Incidental Mutation 'R7510:Sap130'
| ID |
582062 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sap130
|
| Ensembl Gene |
ENSMUSG00000024260 |
| Gene Name |
Sin3A associated protein |
| Synonyms |
2610304F09Rik |
| MMRRC Submission |
045583-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R7510 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
18 |
| Chromosomal Location |
31767424-31856114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31844268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Alanine
at position 813
(T813A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025109]
[ENSMUST00000178164]
|
| AlphaFold |
Q8BIH0 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000025109
AA Change: T813A
PolyPhen 2
Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: T813A
| 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 benign
Transcript: ENSMUST00000178164
AA Change: T814A
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: T814A
| 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 |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 98.0%
|
| Validation Efficiency |
97% (65/67) |
| 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: 63 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atp2b1 |
C |
T |
10: 98,829,758 (GRCm39) |
R320C |
probably benign |
Het |
| Bend4 |
A |
G |
5: 67,584,727 (GRCm39) |
F66L |
unknown |
Het |
| Brca2 |
T |
C |
5: 150,460,156 (GRCm39) |
V477A |
possibly damaging |
Het |
| Brms1l |
A |
T |
12: 55,892,107 (GRCm39) |
K134* |
probably null |
Het |
| Catsper1 |
A |
T |
19: 5,389,578 (GRCm39) |
T498S |
probably benign |
Het |
| Ccdc177 |
C |
A |
12: 80,804,457 (GRCm39) |
V606L |
unknown |
Het |
| D030056L22Rik |
G |
T |
19: 18,690,853 (GRCm39) |
A56S |
possibly damaging |
Het |
| Disp1 |
T |
C |
1: 182,869,975 (GRCm39) |
N815S |
probably damaging |
Het |
| Dsc2 |
C |
T |
18: 20,165,331 (GRCm39) |
G881R |
possibly damaging |
Het |
| Fancf |
A |
G |
7: 51,511,953 (GRCm39) |
V17A |
probably damaging |
Het |
| Fastkd2 |
T |
A |
1: 63,776,948 (GRCm39) |
H361Q |
possibly damaging |
Het |
| Furin |
A |
G |
7: 80,043,333 (GRCm39) |
S293P |
probably damaging |
Het |
| Ghsr |
A |
T |
3: 27,426,523 (GRCm39) |
D193V |
probably benign |
Het |
| Gm14403 |
T |
A |
2: 177,200,403 (GRCm39) |
N116K |
probably benign |
Het |
| Gpr31b |
A |
G |
17: 13,270,557 (GRCm39) |
L204P |
probably damaging |
Het |
| Hexim1 |
A |
G |
11: 103,008,067 (GRCm39) |
E107G |
probably benign |
Het |
| Hspa14 |
T |
C |
2: 3,499,159 (GRCm39) |
S212G |
probably benign |
Het |
| Il18r1 |
T |
A |
1: 40,514,035 (GRCm39) |
H80Q |
probably benign |
Het |
| Itpr3 |
A |
G |
17: 27,308,013 (GRCm39) |
T267A |
probably damaging |
Het |
| Kidins220 |
T |
A |
12: 25,042,268 (GRCm39) |
H146Q |
possibly damaging |
Het |
| Larp4 |
T |
C |
15: 99,891,258 (GRCm39) |
F228L |
probably benign |
Het |
| Ltbp1 |
T |
A |
17: 75,659,712 (GRCm39) |
V1288E |
probably damaging |
Het |
| Madd |
T |
C |
2: 91,008,321 (GRCm39) |
T194A |
possibly damaging |
Het |
| Mlana |
G |
A |
19: 29,682,072 (GRCm39) |
G42S |
probably benign |
Het |
| Mlxipl |
A |
G |
5: 135,161,972 (GRCm39) |
E548G |
possibly damaging |
Het |
| Mmab |
A |
T |
5: 114,573,283 (GRCm39) |
C228S |
probably benign |
Het |
| Mmp1a |
TG |
TGG |
9: 7,465,083 (GRCm38) |
|
probably null |
Het |
| Nrf1 |
C |
T |
6: 30,151,633 (GRCm39) |
T490I |
possibly damaging |
Het |
| Numbl |
A |
G |
7: 26,971,412 (GRCm39) |
|
probably null |
Het |
| Or12e13 |
T |
A |
2: 87,663,872 (GRCm39) |
I163K |
probably damaging |
Het |
| Or13c7 |
A |
G |
4: 43,854,482 (GRCm39) |
T58A |
probably benign |
Het |
| Or5bw2 |
C |
T |
7: 6,572,960 (GRCm39) |
|
probably benign |
Het |
| Or5v1b |
T |
A |
17: 37,841,480 (GRCm39) |
I204N |
probably damaging |
Het |
| Or6c3b |
G |
T |
10: 129,527,789 (GRCm39) |
N40K |
probably damaging |
Het |
| Or9g8 |
T |
A |
2: 85,607,153 (GRCm39) |
V75D |
probably damaging |
Het |
| Papln |
G |
A |
12: 83,818,947 (GRCm39) |
D96N |
probably damaging |
Het |
| Pcdhb14 |
T |
C |
18: 37,582,645 (GRCm39) |
Y584H |
probably damaging |
Het |
| Pde7b |
T |
C |
10: 20,288,761 (GRCm39) |
D310G |
possibly damaging |
Het |
| Plin5 |
T |
A |
17: 56,420,975 (GRCm39) |
H230L |
probably damaging |
Het |
| Ppp1r13l |
A |
C |
7: 19,102,726 (GRCm39) |
E47A |
possibly damaging |
Het |
| Prdm5 |
C |
T |
6: 65,904,976 (GRCm39) |
H536Y |
probably damaging |
Het |
| Prickle2 |
T |
C |
6: 92,353,451 (GRCm39) |
R728G |
possibly damaging |
Het |
| Prkca |
A |
T |
11: 107,874,820 (GRCm39) |
V374E |
possibly damaging |
Het |
| Prss3 |
A |
T |
6: 41,352,044 (GRCm39) |
L73* |
probably null |
Het |
| Prss51 |
G |
A |
14: 64,333,489 (GRCm39) |
D33N |
probably damaging |
Het |
| Rfwd3 |
A |
G |
8: 112,006,659 (GRCm39) |
V479A |
probably damaging |
Het |
| Rpl36a-ps1 |
G |
A |
14: 99,231,666 (GRCm39) |
T24I |
probably benign |
Het |
| Rps6ka5 |
T |
C |
12: 100,582,327 (GRCm39) |
I182V |
possibly damaging |
Het |
| Saa2 |
T |
A |
7: 46,402,933 (GRCm39) |
D61E |
probably damaging |
Het |
| Samd3 |
A |
T |
10: 26,106,006 (GRCm39) |
I22F |
probably benign |
Het |
| Scfd2 |
A |
G |
5: 74,372,988 (GRCm39) |
F629S |
probably damaging |
Het |
| Sec61a1 |
A |
T |
6: 88,489,585 (GRCm39) |
F119I |
probably benign |
Het |
| Serpinb9 |
T |
A |
13: 33,194,768 (GRCm39) |
F175I |
probably damaging |
Het |
| Slc12a3 |
G |
T |
8: 95,092,477 (GRCm39) |
C966F |
probably damaging |
Het |
| Sptbn4 |
A |
G |
7: 27,127,693 (GRCm39) |
V169A |
probably benign |
Het |
| Synj1 |
A |
G |
16: 90,735,565 (GRCm39) |
S1463P |
probably benign |
Het |
| Tfec |
T |
A |
6: 16,835,232 (GRCm39) |
H182L |
probably benign |
Het |
| Tigd5 |
T |
C |
15: 75,782,268 (GRCm39) |
V210A |
probably benign |
Het |
| Tssc4 |
G |
A |
7: 142,623,718 (GRCm39) |
E9K |
possibly damaging |
Het |
| Txk |
C |
G |
5: 72,893,726 (GRCm39) |
C18S |
unknown |
Het |
| Uaca |
G |
A |
9: 60,757,487 (GRCm39) |
|
probably null |
Het |
| Vmn2r1 |
A |
C |
3: 63,993,922 (GRCm39) |
K89N |
probably damaging |
Het |
| Zfp160 |
G |
A |
17: 21,246,655 (GRCm39) |
E402K |
probably benign |
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 |
|
|
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 |
31,800,057 (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'- TTCACAGTGCCTGCCTCAATTAG -3'
(R):5'- ACTCTTTGGGAGGAGACTTGC -3'
Sequencing Primer
(F):5'- CAGTGCCTGCCTCAATTAGAATATG -3'
(R):5'- AGGAGACTTGCGCTTCTCAG -3'
|
| Posted On |
2019-10-17 |
Incidental Mutation