Incidental Mutation 'R5391:Sin3a'
| ID |
425857 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3a
|
| Ensembl Gene |
ENSMUSG00000042557 |
| Gene Name |
transcriptional regulator, SIN3A (yeast) |
| Synonyms |
Sin3, mSin3A |
| MMRRC Submission |
042963-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5391 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
9 |
| Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 57012957 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 612
(R612H)
|
| 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: R612H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: R612H
| 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: R612H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: R612H
| 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: R612H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: R612H
| 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: R612H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: R612H
| 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: R612H
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: R612H
| 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: 99.3%
- 3x: 98.7%
- 10x: 97.4%
- 20x: 95.6%
|
| 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 |
|---|
| Abcb1b |
G |
A |
5: 8,855,481 (GRCm39) |
M38I |
probably null |
Het |
| Actl7a |
A |
G |
4: 56,743,661 (GRCm39) |
T63A |
probably benign |
Het |
| Amfr |
G |
A |
8: 94,702,676 (GRCm39) |
P497S |
probably damaging |
Het |
| Ankrd33b |
T |
C |
15: 31,325,352 (GRCm39) |
I122V |
probably damaging |
Het |
| Asap1 |
G |
T |
15: 63,965,901 (GRCm39) |
T1011K |
possibly damaging |
Het |
| Cbfa2t3 |
G |
A |
8: 123,360,134 (GRCm39) |
R506* |
probably null |
Het |
| Ccs |
C |
G |
19: 4,883,510 (GRCm39) |
C96S |
probably benign |
Het |
| Cpt1a |
A |
G |
19: 3,399,260 (GRCm39) |
D20G |
probably damaging |
Het |
| Ctdspl2 |
G |
A |
2: 121,834,629 (GRCm39) |
|
probably null |
Het |
| Dhx57 |
T |
C |
17: 80,582,510 (GRCm39) |
Y365C |
probably damaging |
Het |
| Dnah3 |
C |
T |
7: 119,689,299 (GRCm39) |
M38I |
probably benign |
Het |
| Dnajc6 |
T |
C |
4: 101,485,355 (GRCm39) |
|
probably null |
Het |
| Elac2 |
A |
G |
11: 64,885,120 (GRCm39) |
S450G |
probably benign |
Het |
| Gdf9 |
T |
C |
11: 53,324,624 (GRCm39) |
V131A |
probably benign |
Het |
| Il12rb2 |
T |
C |
6: 67,269,404 (GRCm39) |
N803S |
probably benign |
Het |
| Itgb4 |
T |
A |
11: 115,875,894 (GRCm39) |
M477K |
probably benign |
Het |
| Itgb8 |
A |
C |
12: 119,134,476 (GRCm39) |
C530W |
probably damaging |
Het |
| Krt78 |
C |
A |
15: 101,860,263 (GRCm39) |
E218* |
probably null |
Het |
| Lpar1 |
A |
G |
4: 58,486,902 (GRCm39) |
L105P |
probably damaging |
Het |
| Megf8 |
G |
A |
7: 25,039,714 (GRCm39) |
G936D |
possibly damaging |
Het |
| Mov10 |
G |
A |
3: 104,709,849 (GRCm39) |
H346Y |
probably benign |
Het |
| Nfia |
A |
G |
4: 97,671,538 (GRCm39) |
I83V |
probably damaging |
Het |
| Or5b101 |
G |
T |
19: 13,005,150 (GRCm39) |
A181E |
probably damaging |
Het |
| Or6d15 |
T |
C |
6: 116,559,808 (GRCm39) |
Y33C |
probably damaging |
Het |
| Pcdhgb6 |
T |
G |
18: 37,875,640 (GRCm39) |
I116S |
probably damaging |
Het |
| Pdcd6ip |
G |
T |
9: 113,520,586 (GRCm39) |
Q133K |
probably damaging |
Het |
| Phkb |
A |
G |
8: 86,744,097 (GRCm39) |
D582G |
probably damaging |
Het |
| Pik3cd |
A |
T |
4: 149,743,588 (GRCm39) |
V207E |
probably damaging |
Het |
| Ptov1 |
T |
C |
7: 44,513,008 (GRCm39) |
Q397R |
probably damaging |
Het |
| Rangap1 |
A |
G |
15: 81,590,647 (GRCm39) |
F482L |
probably benign |
Het |
| Rapgef1 |
T |
A |
2: 29,627,977 (GRCm39) |
N1052K |
probably damaging |
Het |
| Rasl12 |
G |
T |
9: 65,305,949 (GRCm39) |
A35S |
probably damaging |
Het |
| Rnf169 |
A |
T |
7: 99,584,367 (GRCm39) |
|
probably null |
Het |
| Sec16a |
A |
G |
2: 26,330,044 (GRCm39) |
V657A |
possibly damaging |
Het |
| Six6 |
T |
A |
12: 72,988,475 (GRCm39) |
L216* |
probably null |
Het |
| Tbce |
T |
C |
13: 14,180,550 (GRCm39) |
I293M |
probably damaging |
Het |
| Tektl1 |
G |
A |
10: 78,588,688 (GRCm39) |
Q41* |
probably null |
Het |
| Tmem176a |
T |
C |
6: 48,821,630 (GRCm39) |
L204P |
probably damaging |
Het |
| Tmem87a |
A |
G |
2: 120,193,358 (GRCm39) |
|
probably null |
Het |
| Tns1 |
A |
T |
1: 74,029,568 (GRCm39) |
|
probably null |
Het |
| Usf3 |
T |
A |
16: 44,037,826 (GRCm39) |
S769T |
probably benign |
Het |
| Vmn2r82 |
A |
G |
10: 79,192,491 (GRCm39) |
T23A |
probably null |
Het |
| Vps26a |
A |
G |
10: 62,292,526 (GRCm39) |
*328Q |
probably null |
Het |
| Vps51 |
T |
G |
19: 6,121,063 (GRCm39) |
E283D |
probably benign |
Het |
| Wwc2 |
A |
T |
8: 48,316,906 (GRCm39) |
I729K |
unknown |
Het |
| Zbtb44 |
A |
G |
9: 30,964,601 (GRCm39) |
|
probably null |
Het |
| Zfp800 |
A |
T |
6: 28,242,992 (GRCm39) |
S658T |
probably damaging |
Het |
| Zfp825 |
T |
C |
13: 74,628,665 (GRCm39) |
T284A |
possibly damaging |
Het |
| Zfp935 |
G |
T |
13: 62,602,632 (GRCm39) |
Y189* |
probably null |
Het |
| Zkscan1 |
T |
A |
5: 138,095,363 (GRCm39) |
H203Q |
probably benign |
Het |
| Zkscan14 |
T |
C |
5: 145,132,604 (GRCm39) |
D309G |
probably benign |
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCAAATTTAAAGTTTGGGCTAATGC -3'
(R):5'- TCCCAGCTACGACCTTTACAG -3'
Sequencing Primer
(F):5'- GGGCTAATGCTAGTTGATTTTTCCCC -3'
(R):5'- CCAGCTACGACCTTTACAGTTTAAG -3'
|
| Posted On |
2016-08-04 |
Incidental Mutation