Incidental Mutation 'R7870:Sap130'
| ID |
608078 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Sap130
|
| Ensembl Gene |
ENSMUSG00000024260 |
| Gene Name |
Sin3A associated protein |
| Synonyms |
2610304F09Rik |
| MMRRC Submission |
045922-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.946)
|
| Stock # |
R7870 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
18 |
| Chromosomal Location |
31767424-31856114 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 31853714 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Serine
at position 968
(N968S)
|
| 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: N968S
PolyPhen 2
Score 0.149 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000025109
Gene: ENSMUSG00000024260
AA Change: N968S
| 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: N969S
PolyPhen 2
Score 0.012 (Sensitivity: 0.96; Specificity: 0.78)
|
| SMART Domains |
Protein: ENSMUSP00000136842
Gene: ENSMUSG00000024260
AA Change: N969S
| 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: 99.7%
- 20x: 99.0%
|
| 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: 57 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700017N19Rik |
T |
A |
10: 100,441,505 (GRCm39) |
F171L |
probably benign |
Het |
| 2410137M14Rik |
A |
T |
17: 37,288,909 (GRCm39) |
C152S |
unknown |
Het |
| Alb |
T |
C |
5: 90,620,488 (GRCm39) |
F533L |
possibly damaging |
Het |
| Alox12b |
T |
C |
11: 69,060,135 (GRCm39) |
M616T |
possibly damaging |
Het |
| Atxn2l |
A |
G |
7: 126,091,924 (GRCm39) |
F968L |
probably benign |
Het |
| Cadps2 |
G |
T |
6: 23,263,641 (GRCm39) |
H1227Q |
probably benign |
Het |
| Cdh18 |
A |
T |
15: 23,474,413 (GRCm39) |
D761V |
possibly damaging |
Het |
| Cdkl3 |
T |
C |
11: 51,909,284 (GRCm39) |
|
probably null |
Het |
| Chrdl2 |
T |
C |
7: 99,659,249 (GRCm39) |
L9P |
unknown |
Het |
| Ctr9 |
A |
G |
7: 110,651,618 (GRCm39) |
E946G |
unknown |
Het |
| Cygb |
T |
A |
11: 116,540,116 (GRCm39) |
T178S |
probably benign |
Het |
| Cyp2c67 |
A |
C |
19: 39,597,669 (GRCm39) |
M443R |
probably damaging |
Het |
| Dnah12 |
A |
G |
14: 26,578,486 (GRCm39) |
T3082A |
probably benign |
Het |
| Flnc |
C |
T |
6: 29,454,306 (GRCm39) |
T1906I |
probably damaging |
Het |
| Gm14496 |
A |
G |
2: 181,637,906 (GRCm39) |
I327V |
probably benign |
Het |
| Gm29106 |
T |
A |
1: 118,126,885 (GRCm39) |
N192K |
possibly damaging |
Het |
| H3f3a |
A |
T |
1: 180,639,490 (GRCm39) |
M1K |
probably null |
Het |
| Htt |
T |
A |
5: 35,055,891 (GRCm39) |
W2601R |
possibly damaging |
Het |
| Il18r1 |
T |
A |
1: 40,530,296 (GRCm39) |
I341K |
probably benign |
Het |
| Kcnj1 |
G |
A |
9: 32,307,881 (GRCm39) |
V102I |
probably benign |
Het |
| Lrp3 |
C |
A |
7: 34,910,922 (GRCm39) |
G41V |
probably damaging |
Het |
| Lrrc9 |
G |
T |
12: 72,532,964 (GRCm39) |
K944N |
probably damaging |
Het |
| Mettl21e |
T |
A |
1: 44,249,371 (GRCm39) |
E95V |
probably damaging |
Het |
| Mib1 |
G |
A |
18: 10,798,446 (GRCm39) |
R769Q |
possibly damaging |
Het |
| Myh7 |
C |
G |
14: 55,226,258 (GRCm39) |
D461H |
probably damaging |
Het |
| Mymk |
A |
G |
2: 26,952,298 (GRCm39) |
S190P |
probably damaging |
Het |
| Neb |
G |
A |
2: 52,215,761 (GRCm39) |
P182L |
probably damaging |
Het |
| Nfil3 |
A |
G |
13: 53,122,449 (GRCm39) |
Y152H |
probably damaging |
Het |
| Nisch |
A |
G |
14: 30,894,052 (GRCm39) |
Y1174H |
probably damaging |
Het |
| Nyap1 |
G |
C |
5: 137,733,658 (GRCm39) |
Y458* |
probably null |
Het |
| Or4d5 |
A |
C |
9: 40,011,973 (GRCm39) |
V271G |
possibly damaging |
Het |
| Or52z13 |
T |
A |
7: 103,247,473 (GRCm39) |
C317S |
probably damaging |
Het |
| Or5h17 |
G |
A |
16: 58,820,086 (GRCm39) |
V13I |
probably benign |
Het |
| Pars2 |
T |
A |
4: 106,511,276 (GRCm39) |
Y353N |
probably damaging |
Het |
| Patj |
G |
T |
4: 98,312,553 (GRCm39) |
G297V |
probably damaging |
Het |
| Pcdh9 |
A |
T |
14: 94,124,693 (GRCm39) |
S492R |
probably damaging |
Het |
| Pcyox1 |
G |
A |
6: 86,369,323 (GRCm39) |
R168C |
probably damaging |
Het |
| Plbd1 |
A |
T |
6: 136,594,326 (GRCm39) |
Y308N |
possibly damaging |
Het |
| Rax |
A |
G |
18: 66,071,284 (GRCm39) |
V117A |
probably benign |
Het |
| Rdh9 |
C |
A |
10: 127,612,566 (GRCm39) |
N71K |
probably benign |
Het |
| Sema5a |
A |
T |
15: 32,609,485 (GRCm39) |
I464F |
probably benign |
Het |
| Sez6l |
T |
G |
5: 112,586,447 (GRCm39) |
D683A |
probably damaging |
Het |
| Slit2 |
C |
A |
5: 48,459,649 (GRCm39) |
P1310T |
probably damaging |
Het |
| Snap47 |
T |
C |
11: 59,328,904 (GRCm39) |
M133V |
probably benign |
Het |
| Son |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
TACCATGGACTCCCAGATGTTAGCCTCTAGCACCATGGACTCCCAGATGTTAGCAACTAGCACCATGGACTCCCAGATGTTAGC |
16: 91,453,486 (GRCm39) |
|
probably benign |
Het |
| Srcap |
G |
A |
7: 127,159,730 (GRCm39) |
S3202N |
unknown |
Het |
| Ssh2 |
T |
C |
11: 77,344,441 (GRCm39) |
W809R |
probably benign |
Het |
| Stau1 |
G |
T |
2: 166,792,870 (GRCm39) |
A365D |
possibly damaging |
Het |
| Tfpi2 |
A |
G |
6: 3,968,281 (GRCm39) |
L15P |
probably damaging |
Het |
| Thbs1 |
A |
T |
2: 117,945,508 (GRCm39) |
N329I |
possibly damaging |
Het |
| Tmem65 |
A |
T |
15: 58,659,010 (GRCm39) |
D184E |
probably damaging |
Het |
| Trpm6 |
G |
T |
19: 18,792,605 (GRCm39) |
E676D |
probably benign |
Het |
| Vdr |
T |
G |
15: 97,782,771 (GRCm39) |
D17A |
possibly damaging |
Het |
| Vmn1r123 |
C |
T |
7: 20,896,192 (GRCm39) |
T28I |
probably damaging |
Het |
| Wdr90 |
A |
G |
17: 26,079,513 (GRCm39) |
L207P |
probably damaging |
Het |
| Zfp354c |
TGTCACACTCG |
TG |
11: 50,706,065 (GRCm39) |
|
probably benign |
Het |
| Zfp598 |
A |
G |
17: 24,898,304 (GRCm39) |
E402G |
probably 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 |
|
|
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 |
|
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'- TCGAAGATAGGCTATGATCTATGG -3'
(R):5'- TCAAAATGACTGTTTCTAGGTAGGC -3'
Sequencing Primer
(F):5'- GGCTATGATCTATGGCAAATTATAGG -3'
(R):5'- TCCAGGCTGTCTTGAAAAGC -3'
|
| Posted On |
2019-12-20 |
Incidental Mutation