Incidental Mutation 'R9048:Sin3a'
| ID |
688187 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sin3a
|
| Ensembl Gene |
ENSMUSG00000042557 |
| Gene Name |
transcriptional regulator, SIN3A (yeast) |
| Synonyms |
Sin3, mSin3A |
| MMRRC Submission |
068874-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R9048 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
9 |
| Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 57032620 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Aspartic acid to Glycine
at position 1188
(D1188G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000130221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000049169]
[ENSMUST00000167715]
[ENSMUST00000168177]
[ENSMUST00000168502]
[ENSMUST00000168678]
|
| AlphaFold |
Q60520 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000049169
AA Change: D1185G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000045044
Gene: ENSMUSG00000042557
AA Change: D1185G
| 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: D1185G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000130641
Gene: ENSMUSG00000042557
AA Change: D1185G
| 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: D1188G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000130221
Gene: ENSMUSG00000042557
AA Change: D1188G
| 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: D1188G
PolyPhen 2
Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000128956
Gene: ENSMUSG00000042557
AA Change: D1188G
| 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: D1185G
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000126601
Gene: ENSMUSG00000042557
AA Change: D1185G
| 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: 99.6%
- 20x: 98.5%
|
| Validation Efficiency |
100% (53/53) |
| 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: 53 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ahcyl |
A |
T |
16: 45,974,558 (GRCm39) |
V273D |
probably damaging |
Het |
| Als2 |
C |
T |
1: 59,225,670 (GRCm39) |
V947M |
possibly damaging |
Het |
| Bltp1 |
T |
C |
3: 37,065,926 (GRCm39) |
S67P |
|
Het |
| Bmp6 |
C |
T |
13: 38,682,778 (GRCm39) |
T453I |
probably damaging |
Het |
| Ccdc141 |
T |
C |
2: 76,853,872 (GRCm39) |
K1092R |
probably damaging |
Het |
| Ces1f |
T |
C |
8: 93,989,695 (GRCm39) |
D407G |
probably benign |
Het |
| Cfap46 |
G |
T |
7: 139,207,259 (GRCm39) |
H1887N |
unknown |
Het |
| Cldn10 |
G |
A |
14: 119,025,656 (GRCm39) |
V30M |
probably damaging |
Het |
| Col4a1 |
T |
A |
8: 11,281,944 (GRCm39) |
|
probably benign |
Het |
| Cyria |
G |
A |
12: 12,412,286 (GRCm39) |
A183T |
probably damaging |
Het |
| Dmac2l |
C |
T |
12: 69,787,752 (GRCm39) |
R63C |
probably damaging |
Het |
| Enpp7 |
A |
G |
11: 118,881,455 (GRCm39) |
H200R |
probably damaging |
Het |
| Entrep3 |
T |
C |
3: 89,093,048 (GRCm39) |
Y269H |
probably damaging |
Het |
| Epb41l3 |
C |
T |
17: 69,517,218 (GRCm39) |
A82V |
probably benign |
Het |
| Exph5 |
A |
G |
9: 53,284,935 (GRCm39) |
H672R |
possibly damaging |
Het |
| Glce |
A |
T |
9: 61,967,413 (GRCm39) |
Y579* |
probably null |
Het |
| Gm9507 |
G |
A |
10: 77,647,245 (GRCm39) |
P145S |
unknown |
Het |
| Igf2 |
A |
T |
7: 142,207,759 (GRCm39) |
F113I |
probably benign |
Het |
| Il1a |
T |
C |
2: 129,148,441 (GRCm39) |
S90G |
probably benign |
Het |
| Kalrn |
A |
G |
16: 33,854,854 (GRCm39) |
I2002T |
possibly damaging |
Het |
| Kng2 |
G |
A |
16: 22,806,522 (GRCm39) |
T559I |
probably benign |
Het |
| Leng8 |
A |
G |
7: 4,146,931 (GRCm39) |
|
probably benign |
Het |
| Lpcat2 |
G |
T |
8: 93,635,878 (GRCm39) |
A427S |
probably benign |
Het |
| Mapk14 |
A |
G |
17: 28,947,358 (GRCm39) |
T175A |
probably benign |
Het |
| Mei1 |
C |
A |
15: 81,969,036 (GRCm39) |
S329* |
probably null |
Het |
| Mfsd2a |
A |
G |
4: 122,854,768 (GRCm39) |
I20T |
probably benign |
Het |
| Mtcl1 |
T |
C |
17: 66,678,331 (GRCm39) |
N665S |
probably benign |
Het |
| Mup5 |
T |
A |
4: 61,750,612 (GRCm39) |
Q177L |
probably benign |
Het |
| Nkx6-2 |
A |
G |
7: 139,161,876 (GRCm39) |
F167S |
probably damaging |
Het |
| Or10j5 |
T |
C |
1: 172,784,929 (GRCm39) |
V189A |
probably benign |
Het |
| Or13c7b |
T |
C |
4: 43,820,584 (GRCm39) |
Y259C |
probably damaging |
Het |
| Or2t26 |
G |
A |
11: 49,039,830 (GRCm39) |
V249I |
probably damaging |
Het |
| Or2y1c |
T |
A |
11: 49,361,880 (GRCm39) |
W301R |
probably benign |
Het |
| Or55b3 |
A |
T |
7: 102,126,684 (GRCm39) |
I131N |
probably damaging |
Het |
| Or5h18 |
G |
A |
16: 58,847,598 (GRCm39) |
T224I |
probably benign |
Het |
| Pgap6 |
T |
C |
17: 26,340,515 (GRCm39) |
V633A |
probably damaging |
Het |
| Phyh |
A |
T |
2: 4,932,249 (GRCm39) |
M112L |
probably benign |
Het |
| Pip5k1c |
C |
A |
10: 81,152,710 (GRCm39) |
|
probably benign |
Het |
| Pkn1 |
G |
A |
8: 84,424,663 (GRCm39) |
R11C |
possibly damaging |
Het |
| Podn |
G |
C |
4: 107,878,596 (GRCm39) |
R424G |
probably damaging |
Het |
| Ptdss2 |
A |
G |
7: 140,732,797 (GRCm39) |
D222G |
probably damaging |
Het |
| Ryk |
A |
T |
9: 102,774,468 (GRCm39) |
M401L |
probably benign |
Het |
| Sec61g |
A |
G |
11: 16,458,129 (GRCm39) |
V22A |
probably benign |
Het |
| Septin8 |
A |
G |
11: 53,427,530 (GRCm39) |
N250D |
probably damaging |
Het |
| Siglecg |
T |
C |
7: 43,058,003 (GRCm39) |
L7P |
probably benign |
Het |
| Sipa1l2 |
G |
A |
8: 126,174,465 (GRCm39) |
T1271M |
possibly damaging |
Het |
| Stard9 |
T |
A |
2: 120,508,415 (GRCm39) |
L241H |
probably damaging |
Het |
| Stx8 |
A |
G |
11: 67,902,211 (GRCm39) |
T132A |
probably damaging |
Het |
| Stxbp2 |
A |
G |
8: 3,687,218 (GRCm39) |
I403V |
|
Het |
| Stxbp3 |
A |
T |
3: 108,723,704 (GRCm39) |
M177K |
probably benign |
Het |
| Supt16 |
T |
A |
14: 52,418,513 (GRCm39) |
Q248L |
probably damaging |
Het |
| Vmn2r91 |
A |
T |
17: 18,356,122 (GRCm39) |
L596F |
probably benign |
Het |
| Zkscan3 |
T |
C |
13: 21,580,686 (GRCm39) |
M1V |
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 |
|
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 |
|
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 |
|
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'- ACATTTGGTAGGAGCCGTGG -3'
(R):5'- TGGTACTGTTATAAGGTCCTTAGC -3'
Sequencing Primer
(F):5'- GTCTATCAACTTAAAGGGATTTCTGC -3'
(R):5'- ACTGTTATAAGGTCCTTAGCAAATG -3'
|
| Posted On |
2021-11-19 |
Incidental Mutation