Incidental Mutation 'IGL00158:Sap130'
| ID |
306556 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Sap130
|
| Ensembl Gene |
ENSMUSG00000024260 |
| Gene Name |
Sin3A associated protein |
| Synonyms |
2610304F09Rik |
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.951)
|
| Stock # |
IGL00158
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
18 |
| Chromosomal Location |
31767424-31856114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to A
at 31831819 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Proline to Threonine
at position 769
(P769T)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000025109
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000025109]
[ENSMUST00000178164]
|
| AlphaFold |
Q8BIH0 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000025109
AA Change: P769T
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: P769T
| 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: P770T
PolyPhen 2
Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
|
| SMART Domains |
Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: P770T
| 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 |
|
| Validation Efficiency |
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abhd3 |
T |
A |
18: 10,647,869 (GRCm39) |
D300V |
possibly damaging |
Het |
| Agap1 |
A |
G |
1: 89,591,518 (GRCm39) |
|
probably benign |
Het |
| Best3 |
A |
G |
10: 116,840,446 (GRCm39) |
|
probably benign |
Het |
| Cfap43 |
T |
G |
19: 47,818,914 (GRCm39) |
I125L |
probably benign |
Het |
| Cntn1 |
A |
G |
15: 92,148,758 (GRCm39) |
E335G |
possibly damaging |
Het |
| Csmd3 |
A |
T |
15: 48,150,891 (GRCm39) |
S396T |
possibly damaging |
Het |
| Cxxc5 |
T |
G |
18: 35,993,745 (GRCm39) |
*318G |
probably null |
Het |
| Dpep3 |
T |
C |
8: 106,705,779 (GRCm39) |
T49A |
probably benign |
Het |
| Elf1 |
T |
A |
14: 79,817,789 (GRCm39) |
M436K |
possibly damaging |
Het |
| Ephx2 |
T |
G |
14: 66,330,286 (GRCm39) |
I310L |
probably benign |
Het |
| Fancm |
A |
G |
12: 65,122,510 (GRCm39) |
T11A |
possibly damaging |
Het |
| Ganab |
G |
T |
19: 8,879,959 (GRCm39) |
A73S |
probably benign |
Het |
| Glp1r |
T |
G |
17: 31,120,891 (GRCm39) |
L14R |
possibly damaging |
Het |
| Kif14 |
G |
A |
1: 136,396,756 (GRCm39) |
S354N |
probably benign |
Het |
| Krtap9-1 |
C |
T |
11: 99,764,680 (GRCm39) |
P139S |
unknown |
Het |
| L2hgdh |
T |
C |
12: 69,748,208 (GRCm39) |
D306G |
possibly damaging |
Het |
| Liat1 |
T |
C |
11: 75,894,192 (GRCm39) |
S190P |
probably benign |
Het |
| Lrriq4 |
A |
G |
3: 30,705,104 (GRCm39) |
|
probably null |
Het |
| Mbd3 |
T |
G |
10: 80,229,717 (GRCm39) |
|
probably benign |
Het |
| Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
| Mug1 |
T |
C |
6: 121,842,768 (GRCm39) |
S585P |
probably damaging |
Het |
| Nat8f4 |
C |
A |
6: 85,877,969 (GRCm39) |
A185S |
probably benign |
Het |
| Nlrc5 |
C |
T |
8: 95,228,839 (GRCm39) |
|
probably benign |
Het |
| Or8b12 |
T |
A |
9: 37,657,685 (GRCm39) |
I85N |
possibly damaging |
Het |
| Or8g23 |
T |
A |
9: 38,971,159 (GRCm39) |
M268L |
probably benign |
Het |
| Peg3 |
T |
A |
7: 6,713,273 (GRCm39) |
I650F |
probably benign |
Het |
| Prom1 |
A |
T |
5: 44,213,279 (GRCm39) |
N142K |
probably damaging |
Het |
| Qser1 |
T |
A |
2: 104,596,401 (GRCm39) |
D1537V |
probably damaging |
Het |
| Rbm44 |
T |
A |
1: 91,084,831 (GRCm39) |
D684E |
probably benign |
Het |
| Rnf19a |
A |
C |
15: 36,265,948 (GRCm39) |
S50A |
probably damaging |
Het |
| Rnf31 |
A |
G |
14: 55,829,776 (GRCm39) |
|
probably null |
Het |
| Rspry1 |
A |
G |
8: 95,349,614 (GRCm39) |
M1V |
probably null |
Het |
| Rspry1 |
A |
T |
8: 95,349,608 (GRCm39) |
|
probably benign |
Het |
| Slc22a16 |
T |
A |
10: 40,471,278 (GRCm39) |
M483K |
probably damaging |
Het |
| Slc27a1 |
T |
C |
8: 72,037,416 (GRCm39) |
|
probably null |
Het |
| Slc35a5 |
A |
T |
16: 44,972,971 (GRCm39) |
C65* |
probably null |
Het |
| Sox4 |
C |
A |
13: 29,136,956 (GRCm39) |
G17W |
probably damaging |
Het |
| Ubqlnl |
T |
C |
7: 103,798,372 (GRCm39) |
E375G |
probably benign |
Het |
| Uggt2 |
G |
A |
14: 119,286,688 (GRCm39) |
T692I |
possibly damaging |
Het |
| Vmn1r211 |
A |
T |
13: 23,036,272 (GRCm39) |
C132S |
probably benign |
Het |
| Vmn2r61 |
A |
T |
7: 41,950,175 (GRCm39) |
N865I |
possibly damaging |
Het |
| Vmn2r73 |
A |
T |
7: 85,506,795 (GRCm39) |
M839K |
|
Het |
| Xrn2 |
T |
A |
2: 146,878,670 (GRCm39) |
S455R |
probably benign |
Het |
| Zan |
T |
A |
5: 137,452,519 (GRCm39) |
T1521S |
unknown |
Het |
| Zfp326 |
A |
G |
5: 106,054,911 (GRCm39) |
M361V |
possibly damaging |
Het |
| Zfp472 |
A |
G |
17: 33,196,498 (GRCm39) |
Y191C |
possibly damaging |
Het |
|
| Other mutations in Sap130 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
31,844,268 (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 |
|
|
| Posted On |
2015-04-16 |
Incidental Mutation