Incidental Mutation 'R4326:Sin3a'
| ID |
324369 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3a
|
| Ensembl Gene |
ENSMUSG00000042557 |
| Gene Name |
transcriptional regulator, SIN3A (yeast) |
| Synonyms |
Sin3, mSin3A |
| MMRRC Submission |
041096-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4326 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 57002642 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Leucine to Proline
at position 178
(L178P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000126601
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049169]
[ENSMUST00000163400]
[ENSMUST00000167715]
[ENSMUST00000168177]
[ENSMUST00000168502]
[ENSMUST00000168678]
|
| AlphaFold |
Q60520 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049169
AA Change: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: L178P
| 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: ENSMUST00000163400
AA Change: L119P
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000126718
Gene: ENSMUSG00000042557
AA Change: L119P
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:PAH
|
82 |
128 |
2.1e-21 |
PFAM |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000165927
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000167715
AA Change: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: L178P
| 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: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: L178P
| 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: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: L178P
| 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: L178P
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: L178P
| 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 |
|
| Meta Mutation Damage Score |
0.9686 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.3%
- 20x: 95.4%
|
| Validation Efficiency |
98% (57/58) |
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcd3 |
A |
G |
3: 121,555,119 (GRCm39) |
V616A |
probably benign |
Het |
| Abhd17a |
A |
G |
10: 80,419,884 (GRCm39) |
S241P |
probably benign |
Het |
| Adamts15 |
T |
C |
9: 30,815,814 (GRCm39) |
S681G |
probably benign |
Het |
| Arap2 |
A |
T |
5: 62,779,206 (GRCm39) |
H1461Q |
possibly damaging |
Het |
| Armc3 |
A |
G |
2: 19,305,284 (GRCm39) |
K681E |
probably damaging |
Het |
| Arrdc5 |
T |
C |
17: 56,601,420 (GRCm39) |
E235G |
possibly damaging |
Het |
| Atxn1 |
T |
C |
13: 46,119,443 (GRCm39) |
|
probably benign |
Het |
| C9orf72 |
T |
A |
4: 35,225,985 (GRCm39) |
|
probably benign |
Het |
| Capn13 |
C |
A |
17: 73,638,103 (GRCm39) |
K433N |
probably benign |
Het |
| Ccdc113 |
G |
A |
8: 96,283,896 (GRCm39) |
M323I |
probably benign |
Het |
| Cd55 |
A |
T |
1: 130,380,220 (GRCm39) |
C253S |
probably damaging |
Het |
| Cyp2j8 |
T |
A |
4: 96,395,566 (GRCm39) |
T20S |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,971,066 (GRCm39) |
V2707M |
probably benign |
Het |
| Erlec1 |
C |
T |
11: 30,899,972 (GRCm39) |
E166K |
probably benign |
Het |
| Fastkd2 |
A |
G |
1: 63,791,516 (GRCm39) |
K675E |
probably benign |
Het |
| Gid4 |
G |
A |
11: 60,308,662 (GRCm39) |
V61M |
possibly damaging |
Het |
| Glt28d2 |
G |
A |
3: 85,779,393 (GRCm39) |
Q27* |
probably null |
Het |
| Ipo8 |
A |
T |
6: 148,701,662 (GRCm39) |
|
probably benign |
Het |
| Isx |
A |
G |
8: 75,600,284 (GRCm39) |
I6V |
probably benign |
Het |
| Itsn1 |
A |
G |
16: 91,650,743 (GRCm39) |
|
probably benign |
Het |
| Klhl40 |
A |
G |
9: 121,607,956 (GRCm39) |
D372G |
probably benign |
Het |
| Krt80 |
C |
T |
15: 101,250,189 (GRCm39) |
V19M |
possibly damaging |
Het |
| Lingo2 |
T |
A |
4: 35,708,462 (GRCm39) |
D506V |
probably damaging |
Het |
| Lmo7 |
A |
T |
14: 102,137,510 (GRCm39) |
E504D |
possibly damaging |
Het |
| Lpcat4 |
G |
A |
2: 112,076,737 (GRCm39) |
E454K |
probably benign |
Het |
| Macf1 |
C |
T |
4: 123,276,005 (GRCm39) |
A4176T |
probably damaging |
Het |
| Noxo1 |
G |
A |
17: 24,917,937 (GRCm39) |
R81H |
probably benign |
Het |
| Or10ab4 |
T |
C |
7: 107,654,362 (GRCm39) |
Y58H |
probably damaging |
Het |
| Or7g34 |
T |
A |
9: 19,478,318 (GRCm39) |
M121L |
possibly damaging |
Het |
| Pafah1b1 |
T |
C |
11: 74,573,066 (GRCm39) |
T333A |
probably benign |
Het |
| Pak1ip1 |
A |
G |
13: 41,158,232 (GRCm39) |
D35G |
possibly damaging |
Het |
| Pak3 |
T |
C |
X: 142,516,205 (GRCm39) |
|
probably null |
Het |
| Pcdhb9 |
A |
T |
18: 37,534,875 (GRCm39) |
S290C |
probably benign |
Het |
| Pcdhb9 |
G |
T |
18: 37,534,876 (GRCm39) |
S290I |
probably benign |
Het |
| Ppp2r2d |
T |
A |
7: 138,470,214 (GRCm39) |
V25D |
probably damaging |
Het |
| Prdm15 |
G |
T |
16: 97,607,715 (GRCm39) |
N709K |
probably damaging |
Het |
| Ptprs |
C |
A |
17: 56,754,468 (GRCm39) |
A191S |
possibly damaging |
Het |
| Rrs1 |
G |
T |
1: 9,616,566 (GRCm39) |
R273L |
possibly damaging |
Het |
| Slc13a1 |
A |
G |
6: 24,103,478 (GRCm39) |
V355A |
probably benign |
Het |
| Spen |
T |
G |
4: 141,204,683 (GRCm39) |
N1315H |
unknown |
Het |
| Ssrp1 |
A |
G |
2: 84,870,561 (GRCm39) |
|
probably benign |
Het |
| St7 |
G |
A |
6: 17,819,287 (GRCm39) |
V64M |
probably damaging |
Het |
| Syne2 |
C |
A |
12: 75,999,516 (GRCm39) |
A2304E |
probably damaging |
Het |
| Tcf25 |
T |
A |
8: 124,127,882 (GRCm39) |
L622* |
probably null |
Het |
| Tmem107 |
G |
T |
11: 68,962,301 (GRCm39) |
|
probably null |
Het |
| Tmem62 |
T |
A |
2: 120,810,991 (GRCm39) |
N156K |
probably damaging |
Het |
| Wdr90 |
G |
T |
17: 26,072,705 (GRCm39) |
R884S |
probably benign |
Het |
| Zfp184 |
T |
C |
13: 22,144,072 (GRCm39) |
Y593H |
probably damaging |
Het |
| Zfp934 |
T |
G |
13: 62,665,373 (GRCm39) |
N312H |
probably benign |
Het |
| Zfta |
A |
G |
19: 7,398,591 (GRCm39) |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- CCCAAGTGTATGAATGGCTTTGG -3'
(R):5'- ACCTTGCTGACTTTGGCAG -3'
Sequencing Primer
(F):5'- AAGTGTATGAATGGCTTTGGAATTTG -3'
(R):5'- GCTGAGGAGCTGGCTGAG -3'
|
| Posted On |
2015-06-24 |
Incidental Mutation