Incidental Mutation 'R1162:Sap130'
| ID |
100531 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sap130
|
| Ensembl Gene |
ENSMUSG00000024260 |
| Gene Name |
Sin3A associated protein |
| Synonyms |
2610304F09Rik |
| MMRRC Submission |
039235-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R1162 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
31767424-31856114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 31781226 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 130
(P130S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000136842
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025109]
[ENSMUST00000178164]
|
| AlphaFold |
Q8BIH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025109
AA Change: P130S
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: P130S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
low complexity region
|
716 |
748 |
N/A |
INTRINSIC |
|
low complexity region
|
751 |
770 |
N/A |
INTRINSIC |
|
low complexity region
|
817 |
832 |
N/A |
INTRINSIC |
|
low complexity region
|
894 |
904 |
N/A |
INTRINSIC |
|
low complexity region
|
1044 |
1056 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000178164
AA Change: P130S
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: P130S
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
82 |
107 |
N/A |
INTRINSIC |
|
low complexity region
|
115 |
124 |
N/A |
INTRINSIC |
|
low complexity region
|
347 |
356 |
N/A |
INTRINSIC |
|
low complexity region
|
389 |
400 |
N/A |
INTRINSIC |
|
low complexity region
|
577 |
588 |
N/A |
INTRINSIC |
|
Pfam:SAP130_C
|
635 |
1040 |
5.4e-224 |
PFAM |
|
low complexity region
|
1045 |
1057 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0989 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.2%
- 10x: 96.0%
- 20x: 91.9%
|
| Validation Efficiency |
98% (55/56) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] SAP130 is a subunit of the histone deacetylase (see HDAC1; MIM 601241)-dependent SIN3A (MIM 607776) corepressor complex (Fleischer et al., 2003 [PubMed 12724404]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a transposon insertion are viable and fertile. [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 |
|---|
| 9430015G10Rik |
T |
C |
4: 156,206,875 (GRCm39) |
|
probably null |
Het |
| Adamts12 |
T |
A |
15: 11,277,544 (GRCm39) |
|
probably null |
Het |
| Ccn3 |
T |
A |
15: 54,611,178 (GRCm39) |
C104* |
probably null |
Het |
| Cops4 |
T |
C |
5: 100,678,023 (GRCm39) |
|
probably benign |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Dgkh |
A |
G |
14: 78,861,891 (GRCm39) |
C125R |
probably damaging |
Het |
| Dgkz |
A |
T |
2: 91,774,789 (GRCm39) |
I65N |
probably damaging |
Het |
| Dock10 |
T |
A |
1: 80,546,559 (GRCm39) |
H743L |
possibly damaging |
Het |
| Dscaml1 |
T |
C |
9: 45,663,647 (GRCm39) |
|
probably benign |
Het |
| Flt4 |
C |
T |
11: 49,527,166 (GRCm39) |
|
probably benign |
Het |
| Gbe1 |
A |
T |
16: 70,178,738 (GRCm39) |
|
probably benign |
Het |
| Gm7275 |
A |
G |
16: 47,894,395 (GRCm39) |
|
noncoding transcript |
Het |
| Gpatch1 |
A |
G |
7: 35,002,905 (GRCm39) |
|
probably benign |
Het |
| Gpr137c |
A |
G |
14: 45,481,615 (GRCm39) |
I144V |
possibly damaging |
Het |
| Igsf9b |
T |
C |
9: 27,238,185 (GRCm39) |
S563P |
probably benign |
Het |
| Insl5 |
C |
T |
4: 102,875,438 (GRCm39) |
R104Q |
probably benign |
Het |
| Kcnj2 |
T |
A |
11: 110,963,793 (GRCm39) |
V395D |
probably benign |
Het |
| Ksr2 |
A |
G |
5: 117,693,020 (GRCm39) |
|
probably benign |
Het |
| Lrrc4 |
C |
A |
6: 28,831,083 (GRCm39) |
L177F |
probably damaging |
Het |
| Mapkbp1 |
A |
G |
2: 119,855,799 (GRCm39) |
E1506G |
possibly damaging |
Het |
| Morc3 |
A |
C |
16: 93,649,996 (GRCm39) |
Y259S |
probably damaging |
Het |
| Mrpl43 |
T |
G |
19: 44,994,797 (GRCm39) |
S13R |
possibly damaging |
Het |
| Myh4 |
A |
G |
11: 67,149,439 (GRCm39) |
N1724D |
probably damaging |
Het |
| Nab1 |
A |
G |
1: 52,529,186 (GRCm39) |
M237T |
probably damaging |
Het |
| Nav2 |
A |
G |
7: 49,185,788 (GRCm39) |
|
probably benign |
Het |
| Nfix |
G |
A |
8: 85,453,155 (GRCm39) |
R300C |
probably damaging |
Het |
| Nup155 |
A |
T |
15: 8,187,244 (GRCm39) |
H1391L |
probably damaging |
Het |
| Or2h15 |
A |
T |
17: 38,441,984 (GRCm39) |
V33D |
possibly damaging |
Het |
| Or5ac15 |
T |
C |
16: 58,939,735 (GRCm39) |
R233G |
probably damaging |
Het |
| Or5p80 |
A |
G |
7: 108,230,120 (GRCm39) |
N307S |
probably benign |
Het |
| Phf2 |
A |
T |
13: 48,973,117 (GRCm39) |
|
probably benign |
Het |
| Ppef2 |
A |
C |
5: 92,400,980 (GRCm39) |
F13L |
probably benign |
Het |
| Pwwp4a |
G |
T |
X: 72,171,261 (GRCm39) |
G218C |
probably damaging |
Het |
| Scn11a |
A |
G |
9: 119,634,710 (GRCm39) |
|
probably benign |
Het |
| Sec31b |
C |
A |
19: 44,506,087 (GRCm39) |
E940* |
probably null |
Het |
| Sgce |
A |
G |
6: 4,691,419 (GRCm39) |
|
probably benign |
Het |
| Sh3glb2 |
A |
T |
2: 30,240,600 (GRCm39) |
I155N |
probably damaging |
Het |
| Sirt2 |
A |
T |
7: 28,485,247 (GRCm39) |
D218V |
probably damaging |
Het |
| Slc16a10 |
T |
C |
10: 39,952,549 (GRCm39) |
H315R |
probably benign |
Het |
| Sox5 |
A |
G |
6: 143,906,538 (GRCm39) |
Y306H |
probably damaging |
Het |
| Sucla2 |
C |
T |
14: 73,798,074 (GRCm39) |
|
probably benign |
Het |
| Tab2 |
A |
G |
10: 7,800,483 (GRCm39) |
V23A |
probably damaging |
Het |
| Trak1 |
G |
T |
9: 121,282,407 (GRCm39) |
V429F |
possibly damaging |
Het |
| Trat1 |
T |
C |
16: 48,560,572 (GRCm39) |
S102G |
possibly damaging |
Het |
| Trub1 |
G |
A |
19: 57,461,191 (GRCm39) |
V156I |
probably benign |
Het |
| Tspan32 |
T |
A |
7: 142,560,735 (GRCm39) |
M61K |
probably damaging |
Het |
| Unc13a |
T |
A |
8: 72,100,561 (GRCm39) |
T1076S |
probably benign |
Het |
| Vangl2 |
A |
G |
1: 171,832,414 (GRCm39) |
Y481H |
probably damaging |
Het |
| Vmn2r105 |
C |
T |
17: 20,447,973 (GRCm39) |
E284K |
probably benign |
Het |
| Vmn2r60 |
A |
T |
7: 41,845,195 (GRCm39) |
I853F |
probably benign |
Het |
| Yrdc |
T |
C |
4: 124,748,254 (GRCm39) |
|
probably benign |
Het |
| Zfp595 |
A |
T |
13: 67,465,259 (GRCm39) |
C335S |
probably damaging |
Het |
| Zfp872 |
A |
G |
9: 22,110,910 (GRCm39) |
S149G |
possibly damaging |
Het |
|
| Other mutations in Sap130 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00158:Sap130
|
APN |
18 |
31,831,819 (GRCm39) |
missense |
probably benign |
0.00 |
|
IGL01060:Sap130
|
APN |
18 |
31,848,496 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01668:Sap130
|
APN |
18 |
31,813,493 (GRCm39) |
missense |
probably damaging |
0.97 |
|
IGL01797:Sap130
|
APN |
18 |
31,831,721 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL01872:Sap130
|
APN |
18 |
31,807,473 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02010:Sap130
|
APN |
18 |
31,782,655 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Beggar
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
|
PIT4142001:Sap130
|
UTSW |
18 |
31,800,064 (GRCm39) |
critical splice donor site |
probably null |
|
|
PIT4366001:Sap130
|
UTSW |
18 |
31,810,462 (GRCm39) |
missense |
probably benign |
0.06 |
|
R0083:Sap130
|
UTSW |
18 |
31,844,694 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0083:Sap130
|
UTSW |
18 |
31,799,382 (GRCm39) |
splice site |
probably benign |
|
|
R0243:Sap130
|
UTSW |
18 |
31,813,734 (GRCm39) |
splice site |
probably benign |
|
|
R0255:Sap130
|
UTSW |
18 |
31,813,559 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0704:Sap130
|
UTSW |
18 |
31,786,607 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1069:Sap130
|
UTSW |
18 |
31,844,682 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R1086:Sap130
|
UTSW |
18 |
31,783,673 (GRCm39) |
splice site |
probably benign |
|
|
R1478:Sap130
|
UTSW |
18 |
31,813,527 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R1484:Sap130
|
UTSW |
18 |
31,844,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1554:Sap130
|
UTSW |
18 |
31,799,525 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1625:Sap130
|
UTSW |
18 |
31,807,517 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1771:Sap130
|
UTSW |
18 |
31,769,135 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1793:Sap130
|
UTSW |
18 |
31,831,640 (GRCm39) |
missense |
probably benign |
0.10 |
|
R1905:Sap130
|
UTSW |
18 |
31,813,620 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R2026:Sap130
|
UTSW |
18 |
31,831,627 (GRCm39) |
missense |
possibly damaging |
0.81 |
|
R2074:Sap130
|
UTSW |
18 |
31,781,332 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R2174:Sap130
|
UTSW |
18 |
31,810,532 (GRCm39) |
critical splice donor site |
probably null |
|
|
R3927:Sap130
|
UTSW |
18 |
31,807,435 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4454:Sap130
|
UTSW |
18 |
31,844,413 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4980:Sap130
|
UTSW |
18 |
31,782,699 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R5222:Sap130
|
UTSW |
18 |
31,799,756 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5345:Sap130
|
UTSW |
18 |
31,781,251 (GRCm39) |
missense |
probably benign |
0.32 |
|
R5811:Sap130
|
UTSW |
18 |
31,822,495 (GRCm39) |
missense |
probably benign |
0.01 |
|
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6034:Sap130
|
UTSW |
18 |
31,822,459 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6038:Sap130
|
UTSW |
18 |
31,813,539 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R6129:Sap130
|
UTSW |
18 |
31,815,144 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6431:Sap130
|
UTSW |
18 |
31,799,418 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R6930:Sap130
|
UTSW |
18 |
31,815,141 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R6932:Sap130
|
UTSW |
18 |
31,799,407 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R7454:Sap130
|
UTSW |
18 |
31,783,565 (GRCm39) |
missense |
probably benign |
0.01 |
|
R7510:Sap130
|
UTSW |
18 |
31,844,268 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7510:Sap130
|
UTSW |
18 |
31,800,057 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7641:Sap130
|
UTSW |
18 |
31,786,676 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R7870:Sap130
|
UTSW |
18 |
31,853,714 (GRCm39) |
missense |
probably benign |
0.15 |
|
R7980:Sap130
|
UTSW |
18 |
31,781,182 (GRCm39) |
splice site |
probably null |
|
|
R8772:Sap130
|
UTSW |
18 |
31,813,517 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9135:Sap130
|
UTSW |
18 |
31,780,116 (GRCm39) |
missense |
probably benign |
|
|
R9639:Sap130
|
UTSW |
18 |
31,844,789 (GRCm39) |
critical splice donor site |
probably null |
|
|
X0021:Sap130
|
UTSW |
18 |
31,780,129 (GRCm39) |
missense |
probably benign |
|
|
| Predicted Primers |
|
| Posted On |
2014-01-15 |
Incidental Mutation