Incidental Mutation 'R1524:Sin3b'
ID |
167720 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sin3b
|
Ensembl Gene |
ENSMUSG00000031622 |
Gene Name |
transcriptional regulator, SIN3B (yeast) |
Synonyms |
2810430C10Rik |
MMRRC Submission |
039565-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1524 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73479915 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Threonine to Alanine
at position 874
(T874A)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
|
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: T874A
PolyPhen 2
Score 0.052 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000004494 Gene: ENSMUSG00000031622 AA Change: T874A
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 |
noncoding transcript
Transcript: ENSMUST00000212256
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000212677
|
Meta Mutation Damage Score |
0.0592 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.5%
|
Validation Efficiency |
97% (68/70) |
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: 67 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
2310003L06Rik |
G |
T |
5: 88,119,548 (GRCm39) |
V102L |
probably benign |
Het |
Adck1 |
T |
C |
12: 88,368,854 (GRCm39) |
Y111H |
probably damaging |
Het |
Adcy10 |
G |
T |
1: 165,345,972 (GRCm39) |
K340N |
probably damaging |
Het |
Aebp1 |
T |
C |
11: 5,820,089 (GRCm39) |
V355A |
probably damaging |
Het |
Atp2b2 |
T |
C |
6: 113,751,162 (GRCm39) |
|
probably benign |
Het |
Atrn |
T |
C |
2: 130,799,000 (GRCm39) |
V390A |
probably benign |
Het |
Bpifc |
T |
A |
10: 85,813,599 (GRCm39) |
Q315L |
probably benign |
Het |
C1qtnf6 |
T |
G |
15: 78,409,092 (GRCm39) |
|
probably null |
Het |
Cab39l |
A |
G |
14: 59,757,186 (GRCm39) |
|
probably benign |
Het |
Capn12 |
T |
A |
7: 28,582,189 (GRCm39) |
|
probably benign |
Het |
Ceacam18 |
A |
C |
7: 43,288,779 (GRCm39) |
T177P |
possibly damaging |
Het |
Ces5a |
A |
T |
8: 94,252,293 (GRCm39) |
F200I |
probably damaging |
Het |
Cldn19 |
G |
T |
4: 119,114,248 (GRCm39) |
|
probably null |
Het |
Cntnap2 |
A |
G |
6: 46,507,613 (GRCm39) |
S46P |
probably damaging |
Het |
Dchs1 |
A |
G |
7: 105,413,732 (GRCm39) |
Y1028H |
probably damaging |
Het |
Exd1 |
A |
T |
2: 119,355,155 (GRCm39) |
F253L |
probably damaging |
Het |
Fam161a |
A |
G |
11: 22,965,826 (GRCm39) |
N40D |
possibly damaging |
Het |
Fam81a |
A |
T |
9: 70,032,390 (GRCm39) |
I34N |
probably damaging |
Het |
Fchsd1 |
A |
C |
18: 38,098,950 (GRCm39) |
|
probably null |
Het |
Fut11 |
T |
A |
14: 20,746,234 (GRCm39) |
F359I |
possibly damaging |
Het |
Fut7 |
T |
C |
2: 25,315,159 (GRCm39) |
V92A |
probably damaging |
Het |
Grid2 |
C |
G |
6: 64,406,738 (GRCm39) |
F699L |
possibly damaging |
Het |
Grin2a |
A |
G |
16: 9,481,467 (GRCm39) |
S445P |
possibly damaging |
Het |
H2al2b |
A |
C |
Y: 2,720,391 (GRCm39) |
F95C |
probably damaging |
Het |
Hecw2 |
T |
C |
1: 53,890,777 (GRCm39) |
D1246G |
probably damaging |
Het |
Ifit1 |
A |
G |
19: 34,625,032 (GRCm39) |
N56S |
probably damaging |
Het |
Ldb3 |
C |
A |
14: 34,277,313 (GRCm39) |
V354L |
probably benign |
Het |
Lrig2 |
T |
C |
3: 104,371,192 (GRCm39) |
Y479C |
probably benign |
Het |
Ltn1 |
A |
G |
16: 87,178,444 (GRCm39) |
V1595A |
probably damaging |
Het |
Macf1 |
A |
G |
4: 123,326,323 (GRCm39) |
V2939A |
possibly damaging |
Het |
Mapre3 |
T |
G |
5: 31,019,261 (GRCm39) |
I35S |
probably damaging |
Het |
Med16 |
A |
T |
10: 79,734,150 (GRCm39) |
L588Q |
probably damaging |
Het |
Ncapg2 |
T |
C |
12: 116,398,198 (GRCm39) |
|
probably benign |
Het |
Ncstn |
C |
A |
1: 171,899,716 (GRCm39) |
R322L |
possibly damaging |
Het |
Ndst1 |
A |
T |
18: 60,831,576 (GRCm39) |
I594N |
probably damaging |
Het |
Ndst3 |
A |
G |
3: 123,342,555 (GRCm39) |
I752T |
possibly damaging |
Het |
Obscn |
G |
T |
11: 59,006,681 (GRCm39) |
S1185R |
probably damaging |
Het |
Or5b112 |
T |
A |
19: 13,319,486 (GRCm39) |
C121* |
probably null |
Het |
Or6aa1 |
A |
G |
7: 86,044,020 (GRCm39) |
S229P |
probably benign |
Het |
Or9q1 |
A |
T |
19: 13,805,679 (GRCm39) |
L27H |
probably damaging |
Het |
Otof |
T |
A |
5: 30,536,900 (GRCm39) |
D1285V |
probably benign |
Het |
Pcnx2 |
A |
G |
8: 126,617,880 (GRCm39) |
I125T |
probably benign |
Het |
Pde4a |
T |
C |
9: 21,112,543 (GRCm39) |
S240P |
probably damaging |
Het |
Pi15 |
T |
C |
1: 17,690,076 (GRCm39) |
S126P |
probably benign |
Het |
Pkhd1 |
T |
C |
1: 20,188,004 (GRCm39) |
S3435G |
probably damaging |
Het |
Plin1 |
C |
A |
7: 79,376,338 (GRCm39) |
V133L |
probably benign |
Het |
Pnpt1 |
T |
A |
11: 29,080,776 (GRCm39) |
C7S |
unknown |
Het |
Ppp3ca |
A |
T |
3: 136,503,579 (GRCm39) |
M51L |
probably benign |
Het |
Primpol |
G |
T |
8: 47,039,502 (GRCm39) |
|
probably benign |
Het |
Prlr |
T |
C |
15: 10,319,419 (GRCm39) |
V116A |
probably damaging |
Het |
Ptgr3 |
A |
G |
18: 84,112,831 (GRCm39) |
E169G |
probably benign |
Het |
Rnf139 |
A |
G |
15: 58,761,266 (GRCm39) |
D35G |
probably damaging |
Het |
Rsbn1l |
T |
A |
5: 21,156,671 (GRCm39) |
K38M |
probably damaging |
Het |
Ryr3 |
T |
A |
2: 112,699,427 (GRCm39) |
I888F |
probably damaging |
Het |
Sec16a |
C |
A |
2: 26,318,394 (GRCm39) |
V1566F |
probably damaging |
Het |
Skic3 |
T |
A |
13: 76,286,491 (GRCm39) |
D891E |
probably benign |
Het |
Slc5a5 |
A |
C |
8: 71,344,978 (GRCm39) |
Y110D |
probably damaging |
Het |
Smarcd2 |
C |
T |
11: 106,157,978 (GRCm39) |
V97I |
probably benign |
Het |
St6galnac2 |
G |
A |
11: 116,575,313 (GRCm39) |
|
probably benign |
Het |
Tbc1d22b |
T |
C |
17: 29,789,585 (GRCm39) |
L149P |
probably damaging |
Het |
Tekt2 |
T |
C |
4: 126,217,442 (GRCm39) |
I208V |
probably benign |
Het |
Tenm3 |
A |
G |
8: 48,682,016 (GRCm39) |
I2522T |
possibly damaging |
Het |
Ttll5 |
T |
A |
12: 85,911,342 (GRCm39) |
Y233* |
probably null |
Het |
Vcpip1 |
C |
T |
1: 9,794,727 (GRCm39) |
E1215K |
probably damaging |
Het |
Wdr4 |
T |
C |
17: 31,728,737 (GRCm39) |
|
probably benign |
Het |
Zfp703 |
G |
A |
8: 27,469,401 (GRCm39) |
G355D |
probably damaging |
Het |
Zfp830 |
T |
A |
11: 82,655,794 (GRCm39) |
D199E |
probably damaging |
Het |
|
Other mutations in Sin3b |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00586:Sin3b
|
APN |
8 |
73,483,628 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01107:Sin3b
|
APN |
8 |
73,457,733 (GRCm39) |
missense |
possibly damaging |
0.74 |
IGL01114:Sin3b
|
APN |
8 |
73,471,133 (GRCm39) |
missense |
probably benign |
0.06 |
IGL01603:Sin3b
|
APN |
8 |
73,476,692 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01763:Sin3b
|
APN |
8 |
73,473,236 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02078:Sin3b
|
APN |
8 |
73,480,208 (GRCm39) |
missense |
possibly damaging |
0.49 |
IGL02572:Sin3b
|
APN |
8 |
73,471,109 (GRCm39) |
missense |
probably benign |
0.15 |
IGL02732:Sin3b
|
APN |
8 |
73,460,081 (GRCm39) |
missense |
possibly damaging |
0.72 |
IGL02831:Sin3b
|
APN |
8 |
73,471,190 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03064:Sin3b
|
APN |
8 |
73,483,686 (GRCm39) |
unclassified |
probably benign |
|
IGL03107:Sin3b
|
APN |
8 |
73,480,213 (GRCm39) |
missense |
probably damaging |
0.99 |
IGL03142:Sin3b
|
APN |
8 |
73,471,196 (GRCm39) |
missense |
probably damaging |
1.00 |
3-1:Sin3b
|
UTSW |
8 |
73,479,837 (GRCm39) |
missense |
possibly damaging |
0.95 |
R0070:Sin3b
|
UTSW |
8 |
73,452,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R0070:Sin3b
|
UTSW |
8 |
73,452,210 (GRCm39) |
missense |
probably damaging |
1.00 |
R0226:Sin3b
|
UTSW |
8 |
73,471,136 (GRCm39) |
missense |
probably benign |
0.44 |
R0629:Sin3b
|
UTSW |
8 |
73,480,164 (GRCm39) |
splice site |
probably benign |
|
R1486:Sin3b
|
UTSW |
8 |
73,477,141 (GRCm39) |
missense |
probably benign |
0.00 |
R1653:Sin3b
|
UTSW |
8 |
73,468,147 (GRCm39) |
missense |
probably benign |
0.30 |
R2144:Sin3b
|
UTSW |
8 |
73,457,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R2180:Sin3b
|
UTSW |
8 |
73,479,923 (GRCm39) |
nonsense |
probably null |
|
R2271:Sin3b
|
UTSW |
8 |
73,460,047 (GRCm39) |
missense |
probably benign |
0.11 |
R2353:Sin3b
|
UTSW |
8 |
73,450,780 (GRCm39) |
critical splice donor site |
probably null |
|
R3945:Sin3b
|
UTSW |
8 |
73,460,067 (GRCm39) |
missense |
possibly damaging |
0.88 |
R4412:Sin3b
|
UTSW |
8 |
73,466,407 (GRCm39) |
missense |
probably benign |
0.16 |
R4564:Sin3b
|
UTSW |
8 |
73,480,209 (GRCm39) |
missense |
probably damaging |
1.00 |
R4782:Sin3b
|
UTSW |
8 |
73,452,271 (GRCm39) |
missense |
probably benign |
0.04 |
R4799:Sin3b
|
UTSW |
8 |
73,452,271 (GRCm39) |
missense |
probably benign |
0.04 |
R4863:Sin3b
|
UTSW |
8 |
73,471,576 (GRCm39) |
missense |
possibly damaging |
0.91 |
R5011:Sin3b
|
UTSW |
8 |
73,471,184 (GRCm39) |
missense |
probably benign |
0.39 |
R5237:Sin3b
|
UTSW |
8 |
73,459,971 (GRCm39) |
critical splice acceptor site |
probably null |
|
R5325:Sin3b
|
UTSW |
8 |
73,477,154 (GRCm39) |
missense |
probably damaging |
1.00 |
R5725:Sin3b
|
UTSW |
8 |
73,452,320 (GRCm39) |
critical splice donor site |
probably null |
|
R5927:Sin3b
|
UTSW |
8 |
73,476,506 (GRCm39) |
missense |
probably benign |
0.00 |
R5945:Sin3b
|
UTSW |
8 |
73,457,793 (GRCm39) |
missense |
probably damaging |
0.97 |
R6492:Sin3b
|
UTSW |
8 |
73,460,118 (GRCm39) |
critical splice donor site |
probably null |
|
R7092:Sin3b
|
UTSW |
8 |
73,474,498 (GRCm39) |
critical splice donor site |
probably null |
|
R7106:Sin3b
|
UTSW |
8 |
73,450,765 (GRCm39) |
missense |
possibly damaging |
0.90 |
R7258:Sin3b
|
UTSW |
8 |
73,476,836 (GRCm39) |
missense |
probably benign |
0.00 |
R7472:Sin3b
|
UTSW |
8 |
73,479,853 (GRCm39) |
missense |
probably damaging |
1.00 |
R7475:Sin3b
|
UTSW |
8 |
73,476,500 (GRCm39) |
missense |
possibly damaging |
0.47 |
R7491:Sin3b
|
UTSW |
8 |
73,473,069 (GRCm39) |
missense |
probably damaging |
1.00 |
R7636:Sin3b
|
UTSW |
8 |
73,474,362 (GRCm39) |
nonsense |
probably null |
|
R8063:Sin3b
|
UTSW |
8 |
73,452,169 (GRCm39) |
missense |
probably damaging |
1.00 |
R8354:Sin3b
|
UTSW |
8 |
73,468,108 (GRCm39) |
missense |
probably benign |
|
R8454:Sin3b
|
UTSW |
8 |
73,468,108 (GRCm39) |
missense |
probably benign |
|
R8711:Sin3b
|
UTSW |
8 |
73,450,026 (GRCm39) |
missense |
probably damaging |
0.97 |
R8719:Sin3b
|
UTSW |
8 |
73,450,139 (GRCm39) |
missense |
unknown |
|
R8807:Sin3b
|
UTSW |
8 |
73,476,708 (GRCm39) |
missense |
probably benign |
0.00 |
R8857:Sin3b
|
UTSW |
8 |
73,483,523 (GRCm39) |
missense |
probably benign |
|
R8924:Sin3b
|
UTSW |
8 |
73,473,131 (GRCm39) |
missense |
probably benign |
0.05 |
R9035:Sin3b
|
UTSW |
8 |
73,450,092 (GRCm39) |
missense |
unknown |
|
R9127:Sin3b
|
UTSW |
8 |
73,460,034 (GRCm39) |
missense |
possibly damaging |
0.70 |
R9272:Sin3b
|
UTSW |
8 |
73,471,168 (GRCm39) |
missense |
probably benign |
0.02 |
R9455:Sin3b
|
UTSW |
8 |
73,450,681 (GRCm39) |
missense |
possibly damaging |
0.56 |
R9641:Sin3b
|
UTSW |
8 |
73,477,187 (GRCm39) |
missense |
probably damaging |
1.00 |
X0017:Sin3b
|
UTSW |
8 |
73,457,793 (GRCm39) |
missense |
probably damaging |
0.97 |
|
Predicted Primers |
PCR Primer
(F):5'- GTATAAGCGTCTTCAGGGATGGCAG -3'
(R):5'- TGTAGAGGACAGGAACAGACTCACC -3'
Sequencing Primer
(F):5'- TGTACCTGAATGAGCAGCAG -3'
(R):5'- ATGGTCTGAGCTGCCATCAATC -3'
|
Posted On |
2014-04-13 |