Incidental Mutation 'R7106:Sin3b'
ID |
551183 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sin3b
|
Ensembl Gene |
ENSMUSG00000031622 |
Gene Name |
transcriptional regulator, SIN3B (yeast) |
Synonyms |
2810430C10Rik |
MMRRC Submission |
045198-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R7106 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
8 |
Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 73450765 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Phenylalanine to Leucine
at position 65
(F65L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000004494
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000109950]
[ENSMUST00000212095]
[ENSMUST00000212096]
|
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 |
possibly damaging
Transcript: ENSMUST00000004494
AA Change: F65L
PolyPhen 2
Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
|
SMART Domains |
Protein: ENSMUSP00000004494 Gene: ENSMUSG00000031622 AA Change: F65L
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 damaging
Transcript: ENSMUST00000109950
AA Change: F65L
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000105576 Gene: ENSMUSG00000031622 AA Change: F65L
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 damaging
Transcript: ENSMUST00000212095
AA Change: F65L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000212096
AA Change: F86L
PolyPhen 2
Score 0.965 (Sensitivity: 0.78; Specificity: 0.95)
|
Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.6%
- 20x: 98.8%
|
Validation Efficiency |
100% (62/62) |
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: 63 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Aldob |
T |
C |
4: 49,541,258 (GRCm39) |
Y138C |
probably damaging |
Het |
Ano7 |
A |
C |
1: 93,302,705 (GRCm39) |
|
probably null |
Het |
Arvcf |
T |
A |
16: 18,217,799 (GRCm39) |
V497E |
probably damaging |
Het |
Atad2 |
A |
G |
15: 57,980,162 (GRCm39) |
|
probably null |
Het |
Brinp1 |
C |
T |
4: 68,747,615 (GRCm39) |
A163T |
probably benign |
Het |
Catsperd |
C |
A |
17: 56,965,070 (GRCm39) |
|
probably null |
Het |
Ccm2l |
A |
G |
2: 152,912,571 (GRCm39) |
H70R |
possibly damaging |
Het |
Cgnl1 |
G |
A |
9: 71,633,015 (GRCm39) |
T112I |
probably benign |
Het |
Chid1 |
T |
C |
7: 141,102,573 (GRCm39) |
H220R |
probably benign |
Het |
Clca3a1 |
A |
G |
3: 144,733,190 (GRCm39) |
V106A |
probably damaging |
Het |
Cldn23 |
A |
C |
8: 36,293,069 (GRCm39) |
S140A |
probably benign |
Het |
Dennd2c |
T |
C |
3: 103,038,893 (GRCm39) |
S14P |
possibly damaging |
Het |
Det1 |
T |
C |
7: 78,493,212 (GRCm39) |
D264G |
probably damaging |
Het |
Dmwd |
T |
C |
7: 18,814,454 (GRCm39) |
V368A |
probably damaging |
Het |
Dnah11 |
T |
C |
12: 117,924,884 (GRCm39) |
K3362E |
probably benign |
Het |
Dnah8 |
T |
C |
17: 30,960,152 (GRCm39) |
F2208L |
probably damaging |
Het |
Dnaja3 |
T |
C |
16: 4,523,798 (GRCm39) |
I477T |
probably benign |
Het |
Dnmt3a |
A |
G |
12: 3,947,591 (GRCm39) |
K482E |
probably damaging |
Het |
Dock7 |
A |
G |
4: 98,855,563 (GRCm39) |
I1493T |
unknown |
Het |
Ehbp1l1 |
A |
G |
19: 5,768,765 (GRCm39) |
V846A |
probably benign |
Het |
Fbxl4 |
T |
A |
4: 22,427,140 (GRCm39) |
|
probably null |
Het |
Fgd2 |
T |
A |
17: 29,595,944 (GRCm39) |
L534* |
probably null |
Het |
Fgfr3 |
T |
C |
5: 33,888,758 (GRCm39) |
V349A |
probably damaging |
Het |
Gal3st1 |
A |
T |
11: 3,948,509 (GRCm39) |
I239F |
probably damaging |
Het |
Gpatch3 |
C |
A |
4: 133,305,514 (GRCm39) |
H250N |
probably benign |
Het |
Guca1b |
A |
T |
17: 47,702,236 (GRCm39) |
K230* |
probably null |
Het |
Itga3 |
G |
T |
11: 94,946,699 (GRCm39) |
L737I |
probably benign |
Het |
Kmt5c |
A |
G |
7: 4,745,705 (GRCm39) |
K122E |
probably damaging |
Het |
Kpna4 |
G |
A |
3: 68,986,797 (GRCm39) |
Q531* |
probably null |
Het |
Lctl |
A |
G |
9: 64,040,119 (GRCm39) |
E410G |
probably benign |
Het |
Lhx1 |
T |
C |
11: 84,412,903 (GRCm39) |
N128D |
probably benign |
Het |
Lifr |
A |
G |
15: 7,202,405 (GRCm39) |
N349D |
probably benign |
Het |
Map2 |
G |
A |
1: 66,449,903 (GRCm39) |
A209T |
possibly damaging |
Het |
Mif4gd |
G |
A |
11: 115,502,737 (GRCm39) |
A25V |
probably damaging |
Het |
Mug2 |
T |
C |
6: 122,059,680 (GRCm39) |
S1353P |
probably damaging |
Het |
Myh9 |
A |
G |
15: 77,659,321 (GRCm39) |
C931R |
probably benign |
Het |
Nelfe |
T |
G |
17: 35,071,395 (GRCm39) |
|
probably null |
Het |
Nrf1 |
A |
G |
6: 30,102,183 (GRCm39) |
S161G |
probably benign |
Het |
Pik3c2a |
G |
A |
7: 116,017,368 (GRCm39) |
Q130* |
probably null |
Het |
Prex2 |
T |
A |
1: 11,207,017 (GRCm39) |
M525K |
probably benign |
Het |
Psme2 |
A |
G |
14: 55,825,694 (GRCm39) |
S165P |
probably benign |
Het |
Rapgef2 |
A |
G |
3: 78,973,915 (GRCm39) |
F1477S |
probably benign |
Het |
Rasef |
A |
T |
4: 73,645,864 (GRCm39) |
C502S |
probably damaging |
Het |
Rpap2 |
T |
A |
5: 107,780,988 (GRCm39) |
L565* |
probably null |
Het |
Sav1 |
A |
G |
12: 70,031,390 (GRCm39) |
I44T |
probably damaging |
Het |
Selp |
T |
A |
1: 163,953,991 (GRCm39) |
I97N |
probably benign |
Het |
Serpina1d |
A |
G |
12: 103,731,980 (GRCm39) |
F293S |
probably benign |
Het |
Sorcs3 |
G |
C |
19: 48,694,402 (GRCm39) |
G559R |
probably damaging |
Het |
Susd2 |
A |
T |
10: 75,473,887 (GRCm39) |
D689E |
probably damaging |
Het |
Tas1r2 |
A |
T |
4: 139,389,360 (GRCm39) |
M448L |
probably benign |
Het |
Tbc1d30 |
A |
T |
10: 121,137,897 (GRCm39) |
I181N |
possibly damaging |
Het |
Tcea3 |
A |
G |
4: 135,998,679 (GRCm39) |
T318A |
probably damaging |
Het |
Tomm70a |
T |
C |
16: 56,961,121 (GRCm39) |
V358A |
probably damaging |
Het |
Tpp1 |
A |
C |
7: 105,399,118 (GRCm39) |
S153A |
possibly damaging |
Het |
Trip13 |
C |
T |
13: 74,062,651 (GRCm39) |
V387I |
probably benign |
Het |
Ttn |
T |
C |
2: 76,627,832 (GRCm39) |
I14704V |
probably benign |
Het |
Uimc1 |
C |
A |
13: 55,198,628 (GRCm39) |
C516F |
possibly damaging |
Het |
Vit |
A |
G |
17: 78,894,228 (GRCm39) |
N210S |
probably benign |
Het |
Vmn1r22 |
G |
T |
6: 57,877,296 (GRCm39) |
T227K |
probably damaging |
Het |
Vmn2r5 |
A |
G |
3: 64,399,104 (GRCm39) |
I625T |
probably benign |
Het |
Zfp27 |
AATCCGCTTGTGCA |
AA |
7: 29,594,446 (GRCm39) |
|
probably benign |
Het |
Zfp384 |
T |
C |
6: 125,001,222 (GRCm39) |
L98P |
probably benign |
Het |
Zfp809 |
G |
T |
9: 22,147,520 (GRCm39) |
K51N |
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 |
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 |
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 |
|
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'- TAACACCGCAGTTATCCTCG -3'
(R):5'- GGAATCCCATCAGTTCCTCAG -3'
Sequencing Primer
(F):5'- AGTTATCCTCGCGGCCC -3'
(R):5'- GAACCACCTCATCTTGCGACTG -3'
|
Posted On |
2019-05-15 |