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 |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R1653 (G1)
|
Quality Score |
225 |
Status
|
Not validated
|
Chromosome |
8 |
Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 73468147 bp (GRCm39)
|
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 |
Adam34 |
A |
T |
8: 44,103,682 (GRCm39) |
C654* |
probably null |
Het |
Adamts19 |
T |
A |
18: 59,023,365 (GRCm39) |
N253K |
probably benign |
Het |
Adgrb3 |
A |
G |
1: 25,140,584 (GRCm39) |
L1162S |
probably benign |
Het |
Ap2b1 |
T |
A |
11: 83,237,657 (GRCm39) |
Y574N |
probably damaging |
Het |
Atrn |
A |
G |
2: 130,777,544 (GRCm39) |
I198V |
probably benign |
Het |
Bcan |
T |
A |
3: 87,901,503 (GRCm39) |
I400F |
probably damaging |
Het |
Capn10 |
A |
G |
1: 92,874,620 (GRCm39) |
Y617C |
probably damaging |
Het |
Capn8 |
A |
G |
1: 182,451,516 (GRCm39) |
N578D |
probably benign |
Het |
Casd1 |
T |
C |
6: 4,624,134 (GRCm39) |
L309P |
probably benign |
Het |
Ccser1 |
T |
A |
6: 61,288,449 (GRCm39) |
I204K |
probably benign |
Het |
Cd276 |
T |
C |
9: 58,444,732 (GRCm39) |
T80A |
probably benign |
Het |
Cdh3 |
T |
C |
8: 107,265,700 (GRCm39) |
S248P |
probably damaging |
Het |
Celsr2 |
T |
C |
3: 108,320,836 (GRCm39) |
T659A |
possibly damaging |
Het |
Col6a4 |
C |
T |
9: 105,949,608 (GRCm39) |
V676I |
probably damaging |
Het |
Crmp1 |
T |
A |
5: 37,443,812 (GRCm39) |
V575D |
probably damaging |
Het |
Ep400 |
G |
A |
5: 110,841,040 (GRCm39) |
Q1795* |
probably null |
Het |
Gcnt3 |
A |
G |
9: 69,942,359 (GRCm39) |
C70R |
probably damaging |
Het |
Gm12258 |
T |
C |
11: 58,749,113 (GRCm39) |
I96T |
possibly damaging |
Het |
Gpr183 |
A |
G |
14: 122,191,675 (GRCm39) |
F282S |
probably damaging |
Het |
Igfals |
T |
C |
17: 25,100,052 (GRCm39) |
V381A |
probably benign |
Het |
Irs3 |
C |
A |
5: 137,642,783 (GRCm39) |
L218F |
probably damaging |
Het |
Kdm5b |
T |
C |
1: 134,530,219 (GRCm39) |
F410S |
probably damaging |
Het |
Klc4 |
T |
C |
17: 46,942,785 (GRCm39) |
Y593C |
possibly damaging |
Het |
Lce1h |
T |
A |
3: 92,670,750 (GRCm39) |
Q134L |
unknown |
Het |
Lyst |
T |
C |
13: 13,809,811 (GRCm39) |
S494P |
probably damaging |
Het |
Marchf3 |
A |
G |
18: 56,944,967 (GRCm39) |
M42T |
probably benign |
Het |
Myh7 |
A |
G |
14: 55,228,246 (GRCm39) |
I250T |
probably benign |
Het |
N4bp1 |
G |
T |
8: 87,571,576 (GRCm39) |
H807Q |
probably benign |
Het |
Ndn |
C |
T |
7: 61,998,256 (GRCm39) |
P34L |
probably benign |
Het |
Nfs1 |
C |
T |
2: 155,967,256 (GRCm39) |
G44D |
probably damaging |
Het |
Nrg1 |
C |
T |
8: 32,308,681 (GRCm39) |
R445H |
probably damaging |
Het |
Or14c43 |
T |
C |
7: 86,115,420 (GRCm39) |
V267A |
probably benign |
Het |
Or4e5 |
A |
T |
14: 52,728,229 (GRCm39) |
F64Y |
probably damaging |
Het |
Or56a5 |
T |
A |
7: 104,793,077 (GRCm39) |
D141V |
possibly damaging |
Het |
Pak5 |
C |
T |
2: 135,958,807 (GRCm39) |
V94M |
probably damaging |
Het |
Pdk1 |
G |
A |
2: 71,719,339 (GRCm39) |
|
probably null |
Het |
Sirt1 |
T |
C |
10: 63,157,588 (GRCm39) |
T609A |
probably benign |
Het |
Skint5 |
A |
T |
4: 113,347,875 (GRCm39) |
S1289T |
unknown |
Het |
Slc32a1 |
A |
T |
2: 158,456,809 (GRCm39) |
H488L |
probably benign |
Het |
Slc35b3 |
A |
G |
13: 39,139,774 (GRCm39) |
S18P |
probably benign |
Het |
Spaca7 |
T |
A |
8: 12,636,501 (GRCm39) |
I109K |
possibly damaging |
Het |
Tmem204 |
A |
G |
17: 25,299,501 (GRCm39) |
L6P |
possibly damaging |
Het |
Tubgcp6 |
G |
A |
15: 88,991,645 (GRCm39) |
R651C |
probably damaging |
Het |
Vps13b |
T |
A |
15: 35,607,418 (GRCm39) |
L1117* |
probably null |
Het |
Wdcp |
T |
C |
12: 4,901,815 (GRCm39) |
L557P |
probably damaging |
Het |
Wwp2 |
T |
C |
8: 108,210,042 (GRCm39) |
F140S |
possibly damaging |
Het |
Zfp429 |
C |
T |
13: 67,538,043 (GRCm39) |
R467H |
possibly damaging |
Het |
Zfp747l1 |
G |
T |
7: 126,983,652 (GRCm39) |
H483Q |
possibly damaging |
Het |
Zfp839 |
T |
A |
12: 110,821,684 (GRCm39) |
M166K |
probably benign |
Het |
Zfyve9 |
G |
A |
4: 108,517,774 (GRCm39) |
Q1106* |
probably null |
Het |
Zrsr2-ps1 |
T |
A |
11: 22,924,158 (GRCm39) |
C311S |
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 |
R1524:Sin3b
|
UTSW |
8 |
73,479,915 (GRCm39) |
missense |
probably benign |
0.05 |
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'- GTAAGTGTCCTCAGCACCAGGTTC -3'
(R):5'- GCACCAGGCAGAAGCCTCATAAATG -3'
Sequencing Primer
(F):5'- CTCACACAAGGCCAAGGAGG -3'
(R):5'- TGTGCATGACCCTGAACTG -3'
|
Posted On |
2014-05-09 |