Incidental Mutation 'IGL02673:Sin3a'
| ID |
303019 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| 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 # |
IGL02673
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
9 |
| Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 57014725 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamine to Lysine
at position 649
(Q649K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049169]
[ENSMUST00000167715]
[ENSMUST00000168177]
[ENSMUST00000168502]
[ENSMUST00000168678]
|
| AlphaFold |
Q60520 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049169
AA Change: Q649K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: Q649K
| 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 |
probably damaging
Transcript: ENSMUST00000167715
AA Change: Q649K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: Q649K
| 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 |
probably damaging
Transcript: ENSMUST00000168177
AA Change: Q649K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: Q649K
| 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 |
probably damaging
Transcript: ENSMUST00000168502
AA Change: Q649K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: Q649K
| 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 |
probably damaging
Transcript: ENSMUST00000168678
AA Change: Q649K
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: Q649K
| 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 |
|
| 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: 43 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 9930012K11Rik |
T |
A |
14: 70,395,056 (GRCm39) |
T33S |
probably benign |
Het |
| Abca4 |
T |
C |
3: 121,897,150 (GRCm39) |
Y610H |
probably damaging |
Het |
| Agl |
A |
T |
3: 116,575,248 (GRCm39) |
C630S |
probably benign |
Het |
| Alkbh6 |
G |
T |
7: 30,013,536 (GRCm39) |
G202C |
probably damaging |
Het |
| Ascc3 |
A |
T |
10: 50,536,769 (GRCm39) |
M701L |
probably benign |
Het |
| Bpgm |
T |
A |
6: 34,464,769 (GRCm39) |
L162Q |
probably damaging |
Het |
| Ccdc150 |
A |
G |
1: 54,368,149 (GRCm39) |
T592A |
probably benign |
Het |
| Chpf2 |
G |
A |
5: 24,796,302 (GRCm39) |
R416Q |
probably benign |
Het |
| Col14a1 |
G |
A |
15: 55,282,178 (GRCm39) |
G813E |
unknown |
Het |
| Col18a1 |
C |
T |
10: 76,894,997 (GRCm39) |
G983D |
probably damaging |
Het |
| Col5a1 |
C |
T |
2: 27,864,727 (GRCm39) |
A737V |
unknown |
Het |
| Cyp2a22 |
T |
G |
7: 26,637,525 (GRCm39) |
K157Q |
probably benign |
Het |
| Dhx57 |
A |
G |
17: 80,574,974 (GRCm39) |
V668A |
probably damaging |
Het |
| Eps8l1 |
T |
A |
7: 4,481,731 (GRCm39) |
V743E |
probably damaging |
Het |
| Fnbp4 |
C |
T |
2: 90,593,816 (GRCm39) |
T557M |
probably benign |
Het |
| Fzd5 |
C |
T |
1: 64,774,265 (GRCm39) |
E499K |
possibly damaging |
Het |
| Gm57858 |
A |
C |
3: 36,100,848 (GRCm39) |
|
probably benign |
Het |
| Il1r2 |
A |
G |
1: 40,154,323 (GRCm39) |
Y230C |
probably damaging |
Het |
| Insrr |
A |
C |
3: 87,720,368 (GRCm39) |
E1002A |
possibly damaging |
Het |
| Kdm4a |
C |
T |
4: 118,025,769 (GRCm39) |
D146N |
probably benign |
Het |
| Kidins220 |
G |
A |
12: 25,044,991 (GRCm39) |
V262M |
probably damaging |
Het |
| Kif26b |
C |
T |
1: 178,649,170 (GRCm39) |
P430L |
probably damaging |
Het |
| Mamdc4 |
T |
C |
2: 25,460,066 (GRCm39) |
S62G |
probably benign |
Het |
| Mcu |
C |
A |
10: 59,303,466 (GRCm39) |
V124F |
probably damaging |
Het |
| Mlf1 |
A |
G |
3: 67,301,280 (GRCm39) |
M98V |
probably benign |
Het |
| Mogs |
T |
C |
6: 83,095,199 (GRCm39) |
V672A |
probably damaging |
Het |
| Ntrk3 |
T |
C |
7: 77,900,512 (GRCm39) |
D609G |
probably damaging |
Het |
| Or1n1 |
C |
T |
2: 36,750,188 (GRCm39) |
M57I |
probably benign |
Het |
| Pdlim5 |
T |
A |
3: 142,058,548 (GRCm39) |
E65D |
probably damaging |
Het |
| Peg3 |
T |
C |
7: 6,713,413 (GRCm39) |
N603S |
probably damaging |
Het |
| Pkd1 |
A |
G |
17: 24,790,257 (GRCm39) |
Y980C |
probably benign |
Het |
| Rack1 |
A |
G |
11: 48,691,357 (GRCm39) |
T23A |
probably benign |
Het |
| Rad50 |
A |
T |
11: 53,579,067 (GRCm39) |
I497K |
probably benign |
Het |
| Sirt6 |
A |
G |
10: 81,461,671 (GRCm39) |
F46L |
probably damaging |
Het |
| Slc40a1 |
A |
T |
1: 45,957,576 (GRCm39) |
I136N |
possibly damaging |
Het |
| Sspo |
G |
A |
6: 48,452,794 (GRCm39) |
R2834H |
probably damaging |
Het |
| Sspo |
G |
T |
6: 48,475,709 (GRCm39) |
|
probably null |
Het |
| Sycp2 |
T |
A |
2: 178,036,004 (GRCm39) |
T228S |
possibly damaging |
Het |
| Uhrf2 |
T |
A |
19: 30,070,207 (GRCm39) |
N785K |
probably damaging |
Het |
| Vmn2r58 |
T |
A |
7: 41,514,082 (GRCm39) |
Y187F |
possibly damaging |
Het |
| Vmn2r80 |
A |
G |
10: 79,005,318 (GRCm39) |
I318M |
probably benign |
Het |
| Vps13c |
T |
C |
9: 67,785,380 (GRCm39) |
L249P |
probably damaging |
Het |
| Zw10 |
T |
A |
9: 48,988,893 (GRCm39) |
|
probably null |
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 |
|
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 |
|
|
R6456:Sin3a
|
UTSW |
9 |
57,020,985 (GRCm39) |
missense |
possibly damaging |
0.79 |
|
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 |
|
| Posted On |
2015-04-16 |
Incidental Mutation