Incidental Mutation 'R5219:Rcor3'
ID |
470638 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rcor3
|
Ensembl Gene |
ENSMUSG00000037395 |
Gene Name |
REST corepressor 3 |
Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
MMRRC Submission |
042792-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.695)
|
Stock # |
R5219 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
1 |
Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
Type of Mutation |
utr 5 prime |
DNA Base Change (assembly) |
T to A
at 191821813 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
|
Ref Sequence |
ENSEMBL: ENSMUSP00000142001
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192491]
[ENSMUST00000192866]
[ENSMUST00000193144]
|
AlphaFold |
Q6PGA0 |
Predicted Effect |
probably benign
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 benign
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 |
noncoding transcript
Transcript: ENSMUST00000180598
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000191866
|
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: 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 |
noncoding transcript
Transcript: ENSMUST00000195083
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193322
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194395
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000194493
|
Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000193144
|
SMART Domains |
Protein: ENSMUSP00000142001 Gene: ENSMUSG00000037395
Domain | Start | End | E-Value | Type |
ELM2
|
1 |
54 |
1.8e-18 |
SMART |
|
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.7%
|
Validation Efficiency |
97% (68/70) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 62 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
1700063H04Rik |
A |
G |
6: 122,369,299 (GRCm39) |
|
noncoding transcript |
Het |
4933428M09Rik |
G |
T |
X: 138,080,282 (GRCm39) |
G16* |
probably null |
Het |
A2m |
A |
G |
6: 121,653,909 (GRCm39) |
H1414R |
possibly damaging |
Het |
A530064D06Rik |
G |
T |
17: 48,470,518 (GRCm39) |
D154E |
possibly damaging |
Het |
Adam34 |
C |
T |
8: 44,104,461 (GRCm39) |
D395N |
probably benign |
Het |
Agl |
A |
G |
3: 116,572,370 (GRCm39) |
V195A |
possibly damaging |
Het |
Aip |
T |
C |
19: 4,165,180 (GRCm39) |
I230V |
probably benign |
Het |
Akap10 |
A |
C |
11: 61,813,617 (GRCm39) |
S43A |
probably benign |
Het |
Ap3d1 |
T |
C |
10: 80,545,651 (GRCm39) |
E1026G |
probably benign |
Het |
Arid5b |
T |
A |
10: 68,113,940 (GRCm39) |
K32N |
probably benign |
Het |
Atp6v0a2 |
C |
A |
5: 124,790,249 (GRCm39) |
N477K |
probably damaging |
Het |
Atr |
A |
C |
9: 95,763,291 (GRCm39) |
I1062L |
probably damaging |
Het |
Ces2h |
T |
C |
8: 105,743,278 (GRCm39) |
V171A |
probably damaging |
Het |
Cnot2 |
A |
G |
10: 116,342,215 (GRCm39) |
|
probably null |
Het |
Cpne3 |
A |
T |
4: 19,526,366 (GRCm39) |
L391H |
probably damaging |
Het |
Ctdp1 |
A |
G |
18: 80,490,675 (GRCm39) |
L715P |
probably damaging |
Het |
Dcxr |
T |
C |
11: 120,616,314 (GRCm39) |
|
probably benign |
Het |
Dhtkd1 |
C |
T |
2: 5,919,627 (GRCm39) |
A585T |
probably benign |
Het |
Elapor2 |
G |
T |
5: 9,511,486 (GRCm39) |
W949C |
probably damaging |
Het |
Fcgbp |
G |
A |
7: 27,803,510 (GRCm39) |
A1705T |
probably damaging |
Het |
Galr1 |
A |
T |
18: 82,412,110 (GRCm39) |
V252D |
probably damaging |
Het |
Gm11677 |
A |
G |
11: 111,616,225 (GRCm39) |
|
noncoding transcript |
Het |
Gp6 |
A |
G |
7: 4,371,998 (GRCm39) |
V252A |
possibly damaging |
Het |
Inpp4b |
T |
C |
8: 82,610,785 (GRCm39) |
V176A |
probably benign |
Het |
Irx2 |
G |
C |
13: 72,779,420 (GRCm39) |
A235P |
probably damaging |
Het |
Klk1b11 |
G |
A |
7: 43,649,120 (GRCm39) |
C219Y |
probably damaging |
Het |
Lamc1 |
C |
A |
1: 153,103,442 (GRCm39) |
V1375L |
probably damaging |
Het |
Lars1 |
A |
T |
18: 42,367,785 (GRCm39) |
V431E |
probably benign |
Het |
Lmntd2 |
T |
C |
7: 140,791,387 (GRCm39) |
|
probably null |
Het |
Ltbp4 |
A |
T |
7: 27,026,746 (GRCm39) |
W500R |
probably benign |
Het |
Ltbp4 |
AATTCAGGCCAAGGCTGGGATTCAGGCCGAGGCCGGGATTCAGGCCTAGGCTGGGATTCAGGC |
AATTCAGGCCTAGGCTGGGATTCAGGC |
7: 27,026,736 (GRCm39) |
|
probably benign |
Het |
Mdn1 |
C |
T |
4: 32,723,690 (GRCm39) |
P2542L |
probably damaging |
Het |
Nadk |
A |
G |
4: 155,668,711 (GRCm39) |
I127M |
probably benign |
Het |
Nxph1 |
T |
A |
6: 9,247,765 (GRCm39) |
Y245* |
probably null |
Het |
Or4a73 |
C |
T |
2: 89,421,046 (GRCm39) |
V138I |
probably benign |
Het |
Or7s1a-ps1 |
T |
C |
9: 18,843,990 (GRCm39) |
|
probably benign |
Het |
Or8g34 |
G |
T |
9: 39,373,563 (GRCm39) |
V276L |
probably benign |
Het |
Or9k7 |
T |
A |
10: 130,046,793 (GRCm39) |
T69S |
possibly damaging |
Het |
Orc1 |
T |
C |
4: 108,447,966 (GRCm39) |
F71S |
probably damaging |
Het |
Pccb |
A |
T |
9: 100,867,262 (GRCm39) |
Y404* |
probably null |
Het |
Pde2a |
A |
C |
7: 101,153,811 (GRCm39) |
I460L |
probably damaging |
Het |
Ppp3cb |
G |
T |
14: 20,578,263 (GRCm39) |
C162* |
probably null |
Het |
Prickle2 |
T |
C |
6: 92,353,511 (GRCm39) |
S652G |
probably benign |
Het |
Prss38 |
A |
G |
11: 59,266,309 (GRCm39) |
|
probably benign |
Het |
Rgp1 |
C |
T |
4: 43,579,440 (GRCm39) |
A16V |
probably damaging |
Het |
Rptor |
G |
A |
11: 119,734,539 (GRCm39) |
G514D |
probably damaging |
Het |
Scnn1g |
T |
A |
7: 121,365,489 (GRCm39) |
Y514N |
probably damaging |
Het |
Sephs1 |
A |
G |
2: 4,896,501 (GRCm39) |
D134G |
probably benign |
Het |
Slc38a3 |
A |
G |
9: 107,529,111 (GRCm39) |
|
probably benign |
Het |
Slc6a1 |
A |
T |
6: 114,287,182 (GRCm39) |
M388L |
probably benign |
Het |
Ssbp3 |
A |
T |
4: 106,904,655 (GRCm39) |
N350I |
probably damaging |
Het |
Stam2 |
G |
A |
2: 52,626,305 (GRCm39) |
|
probably benign |
Het |
Sult1e1 |
A |
T |
5: 87,726,445 (GRCm39) |
I223N |
probably damaging |
Het |
Tcf20 |
C |
A |
15: 82,740,582 (GRCm39) |
G290C |
probably damaging |
Het |
Tekt2 |
G |
T |
4: 126,216,057 (GRCm39) |
T412K |
possibly damaging |
Het |
Trabd2b |
A |
G |
4: 114,460,007 (GRCm39) |
T382A |
probably damaging |
Het |
Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
Ubr4 |
C |
A |
4: 139,204,543 (GRCm39) |
Y4818* |
probably null |
Het |
Vmn1r204 |
A |
T |
13: 22,741,069 (GRCm39) |
R233S |
probably damaging |
Het |
Vmn1r86 |
A |
G |
7: 12,836,382 (GRCm39) |
Y165H |
probably damaging |
Het |
Yaf2 |
A |
C |
15: 93,183,355 (GRCm39) |
C152G |
probably benign |
Het |
Zfp804b |
A |
T |
5: 6,820,703 (GRCm39) |
F751I |
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 |
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 |
|
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'- GTTCACCTTGCCATGCACAC -3'
(R):5'- TTACTGGGGAAGAGCCGATC -3'
Sequencing Primer
(F):5'- ACGCCCTGTGTCACTGC -3'
(R):5'- TGCACTTCTCGGAGCCC -3'
|
Posted On |
2017-03-31 |