Incidental Mutation 'R6059:Rcor3'
| ID |
483102 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcor3
|
| Ensembl Gene |
ENSMUSG00000037395 |
| Gene Name |
REST corepressor 3 |
| Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
| MMRRC Submission |
044225-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.723)
|
| Stock # |
R6059 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 191804240 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 303
(M303K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000142054
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192222]
[ENSMUST00000192491]
[ENSMUST00000192866]
|
| AlphaFold |
Q6PGA0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000073279
AA Change: M303K
|
| SMART Domains |
Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: M303K
| 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: M303K
|
| SMART Domains |
Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: M303K
| 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 benign
Transcript: ENSMUST00000192128
AA Change: M303K
PolyPhen 2
Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
|
| SMART Domains |
Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: M303K
| 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
AA Change: M303K
PolyPhen 2
Score 0.100 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: M303K
| 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: M303K
PolyPhen 2
Score 0.208 (Sensitivity: 0.92; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: M303K
| 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 |
unknown
Transcript: ENSMUST00000194750
AA Change: M105K
|
| Meta Mutation Damage Score |
0.0604 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.8%
- 20x: 93.3%
|
| Validation Efficiency |
95% (54/57) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700067P10Rik |
C |
A |
17: 48,400,847 (GRCm39) |
T44K |
probably benign |
Het |
| Ablim2 |
A |
G |
5: 36,014,508 (GRCm39) |
D189G |
probably benign |
Het |
| Abo |
A |
G |
2: 26,733,365 (GRCm39) |
V278A |
possibly damaging |
Het |
| Anxa1 |
A |
G |
19: 20,355,064 (GRCm39) |
F237L |
possibly damaging |
Het |
| Atp11b |
A |
G |
3: 35,868,326 (GRCm39) |
Y466C |
possibly damaging |
Het |
| Cfh |
T |
A |
1: 140,046,428 (GRCm39) |
K531N |
possibly damaging |
Het |
| Cgref1 |
G |
T |
5: 31,102,728 (GRCm39) |
P31Q |
probably damaging |
Het |
| Clca3a2 |
G |
A |
3: 144,516,531 (GRCm39) |
A355V |
probably damaging |
Het |
| Cntnap5c |
T |
A |
17: 58,620,707 (GRCm39) |
C929S |
probably damaging |
Het |
| Col6a6 |
A |
T |
9: 105,661,116 (GRCm39) |
V331D |
probably damaging |
Het |
| Cyp4a12b |
T |
A |
4: 115,295,301 (GRCm39) |
V469E |
possibly damaging |
Het |
| Dchs2 |
A |
G |
3: 83,263,043 (GRCm39) |
S3104G |
probably benign |
Het |
| Ddx24 |
G |
T |
12: 103,374,559 (GRCm39) |
A875E |
probably damaging |
Het |
| Dsc1 |
A |
T |
18: 20,243,299 (GRCm39) |
N51K |
probably damaging |
Het |
| Efcab3 |
T |
C |
11: 104,927,595 (GRCm39) |
I4788T |
probably benign |
Het |
| Epb41l3 |
C |
T |
17: 69,593,793 (GRCm39) |
T537I |
probably damaging |
Het |
| Epb41l3 |
A |
G |
17: 69,591,637 (GRCm39) |
E708G |
probably damaging |
Het |
| Fam162b |
A |
T |
10: 51,466,403 (GRCm39) |
C39S |
probably benign |
Het |
| Garre1 |
G |
A |
7: 33,944,888 (GRCm39) |
A452V |
possibly damaging |
Het |
| Gbf1 |
T |
C |
19: 46,253,687 (GRCm39) |
I531T |
probably damaging |
Het |
| Glipr1l2 |
T |
C |
10: 111,919,423 (GRCm39) |
V48A |
probably benign |
Het |
| Gorasp1 |
A |
G |
9: 119,759,072 (GRCm39) |
V177A |
probably damaging |
Het |
| Gys1 |
A |
G |
7: 45,104,712 (GRCm39) |
|
probably null |
Het |
| Hif1a |
T |
A |
12: 73,988,574 (GRCm39) |
V523E |
probably damaging |
Het |
| Hnrnph3 |
A |
T |
10: 62,854,641 (GRCm39) |
|
probably benign |
Het |
| Lcn9 |
C |
A |
2: 25,714,737 (GRCm39) |
L159I |
possibly damaging |
Het |
| Luzp1 |
C |
T |
4: 136,268,791 (GRCm39) |
A338V |
probably benign |
Het |
| Map3k10 |
A |
T |
7: 27,356,247 (GRCm39) |
S891T |
probably damaging |
Het |
| Mmrn2 |
C |
T |
14: 34,119,548 (GRCm39) |
Q97* |
probably null |
Het |
| Mov10 |
G |
A |
3: 104,725,266 (GRCm39) |
|
probably benign |
Het |
| Ncam1 |
A |
C |
9: 49,455,966 (GRCm39) |
Y551D |
probably damaging |
Het |
| Ncf1 |
A |
T |
5: 134,252,341 (GRCm39) |
Y237N |
probably damaging |
Het |
| Nipbl |
A |
T |
15: 8,325,052 (GRCm39) |
I2537N |
probably damaging |
Het |
| Nlrp1b |
A |
T |
11: 71,107,836 (GRCm39) |
V555E |
possibly damaging |
Het |
| Nod2 |
T |
C |
8: 89,391,042 (GRCm39) |
Y428H |
probably damaging |
Het |
| Nup133 |
C |
A |
8: 124,641,335 (GRCm39) |
A862S |
probably damaging |
Het |
| Pcdhgb2 |
T |
A |
18: 37,823,078 (GRCm39) |
L23* |
probably null |
Het |
| Pclo |
A |
G |
5: 14,861,714 (GRCm39) |
E4889G |
unknown |
Het |
| Plcd3 |
T |
A |
11: 102,971,227 (GRCm39) |
I110F |
possibly damaging |
Het |
| Plxna2 |
C |
A |
1: 194,493,279 (GRCm39) |
N1851K |
possibly damaging |
Het |
| Ppp2r5c |
C |
A |
12: 110,541,222 (GRCm39) |
A457E |
probably benign |
Het |
| Ppp5c |
C |
T |
7: 16,761,832 (GRCm39) |
|
probably benign |
Het |
| Pramel25 |
T |
G |
4: 143,520,550 (GRCm39) |
S101A |
possibly damaging |
Het |
| Prg4 |
T |
A |
1: 150,325,748 (GRCm39) |
Y1009F |
possibly damaging |
Het |
| Rrn3 |
G |
A |
16: 13,624,468 (GRCm39) |
M433I |
probably benign |
Het |
| Serpinb9e |
G |
A |
13: 33,441,757 (GRCm39) |
V230M |
probably benign |
Het |
| Shisa6 |
T |
A |
11: 66,115,800 (GRCm39) |
H279L |
probably damaging |
Het |
| Slc38a11 |
A |
T |
2: 65,165,089 (GRCm39) |
I234N |
probably damaging |
Het |
| Socs1 |
G |
C |
16: 10,602,394 (GRCm39) |
F114L |
probably damaging |
Het |
| Ssc5d |
C |
T |
7: 4,945,743 (GRCm39) |
T925M |
possibly damaging |
Het |
| Stc1 |
T |
C |
14: 69,269,887 (GRCm39) |
S156P |
probably damaging |
Het |
| Ttc5 |
C |
G |
14: 51,015,303 (GRCm39) |
V103L |
probably damaging |
Het |
| Vmn1r73 |
A |
G |
7: 11,490,538 (GRCm39) |
T119A |
probably benign |
Het |
| Vmn2r99 |
G |
A |
17: 19,599,242 (GRCm39) |
D309N |
probably benign |
Het |
| Vps53 |
T |
C |
11: 75,957,693 (GRCm39) |
H353R |
possibly damaging |
Het |
| Ythdf3 |
T |
A |
3: 16,257,356 (GRCm39) |
Y47* |
probably null |
Het |
| Zfp276 |
T |
C |
8: 123,994,562 (GRCm39) |
M543T |
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 |
|
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 |
|
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'- GGAGCAGAGTATCACATCTGACC -3'
(R):5'- TTCTCTCAGGGTAACGCTGAC -3'
Sequencing Primer
(F):5'- TCACATCTGACCATGATGAGGTC -3'
(R):5'- CAGCCGGTCCAAACCAG -3'
|
| Posted On |
2017-07-14 |
Incidental Mutation