Incidental Mutation 'R7572:Rcor3'
| ID |
586060 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Rcor3
|
| Ensembl Gene |
ENSMUSG00000037395 |
| Gene Name |
REST corepressor 3 |
| Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
| MMRRC Submission |
045658-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.695)
|
| Stock # |
R7572 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
1 |
| Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 191822173 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glycine to Valine
at position 8
(G8V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106473
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192491]
[ENSMUST00000192866]
[ENSMUST00000193144]
|
| AlphaFold |
Q6PGA0 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000073279
AA Change: G8V
|
| SMART Domains |
Protein: ENSMUSP00000073004
Gene: ENSMUSG00000037395
AA Change: G8V
| 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 damaging
Transcript: ENSMUST00000110849
AA Change: G8V
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106473
Gene: ENSMUSG00000037395
AA Change: G8V
| 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 damaging
Transcript: ENSMUST00000192128
AA Change: G8V
PolyPhen 2
Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141637
Gene: ENSMUSG00000037395
AA Change: G8V
| 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 |
unknown
Transcript: ENSMUST00000192158
AA Change: G8V
|
| SMART Domains |
Protein: ENSMUSP00000141841
Gene: ENSMUSG00000037395
AA Change: G8V
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
17 |
36 |
N/A |
INTRINSIC |
|
ELM2
|
57 |
98 |
6.6e-6 |
SMART |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000192491
AA Change: G8V
PolyPhen 2
Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000141753
Gene: ENSMUSG00000037395
AA Change: G8V
| 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 damaging
Transcript: ENSMUST00000192866
AA Change: G8V
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000142054
Gene: ENSMUSG00000037395
AA Change: G8V
| 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 |
|
| Meta Mutation Damage Score |
0.0801 |
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.1%
|
| Validation Efficiency |
95% (56/59) |
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 61 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700129C05Rik |
T |
A |
14: 59,380,128 (GRCm39) |
T57S |
possibly damaging |
Het |
| Adamts1 |
A |
G |
16: 85,594,629 (GRCm39) |
Y670H |
possibly damaging |
Het |
| Akr1b7 |
A |
T |
6: 34,396,343 (GRCm39) |
I185F |
probably damaging |
Het |
| Ankfn1 |
T |
C |
11: 89,312,097 (GRCm39) |
N683D |
probably benign |
Het |
| Bach1 |
G |
A |
16: 87,516,179 (GRCm39) |
R240Q |
probably benign |
Het |
| Chrna5 |
T |
A |
9: 54,913,749 (GRCm39) |
W432R |
probably damaging |
Het |
| Chrng |
T |
A |
1: 87,136,836 (GRCm39) |
L235Q |
probably damaging |
Het |
| Ciao1 |
A |
T |
2: 127,088,631 (GRCm39) |
C97* |
probably null |
Het |
| Cpt2 |
G |
T |
4: 107,764,745 (GRCm39) |
H340N |
probably damaging |
Het |
| Dmtn |
A |
T |
14: 70,842,777 (GRCm39) |
M328K |
possibly damaging |
Het |
| Dusp10 |
T |
A |
1: 183,806,506 (GRCm39) |
V413E |
probably damaging |
Het |
| Epha3 |
A |
T |
16: 63,431,443 (GRCm39) |
L487* |
probably null |
Het |
| Esco2 |
A |
G |
14: 66,068,641 (GRCm39) |
V223A |
probably damaging |
Het |
| Fryl |
A |
T |
5: 73,245,739 (GRCm39) |
D1139E |
possibly damaging |
Het |
| Gemin4 |
A |
G |
11: 76,104,408 (GRCm39) |
S118P |
probably damaging |
Het |
| Gm3604 |
A |
G |
13: 62,518,060 (GRCm39) |
I79T |
probably damaging |
Het |
| Gpatch3 |
T |
C |
4: 133,302,117 (GRCm39) |
V16A |
probably benign |
Het |
| Hcn4 |
A |
G |
9: 58,731,063 (GRCm39) |
N90S |
unknown |
Het |
| Hr |
C |
T |
14: 70,799,293 (GRCm39) |
H593Y |
possibly damaging |
Het |
| Igkv4-50 |
A |
G |
6: 69,677,951 (GRCm39) |
V51A |
probably damaging |
Het |
| Insr |
C |
A |
8: 3,223,602 (GRCm39) |
V844F |
probably benign |
Het |
| Iqcn |
T |
C |
8: 71,162,075 (GRCm39) |
S423P |
probably benign |
Het |
| Kcns2 |
T |
C |
15: 34,839,318 (GRCm39) |
F227S |
possibly damaging |
Het |
| Map4k1 |
A |
G |
7: 28,686,563 (GRCm39) |
I162V |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,291,468 (GRCm39) |
S1157G |
probably benign |
Het |
| Neurog2 |
A |
G |
3: 127,427,550 (GRCm39) |
E58G |
probably damaging |
Het |
| Or4x6 |
T |
C |
2: 89,949,087 (GRCm39) |
Y285C |
probably damaging |
Het |
| Or5h25 |
T |
A |
16: 58,930,793 (GRCm39) |
Y60F |
probably damaging |
Het |
| Or7e174 |
T |
G |
9: 20,012,154 (GRCm39) |
L33W |
probably damaging |
Het |
| Orc4 |
A |
T |
2: 48,800,248 (GRCm39) |
M300K |
probably benign |
Het |
| Plch1 |
T |
C |
3: 63,648,105 (GRCm39) |
D422G |
possibly damaging |
Het |
| Prox1 |
T |
C |
1: 189,855,583 (GRCm39) |
E683G |
probably benign |
Het |
| Pxdn |
A |
G |
12: 30,056,704 (GRCm39) |
D1305G |
probably damaging |
Het |
| Rex2 |
T |
G |
4: 147,142,329 (GRCm39) |
I272M |
probably damaging |
Het |
| Rpa2 |
T |
C |
4: 132,496,014 (GRCm39) |
S12P |
possibly damaging |
Het |
| Samd15 |
C |
A |
12: 87,248,350 (GRCm39) |
P345Q |
probably damaging |
Het |
| Sema5a |
T |
A |
15: 32,673,574 (GRCm39) |
I804N |
probably damaging |
Het |
| Sgsm3 |
G |
A |
15: 80,891,667 (GRCm39) |
R165H |
possibly damaging |
Het |
| Slc22a30 |
T |
G |
19: 8,313,072 (GRCm39) |
M467L |
unknown |
Het |
| Slc2a5 |
T |
C |
4: 150,226,642 (GRCm39) |
I368T |
probably benign |
Het |
| Slc8a1 |
A |
T |
17: 81,749,200 (GRCm39) |
|
probably null |
Het |
| Snap91 |
T |
C |
9: 86,688,547 (GRCm39) |
T331A |
possibly damaging |
Het |
| Soat2 |
G |
T |
15: 102,062,456 (GRCm39) |
|
probably null |
Het |
| Sptbn4 |
C |
A |
7: 27,071,697 (GRCm39) |
R1589L |
probably damaging |
Het |
| Stk38l |
A |
G |
6: 146,677,152 (GRCm39) |
Y443C |
probably damaging |
Het |
| Sult5a1 |
T |
C |
8: 123,872,117 (GRCm39) |
I242V |
probably benign |
Het |
| Susd3 |
T |
C |
13: 49,384,638 (GRCm39) |
R262G |
probably benign |
Het |
| Syt9 |
A |
G |
7: 107,035,784 (GRCm39) |
D267G |
probably damaging |
Het |
| Tbce |
A |
G |
13: 14,185,172 (GRCm39) |
V172A |
probably benign |
Het |
| Tcstv3 |
A |
T |
13: 120,779,107 (GRCm39) |
D2V |
possibly damaging |
Het |
| Tmod1 |
T |
A |
4: 46,083,593 (GRCm39) |
S7R |
possibly damaging |
Het |
| Ubqln4 |
C |
T |
3: 88,462,731 (GRCm39) |
|
probably benign |
Het |
| Ucp2 |
T |
C |
7: 100,146,514 (GRCm39) |
|
probably null |
Het |
| Usp30 |
G |
A |
5: 114,258,308 (GRCm39) |
S306N |
probably benign |
Het |
| Usp5 |
A |
T |
6: 124,794,970 (GRCm39) |
I660N |
probably damaging |
Het |
| Vmn1r43 |
A |
G |
6: 89,846,547 (GRCm39) |
V313A |
possibly damaging |
Het |
| Wdr49 |
T |
C |
3: 75,265,744 (GRCm39) |
H234R |
possibly damaging |
Het |
| Wdr70 |
T |
C |
15: 8,065,327 (GRCm39) |
D245G |
possibly damaging |
Het |
| Zc3h6 |
A |
G |
2: 128,859,172 (GRCm39) |
K1068E |
probably benign |
Het |
| Zfp141 |
T |
C |
7: 42,124,856 (GRCm39) |
K539E |
probably benign |
Het |
| Zfp758 |
T |
A |
17: 22,593,872 (GRCm39) |
H119Q |
possibly 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 |
|
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 |
|
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'- AAGGCAGAGACTCTCCAGCC -3'
(R):5'- CTTCAGCTGAGACAGGGCAG -3'
Sequencing Primer
(F):5'- CTCTCCAGCCGCGGGAG -3'
(R):5'- TCCCTAGGGCGGAGTGATC -3'
|
| Posted On |
2019-10-24 |
Incidental Mutation