Incidental Mutation 'R1653:Sin3b'
| ID |
188859 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| MMRRC Submission |
039689-MU
|
| Accession Numbers |
Genbank: NM_009188, NM_001113248; MGI: 107158 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1653 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72723285-72758201 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 72741519 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Leucine
at position 290
(V290L)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000004494
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000109950]
[ENSMUST00000212095]
|
| AlphaFold |
Q62141 |
| PDB Structure |
STRUCTURE OF THE COMPLEX OF THE MAD1-SIN3B INTERACTION DOMAINS [SOLUTION NMR]
Extended SID of Mad1 bound to the PAH2 domain of mSin3B [SOLUTION NMR]
Solution structure of the first PAH domain of the mouse transcriptional repressor SIN3B [SOLUTION NMR]
Solution structure of the NRSF/REST-mSin3B PAH1 complex [SOLUTION NMR]
Solution structure of free PAH2 domain of mSin3B [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000004494
AA Change: V290L
PolyPhen 2
Score 0.304 (Sensitivity: 0.90; Specificity: 0.89)
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: V290L
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
53 |
97 |
2.5e-19 |
PFAM |
|
Pfam:PAH
|
173 |
227 |
4.4e-20 |
PFAM |
|
Pfam:PAH
|
313 |
357 |
1.6e-8 |
PFAM |
|
HDAC_interact
|
384 |
484 |
2.75e-58 |
SMART |
|
low complexity region
|
667 |
688 |
N/A |
INTRINSIC |
|
Pfam:Sin3a_C
|
712 |
1011 |
7.2e-81 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000109950
|
| SMART Domains |
Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
5 |
26 |
N/A |
INTRINSIC |
|
Pfam:PAH
|
53 |
97 |
3.4e-20 |
PFAM |
|
Pfam:PAH
|
173 |
227 |
5.6e-21 |
PFAM |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212095
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212435
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000213079
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.4%
- 20x: 92.7%
|
| Validation Efficiency |
|
| MGI Phenotype |
PHENOTYPE: Homozygous null mice fail to survive past P1 and exhibit pallor, fetal growth retardation, impaired terminal differentiation of erythrocytes and granulocytes, a pale liver and reduced ossification of the long bones in the hindlimb. Mutant MEFs show impaired G0 arrest upon serum deprivation. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(8) : Targeted, knock-out(1) Targeted, other(4) Gene trapped(3) |
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9130019O22Rik |
G |
T |
7: 127,384,480 (GRCm38) |
H483Q |
possibly damaging |
Het |
| Adam34 |
A |
T |
8: 43,650,645 (GRCm38) |
C654* |
probably null |
Het |
| Adamts19 |
T |
A |
18: 58,890,293 (GRCm38) |
N253K |
probably benign |
Het |
| Adgrb3 |
A |
G |
1: 25,101,503 (GRCm38) |
L1162S |
probably benign |
Het |
| Ap2b1 |
T |
A |
11: 83,346,831 (GRCm38) |
Y574N |
probably damaging |
Het |
| Atrn |
A |
G |
2: 130,935,624 (GRCm38) |
I198V |
probably benign |
Het |
| Bcan |
T |
A |
3: 87,994,196 (GRCm38) |
I400F |
probably damaging |
Het |
| Capn10 |
A |
G |
1: 92,946,898 (GRCm38) |
Y617C |
probably damaging |
Het |
| Capn8 |
A |
G |
1: 182,623,951 (GRCm38) |
N578D |
probably benign |
Het |
| Casd1 |
T |
C |
6: 4,624,134 (GRCm38) |
L309P |
probably benign |
Het |
| Ccser1 |
T |
A |
6: 61,311,465 (GRCm38) |
I204K |
probably benign |
Het |
| Cd276 |
T |
C |
9: 58,537,449 (GRCm38) |
T80A |
probably benign |
Het |
| Cdh3 |
T |
C |
8: 106,539,068 (GRCm38) |
S248P |
probably damaging |
Het |
| Celsr2 |
T |
C |
3: 108,413,520 (GRCm38) |
T659A |
possibly damaging |
Het |
| Col6a4 |
C |
T |
9: 106,072,409 (GRCm38) |
V676I |
probably damaging |
Het |
| Crmp1 |
T |
A |
5: 37,286,468 (GRCm38) |
V575D |
probably damaging |
Het |
| Ep400 |
G |
A |
5: 110,693,174 (GRCm38) |
Q1795* |
probably null |
Het |
| Gcnt3 |
A |
G |
9: 70,035,077 (GRCm38) |
C70R |
probably damaging |
Het |
| Gm12258 |
T |
C |
11: 58,858,287 (GRCm38) |
I96T |
possibly damaging |
Het |
| Gpr183 |
A |
G |
14: 121,954,263 (GRCm38) |
F282S |
probably damaging |
Het |
| Igfals |
T |
C |
17: 24,881,078 (GRCm38) |
V381A |
probably benign |
Het |
| Irs3 |
C |
A |
5: 137,644,521 (GRCm38) |
L218F |
probably damaging |
Het |
| Kdm5b |
T |
C |
1: 134,602,481 (GRCm38) |
F410S |
probably damaging |
Het |
| Klc4 |
T |
C |
17: 46,631,859 (GRCm38) |
Y593C |
possibly damaging |
Het |
| Lce1h |
T |
A |
3: 92,763,443 (GRCm38) |
Q134L |
unknown |
Het |
| Lyst |
T |
C |
13: 13,635,226 (GRCm38) |
S494P |
probably damaging |
Het |
| March3 |
A |
G |
18: 56,811,895 (GRCm38) |
M42T |
probably benign |
Het |
| Myh7 |
A |
G |
14: 54,990,789 (GRCm38) |
I250T |
probably benign |
Het |
| N4bp1 |
G |
T |
8: 86,844,948 (GRCm38) |
H807Q |
probably benign |
Het |
| Ndn |
C |
T |
7: 62,348,508 (GRCm38) |
P34L |
probably benign |
Het |
| Nfs1 |
C |
T |
2: 156,125,336 (GRCm38) |
G44D |
probably damaging |
Het |
| Nrg1 |
C |
T |
8: 31,818,653 (GRCm38) |
R445H |
probably damaging |
Het |
| Olfr1507 |
A |
T |
14: 52,490,772 (GRCm38) |
F64Y |
probably damaging |
Het |
| Olfr299 |
T |
C |
7: 86,466,212 (GRCm38) |
V267A |
probably benign |
Het |
| Olfr683 |
T |
A |
7: 105,143,870 (GRCm38) |
D141V |
possibly damaging |
Het |
| Pak7 |
C |
T |
2: 136,116,887 (GRCm38) |
V94M |
probably damaging |
Het |
| Pdk1 |
G |
A |
2: 71,888,995 (GRCm38) |
|
probably null |
Het |
| Sirt1 |
T |
C |
10: 63,321,809 (GRCm38) |
T609A |
probably benign |
Het |
| Skint5 |
A |
T |
4: 113,490,678 (GRCm38) |
S1289T |
unknown |
Het |
| Slc32a1 |
A |
T |
2: 158,614,889 (GRCm38) |
H488L |
probably benign |
Het |
| Slc35b3 |
A |
G |
13: 38,955,798 (GRCm38) |
S18P |
probably benign |
Het |
| Spaca7 |
T |
A |
8: 12,586,501 (GRCm38) |
I109K |
possibly damaging |
Het |
| Tmem204 |
A |
G |
17: 25,080,527 (GRCm38) |
L6P |
possibly damaging |
Het |
| Tubgcp6 |
G |
A |
15: 89,107,442 (GRCm38) |
R651C |
probably damaging |
Het |
| Vps13b |
T |
A |
15: 35,607,272 (GRCm38) |
L1117* |
probably null |
Het |
| Wdcp |
T |
C |
12: 4,851,815 (GRCm38) |
L557P |
probably damaging |
Het |
| Wwp2 |
T |
C |
8: 107,483,410 (GRCm38) |
F140S |
possibly damaging |
Het |
| Zfp429 |
C |
T |
13: 67,389,924 (GRCm38) |
R467H |
possibly damaging |
Het |
| Zfp839 |
T |
A |
12: 110,855,250 (GRCm38) |
M166K |
probably benign |
Het |
| Zfyve9 |
G |
A |
4: 108,660,577 (GRCm38) |
Q1106* |
probably null |
Het |
| Zrsr1 |
T |
A |
11: 22,974,158 (GRCm38) |
C311S |
probably damaging |
Het |
|
| Other mutations in Sin3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Sin3b
|
APN |
8 |
72,757,000 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01107:Sin3b
|
APN |
8 |
72,731,105 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01114:Sin3b
|
APN |
8 |
72,744,505 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01603:Sin3b
|
APN |
8 |
72,750,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01763:Sin3b
|
APN |
8 |
72,746,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02078:Sin3b
|
APN |
8 |
72,753,580 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02572:Sin3b
|
APN |
8 |
72,744,481 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02732:Sin3b
|
APN |
8 |
72,733,453 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02831:Sin3b
|
APN |
8 |
72,744,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03064:Sin3b
|
APN |
8 |
72,757,058 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03107:Sin3b
|
APN |
8 |
72,753,585 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03142:Sin3b
|
APN |
8 |
72,744,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
3-1:Sin3b
|
UTSW |
8 |
72,753,209 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0070:Sin3b
|
UTSW |
8 |
72,725,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0070:Sin3b
|
UTSW |
8 |
72,725,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Sin3b
|
UTSW |
8 |
72,744,508 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0629:Sin3b
|
UTSW |
8 |
72,753,536 (GRCm38) |
splice site |
probably benign |
|
|
R1486:Sin3b
|
UTSW |
8 |
72,750,513 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1524:Sin3b
|
UTSW |
8 |
72,753,287 (GRCm38) |
missense |
probably benign |
0.05 |
|
R2144:Sin3b
|
UTSW |
8 |
72,731,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2180:Sin3b
|
UTSW |
8 |
72,753,295 (GRCm38) |
nonsense |
probably null |
|
|
R2271:Sin3b
|
UTSW |
8 |
72,733,419 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2353:Sin3b
|
UTSW |
8 |
72,724,152 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3945:Sin3b
|
UTSW |
8 |
72,733,439 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4412:Sin3b
|
UTSW |
8 |
72,739,779 (GRCm38) |
missense |
probably benign |
0.16 |
|
R4564:Sin3b
|
UTSW |
8 |
72,753,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4782:Sin3b
|
UTSW |
8 |
72,725,643 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4799:Sin3b
|
UTSW |
8 |
72,725,643 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4863:Sin3b
|
UTSW |
8 |
72,744,948 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5011:Sin3b
|
UTSW |
8 |
72,744,556 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5237:Sin3b
|
UTSW |
8 |
72,733,343 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5325:Sin3b
|
UTSW |
8 |
72,750,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5725:Sin3b
|
UTSW |
8 |
72,725,692 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5927:Sin3b
|
UTSW |
8 |
72,749,878 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5945:Sin3b
|
UTSW |
8 |
72,731,165 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6492:Sin3b
|
UTSW |
8 |
72,733,490 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7092:Sin3b
|
UTSW |
8 |
72,747,870 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7106:Sin3b
|
UTSW |
8 |
72,724,137 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7258:Sin3b
|
UTSW |
8 |
72,750,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7472:Sin3b
|
UTSW |
8 |
72,753,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7475:Sin3b
|
UTSW |
8 |
72,749,872 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7491:Sin3b
|
UTSW |
8 |
72,746,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Sin3b
|
UTSW |
8 |
72,747,734 (GRCm38) |
nonsense |
probably null |
|
|
R8063:Sin3b
|
UTSW |
8 |
72,725,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8354:Sin3b
|
UTSW |
8 |
72,741,480 (GRCm38) |
missense |
probably benign |
|
|
R8454:Sin3b
|
UTSW |
8 |
72,741,480 (GRCm38) |
missense |
probably benign |
|
|
R8711:Sin3b
|
UTSW |
8 |
72,723,398 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8719:Sin3b
|
UTSW |
8 |
72,723,511 (GRCm38) |
missense |
unknown |
|
|
R8807:Sin3b
|
UTSW |
8 |
72,750,080 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8857:Sin3b
|
UTSW |
8 |
72,756,895 (GRCm38) |
missense |
probably benign |
|
|
R8924:Sin3b
|
UTSW |
8 |
72,746,503 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9035:Sin3b
|
UTSW |
8 |
72,723,464 (GRCm38) |
missense |
unknown |
|
|
R9127:Sin3b
|
UTSW |
8 |
72,733,406 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9272:Sin3b
|
UTSW |
8 |
72,744,540 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9455:Sin3b
|
UTSW |
8 |
72,724,053 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9641:Sin3b
|
UTSW |
8 |
72,750,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0017:Sin3b
|
UTSW |
8 |
72,731,165 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAAGTGTCCTCAGCACCAGGTTC -3'
(R):5'- GCACCAGGCAGAAGCCTCATAAATG -3'
Sequencing Primer
(F):5'- CTCACACAAGGCCAAGGAGG -3'
(R):5'- TGTGCATGACCCTGAACTG -3'
|
| Posted On |
2014-05-09 |
Incidental Mutation