Incidental Mutation 'IGL02572:Sin3b'
| ID |
299062 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
IGL02572
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
8 |
| Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 73471109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Arginine
at position 352
(Q352R)
|
| 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: Q352R
PolyPhen 2
Score 0.151 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: Q352R
| 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 |
|
| 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: 55 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A630001G21Rik |
T |
C |
1: 85,652,892 (GRCm39) |
N92S |
probably damaging |
Het |
| Abca2 |
T |
C |
2: 25,323,329 (GRCm39) |
L99P |
possibly damaging |
Het |
| Adam19 |
T |
A |
11: 46,022,548 (GRCm39) |
Y500* |
probably null |
Het |
| Amy1 |
A |
T |
3: 113,358,722 (GRCm39) |
|
probably benign |
Het |
| Aox3 |
T |
C |
1: 58,197,526 (GRCm39) |
I624T |
probably damaging |
Het |
| Atad3a |
C |
T |
4: 155,838,041 (GRCm39) |
D244N |
possibly damaging |
Het |
| Atp5mf |
C |
A |
5: 145,124,047 (GRCm39) |
|
probably benign |
Het |
| Bbof1 |
G |
A |
12: 84,475,139 (GRCm39) |
D443N |
probably damaging |
Het |
| Bod1l |
G |
A |
5: 41,978,573 (GRCm39) |
Q914* |
probably null |
Het |
| C330011M18Rik |
A |
G |
8: 84,793,208 (GRCm39) |
|
probably benign |
Het |
| Cgref1 |
A |
G |
5: 31,090,911 (GRCm39) |
V301A |
probably benign |
Het |
| Coa6 |
T |
C |
8: 127,149,480 (GRCm39) |
Y19H |
probably damaging |
Het |
| Cop1 |
T |
A |
1: 159,136,448 (GRCm39) |
|
probably benign |
Het |
| Dmrta1 |
T |
C |
4: 89,579,795 (GRCm39) |
S252P |
probably benign |
Het |
| Dnaaf5 |
T |
G |
5: 139,170,384 (GRCm39) |
S484A |
probably benign |
Het |
| Dspp |
A |
T |
5: 104,324,935 (GRCm39) |
S433C |
probably damaging |
Het |
| Efcab5 |
G |
A |
11: 77,028,714 (GRCm39) |
R206* |
probably null |
Het |
| Epop |
A |
T |
11: 97,519,027 (GRCm39) |
S361T |
probably benign |
Het |
| Fat3 |
T |
A |
9: 15,871,802 (GRCm39) |
T3530S |
probably benign |
Het |
| Flvcr1 |
A |
G |
1: 190,757,843 (GRCm39) |
Y108H |
probably damaging |
Het |
| Fsip2 |
T |
G |
2: 82,822,347 (GRCm39) |
S6027A |
probably benign |
Het |
| Galnt14 |
A |
G |
17: 73,842,262 (GRCm39) |
L209P |
probably damaging |
Het |
| Hif3a |
C |
A |
7: 16,784,513 (GRCm39) |
R25L |
probably null |
Het |
| Hsf5 |
A |
G |
11: 87,522,521 (GRCm39) |
|
probably benign |
Het |
| Il22ra2 |
A |
T |
10: 19,502,492 (GRCm39) |
T104S |
probably benign |
Het |
| Klrk1 |
A |
G |
6: 129,592,316 (GRCm39) |
S138P |
probably damaging |
Het |
| Lrp5 |
G |
T |
19: 3,664,283 (GRCm39) |
Q815K |
probably benign |
Het |
| Morn4 |
A |
G |
19: 42,064,886 (GRCm39) |
|
probably benign |
Het |
| Nlrp14 |
T |
A |
7: 106,781,929 (GRCm39) |
Y375* |
probably null |
Het |
| Nsd1 |
T |
A |
13: 55,443,943 (GRCm39) |
M1714K |
probably damaging |
Het |
| Or2aj6 |
T |
A |
16: 19,443,848 (GRCm39) |
M1L |
probably benign |
Het |
| Or5aq7 |
G |
A |
2: 86,938,710 (GRCm39) |
T7I |
possibly damaging |
Het |
| Or6c213 |
T |
A |
10: 129,574,735 (GRCm39) |
D17V |
possibly damaging |
Het |
| Pappa2 |
C |
T |
1: 158,678,786 (GRCm39) |
A877T |
probably benign |
Het |
| Pcsk2 |
G |
A |
2: 143,532,262 (GRCm39) |
A137T |
probably damaging |
Het |
| Piezo1 |
A |
G |
8: 123,212,044 (GRCm39) |
V2054A |
probably benign |
Het |
| Rad52 |
A |
G |
6: 119,892,188 (GRCm39) |
|
probably benign |
Het |
| Rnf123 |
G |
A |
9: 107,945,501 (GRCm39) |
R390* |
probably null |
Het |
| Rusf1 |
A |
T |
7: 127,889,752 (GRCm39) |
|
probably benign |
Het |
| Sbno1 |
A |
G |
5: 124,519,740 (GRCm39) |
|
probably benign |
Het |
| Scrn1 |
C |
T |
6: 54,489,186 (GRCm39) |
D312N |
probably benign |
Het |
| Slc25a28 |
A |
G |
19: 43,652,885 (GRCm39) |
Y259H |
probably damaging |
Het |
| Sppl2a |
T |
C |
2: 126,768,216 (GRCm39) |
M151V |
probably benign |
Het |
| Srrm1 |
G |
A |
4: 135,052,415 (GRCm39) |
P658L |
unknown |
Het |
| Stra8 |
G |
A |
6: 34,916,094 (GRCm39) |
D280N |
probably damaging |
Het |
| Thbs2 |
A |
T |
17: 14,897,275 (GRCm39) |
D744E |
possibly damaging |
Het |
| Tiparp |
A |
G |
3: 65,439,310 (GRCm39) |
T27A |
probably benign |
Het |
| Tmem38a |
T |
C |
8: 73,333,818 (GRCm39) |
F99S |
probably damaging |
Het |
| Tmod3 |
T |
C |
9: 75,416,667 (GRCm39) |
T222A |
probably benign |
Het |
| Tnn |
A |
G |
1: 159,913,677 (GRCm39) |
I1272T |
probably damaging |
Het |
| Tnpo1 |
A |
T |
13: 98,985,667 (GRCm39) |
I829N |
probably damaging |
Het |
| Trpm5 |
A |
T |
7: 142,641,613 (GRCm39) |
|
probably benign |
Het |
| Ttn |
A |
G |
2: 76,598,215 (GRCm39) |
V19566A |
probably damaging |
Het |
| V1ra8 |
A |
G |
6: 90,180,040 (GRCm39) |
D81G |
probably damaging |
Het |
| Zdhhc20 |
A |
G |
14: 58,127,564 (GRCm39) |
V25A |
probably benign |
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 |
|
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 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation