Incidental Mutation 'R0083:Sap130'
| ID |
150635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sap130
|
| Ensembl Gene |
ENSMUSG00000024260 |
| Gene Name |
Sin3A associated protein |
| Synonyms |
2610304F09Rik |
| MMRRC Submission |
038370-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
R0083 (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 31844694 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Serine
at position 902
(P902S)
|
| 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: P901S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: P901S
| 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: P902S
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: P902S
| 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 |
0.1040 |
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 97.8%
- 10x: 94.0%
- 20x: 83.1%
|
| Validation Efficiency |
88% (117/133) |
| 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: 59 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4930562C15Rik |
A |
T |
16: 4,667,406 (GRCm39) |
I266F |
unknown |
Het |
| Adam39 |
T |
G |
8: 41,278,115 (GRCm39) |
F169V |
probably damaging |
Het |
| Adcy2 |
A |
T |
13: 68,800,054 (GRCm39) |
V858E |
probably damaging |
Het |
| Adgrv1 |
A |
G |
13: 81,726,523 (GRCm39) |
|
probably benign |
Het |
| Ankrd26 |
G |
T |
6: 118,500,215 (GRCm39) |
H1085Q |
probably benign |
Het |
| Ass1 |
A |
T |
2: 31,404,831 (GRCm39) |
N371Y |
probably damaging |
Het |
| Atg4c |
C |
T |
4: 99,109,677 (GRCm39) |
H215Y |
possibly damaging |
Het |
| Atp6v0d2 |
G |
A |
4: 19,880,001 (GRCm39) |
|
probably benign |
Het |
| Bcl2 |
G |
A |
1: 106,640,292 (GRCm39) |
R107C |
probably damaging |
Het |
| C1qtnf3 |
G |
A |
15: 10,975,718 (GRCm39) |
V175I |
possibly damaging |
Het |
| Cacna1c |
A |
G |
6: 118,602,484 (GRCm39) |
M1293T |
probably damaging |
Het |
| Ccdc88a |
T |
A |
11: 29,453,463 (GRCm39) |
S337T |
probably damaging |
Het |
| Cntn4 |
A |
G |
6: 106,502,330 (GRCm39) |
I362M |
possibly damaging |
Het |
| Col22a1 |
A |
T |
15: 71,762,346 (GRCm39) |
D104E |
possibly damaging |
Het |
| Col4a4 |
T |
C |
1: 82,484,832 (GRCm39) |
|
probably null |
Het |
| Cul7 |
C |
A |
17: 46,966,482 (GRCm39) |
R304S |
probably benign |
Het |
| Elfn2 |
A |
T |
15: 78,557,614 (GRCm39) |
L311Q |
probably damaging |
Het |
| Esrrb |
T |
C |
12: 86,561,226 (GRCm39) |
L320P |
probably damaging |
Het |
| Fads2b |
A |
T |
2: 85,324,476 (GRCm39) |
F283L |
possibly damaging |
Het |
| Fbxw10 |
A |
G |
11: 62,767,887 (GRCm39) |
T903A |
probably benign |
Het |
| Fkbp4 |
G |
A |
6: 128,409,370 (GRCm39) |
|
probably benign |
Het |
| Gatad2b |
T |
A |
3: 90,265,250 (GRCm39) |
Y576N |
probably damaging |
Het |
| Greb1 |
T |
C |
12: 16,746,452 (GRCm39) |
M1273V |
probably benign |
Het |
| Helq |
C |
A |
5: 100,916,234 (GRCm39) |
E913* |
probably null |
Het |
| Inpp4b |
C |
A |
8: 82,468,091 (GRCm39) |
A18E |
possibly damaging |
Het |
| Ints13 |
A |
G |
6: 146,452,162 (GRCm39) |
Y686H |
probably benign |
Het |
| Itgb7 |
C |
T |
15: 102,131,917 (GRCm39) |
R222H |
probably damaging |
Het |
| Krt81 |
A |
G |
15: 101,361,346 (GRCm39) |
I78T |
probably damaging |
Het |
| Lonp2 |
G |
A |
8: 87,442,983 (GRCm39) |
V815I |
probably benign |
Het |
| Mctp2 |
G |
T |
7: 71,878,264 (GRCm39) |
F271L |
possibly damaging |
Het |
| Mrto4 |
C |
T |
4: 139,075,279 (GRCm39) |
V175I |
possibly damaging |
Het |
| Myh14 |
A |
G |
7: 44,283,943 (GRCm39) |
V654A |
probably damaging |
Het |
| Neu2 |
A |
G |
1: 87,524,984 (GRCm39) |
Y323C |
probably damaging |
Het |
| Nt5dc1 |
A |
C |
10: 34,279,760 (GRCm39) |
M94R |
probably damaging |
Het |
| Nup210l |
A |
G |
3: 90,096,882 (GRCm39) |
T1364A |
probably damaging |
Het |
| Obscn |
T |
C |
11: 58,913,200 (GRCm39) |
D6939G |
probably damaging |
Het |
| Or10q1b |
A |
T |
19: 13,683,042 (GRCm39) |
T284S |
probably damaging |
Het |
| Pias4 |
A |
G |
10: 81,000,000 (GRCm39) |
S18P |
probably damaging |
Het |
| Plcl1 |
A |
G |
1: 55,737,098 (GRCm39) |
Y813C |
possibly damaging |
Het |
| Plk5 |
G |
A |
10: 80,192,496 (GRCm39) |
G34S |
possibly damaging |
Het |
| Ptprj |
A |
T |
2: 90,300,121 (GRCm39) |
|
probably null |
Het |
| Rps6ka2 |
G |
A |
17: 7,563,442 (GRCm39) |
D617N |
probably benign |
Het |
| Sec11a |
A |
G |
7: 80,584,787 (GRCm39) |
V50A |
probably damaging |
Het |
| Sel1l3 |
C |
T |
5: 53,295,244 (GRCm39) |
A786T |
possibly damaging |
Het |
| Shroom1 |
T |
C |
11: 53,357,764 (GRCm39) |
S772P |
possibly damaging |
Het |
| Slc15a2 |
T |
C |
16: 36,602,645 (GRCm39) |
Y72C |
probably damaging |
Het |
| Slc26a6 |
T |
C |
9: 108,736,312 (GRCm39) |
|
probably null |
Het |
| Slc30a5 |
G |
T |
13: 100,939,908 (GRCm39) |
A669E |
probably damaging |
Het |
| Sppl2c |
G |
A |
11: 104,077,358 (GRCm39) |
V53I |
probably benign |
Het |
| Sstr1 |
T |
A |
12: 58,260,528 (GRCm39) |
C384S |
possibly damaging |
Het |
| Sulf1 |
A |
G |
1: 12,887,641 (GRCm39) |
M272V |
probably damaging |
Het |
| Tm6sf1 |
G |
A |
7: 81,515,093 (GRCm39) |
|
probably null |
Het |
| Tmem94 |
A |
G |
11: 115,687,550 (GRCm39) |
|
probably benign |
Het |
| Topaz1 |
A |
T |
9: 122,604,674 (GRCm39) |
I1093L |
probably benign |
Het |
| Ttll4 |
G |
T |
1: 74,718,928 (GRCm39) |
V260L |
probably benign |
Het |
| Vmn2r26 |
A |
T |
6: 124,030,940 (GRCm39) |
|
probably null |
Het |
| Vmn2r75 |
G |
A |
7: 85,814,866 (GRCm39) |
A209V |
probably benign |
Het |
| Zfand3 |
A |
G |
17: 30,354,372 (GRCm39) |
E63G |
probably damaging |
Het |
| Zfp939 |
A |
T |
7: 39,123,534 (GRCm39) |
|
noncoding transcript |
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 |
31,799,382 (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 |
|
|
R1162:Sap130
|
UTSW |
18 |
31,781,226 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
PCR Primer
(F):5'- ATGAGAAGTCCGCTGCCAAGAGTC -3'
(R):5'- GTACTTGAGGAGCTGTCAGCACAC -3'
Sequencing Primer
(F):5'- CTGCCAAGAGTCTCCTGGTAAAG -3'
(R):5'- GCTGTCAGCACACAGAATG -3'
|
| Posted On |
2014-01-23 |
Incidental Mutation