Incidental Mutation 'R6900:Sin3a'
| ID |
538491 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3a
|
| Ensembl Gene |
ENSMUSG00000042557 |
| Gene Name |
transcriptional regulator, SIN3A (yeast) |
| Synonyms |
Sin3, mSin3A |
| MMRRC Submission |
044994-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6900 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57014858 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 693
(V693A)
|
| 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: V693A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: V693A
| 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: ENSMUST00000167715
AA Change: V693A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: V693A
| 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: V693A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: V693A
| 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: V693A
PolyPhen 2
Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
|
| SMART Domains |
Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: V693A
| 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: V693A
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: V693A
| 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: 100.0%
- 3x: 99.9%
- 10x: 99.3%
- 20x: 97.7%
|
| Validation Efficiency |
100% (32/32) |
| 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: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Arhgap10 |
T |
C |
8: 78,037,491 (GRCm39) |
D579G |
probably damaging |
Het |
| Cc2d2b |
A |
G |
19: 40,813,518 (GRCm39) |
S1333G |
probably null |
Het |
| Cep250 |
A |
G |
2: 155,838,190 (GRCm39) |
|
probably null |
Het |
| Chd3 |
T |
C |
11: 69,245,271 (GRCm39) |
D1149G |
possibly damaging |
Het |
| Dnah7a |
A |
G |
1: 53,701,510 (GRCm39) |
L215P |
probably damaging |
Het |
| Fbn2 |
T |
C |
18: 58,209,903 (GRCm39) |
M993V |
probably benign |
Het |
| Ggt5 |
A |
T |
10: 75,446,371 (GRCm39) |
Q523L |
possibly damaging |
Het |
| Hcn1 |
A |
G |
13: 117,793,363 (GRCm39) |
N205S |
probably benign |
Het |
| Htr1b |
A |
T |
9: 81,513,623 (GRCm39) |
I328N |
probably damaging |
Het |
| Itgav |
T |
A |
2: 83,633,591 (GRCm39) |
F980Y |
probably damaging |
Het |
| Kbtbd2 |
A |
G |
6: 56,757,008 (GRCm39) |
S243P |
probably damaging |
Het |
| Kcnd2 |
A |
G |
6: 21,216,587 (GRCm39) |
N97S |
probably damaging |
Het |
| Kifbp |
T |
C |
10: 62,394,908 (GRCm39) |
Y578C |
probably damaging |
Het |
| Lars1 |
T |
C |
18: 42,367,675 (GRCm39) |
K468E |
probably benign |
Het |
| Map3k1 |
T |
C |
13: 111,890,350 (GRCm39) |
N1283S |
probably benign |
Het |
| Mapk8ip3 |
A |
T |
17: 25,128,097 (GRCm39) |
|
probably null |
Het |
| Mroh2b |
A |
G |
15: 4,938,469 (GRCm39) |
I253V |
probably benign |
Het |
| Nup98 |
A |
G |
7: 101,835,169 (GRCm39) |
F228S |
probably damaging |
Het |
| Or4k1 |
A |
T |
14: 50,377,295 (GRCm39) |
V267E |
possibly damaging |
Het |
| Pdzd2 |
A |
G |
15: 12,374,123 (GRCm39) |
F2004S |
probably benign |
Het |
| Pkhd1 |
A |
T |
1: 20,604,925 (GRCm39) |
L1130Q |
probably benign |
Het |
| Pparg |
G |
T |
6: 115,449,949 (GRCm39) |
R286L |
possibly damaging |
Het |
| Ppp1r16a |
A |
G |
15: 76,575,923 (GRCm39) |
S96G |
probably damaging |
Het |
| Psg29 |
C |
T |
7: 16,938,857 (GRCm39) |
Q44* |
probably null |
Het |
| Rgs22 |
A |
G |
15: 36,010,893 (GRCm39) |
F1227S |
possibly damaging |
Het |
| Saxo1 |
T |
C |
4: 86,363,571 (GRCm39) |
D304G |
possibly damaging |
Het |
| Sec14l1 |
T |
C |
11: 117,008,049 (GRCm39) |
Y12H |
probably damaging |
Het |
| Sh3bp4 |
A |
G |
1: 89,073,489 (GRCm39) |
N779S |
probably benign |
Het |
| Teddm1b |
G |
A |
1: 153,750,956 (GRCm39) |
C255Y |
probably benign |
Het |
| Ttk |
T |
A |
9: 83,754,083 (GRCm39) |
S819T |
probably damaging |
Het |
| Zfp362 |
C |
T |
4: 128,679,808 (GRCm39) |
C273Y |
probably 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 |
|
|
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 |
|
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'- TAGGCCTGAGACCCTCTTTG -3'
(R):5'- ACCCCTAACGTATGTTCTGC -3'
Sequencing Primer
(F):5'- GTGGTTCTTGAGACCAATCTTGCAAC -3'
(R):5'- AACGTATGTTCTGCCATTCTACTC -3'
|
| Posted On |
2018-11-06 |
Incidental Mutation