Incidental Mutation 'R6456:Sin3a'
ID |
520192 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sin3a
|
Ensembl Gene |
ENSMUSG00000042557 |
Gene Name |
transcriptional regulator, SIN3A (yeast) |
Synonyms |
Sin3, mSin3A |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6456 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
9 |
Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 57020985 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Serine to Glycine
at position 1004
(S1004G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000126601
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049169]
[ENSMUST00000167715]
[ENSMUST00000168177]
[ENSMUST00000168502]
[ENSMUST00000168678]
|
AlphaFold |
Q60520 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000049169
AA Change: S1004G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000045044 Gene: ENSMUSG00000042557 AA Change: S1004G
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000125333
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000167715
AA Change: S1004G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130641 Gene: ENSMUSG00000042557 AA Change: S1004G
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000167963
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168177
AA Change: S1004G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000130221 Gene: ENSMUSG00000042557 AA Change: S1004G
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
142 |
186 |
5.3e-22 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
323 |
380 |
9.6e-22 |
PFAM |
Pfam:PAH
|
479 |
523 |
8.1e-11 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
Pfam:Sin3a_C
|
887 |
1190 |
1.2e-93 |
PFAM |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168502
AA Change: S1004G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000128956 Gene: ENSMUSG00000042557 AA Change: S1004G
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1138 |
1154 |
N/A |
INTRINSIC |
|
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000168678
AA Change: S1004G
PolyPhen 2
Score 0.786 (Sensitivity: 0.85; Specificity: 0.93)
|
SMART Domains |
Protein: ENSMUSP00000126601 Gene: ENSMUSG00000042557 AA Change: S1004G
Domain | Start | End | E-Value | Type |
low complexity region
|
98 |
119 |
N/A |
INTRINSIC |
Pfam:PAH
|
141 |
187 |
1.4e-19 |
PFAM |
low complexity region
|
217 |
248 |
N/A |
INTRINSIC |
low complexity region
|
267 |
282 |
N/A |
INTRINSIC |
Pfam:PAH
|
322 |
381 |
1.8e-23 |
PFAM |
Pfam:PAH
|
478 |
524 |
4e-16 |
PFAM |
HDAC_interact
|
551 |
651 |
3.31e-61 |
SMART |
low complexity region
|
834 |
847 |
N/A |
INTRINSIC |
low complexity region
|
915 |
930 |
N/A |
INTRINSIC |
low complexity region
|
1135 |
1151 |
N/A |
INTRINSIC |
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.4%
- 20x: 91.8%
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a transcriptional regulatory protein. It contains paired amphipathic helix (PAH) domains, which are important for protein-protein interactions and may mediate repression by the Mad-Max complex. [provided by RefSeq, Jul 2008] PHENOTYPE: Targeted disruption of this gene results in early embryonic lethality. Homozygous null MEFs display poor cell proliferation, reduced S-phase and increased G2/M fractions, a block in DNA replication, and enhanced apoptosis; however, no increase in chromosomal instability is observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 51 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca13 |
A |
T |
11: 9,240,474 (GRCm39) |
H779L |
possibly damaging |
Het |
Abca7 |
T |
C |
10: 79,850,984 (GRCm39) |
V2097A |
probably null |
Het |
Adam8 |
A |
G |
7: 139,566,701 (GRCm39) |
S524P |
possibly damaging |
Het |
Anapc2 |
T |
C |
2: 25,170,207 (GRCm39) |
M575T |
probably damaging |
Het |
Arhgap42 |
T |
A |
9: 9,005,823 (GRCm39) |
I736L |
probably benign |
Het |
AU040320 |
A |
G |
4: 126,736,284 (GRCm39) |
N789S |
probably benign |
Het |
Bmi1 |
A |
G |
2: 18,687,058 (GRCm39) |
Y46C |
probably damaging |
Het |
Brd10 |
G |
A |
19: 29,693,914 (GRCm39) |
P1860S |
possibly damaging |
Het |
Ccdc125 |
T |
C |
13: 100,832,817 (GRCm39) |
S465P |
possibly damaging |
Het |
Cd180 |
C |
T |
13: 102,839,344 (GRCm39) |
L76F |
probably damaging |
Het |
Cep135 |
T |
C |
5: 76,739,571 (GRCm39) |
|
probably benign |
Het |
Col6a5 |
G |
A |
9: 105,822,676 (GRCm39) |
T227I |
unknown |
Het |
Cyp4a29 |
G |
T |
4: 115,108,381 (GRCm39) |
M368I |
probably benign |
Het |
Ddx28 |
T |
A |
8: 106,737,000 (GRCm39) |
I353F |
possibly damaging |
Het |
Dhx40 |
G |
A |
11: 86,675,800 (GRCm39) |
T198M |
probably damaging |
Het |
Dnai4 |
A |
C |
4: 102,906,746 (GRCm39) |
M689R |
probably benign |
Het |
Dync2i2 |
T |
C |
2: 29,922,779 (GRCm39) |
S323G |
probably benign |
Het |
Fat4 |
G |
A |
3: 39,038,128 (GRCm39) |
V3927M |
possibly damaging |
Het |
Garin1b |
A |
G |
6: 29,334,045 (GRCm39) |
N299S |
probably benign |
Het |
Gm10226 |
G |
T |
17: 21,910,932 (GRCm39) |
G56* |
probably null |
Het |
H2-T15 |
A |
T |
17: 36,367,502 (GRCm39) |
Y279N |
probably damaging |
Het |
Itsn2 |
T |
G |
12: 4,679,923 (GRCm39) |
|
probably benign |
Het |
Lrrc8a |
A |
G |
2: 30,145,486 (GRCm39) |
D100G |
probably benign |
Het |
Madd |
T |
C |
2: 91,008,536 (GRCm39) |
H122R |
probably benign |
Het |
Mfsd4b3-ps |
C |
G |
10: 39,823,316 (GRCm39) |
V315L |
probably benign |
Het |
Mki67 |
C |
G |
7: 135,301,204 (GRCm39) |
A1277P |
possibly damaging |
Het |
Nlrp9b |
T |
A |
7: 19,782,703 (GRCm39) |
N872K |
probably damaging |
Het |
Npas1 |
T |
C |
7: 16,195,851 (GRCm39) |
T274A |
probably benign |
Het |
Nrm |
A |
T |
17: 36,176,292 (GRCm39) |
|
probably null |
Het |
Or10j2 |
A |
T |
1: 173,098,105 (GRCm39) |
D121V |
probably damaging |
Het |
Pdilt |
T |
A |
7: 119,099,706 (GRCm39) |
L187F |
probably damaging |
Het |
Pkdcc |
T |
C |
17: 83,527,548 (GRCm39) |
I242T |
probably damaging |
Het |
Plch2 |
C |
A |
4: 155,077,459 (GRCm39) |
D535Y |
probably damaging |
Het |
Pmpca |
T |
A |
2: 26,285,179 (GRCm39) |
I468N |
probably damaging |
Het |
Prpf4 |
T |
C |
4: 62,332,869 (GRCm39) |
|
probably null |
Het |
Rcc1 |
A |
G |
4: 132,061,427 (GRCm39) |
S361P |
probably benign |
Het |
Rigi |
T |
A |
4: 40,213,838 (GRCm39) |
N607Y |
possibly damaging |
Het |
Rnf213 |
A |
G |
11: 119,350,792 (GRCm39) |
I3876V |
probably benign |
Het |
Sall2 |
T |
A |
14: 52,551,050 (GRCm39) |
Q715L |
probably damaging |
Het |
Sall2 |
G |
A |
14: 52,551,051 (GRCm39) |
Q713* |
probably null |
Het |
Sltm |
C |
T |
9: 70,450,269 (GRCm39) |
T23M |
probably damaging |
Het |
Spata31e2 |
T |
A |
1: 26,724,250 (GRCm39) |
H310L |
probably damaging |
Het |
Sspo |
A |
G |
6: 48,428,740 (GRCm39) |
E385G |
probably benign |
Het |
Syne3 |
G |
T |
12: 104,906,963 (GRCm39) |
R775S |
possibly damaging |
Het |
Szt2 |
A |
T |
4: 118,233,894 (GRCm39) |
|
probably benign |
Het |
Tlk2 |
T |
C |
11: 105,112,099 (GRCm39) |
S151P |
probably benign |
Het |
Trabd2b |
C |
T |
4: 114,443,757 (GRCm39) |
R305C |
probably damaging |
Het |
Ttc21b |
T |
C |
2: 66,018,675 (GRCm39) |
Q1244R |
probably damaging |
Het |
Vmn2r125 |
A |
G |
4: 156,703,357 (GRCm39) |
N245S |
probably benign |
Het |
Wdr64 |
G |
A |
1: 175,613,175 (GRCm39) |
|
probably null |
Het |
Wdr70 |
G |
A |
15: 7,915,118 (GRCm39) |
T550M |
possibly damaging |
Het |
|
Other mutations in Sin3a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00433:Sin3a
|
APN |
9 |
57,005,185 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00836:Sin3a
|
APN |
9 |
57,014,629 (GRCm39) |
splice site |
probably null |
|
IGL00913:Sin3a
|
APN |
9 |
57,005,402 (GRCm39) |
missense |
probably benign |
0.01 |
IGL01721:Sin3a
|
APN |
9 |
57,002,609 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL01964:Sin3a
|
APN |
9 |
57,014,631 (GRCm39) |
splice site |
probably benign |
|
IGL02333:Sin3a
|
APN |
9 |
57,014,843 (GRCm39) |
missense |
possibly damaging |
0.86 |
IGL02673:Sin3a
|
APN |
9 |
57,014,725 (GRCm39) |
missense |
probably damaging |
0.99 |
Crumbled
|
UTSW |
9 |
57,017,938 (GRCm39) |
nonsense |
probably null |
|
Delicate
|
UTSW |
9 |
57,011,213 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL03014:Sin3a
|
UTSW |
9 |
57,002,539 (GRCm39) |
intron |
probably benign |
|
PIT4519001:Sin3a
|
UTSW |
9 |
57,002,740 (GRCm39) |
missense |
possibly damaging |
0.86 |
R0024:Sin3a
|
UTSW |
9 |
57,025,537 (GRCm39) |
intron |
probably benign |
|
R0309:Sin3a
|
UTSW |
9 |
57,018,196 (GRCm39) |
missense |
probably benign |
0.00 |
R0511:Sin3a
|
UTSW |
9 |
57,004,179 (GRCm39) |
nonsense |
probably null |
|
R1205:Sin3a
|
UTSW |
9 |
57,026,459 (GRCm39) |
missense |
probably damaging |
1.00 |
R1365:Sin3a
|
UTSW |
9 |
57,032,487 (GRCm39) |
nonsense |
probably null |
|
R1496:Sin3a
|
UTSW |
9 |
57,026,442 (GRCm39) |
missense |
possibly damaging |
0.77 |
R1544:Sin3a
|
UTSW |
9 |
57,011,281 (GRCm39) |
splice site |
probably benign |
|
R1958:Sin3a
|
UTSW |
9 |
57,012,893 (GRCm39) |
missense |
probably damaging |
1.00 |
R1993:Sin3a
|
UTSW |
9 |
57,008,483 (GRCm39) |
missense |
probably damaging |
1.00 |
R2037:Sin3a
|
UTSW |
9 |
57,004,109 (GRCm39) |
missense |
probably benign |
0.14 |
R2065:Sin3a
|
UTSW |
9 |
57,018,084 (GRCm39) |
missense |
possibly damaging |
0.93 |
R2079:Sin3a
|
UTSW |
9 |
56,996,807 (GRCm39) |
missense |
probably benign |
|
R2193:Sin3a
|
UTSW |
9 |
57,024,761 (GRCm39) |
missense |
possibly damaging |
0.93 |
R3004:Sin3a
|
UTSW |
9 |
57,004,118 (GRCm39) |
nonsense |
probably null |
|
R3929:Sin3a
|
UTSW |
9 |
57,025,421 (GRCm39) |
missense |
probably damaging |
0.98 |
R4326:Sin3a
|
UTSW |
9 |
57,002,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4327:Sin3a
|
UTSW |
9 |
57,002,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4329:Sin3a
|
UTSW |
9 |
57,002,642 (GRCm39) |
missense |
probably damaging |
1.00 |
R4765:Sin3a
|
UTSW |
9 |
57,004,087 (GRCm39) |
missense |
probably benign |
0.14 |
R4806:Sin3a
|
UTSW |
9 |
56,994,026 (GRCm39) |
missense |
probably damaging |
0.99 |
R4979:Sin3a
|
UTSW |
9 |
57,025,360 (GRCm39) |
missense |
probably damaging |
1.00 |
R5018:Sin3a
|
UTSW |
9 |
57,018,175 (GRCm39) |
missense |
probably benign |
0.00 |
R5368:Sin3a
|
UTSW |
9 |
57,018,084 (GRCm39) |
missense |
possibly damaging |
0.93 |
R5379:Sin3a
|
UTSW |
9 |
57,018,272 (GRCm39) |
missense |
probably benign |
0.10 |
R5391:Sin3a
|
UTSW |
9 |
57,012,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5395:Sin3a
|
UTSW |
9 |
57,012,957 (GRCm39) |
missense |
probably damaging |
1.00 |
R5519:Sin3a
|
UTSW |
9 |
57,025,457 (GRCm39) |
critical splice donor site |
probably null |
|
R5927:Sin3a
|
UTSW |
9 |
57,018,395 (GRCm39) |
missense |
probably damaging |
1.00 |
R5987:Sin3a
|
UTSW |
9 |
57,034,484 (GRCm39) |
missense |
possibly damaging |
0.75 |
R6083:Sin3a
|
UTSW |
9 |
57,014,824 (GRCm39) |
missense |
probably damaging |
1.00 |
R6161:Sin3a
|
UTSW |
9 |
57,002,708 (GRCm39) |
missense |
possibly damaging |
0.48 |
R6196:Sin3a
|
UTSW |
9 |
57,011,213 (GRCm39) |
missense |
probably damaging |
1.00 |
R6374:Sin3a
|
UTSW |
9 |
57,024,765 (GRCm39) |
missense |
probably benign |
|
R6815:Sin3a
|
UTSW |
9 |
57,024,824 (GRCm39) |
missense |
probably benign |
0.02 |
R6900:Sin3a
|
UTSW |
9 |
57,014,858 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:Sin3a
|
UTSW |
9 |
57,011,218 (GRCm39) |
missense |
probably damaging |
1.00 |
R7081:Sin3a
|
UTSW |
9 |
57,001,755 (GRCm39) |
missense |
probably null |
1.00 |
R7285:Sin3a
|
UTSW |
9 |
57,034,583 (GRCm39) |
missense |
possibly damaging |
0.57 |
R7462:Sin3a
|
UTSW |
9 |
57,002,809 (GRCm39) |
missense |
probably benign |
0.00 |
R7538:Sin3a
|
UTSW |
9 |
57,011,210 (GRCm39) |
missense |
possibly damaging |
0.95 |
R7699:Sin3a
|
UTSW |
9 |
57,017,938 (GRCm39) |
nonsense |
probably null |
|
R8150:Sin3a
|
UTSW |
9 |
57,034,568 (GRCm39) |
missense |
possibly damaging |
0.92 |
R8158:Sin3a
|
UTSW |
9 |
57,020,828 (GRCm39) |
critical splice acceptor site |
probably null |
|
R8717:Sin3a
|
UTSW |
9 |
57,034,510 (GRCm39) |
missense |
probably damaging |
0.99 |
R9048:Sin3a
|
UTSW |
9 |
57,032,620 (GRCm39) |
missense |
probably damaging |
0.99 |
R9283:Sin3a
|
UTSW |
9 |
57,002,717 (GRCm39) |
missense |
probably damaging |
0.99 |
R9300:Sin3a
|
UTSW |
9 |
57,014,744 (GRCm39) |
missense |
probably damaging |
1.00 |
R9330:Sin3a
|
UTSW |
9 |
57,032,481 (GRCm39) |
missense |
probably damaging |
1.00 |
R9396:Sin3a
|
UTSW |
9 |
57,008,445 (GRCm39) |
missense |
probably benign |
0.28 |
R9550:Sin3a
|
UTSW |
9 |
56,996,768 (GRCm39) |
missense |
probably benign |
0.00 |
R9746:Sin3a
|
UTSW |
9 |
57,025,358 (GRCm39) |
missense |
probably benign |
0.11 |
RF017:Sin3a
|
UTSW |
9 |
57,034,610 (GRCm39) |
missense |
possibly damaging |
0.90 |
X0026:Sin3a
|
UTSW |
9 |
57,032,476 (GRCm39) |
missense |
probably benign |
0.01 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGAGTACAGTCTTACCTGTC -3'
(R):5'- TCTCTGAAGGAGAAGCCACAC -3'
Sequencing Primer
(F):5'- CAGAGTACAGTCTTACCTGTCTAATC -3'
(R):5'- CACAAGACTTCATGTTAACTTGGTCC -3'
|
Posted On |
2018-06-06 |