Incidental Mutation 'IGL02831:Sin3b'
ID |
361444 |
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 # |
IGL02831
|
Quality Score |
|
Status
|
|
Chromosome |
8 |
Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 73471190 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamic Acid to Glycine
at position 379
(E379G)
|
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 damaging
Transcript: ENSMUST00000004494
AA Change: E379G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000004494 Gene: ENSMUSG00000031622 AA Change: E379G
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: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca8a |
C |
T |
11: 109,943,907 (GRCm39) |
V1121M |
probably damaging |
Het |
Acrbp |
C |
A |
6: 125,038,212 (GRCm39) |
T471N |
possibly damaging |
Het |
Blnk |
C |
T |
19: 40,950,873 (GRCm39) |
D93N |
probably damaging |
Het |
Casp7 |
A |
G |
19: 56,392,855 (GRCm39) |
D3G |
probably benign |
Het |
Coro1c |
A |
T |
5: 113,982,469 (GRCm39) |
C456S |
probably benign |
Het |
Dlec1 |
T |
G |
9: 118,972,983 (GRCm39) |
L1499R |
probably damaging |
Het |
Dnah8 |
T |
C |
17: 30,931,250 (GRCm39) |
S1422P |
probably benign |
Het |
Exd1 |
T |
C |
2: 119,359,235 (GRCm39) |
D216G |
probably damaging |
Het |
Fhit |
T |
C |
14: 9,870,080 (GRCm38) |
T130A |
probably benign |
Het |
Frem1 |
A |
T |
4: 82,874,395 (GRCm39) |
M1409K |
probably benign |
Het |
Fut2 |
C |
T |
7: 45,300,193 (GRCm39) |
G193E |
possibly damaging |
Het |
Glb1l2 |
A |
G |
9: 26,678,746 (GRCm39) |
V465A |
probably benign |
Het |
Ints8 |
T |
C |
4: 11,245,896 (GRCm39) |
Q194R |
possibly damaging |
Het |
Ip6k2 |
C |
T |
9: 108,681,733 (GRCm39) |
|
probably benign |
Het |
Kctd2 |
T |
A |
11: 115,321,166 (GRCm39) |
*264K |
probably null |
Het |
Krt34 |
C |
A |
11: 99,930,973 (GRCm39) |
|
probably benign |
Het |
Lamc1 |
A |
G |
1: 153,122,801 (GRCm39) |
S760P |
probably benign |
Het |
Lrp1b |
T |
C |
2: 41,083,603 (GRCm39) |
N1702S |
probably damaging |
Het |
Lrrc8e |
T |
A |
8: 4,285,429 (GRCm39) |
S551R |
probably damaging |
Het |
Map3k20 |
T |
C |
2: 72,202,071 (GRCm39) |
V139A |
probably damaging |
Het |
Mrtfa |
A |
G |
15: 80,988,994 (GRCm39) |
L9P |
probably benign |
Het |
Napsa |
A |
G |
7: 44,236,184 (GRCm39) |
T408A |
probably benign |
Het |
Or2h15 |
T |
C |
17: 38,441,403 (GRCm39) |
K227E |
probably benign |
Het |
Or2w6 |
T |
C |
13: 21,843,074 (GRCm39) |
I140V |
probably benign |
Het |
Or5l13 |
T |
C |
2: 87,780,020 (GRCm39) |
|
probably null |
Het |
Panx1 |
A |
G |
9: 14,918,944 (GRCm39) |
L305P |
probably damaging |
Het |
Pkhd1l1 |
A |
G |
15: 44,364,889 (GRCm39) |
H676R |
probably benign |
Het |
Pld1 |
T |
A |
3: 28,130,574 (GRCm39) |
V458E |
probably damaging |
Het |
Ppp5c |
A |
G |
7: 16,742,570 (GRCm39) |
L256P |
probably damaging |
Het |
Pyroxd2 |
G |
T |
19: 42,724,342 (GRCm39) |
T307K |
probably damaging |
Het |
Scart1 |
G |
T |
7: 139,808,434 (GRCm39) |
V782L |
probably benign |
Het |
Slc22a23 |
T |
C |
13: 34,483,052 (GRCm39) |
T276A |
possibly damaging |
Het |
Slc26a3 |
T |
C |
12: 31,502,628 (GRCm39) |
I283T |
probably damaging |
Het |
Sltm |
A |
G |
9: 70,492,147 (GRCm39) |
D712G |
probably damaging |
Het |
Slu7 |
C |
T |
11: 43,333,480 (GRCm39) |
Q367* |
probably null |
Het |
Srbd1 |
T |
C |
17: 86,311,299 (GRCm39) |
N706S |
probably damaging |
Het |
Supt16 |
A |
T |
14: 52,408,335 (GRCm39) |
M870K |
possibly damaging |
Het |
Tnxb |
T |
C |
17: 34,922,545 (GRCm39) |
Y2453H |
possibly damaging |
Het |
Tomm40 |
A |
G |
7: 19,437,014 (GRCm39) |
Y274H |
probably damaging |
Het |
Utp20 |
A |
T |
10: 88,651,770 (GRCm39) |
D404E |
probably benign |
Het |
Vmn2r23 |
T |
A |
6: 123,681,344 (GRCm39) |
M84K |
probably benign |
Het |
Wdr70 |
A |
G |
15: 7,913,787 (GRCm39) |
Y621H |
possibly damaging |
Het |
Wfdc8 |
C |
T |
2: 164,447,685 (GRCm39) |
|
probably null |
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 |
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 |
2015-12-18 |