 |
A |
G |
14: 56,012,003 (GRCm39) |
F581L |
probably benign |
Het |
| Amhr2 |
G |
A |
15: 102,354,333 (GRCm39) |
G48D |
probably damaging |
Het |
| Angptl4 |
G |
A |
17: 33,996,008 (GRCm39) |
P323S |
possibly damaging |
Het |
| Arhgef17 |
A |
G |
7: 100,525,661 (GRCm39) |
F1979S |
possibly damaging |
Het |
| Bltp2 |
T |
A |
11: 78,153,526 (GRCm39) |
W24R |
probably damaging |
Het |
| C2 |
T |
C |
17: 35,092,465 (GRCm39) |
T191A |
probably benign |
Het |
| Cmya5 |
T |
A |
13: 93,227,727 (GRCm39) |
T2454S |
probably benign |
Het |
| Dstn |
A |
G |
2: 143,784,107 (GRCm39) |
E150G |
probably benign |
Het |
| Dync1h1 |
G |
T |
12: 110,595,492 (GRCm39) |
V1444F |
probably benign |
Het |
| Eif3f |
T |
C |
7: 108,540,162 (GRCm39) |
V319A |
possibly damaging |
Het |
| Gpha2 |
T |
C |
19: 6,276,919 (GRCm39) |
|
probably null |
Het |
| Hps5 |
A |
G |
7: 46,421,420 (GRCm39) |
V648A |
possibly damaging |
Het |
| Jup |
A |
G |
11: 100,269,207 (GRCm39) |
V402A |
probably benign |
Het |
| Kif18a |
A |
G |
2: 109,137,319 (GRCm39) |
N517S |
probably benign |
Het |
| Kif20b |
T |
A |
19: 34,927,480 (GRCm39) |
I874N |
probably damaging |
Het |
| Lepr |
T |
A |
4: 101,672,462 (GRCm39) |
V1162E |
probably damaging |
Het |
| Man2a2 |
A |
T |
7: 80,012,063 (GRCm39) |
V698D |
possibly damaging |
Het |
| Miip |
A |
C |
4: 147,945,509 (GRCm39) |
S376A |
possibly damaging |
Het |
| Nsun7 |
G |
A |
5: 66,435,983 (GRCm39) |
R285Q |
probably damaging |
Het |
| Nup210l |
T |
C |
3: 90,031,517 (GRCm39) |
V281A |
probably benign |
Het |
| Paxip1 |
C |
T |
5: 27,953,837 (GRCm39) |
R953Q |
probably damaging |
Het |
| Pcdha8 |
C |
A |
18: 37,126,099 (GRCm39) |
L194I |
probably damaging |
Het |
| Pcdha8 |
A |
G |
18: 37,126,624 (GRCm39) |
I369V |
probably benign |
Het |
| Pcdhga10 |
C |
A |
18: 37,880,494 (GRCm39) |
A85E |
possibly damaging |
Het |
| Ppfibp1 |
A |
G |
6: 146,899,719 (GRCm39) |
R137G |
possibly damaging |
Het |
| Scn3a |
T |
C |
2: 65,312,623 (GRCm39) |
M1191V |
probably benign |
Het |
| Skor2 |
A |
G |
18: 76,950,384 (GRCm39) |
D904G |
probably damaging |
Het |
| Suco |
A |
T |
1: 161,662,313 (GRCm39) |
V706E |
probably benign |
Het |
| Tex11 |
C |
A |
X: 99,977,021 (GRCm39) |
A487S |
possibly damaging |
Het |
| Vmn1r83 |
A |
T |
7: 12,055,329 (GRCm39) |
C243S |
probably damaging |
Het |
| Wdr17 |
A |
T |
8: 55,092,536 (GRCm39) |
C1083S |
possibly damaging |
Het |
| Zfp952 |
G |
T |
17: 33,220,949 (GRCm39) |
E18* |
probably null |
Het |
| Zfr |
G |
A |
15: 12,162,319 (GRCm39) |
R823H |
probably benign |
Het |
| Zscan25 |
G |
T |
5: 145,227,862 (GRCm39) |
G509C |
probably damaging |
Het |
|
| Other mutations in Rcor1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01869:Rcor1
|
APN |
12 |
111,070,193 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0103:Rcor1
|
UTSW |
12 |
111,076,212 (GRCm39) |
splice site |
probably benign |
|
|
R0103:Rcor1
|
UTSW |
12 |
111,076,212 (GRCm39) |
splice site |
probably benign |
|
|
R0504:Rcor1
|
UTSW |
12 |
111,068,102 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1506:Rcor1
|
UTSW |
12 |
111,076,271 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1540:Rcor1
|
UTSW |
12 |
111,070,037 (GRCm39) |
splice site |
probably benign |
|
|
R2356:Rcor1
|
UTSW |
12 |
111,076,226 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3952:Rcor1
|
UTSW |
12 |
111,006,169 (GRCm39) |
unclassified |
probably benign |
|
|
R4881:Rcor1
|
UTSW |
12 |
111,063,986 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5718:Rcor1
|
UTSW |
12 |
111,068,069 (GRCm39) |
missense |
probably benign |
0.13 |
|
R6250:Rcor1
|
UTSW |
12 |
111,078,311 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6798:Rcor1
|
UTSW |
12 |
111,006,320 (GRCm39) |
splice site |
probably benign |
|
|
R6901:Rcor1
|
UTSW |
12 |
111,075,322 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R7538:Rcor1
|
UTSW |
12 |
111,034,271 (GRCm39) |
splice site |
probably null |
|
|
R7761:Rcor1
|
UTSW |
12 |
111,076,297 (GRCm39) |
missense |
|
|
|
R8334:Rcor1
|
UTSW |
12 |
111,059,529 (GRCm39) |
missense |
|
|
|
R9016:Rcor1
|
UTSW |
12 |
111,047,933 (GRCm39) |
intron |
probably benign |
|
|
R9236:Rcor1
|
UTSW |
12 |
111,070,080 (GRCm39) |
missense |
|
|
|
R9242:Rcor1
|
UTSW |
12 |
111,076,228 (GRCm39) |
nonsense |
probably null |
|
|
R9263:Rcor1
|
UTSW |
12 |
111,078,327 (GRCm39) |
missense |
|
|
|
R9310:Rcor1
|
UTSW |
12 |
111,066,393 (GRCm39) |
missense |
|
|
|
X0027:Rcor1
|
UTSW |
12 |
111,006,435 (GRCm39) |
missense |
probably benign |
0.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACATGCTTACTACTGTCCATTTGAC -3'
(R):5'- ATCCAATTGCCAGTGAGAGG -3'
Sequencing Primer
(F):5'- AGACAGTTCCTCAGGTCA -3'
(R):5'- GTGCATCACTGGCAATCAGAGTTC -3'
|
| Posted On |
2015-04-30 |
Incidental Mutation