Incidental Mutation 'R5927:Sin3a'
ID |
459956 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Sin3a
|
Ensembl Gene |
ENSMUSG00000042557 |
Gene Name |
transcriptional regulator, SIN3A (yeast) |
Synonyms |
Sin3, mSin3A |
MMRRC Submission |
044122-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R5927 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
9 |
Chromosomal Location |
56979324-57035650 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to T
at 57018395 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Methionine
at position 938
(K938M)
|
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: K938M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000045044 Gene: ENSMUSG00000042557 AA Change: K938M
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: K938M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130641 Gene: ENSMUSG00000042557 AA Change: K938M
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: ENSMUST00000167963
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000168177
AA Change: K938M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000130221 Gene: ENSMUSG00000042557 AA Change: K938M
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: K938M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000128956 Gene: ENSMUSG00000042557 AA Change: K938M
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: K938M
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000126601 Gene: ENSMUSG00000042557 AA Change: K938M
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 |
0.2784 |
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.0%
- 20x: 94.0%
|
Validation Efficiency |
100% (73/73) |
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: 65 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acadm |
T |
A |
3: 153,644,745 (GRCm39) |
I60F |
probably damaging |
Het |
Ankrd26 |
A |
G |
6: 118,484,597 (GRCm39) |
|
probably null |
Het |
Arhgdib |
A |
T |
6: 136,901,136 (GRCm39) |
W198R |
probably damaging |
Het |
Atad5 |
T |
A |
11: 80,018,111 (GRCm39) |
I1354N |
probably damaging |
Het |
Ccdc146 |
T |
A |
5: 21,513,619 (GRCm39) |
K500* |
probably null |
Het |
Cdk11b |
G |
A |
4: 155,732,697 (GRCm39) |
|
probably benign |
Het |
Cmip |
A |
T |
8: 117,984,048 (GRCm39) |
T70S |
possibly damaging |
Het |
Col22a1 |
G |
T |
15: 71,878,815 (GRCm39) |
A114E |
probably damaging |
Het |
Cpeb1 |
T |
C |
7: 81,011,428 (GRCm39) |
D171G |
possibly damaging |
Het |
Crebzf |
C |
T |
7: 90,093,531 (GRCm39) |
|
probably benign |
Het |
Cybb |
C |
G |
X: 9,316,989 (GRCm39) |
D246H |
probably benign |
Het |
D630036H23Rik |
C |
A |
12: 36,431,671 (GRCm39) |
|
probably benign |
Het |
Dnah5 |
A |
T |
15: 28,335,864 (GRCm39) |
T2277S |
probably benign |
Het |
Dysf |
T |
A |
6: 84,184,194 (GRCm39) |
F2083Y |
probably damaging |
Het |
Elavl4 |
T |
A |
4: 110,147,440 (GRCm39) |
|
probably benign |
Het |
Elp3 |
A |
G |
14: 65,819,626 (GRCm39) |
Y111H |
probably damaging |
Het |
Eps8l2 |
A |
T |
7: 140,936,259 (GRCm39) |
Q243L |
probably benign |
Het |
Eri2 |
C |
A |
7: 119,385,291 (GRCm39) |
L403F |
probably damaging |
Het |
Fgfr4 |
T |
A |
13: 55,314,700 (GRCm39) |
N614K |
probably damaging |
Het |
Gm5108 |
T |
G |
5: 68,134,214 (GRCm39) |
I74S |
unknown |
Het |
Gpn1 |
T |
C |
5: 31,658,235 (GRCm39) |
F130L |
probably damaging |
Het |
Gpr176 |
T |
A |
2: 118,203,521 (GRCm39) |
I50F |
probably benign |
Het |
Gramd1a |
A |
G |
7: 30,839,246 (GRCm39) |
S221P |
probably benign |
Het |
Hivep3 |
A |
G |
4: 119,954,305 (GRCm39) |
T874A |
possibly damaging |
Het |
Igkv12-40 |
A |
G |
6: 69,856,383 (GRCm39) |
|
noncoding transcript |
Het |
Itgb2 |
C |
A |
10: 77,381,868 (GRCm39) |
P57T |
probably damaging |
Het |
Kcmf1 |
T |
A |
6: 72,819,988 (GRCm39) |
D286V |
possibly damaging |
Het |
Kcnt1 |
T |
A |
2: 25,799,388 (GRCm39) |
|
probably benign |
Het |
Kif15 |
A |
G |
9: 122,846,326 (GRCm39) |
S76G |
probably benign |
Het |
Kpna3 |
C |
T |
14: 61,622,096 (GRCm39) |
V223I |
probably damaging |
Het |
Krt80 |
A |
G |
15: 101,262,089 (GRCm39) |
|
probably benign |
Het |
Lama4 |
A |
G |
10: 38,948,808 (GRCm39) |
Y857C |
probably damaging |
Het |
Lcorl |
G |
T |
5: 45,882,766 (GRCm39) |
|
probably benign |
Het |
Map4k3 |
A |
G |
17: 80,921,348 (GRCm39) |
V528A |
probably benign |
Het |
Mmp8 |
T |
A |
9: 7,563,203 (GRCm39) |
N255K |
possibly damaging |
Het |
Npat |
A |
T |
9: 53,473,521 (GRCm39) |
K438* |
probably null |
Het |
Or4a73 |
T |
A |
2: 89,421,444 (GRCm39) |
N5I |
possibly damaging |
Het |
P4htm |
T |
C |
9: 108,474,582 (GRCm39) |
Y61C |
probably damaging |
Het |
Pgap6 |
T |
C |
17: 26,340,972 (GRCm39) |
Y692H |
probably benign |
Het |
Polr3h |
G |
T |
15: 81,801,480 (GRCm39) |
|
probably null |
Het |
Prlr |
C |
T |
15: 10,322,532 (GRCm39) |
T176I |
probably benign |
Het |
Psme4 |
T |
G |
11: 30,754,294 (GRCm39) |
F184V |
possibly damaging |
Het |
Ptgfrn |
A |
T |
3: 100,967,968 (GRCm39) |
F542I |
possibly damaging |
Het |
Rock1 |
T |
C |
18: 10,116,792 (GRCm39) |
E448G |
probably damaging |
Het |
Rpf1 |
A |
T |
3: 146,225,218 (GRCm39) |
|
probably null |
Het |
Sectm1b |
T |
C |
11: 120,946,500 (GRCm39) |
I132V |
probably benign |
Het |
Sestd1 |
T |
A |
2: 77,017,503 (GRCm39) |
H688L |
probably benign |
Het |
Sidt2 |
T |
C |
9: 45,855,752 (GRCm39) |
Y530C |
probably damaging |
Het |
Sin3b |
C |
A |
8: 73,476,506 (GRCm39) |
R647S |
probably benign |
Het |
Slc16a14 |
T |
C |
1: 84,889,988 (GRCm39) |
H439R |
possibly damaging |
Het |
Stc1 |
T |
C |
14: 69,269,822 (GRCm39) |
V134A |
probably benign |
Het |
Stk11ip |
G |
A |
1: 75,501,335 (GRCm39) |
V24I |
possibly damaging |
Het |
Tbx6 |
G |
A |
7: 126,384,025 (GRCm39) |
A359T |
possibly damaging |
Het |
Thra |
G |
A |
11: 98,654,514 (GRCm39) |
V295I |
possibly damaging |
Het |
Tnr |
T |
C |
1: 159,740,336 (GRCm39) |
M1170T |
probably damaging |
Het |
Tpcn2 |
T |
A |
7: 144,832,521 (GRCm39) |
I112F |
probably damaging |
Het |
Trdv2-2 |
T |
C |
14: 54,198,998 (GRCm39) |
L96P |
probably damaging |
Het |
Trim24 |
T |
A |
6: 37,935,504 (GRCm39) |
W832R |
probably damaging |
Het |
Usp4 |
T |
G |
9: 108,268,959 (GRCm39) |
S891A |
probably benign |
Het |
Vmn1r88 |
A |
T |
7: 12,912,440 (GRCm39) |
R265S |
probably benign |
Het |
Vmn2r118 |
A |
G |
17: 55,931,494 (GRCm39) |
L60S |
probably benign |
Het |
Wdr74 |
T |
C |
19: 8,717,197 (GRCm39) |
C220R |
possibly damaging |
Het |
Xpo1 |
A |
T |
11: 23,218,653 (GRCm39) |
|
probably benign |
Het |
Xpo1 |
A |
T |
11: 23,218,656 (GRCm39) |
|
probably benign |
Het |
Zfp850 |
C |
A |
7: 27,689,620 (GRCm39) |
G196V |
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 |
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 |
|
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'- TGCTATTTAGTAACACAGCAGCTC -3'
(R):5'- ACAAGGTTCCATGCTTGCATC -3'
Sequencing Primer
(F):5'- TTTAGTAACACAGCAGCTCAAAAG -3'
(R):5'- CATTCATGGGTTCAAGGAAGGTTAC -3'
|
Posted On |
2017-02-28 |