Incidental Mutation 'R7407:Rcor3'
ID |
574773 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Rcor3
|
Ensembl Gene |
ENSMUSG00000037395 |
Gene Name |
REST corepressor 3 |
Synonyms |
C730034D20Rik, E130101E15Rik, 4921514E24Rik |
MMRRC Submission |
045488-MU
|
Accession Numbers |
|
Essential gene? |
Possibly essential
(E-score: 0.695)
|
Stock # |
R7407 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
1 |
Chromosomal Location |
191782846-191822359 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 191785972 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Asparagine
at position 422
(S422N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000141637
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000073279]
[ENSMUST00000110849]
[ENSMUST00000192128]
[ENSMUST00000192158]
[ENSMUST00000192222]
[ENSMUST00000192491]
[ENSMUST00000192866]
|
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 |
probably benign
Transcript: ENSMUST00000192128
AA Change: S422N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000141637 Gene: ENSMUSG00000037395 AA Change: S422N
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
|
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 benign
Transcript: ENSMUST00000192866
AA Change: S422N
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
SMART Domains |
Protein: ENSMUSP00000142054 Gene: ENSMUSG00000037395 AA Change: S422N
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: ENSMUST00000194750
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.7%
- 20x: 99.0%
|
Validation Efficiency |
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 48 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933405O20Rik |
A |
G |
7: 50,249,626 (GRCm39) |
N220S |
probably damaging |
Het |
Abcb8 |
T |
C |
5: 24,605,674 (GRCm39) |
V186A |
probably benign |
Het |
Actbl2 |
A |
T |
13: 111,392,752 (GRCm39) |
E362D |
probably damaging |
Het |
Adamts17 |
C |
A |
7: 66,697,304 (GRCm39) |
Y28* |
probably null |
Het |
Agtr1b |
T |
C |
3: 20,369,895 (GRCm39) |
D237G |
possibly damaging |
Het |
Amer2 |
A |
G |
14: 60,616,291 (GRCm39) |
D162G |
probably damaging |
Het |
Ankub1 |
T |
C |
3: 57,572,624 (GRCm39) |
E366G |
probably benign |
Het |
Ap5z1 |
A |
G |
5: 142,452,330 (GRCm39) |
I88V |
probably benign |
Het |
Ccdc186 |
T |
C |
19: 56,801,817 (GRCm39) |
N100S |
probably benign |
Het |
Cldn19 |
A |
G |
4: 119,112,882 (GRCm39) |
D38G |
probably damaging |
Het |
Crat |
C |
T |
2: 30,294,577 (GRCm39) |
R497Q |
probably benign |
Het |
Deaf1 |
G |
A |
7: 140,877,492 (GRCm39) |
A545V |
possibly damaging |
Het |
Dicer1 |
G |
T |
12: 104,688,610 (GRCm39) |
Y322* |
probably null |
Het |
Dnajb7 |
G |
T |
15: 81,291,827 (GRCm39) |
T170K |
possibly damaging |
Het |
Flrt2 |
A |
T |
12: 95,746,074 (GRCm39) |
E137D |
probably damaging |
Het |
Galnt12 |
T |
C |
4: 47,120,362 (GRCm39) |
F482L |
probably damaging |
Het |
Gm32742 |
A |
G |
9: 51,067,974 (GRCm39) |
V336A |
probably damaging |
Het |
Gpatch8 |
G |
A |
11: 102,370,656 (GRCm39) |
R961W |
unknown |
Het |
Hcn4 |
A |
G |
9: 58,766,653 (GRCm39) |
E738G |
unknown |
Het |
Kdelr3 |
A |
G |
15: 79,409,039 (GRCm39) |
Y76C |
probably damaging |
Het |
Krt77 |
T |
C |
15: 101,768,530 (GRCm39) |
S494G |
unknown |
Het |
Letmd1 |
G |
T |
15: 100,367,119 (GRCm39) |
A39S |
probably benign |
Het |
Lrrc7 |
G |
A |
3: 157,840,878 (GRCm39) |
R1387W |
probably damaging |
Het |
Meltf |
T |
C |
16: 31,713,553 (GRCm39) |
Y599H |
probably damaging |
Het |
Mybpc1 |
T |
A |
10: 88,385,209 (GRCm39) |
I477L |
probably damaging |
Het |
Nf1 |
A |
G |
11: 79,338,969 (GRCm39) |
D1174G |
probably damaging |
Het |
Or2t6 |
T |
A |
14: 14,175,402 (GRCm38) |
I227L |
probably benign |
Het |
Or8b44 |
T |
A |
9: 38,410,800 (GRCm39) |
Y278* |
probably null |
Het |
Palld |
G |
T |
8: 61,968,975 (GRCm39) |
S1283* |
probably null |
Het |
Pcmtd2 |
T |
C |
2: 181,488,398 (GRCm39) |
V183A |
possibly damaging |
Het |
Pcsk5 |
T |
A |
19: 17,652,880 (GRCm39) |
I269F |
probably damaging |
Het |
Pkd1 |
T |
C |
17: 24,813,568 (GRCm39) |
L4036P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,458,407 (GRCm39) |
N4151S |
possibly damaging |
Het |
Rhag |
A |
G |
17: 41,142,225 (GRCm39) |
I223V |
possibly damaging |
Het |
Ssbp4 |
A |
G |
8: 71,051,672 (GRCm39) |
Y231H |
probably damaging |
Het |
Syce1l |
C |
T |
8: 114,381,770 (GRCm39) |
Q237* |
probably null |
Het |
Tenm4 |
T |
C |
7: 96,423,194 (GRCm39) |
V663A |
possibly damaging |
Het |
Timd6 |
A |
G |
11: 46,468,217 (GRCm39) |
Y97C |
probably damaging |
Het |
Trim6 |
T |
C |
7: 103,875,108 (GRCm39) |
I115T |
probably damaging |
Het |
Vinac1 |
A |
G |
2: 128,880,729 (GRCm39) |
I399T |
|
Het |
Vmn1r25 |
T |
A |
6: 57,956,044 (GRCm39) |
T82S |
possibly damaging |
Het |
Vmn2r28 |
A |
G |
7: 5,484,308 (GRCm39) |
S631P |
probably damaging |
Het |
Xpo1 |
T |
A |
11: 23,235,823 (GRCm39) |
V637E |
probably damaging |
Het |
Xpo6 |
A |
T |
7: 125,770,224 (GRCm39) |
M62K |
probably damaging |
Het |
Ypel5 |
A |
G |
17: 73,153,374 (GRCm39) |
N26S |
possibly damaging |
Het |
Zbtb24 |
C |
A |
10: 41,340,775 (GRCm39) |
Q624K |
possibly damaging |
Het |
Zfp629 |
T |
C |
7: 127,209,415 (GRCm39) |
D798G |
probably benign |
Het |
Zfp687 |
C |
T |
3: 94,914,841 (GRCm39) |
R1220H |
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 |
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 |
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'- CGAGGAAGTGTATTGTCAGCC -3'
(R):5'- TTGCTGACCCTTCACAGGTG -3'
Sequencing Primer
(F):5'- AGGAAGTGTATTGTCAGCCTTATGC -3'
(R):5'- TCCAGGTGTCCGCAAATATG -3'
|
Posted On |
2019-10-07 |