Incidental Mutation 'R0070:Sin3b'
| ID |
201461 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| MMRRC Submission |
038361-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0070 (G1)
|
| Quality Score |
37 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 73452210 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Glutamine
at position 105
(H105Q)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148599
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000109950]
[ENSMUST00000212095]
[ENSMUST00000212096]
|
| AlphaFold |
Q62141 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000004494
AA Change: H84Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
AA Change: H84Q
| 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: H84Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622
AA Change: H84Q
| 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: H84Q
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000212096
AA Change: H105Q
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.9%
- 10x: 97.7%
- 20x: 96.1%
|
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgre4 |
T |
C |
17: 56,109,154 (GRCm39) |
I387T |
probably damaging |
Het |
| Alpi |
A |
G |
1: 87,028,881 (GRCm39) |
|
probably benign |
Het |
| Ankfn1 |
A |
T |
11: 89,283,128 (GRCm39) |
L173Q |
probably damaging |
Het |
| Atp2a1 |
T |
C |
7: 126,046,624 (GRCm39) |
E892G |
probably benign |
Het |
| AU018091 |
T |
C |
7: 3,208,738 (GRCm39) |
|
probably null |
Het |
| Capn12 |
T |
C |
7: 28,588,551 (GRCm39) |
|
probably benign |
Het |
| Capn2 |
C |
A |
1: 182,301,434 (GRCm39) |
|
probably benign |
Het |
| Cd79b |
A |
G |
11: 106,202,744 (GRCm39) |
|
probably benign |
Het |
| Cdh20 |
C |
T |
1: 110,026,102 (GRCm39) |
A446V |
probably benign |
Het |
| Ciapin1 |
T |
C |
8: 95,551,847 (GRCm39) |
N246S |
possibly damaging |
Het |
| Cmip |
T |
A |
8: 118,153,293 (GRCm39) |
I270N |
probably damaging |
Het |
| Cyp2d40 |
A |
G |
15: 82,644,975 (GRCm39) |
V225A |
unknown |
Het |
| Dnah9 |
A |
G |
11: 66,050,866 (GRCm39) |
V142A |
probably benign |
Het |
| Dnai4 |
A |
T |
4: 102,917,131 (GRCm39) |
I571K |
probably damaging |
Het |
| Flt3 |
A |
G |
5: 147,309,536 (GRCm39) |
|
probably benign |
Het |
| Gm10238 |
A |
G |
15: 75,109,434 (GRCm39) |
|
noncoding transcript |
Het |
| Gm4787 |
T |
A |
12: 81,425,840 (GRCm39) |
D106V |
probably damaging |
Het |
| Hipk2 |
G |
A |
6: 38,795,919 (GRCm39) |
R117* |
probably null |
Het |
| Hycc1 |
T |
C |
5: 24,169,997 (GRCm39) |
S451G |
probably damaging |
Het |
| Ifna11 |
A |
G |
4: 88,738,512 (GRCm39) |
D106G |
possibly damaging |
Het |
| Igkv1-115 |
G |
A |
6: 68,138,402 (GRCm39) |
V2I |
probably benign |
Het |
| Itga6 |
T |
C |
2: 71,657,060 (GRCm39) |
|
probably benign |
Het |
| Kcnj6 |
C |
A |
16: 94,742,056 (GRCm39) |
K5N |
probably benign |
Het |
| Kcnt1 |
T |
C |
2: 25,782,374 (GRCm39) |
V191A |
probably benign |
Het |
| Lcorl |
G |
A |
5: 45,891,043 (GRCm39) |
R437C |
probably damaging |
Het |
| Man2a1 |
G |
A |
17: 64,966,074 (GRCm39) |
|
probably null |
Het |
| Map3k14 |
T |
A |
11: 103,130,380 (GRCm39) |
|
probably null |
Het |
| Mtch1 |
T |
A |
17: 29,559,033 (GRCm39) |
|
probably benign |
Het |
| Myo1c |
A |
G |
11: 75,551,076 (GRCm39) |
N217S |
probably benign |
Het |
| Or2h15 |
A |
G |
17: 38,441,780 (GRCm39) |
L101P |
probably damaging |
Het |
| Or2w4 |
T |
C |
13: 21,795,431 (GRCm39) |
K236R |
possibly damaging |
Het |
| Orm3 |
A |
G |
4: 63,274,883 (GRCm39) |
T64A |
probably benign |
Het |
| Phf20l1 |
T |
G |
15: 66,511,840 (GRCm39) |
W940G |
probably damaging |
Het |
| Phldb1 |
C |
T |
9: 44,619,201 (GRCm39) |
R844H |
probably damaging |
Het |
| Piezo2 |
T |
C |
18: 63,235,155 (GRCm39) |
D814G |
probably damaging |
Het |
| Pkd2 |
T |
C |
5: 104,614,856 (GRCm39) |
C233R |
probably damaging |
Het |
| Prkd3 |
A |
G |
17: 79,261,939 (GRCm39) |
Y792H |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,556,618 (GRCm39) |
|
probably null |
Het |
| Pxdn |
T |
C |
12: 30,032,726 (GRCm39) |
L146S |
probably damaging |
Het |
| Rnf32 |
A |
G |
5: 29,430,125 (GRCm39) |
T315A |
probably benign |
Het |
| Rpl5 |
T |
C |
5: 108,049,766 (GRCm39) |
Y12H |
probably benign |
Het |
| Serpinh1 |
A |
T |
7: 98,998,521 (GRCm39) |
S36R |
probably damaging |
Het |
| Setx |
A |
T |
2: 29,051,537 (GRCm39) |
T2030S |
probably benign |
Het |
| Sf3a3 |
G |
A |
4: 124,608,748 (GRCm39) |
V21I |
probably benign |
Het |
| Slitrk1 |
T |
C |
14: 109,150,749 (GRCm39) |
|
probably benign |
Het |
| Slx4 |
A |
T |
16: 3,805,880 (GRCm39) |
D557E |
possibly damaging |
Het |
| Sprr3 |
C |
T |
3: 92,364,609 (GRCm39) |
M78I |
probably benign |
Het |
| Ssmem1 |
A |
G |
6: 30,519,420 (GRCm39) |
E35G |
possibly damaging |
Het |
| Stag1 |
C |
T |
9: 100,838,461 (GRCm39) |
P1238S |
probably null |
Het |
| Stra6 |
C |
T |
9: 58,059,898 (GRCm39) |
|
probably benign |
Het |
| Tmem127 |
T |
C |
2: 127,098,979 (GRCm39) |
V171A |
probably damaging |
Het |
| Tmem150a |
A |
G |
6: 72,335,742 (GRCm39) |
|
probably null |
Het |
| Top2a |
C |
G |
11: 98,905,886 (GRCm39) |
|
probably null |
Het |
| Ttn |
T |
C |
2: 76,644,771 (GRCm39) |
|
probably null |
Het |
| Tusc3 |
G |
A |
8: 39,530,421 (GRCm39) |
G129R |
possibly damaging |
Het |
| Uspl1 |
A |
G |
5: 149,146,515 (GRCm39) |
Y422C |
probably damaging |
Het |
| Vmn2r88 |
A |
T |
14: 51,651,597 (GRCm39) |
T312S |
probably benign |
Het |
| Zc3hav1l |
A |
T |
6: 38,272,125 (GRCm39) |
S215T |
probably damaging |
Het |
| Zfp947 |
T |
A |
17: 22,365,165 (GRCm39) |
T170S |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTGTCCTGTTGAGTCTCAGCC -3'
(R):5'- ACAAATGCCTAGCTGTGCTCCC -3'
Sequencing Primer
(F):5'- cacacacacacacacacac -3'
(R):5'- CTGTGGGTGCGACTCTC -3'
|
| Posted On |
2014-06-10 |
Incidental Mutation