Incidental Mutation 'R5237:Sin3b'
| ID |
398531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| MMRRC Submission |
042808-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5237 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
A to C
at 73459971 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000004494]
[ENSMUST00000109950]
[ENSMUST00000109950]
[ENSMUST00000212095]
[ENSMUST00000212095]
[ENSMUST00000212096]
|
| AlphaFold |
Q62141 |
| Predicted Effect |
probably null
Transcript: ENSMUST00000004494
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
| 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 null
Transcript: ENSMUST00000004494
|
| SMART Domains |
Protein: ENSMUSP00000004494
Gene: ENSMUSG00000031622
| 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 null
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 null
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 null
Transcript: ENSMUST00000212095
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000212095
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000212096
|
| Meta Mutation Damage Score |
0.9499 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.5%
|
| Validation Efficiency |
100% (76/76) |
| 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: 66 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aadacl4 |
G |
A |
4: 144,349,850 (GRCm39) |
W369* |
probably null |
Het |
| Adamts3 |
A |
T |
5: 89,923,236 (GRCm39) |
M190K |
probably benign |
Het |
| Adamtsl1 |
T |
C |
4: 86,303,906 (GRCm39) |
|
probably null |
Het |
| Adcy1 |
A |
T |
11: 7,099,553 (GRCm39) |
I678L |
probably benign |
Het |
| Agtrap |
A |
G |
4: 148,166,817 (GRCm39) |
S27P |
probably benign |
Het |
| Ankrd24 |
C |
A |
10: 81,478,379 (GRCm39) |
|
probably benign |
Het |
| Atg2a |
G |
T |
19: 6,296,844 (GRCm39) |
V383L |
probably benign |
Het |
| Ccdc40 |
T |
C |
11: 119,150,802 (GRCm39) |
V1105A |
probably benign |
Het |
| Cenpf |
A |
T |
1: 189,391,730 (GRCm39) |
S684T |
probably benign |
Het |
| Cog7 |
A |
G |
7: 121,550,444 (GRCm39) |
L360P |
probably damaging |
Het |
| Col12a1 |
T |
A |
9: 79,607,544 (GRCm39) |
Q428L |
probably benign |
Het |
| Col4a1 |
G |
A |
8: 11,295,068 (GRCm39) |
|
probably benign |
Het |
| Cpeb2 |
G |
A |
5: 43,443,099 (GRCm39) |
C930Y |
probably damaging |
Het |
| Cul9 |
T |
C |
17: 46,854,393 (GRCm39) |
D103G |
probably benign |
Het |
| Cyb5a |
T |
G |
18: 84,889,689 (GRCm39) |
F39L |
probably damaging |
Het |
| Cyp2d12 |
T |
A |
15: 82,442,207 (GRCm39) |
|
probably null |
Het |
| Dnah7a |
A |
C |
1: 53,486,690 (GRCm39) |
|
probably null |
Het |
| Efcab9 |
A |
T |
11: 32,472,832 (GRCm39) |
I205K |
probably benign |
Het |
| Ezh1 |
A |
G |
11: 101,107,819 (GRCm39) |
|
probably null |
Het |
| Galnt6 |
C |
A |
15: 100,591,274 (GRCm39) |
C610F |
probably damaging |
Het |
| Gata4 |
C |
T |
14: 63,478,075 (GRCm39) |
A175T |
probably benign |
Het |
| Gcc1 |
A |
T |
6: 28,420,651 (GRCm39) |
I222K |
probably benign |
Het |
| Gm5591 |
T |
A |
7: 38,221,631 (GRCm39) |
H146L |
probably benign |
Het |
| H2-T23 |
C |
T |
17: 36,341,258 (GRCm39) |
|
probably null |
Het |
| Hmcn2 |
T |
A |
2: 31,304,728 (GRCm39) |
I3124N |
probably benign |
Het |
| Hsf2 |
C |
A |
10: 57,382,317 (GRCm39) |
D364E |
probably benign |
Het |
| Il15ra |
A |
G |
2: 11,738,016 (GRCm39) |
T250A |
possibly damaging |
Het |
| Large2 |
T |
C |
2: 92,197,487 (GRCm39) |
E372G |
probably benign |
Het |
| Map2 |
A |
G |
1: 66,478,169 (GRCm39) |
|
probably benign |
Het |
| Med24 |
T |
C |
11: 98,601,609 (GRCm39) |
Y524C |
probably damaging |
Het |
| Mfsd6l |
C |
A |
11: 68,448,096 (GRCm39) |
Q316K |
probably benign |
Het |
| Mroh6 |
T |
C |
15: 75,757,840 (GRCm39) |
T417A |
possibly damaging |
Het |
| Mymk |
T |
C |
2: 26,952,200 (GRCm39) |
*181W |
probably null |
Het |
| Nup210l |
A |
G |
3: 90,087,505 (GRCm39) |
T1093A |
probably benign |
Het |
| Or10al4 |
T |
A |
17: 38,037,268 (GRCm39) |
C118S |
probably damaging |
Het |
| Or10p1 |
A |
G |
10: 129,443,732 (GRCm39) |
V206A |
probably benign |
Het |
| Or52w1 |
A |
T |
7: 105,018,513 (GRCm39) |
K327* |
probably null |
Het |
| Or8b54 |
C |
T |
9: 38,687,252 (GRCm39) |
R234W |
probably damaging |
Het |
| Papola |
T |
C |
12: 105,793,219 (GRCm39) |
V513A |
probably benign |
Het |
| Pex26 |
T |
A |
6: 121,162,806 (GRCm39) |
L119Q |
probably damaging |
Het |
| Phldb2 |
T |
C |
16: 45,568,249 (GRCm39) |
I1219V |
probably damaging |
Het |
| Plch2 |
A |
G |
4: 155,095,251 (GRCm39) |
V64A |
probably benign |
Het |
| Plekho1 |
A |
G |
3: 95,902,937 (GRCm39) |
V24A |
probably damaging |
Het |
| Pon2 |
A |
C |
6: 5,265,455 (GRCm39) |
S311A |
probably benign |
Het |
| Pramel31 |
G |
T |
4: 144,089,041 (GRCm39) |
E120* |
probably null |
Het |
| Rsrc2 |
T |
C |
5: 123,877,645 (GRCm39) |
|
probably benign |
Het |
| Selenov |
T |
C |
7: 27,987,572 (GRCm39) |
D295G |
probably damaging |
Het |
| Serpina10 |
T |
A |
12: 103,595,075 (GRCm39) |
Y48F |
probably benign |
Het |
| Setbp1 |
T |
A |
18: 78,900,190 (GRCm39) |
D1159V |
possibly damaging |
Het |
| Setx |
C |
T |
2: 29,036,995 (GRCm39) |
T1160I |
probably benign |
Het |
| Skint11 |
A |
G |
4: 114,102,042 (GRCm39) |
K352E |
possibly damaging |
Het |
| Slitrk5 |
T |
A |
14: 111,919,118 (GRCm39) |
V914E |
possibly damaging |
Het |
| Srgap1 |
A |
G |
10: 121,643,788 (GRCm39) |
Y633H |
probably damaging |
Het |
| Stard9 |
A |
G |
2: 120,529,839 (GRCm39) |
D2032G |
probably damaging |
Het |
| Sv2c |
G |
A |
13: 96,118,391 (GRCm39) |
T486I |
possibly damaging |
Het |
| Tesk1 |
T |
C |
4: 43,447,100 (GRCm39) |
F496S |
probably damaging |
Het |
| Tfg |
T |
A |
16: 56,533,071 (GRCm39) |
E29D |
possibly damaging |
Het |
| Tnc |
G |
A |
4: 63,880,333 (GRCm39) |
T2038I |
probably damaging |
Het |
| Tor4a |
T |
G |
2: 25,084,976 (GRCm39) |
N309T |
probably damaging |
Het |
| Trim69 |
A |
G |
2: 122,003,821 (GRCm39) |
T257A |
probably benign |
Het |
| Trpm6 |
C |
T |
19: 18,790,828 (GRCm39) |
A621V |
probably damaging |
Het |
| Ttn |
A |
T |
2: 76,641,587 (GRCm39) |
L5176Q |
possibly damaging |
Het |
| Vmn1r6 |
A |
C |
6: 56,980,179 (GRCm39) |
Q258H |
probably damaging |
Het |
| Vmn2r84 |
A |
G |
10: 130,221,863 (GRCm39) |
C786R |
probably damaging |
Het |
| Xylt2 |
T |
C |
11: 94,557,953 (GRCm39) |
D638G |
probably benign |
Het |
| Zfp934 |
A |
G |
13: 62,665,652 (GRCm39) |
C330R |
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 |
|
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 |
|
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'- CCATTGCTCTGAAACCCATCG -3'
(R):5'- TAGTCACAGTGTGTAAGACAGGC -3'
Sequencing Primer
(F):5'- ATCGTACCCTCCCCATACAGTATG -3'
(R):5'- ACATATCTTTCGGGCAGGATC -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation