Incidental Mutation 'R6492:Sin3b'
| ID |
522984 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3b
|
| Ensembl Gene |
ENSMUSG00000031622 |
| Gene Name |
transcriptional regulator, SIN3B (yeast) |
| Synonyms |
2810430C10Rik |
| MMRRC Submission |
044624-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6492 (G1)
|
| Quality Score |
218.009 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
73449913-73484829 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to A
at 73460118 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000148407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000004494]
[ENSMUST00000109950]
[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: 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 benign
Transcript: ENSMUST00000212096
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.6%
- 20x: 92.5%
|
| Validation Efficiency |
100% (60/60) |
| 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 |
|---|
| A2m |
C |
T |
6: 121,631,464 (GRCm39) |
T587I |
probably benign |
Het |
| Abl1 |
T |
A |
2: 31,691,667 (GRCm39) |
M1062K |
probably benign |
Het |
| Agbl4 |
G |
A |
4: 111,404,469 (GRCm39) |
D272N |
probably damaging |
Het |
| Apob |
A |
T |
12: 8,058,261 (GRCm39) |
I2215F |
probably damaging |
Het |
| Atp10b |
A |
T |
11: 43,109,784 (GRCm39) |
Q821H |
probably damaging |
Het |
| Atp1a3 |
T |
C |
7: 24,678,729 (GRCm39) |
Y971C |
probably damaging |
Het |
| Atp6ap1l |
A |
T |
13: 91,031,841 (GRCm39) |
H280Q |
probably damaging |
Het |
| B4galt2 |
A |
T |
4: 117,734,164 (GRCm39) |
M291K |
probably damaging |
Het |
| Cachd1 |
G |
T |
4: 100,809,315 (GRCm39) |
V267F |
possibly damaging |
Het |
| Cadm2 |
G |
T |
16: 66,581,715 (GRCm39) |
L188M |
probably damaging |
Het |
| Ccn6 |
C |
T |
10: 39,030,983 (GRCm39) |
G180D |
probably benign |
Het |
| Ceacam19 |
T |
C |
7: 19,616,517 (GRCm39) |
N199S |
probably benign |
Het |
| Chrna5 |
A |
G |
9: 54,905,347 (GRCm39) |
D53G |
probably benign |
Het |
| Clca4a |
T |
A |
3: 144,663,059 (GRCm39) |
T597S |
probably benign |
Het |
| Cluap1 |
T |
A |
16: 3,746,476 (GRCm39) |
M279K |
probably benign |
Het |
| Cngb1 |
T |
A |
8: 95,991,052 (GRCm39) |
M717L |
probably benign |
Het |
| Cp |
T |
C |
3: 20,036,186 (GRCm39) |
V777A |
probably benign |
Het |
| Drosha |
A |
G |
15: 12,861,792 (GRCm39) |
D594G |
probably benign |
Het |
| Exo5 |
A |
G |
4: 120,778,734 (GRCm39) |
|
probably benign |
Het |
| Gm10549 |
C |
A |
18: 33,597,358 (GRCm39) |
|
probably benign |
Het |
| Gprc5b |
A |
G |
7: 118,583,800 (GRCm39) |
I23T |
possibly damaging |
Het |
| Ikbke |
T |
C |
1: 131,186,955 (GRCm39) |
Y579C |
probably damaging |
Het |
| Ikzf2 |
T |
C |
1: 69,578,201 (GRCm39) |
Y362C |
probably damaging |
Het |
| Itfg1 |
A |
G |
8: 86,466,978 (GRCm39) |
V365A |
probably benign |
Het |
| Josd2 |
T |
C |
7: 44,120,578 (GRCm39) |
I105T |
probably damaging |
Het |
| Mc3r |
G |
A |
2: 172,091,074 (GRCm39) |
A99T |
possibly damaging |
Het |
| Mettl22 |
T |
A |
16: 8,306,755 (GRCm39) |
|
probably null |
Het |
| Mgat5 |
A |
G |
1: 127,399,301 (GRCm39) |
I619V |
probably benign |
Het |
| Nin |
T |
C |
12: 70,101,308 (GRCm39) |
I430V |
probably benign |
Het |
| Or52n2c |
C |
A |
7: 104,574,852 (GRCm39) |
A40S |
possibly damaging |
Het |
| Or5au1 |
A |
G |
14: 52,272,902 (GRCm39) |
F222S |
probably benign |
Het |
| Or5j3 |
T |
C |
2: 86,128,990 (GRCm39) |
F277L |
probably benign |
Het |
| Or5w22 |
C |
G |
2: 87,363,085 (GRCm39) |
A236G |
possibly damaging |
Het |
| Or8k3 |
T |
A |
2: 86,058,731 (GRCm39) |
I195F |
possibly damaging |
Het |
| Parvb |
T |
C |
15: 84,188,073 (GRCm39) |
L272P |
probably damaging |
Het |
| Pde2a |
A |
G |
7: 101,149,649 (GRCm39) |
K180E |
possibly damaging |
Het |
| Pik3c3 |
C |
T |
18: 30,457,615 (GRCm39) |
T736M |
probably damaging |
Het |
| Plcb4 |
C |
T |
2: 135,814,991 (GRCm39) |
R760* |
probably null |
Het |
| Pramel6 |
C |
T |
2: 87,340,766 (GRCm39) |
T366I |
probably benign |
Het |
| Prr29 |
C |
T |
11: 106,266,062 (GRCm39) |
R42W |
probably damaging |
Het |
| Prss12 |
A |
G |
3: 123,241,048 (GRCm39) |
I81V |
probably benign |
Het |
| Ptpn13 |
A |
G |
5: 103,649,478 (GRCm39) |
T294A |
probably benign |
Het |
| Ptprc |
A |
T |
1: 138,041,300 (GRCm39) |
|
probably null |
Het |
| Slco5a1 |
T |
C |
1: 13,060,151 (GRCm39) |
Y190C |
probably damaging |
Het |
| Slco6c1 |
T |
G |
1: 97,053,538 (GRCm39) |
Y121S |
probably damaging |
Het |
| Srcap |
G |
T |
7: 127,121,317 (GRCm39) |
G217* |
probably null |
Het |
| Ss18 |
A |
T |
18: 14,784,145 (GRCm39) |
M181K |
probably damaging |
Het |
| Synm |
T |
C |
7: 67,385,809 (GRCm39) |
T176A |
probably benign |
Het |
| Taf3 |
T |
C |
2: 9,955,971 (GRCm39) |
E579G |
probably damaging |
Het |
| Taf7 |
A |
G |
18: 37,776,159 (GRCm39) |
I136T |
probably damaging |
Het |
| Tfap2d |
G |
C |
1: 19,174,702 (GRCm39) |
G52R |
probably benign |
Het |
| Tyrp1 |
A |
G |
4: 80,759,018 (GRCm39) |
D297G |
probably null |
Het |
| Uox |
C |
T |
3: 146,330,332 (GRCm39) |
R163* |
probably null |
Het |
| Wwp1 |
G |
A |
4: 19,650,299 (GRCm39) |
S289L |
possibly damaging |
Het |
| Xbp1 |
T |
C |
11: 5,471,005 (GRCm39) |
V4A |
probably benign |
Het |
| Zbtb17 |
G |
A |
4: 141,190,694 (GRCm39) |
G171S |
probably benign |
Het |
| Zbtb2 |
T |
C |
10: 4,319,711 (GRCm39) |
Y105C |
probably damaging |
Het |
| Zeb2 |
T |
C |
2: 45,000,508 (GRCm39) |
|
probably benign |
Het |
| Zkscan8 |
A |
T |
13: 21,709,397 (GRCm39) |
I167N |
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 |
|
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'- AAGGCTGATGTCTGCACAAC -3'
(R):5'- TGGTCCCAGGCACCTATACAAG -3'
Sequencing Primer
(F):5'- GATGTCTGCACAACTGCCC -3'
(R):5'- GGCACCTATACAAGCCTGGAG -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation