Incidental Mutation 'R4412:Sin3b'
| ID |
327970 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| MMRRC Submission |
041135-MU
|
| Accession Numbers |
Genbank: NM_009188, NM_001113248; MGI: 107158 |
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4412 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
8 |
| Chromosomal Location |
72723285-72758201 bp(+) (GRCm38) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 72739779 bp (GRCm38)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Alanine to Valine
at position 291
(A291V)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000105576
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000109950]
[ENSMUST00000212095]
|
| AlphaFold |
Q62141 |
| Predicted Effect |
probably benign
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 benign
Transcript: ENSMUST00000109950
AA Change: A291V
PolyPhen 2
Score 0.160 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000105576
Gene: ENSMUSG00000031622
AA Change: A291V
| 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 |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.2%
- 20x: 95.2%
|
| 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: 40 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Adgrb1 |
T |
C |
15: 74,577,453 (GRCm38) |
|
probably benign |
Het |
| Adprhl1 |
T |
C |
8: 13,246,114 (GRCm38) |
K144E |
probably benign |
Het |
| Alpl |
A |
G |
4: 137,758,628 (GRCm38) |
I2T |
possibly damaging |
Het |
| Chdh |
G |
T |
14: 30,031,715 (GRCm38) |
G194C |
probably damaging |
Het |
| Cp |
A |
T |
3: 19,966,353 (GRCm38) |
D170V |
probably damaging |
Het |
| Cpne9 |
A |
G |
6: 113,290,001 (GRCm38) |
K132E |
possibly damaging |
Het |
| Cyp2b9 |
T |
G |
7: 26,198,443 (GRCm38) |
L224R |
probably damaging |
Het |
| Dmxl1 |
A |
G |
18: 49,848,761 (GRCm38) |
N153S |
probably benign |
Het |
| Dnah17 |
T |
C |
11: 118,073,683 (GRCm38) |
Y2423C |
probably damaging |
Het |
| Dnajc14 |
G |
T |
10: 128,806,205 (GRCm38) |
|
probably benign |
Het |
| Eipr1 |
A |
T |
12: 28,859,373 (GRCm38) |
D213V |
probably damaging |
Het |
| Fat1 |
T |
C |
8: 45,023,599 (GRCm38) |
V1894A |
probably damaging |
Het |
| Flrt2 |
G |
A |
12: 95,780,273 (GRCm38) |
V462I |
probably benign |
Het |
| Gigyf2 |
A |
G |
1: 87,436,860 (GRCm38) |
E954G |
probably damaging |
Het |
| Glis1 |
A |
G |
4: 107,634,718 (GRCm38) |
H593R |
probably damaging |
Het |
| Gpr21 |
C |
G |
2: 37,517,432 (GRCm38) |
|
probably benign |
Het |
| Gsdmc3 |
A |
G |
15: 63,866,796 (GRCm38) |
M139T |
probably benign |
Het |
| Hydin |
C |
T |
8: 110,415,736 (GRCm38) |
T749I |
probably damaging |
Het |
| Ilf3 |
C |
T |
9: 21,399,560 (GRCm38) |
P620S |
possibly damaging |
Het |
| Khdc3 |
A |
G |
9: 73,102,874 (GRCm38) |
T71A |
possibly damaging |
Het |
| Ms4a12 |
T |
C |
19: 11,230,443 (GRCm38) |
N33S |
probably benign |
Het |
| Nisch |
A |
G |
14: 31,186,658 (GRCm38) |
|
probably benign |
Het |
| Npr2 |
G |
A |
4: 43,644,150 (GRCm38) |
C593Y |
probably damaging |
Het |
| Npr3 |
G |
C |
15: 11,905,149 (GRCm38) |
T164R |
probably benign |
Het |
| Olfr1231 |
A |
G |
2: 89,303,340 (GRCm38) |
I84T |
probably benign |
Het |
| Palld |
A |
G |
8: 61,687,372 (GRCm38) |
Y534H |
probably damaging |
Het |
| Pcdhb10 |
TC |
T |
18: 37,414,141 (GRCm38) |
|
probably null |
Het |
| Plekhg3 |
A |
C |
12: 76,577,764 (GRCm38) |
T1127P |
probably damaging |
Het |
| Podnl1 |
A |
T |
8: 84,130,665 (GRCm38) |
H301L |
probably benign |
Het |
| Ripk2 |
A |
G |
4: 16,124,511 (GRCm38) |
V399A |
probably benign |
Het |
| Rpp30 |
T |
A |
19: 36,100,255 (GRCm38) |
N172K |
possibly damaging |
Het |
| Slc12a6 |
A |
T |
2: 112,335,888 (GRCm38) |
Q204L |
possibly damaging |
Het |
| Snx9 |
C |
T |
17: 5,908,394 (GRCm38) |
T249M |
probably damaging |
Het |
| Sohlh2 |
C |
A |
3: 55,197,002 (GRCm38) |
T264K |
probably damaging |
Het |
| Srrm2 |
A |
G |
17: 23,810,468 (GRCm38) |
|
probably benign |
Het |
| Syne2 |
T |
A |
12: 76,106,060 (GRCm38) |
H6674Q |
probably benign |
Het |
| Tyw1 |
T |
A |
5: 130,335,232 (GRCm38) |
|
probably null |
Het |
| Vmn1r115 |
C |
T |
7: 20,844,282 (GRCm38) |
R235K |
probably benign |
Het |
| Vmn2r50 |
A |
C |
7: 10,050,308 (GRCm38) |
F80V |
probably damaging |
Het |
| Yme1l1 |
G |
A |
2: 23,175,187 (GRCm38) |
R236H |
probably damaging |
Het |
|
| Other mutations in Sin3b |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00586:Sin3b
|
APN |
8 |
72,757,000 (GRCm38) |
missense |
probably benign |
0.22 |
|
IGL01107:Sin3b
|
APN |
8 |
72,731,105 (GRCm38) |
missense |
possibly damaging |
0.74 |
|
IGL01114:Sin3b
|
APN |
8 |
72,744,505 (GRCm38) |
missense |
probably benign |
0.06 |
|
IGL01603:Sin3b
|
APN |
8 |
72,750,064 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL01763:Sin3b
|
APN |
8 |
72,746,608 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL02078:Sin3b
|
APN |
8 |
72,753,580 (GRCm38) |
missense |
possibly damaging |
0.49 |
|
IGL02572:Sin3b
|
APN |
8 |
72,744,481 (GRCm38) |
missense |
probably benign |
0.15 |
|
IGL02732:Sin3b
|
APN |
8 |
72,733,453 (GRCm38) |
missense |
possibly damaging |
0.72 |
|
IGL02831:Sin3b
|
APN |
8 |
72,744,562 (GRCm38) |
missense |
probably damaging |
1.00 |
|
IGL03064:Sin3b
|
APN |
8 |
72,757,058 (GRCm38) |
unclassified |
probably benign |
|
|
IGL03107:Sin3b
|
APN |
8 |
72,753,585 (GRCm38) |
missense |
probably damaging |
0.99 |
|
IGL03142:Sin3b
|
APN |
8 |
72,744,568 (GRCm38) |
missense |
probably damaging |
1.00 |
|
3-1:Sin3b
|
UTSW |
8 |
72,753,209 (GRCm38) |
missense |
possibly damaging |
0.95 |
|
R0070:Sin3b
|
UTSW |
8 |
72,725,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0070:Sin3b
|
UTSW |
8 |
72,725,582 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R0226:Sin3b
|
UTSW |
8 |
72,744,508 (GRCm38) |
missense |
probably benign |
0.44 |
|
R0629:Sin3b
|
UTSW |
8 |
72,753,536 (GRCm38) |
splice site |
probably benign |
|
|
R1486:Sin3b
|
UTSW |
8 |
72,750,513 (GRCm38) |
missense |
probably benign |
0.00 |
|
R1524:Sin3b
|
UTSW |
8 |
72,753,287 (GRCm38) |
missense |
probably benign |
0.05 |
|
R1653:Sin3b
|
UTSW |
8 |
72,741,519 (GRCm38) |
missense |
probably benign |
0.30 |
|
R2144:Sin3b
|
UTSW |
8 |
72,731,265 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R2180:Sin3b
|
UTSW |
8 |
72,753,295 (GRCm38) |
nonsense |
probably null |
|
|
R2271:Sin3b
|
UTSW |
8 |
72,733,419 (GRCm38) |
missense |
probably benign |
0.11 |
|
R2353:Sin3b
|
UTSW |
8 |
72,724,152 (GRCm38) |
critical splice donor site |
probably null |
|
|
R3945:Sin3b
|
UTSW |
8 |
72,733,439 (GRCm38) |
missense |
possibly damaging |
0.88 |
|
R4564:Sin3b
|
UTSW |
8 |
72,753,581 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R4782:Sin3b
|
UTSW |
8 |
72,725,643 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4799:Sin3b
|
UTSW |
8 |
72,725,643 (GRCm38) |
missense |
probably benign |
0.04 |
|
R4863:Sin3b
|
UTSW |
8 |
72,744,948 (GRCm38) |
missense |
possibly damaging |
0.91 |
|
R5011:Sin3b
|
UTSW |
8 |
72,744,556 (GRCm38) |
missense |
probably benign |
0.39 |
|
R5237:Sin3b
|
UTSW |
8 |
72,733,343 (GRCm38) |
critical splice acceptor site |
probably null |
|
|
R5325:Sin3b
|
UTSW |
8 |
72,750,526 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R5725:Sin3b
|
UTSW |
8 |
72,725,692 (GRCm38) |
critical splice donor site |
probably null |
|
|
R5927:Sin3b
|
UTSW |
8 |
72,749,878 (GRCm38) |
missense |
probably benign |
0.00 |
|
R5945:Sin3b
|
UTSW |
8 |
72,731,165 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R6492:Sin3b
|
UTSW |
8 |
72,733,490 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7092:Sin3b
|
UTSW |
8 |
72,747,870 (GRCm38) |
critical splice donor site |
probably null |
|
|
R7106:Sin3b
|
UTSW |
8 |
72,724,137 (GRCm38) |
missense |
possibly damaging |
0.90 |
|
R7258:Sin3b
|
UTSW |
8 |
72,750,208 (GRCm38) |
missense |
probably benign |
0.00 |
|
R7472:Sin3b
|
UTSW |
8 |
72,753,225 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7475:Sin3b
|
UTSW |
8 |
72,749,872 (GRCm38) |
missense |
possibly damaging |
0.47 |
|
R7491:Sin3b
|
UTSW |
8 |
72,746,441 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R7636:Sin3b
|
UTSW |
8 |
72,747,734 (GRCm38) |
nonsense |
probably null |
|
|
R8063:Sin3b
|
UTSW |
8 |
72,725,541 (GRCm38) |
missense |
probably damaging |
1.00 |
|
R8354:Sin3b
|
UTSW |
8 |
72,741,480 (GRCm38) |
missense |
probably benign |
|
|
R8454:Sin3b
|
UTSW |
8 |
72,741,480 (GRCm38) |
missense |
probably benign |
|
|
R8711:Sin3b
|
UTSW |
8 |
72,723,398 (GRCm38) |
missense |
probably damaging |
0.97 |
|
R8719:Sin3b
|
UTSW |
8 |
72,723,511 (GRCm38) |
missense |
unknown |
|
|
R8807:Sin3b
|
UTSW |
8 |
72,750,080 (GRCm38) |
missense |
probably benign |
0.00 |
|
R8857:Sin3b
|
UTSW |
8 |
72,756,895 (GRCm38) |
missense |
probably benign |
|
|
R8924:Sin3b
|
UTSW |
8 |
72,746,503 (GRCm38) |
missense |
probably benign |
0.05 |
|
R9035:Sin3b
|
UTSW |
8 |
72,723,464 (GRCm38) |
missense |
unknown |
|
|
R9127:Sin3b
|
UTSW |
8 |
72,733,406 (GRCm38) |
missense |
possibly damaging |
0.70 |
|
R9272:Sin3b
|
UTSW |
8 |
72,744,540 (GRCm38) |
missense |
probably benign |
0.02 |
|
R9455:Sin3b
|
UTSW |
8 |
72,724,053 (GRCm38) |
missense |
possibly damaging |
0.56 |
|
R9641:Sin3b
|
UTSW |
8 |
72,750,559 (GRCm38) |
missense |
probably damaging |
1.00 |
|
X0017:Sin3b
|
UTSW |
8 |
72,731,165 (GRCm38) |
missense |
probably damaging |
0.97 |
|
| Predicted Primers |
PCR Primer
(F):5'- GTAGGAAAGCACCATCTCCTG -3'
(R):5'- CAGGACAGTTTGGGTGTCAAG -3'
Sequencing Primer
(F):5'- TGCTGACCTGGCCATCAC -3'
(R):5'- ACAGTTTGGGTGTCAAGATACC -3'
|
| Posted On |
2015-07-07 |
Incidental Mutation