Incidental Mutation 'IGL00476:Kat2a'
ID |
277558 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kat2a
|
Ensembl Gene |
ENSMUSG00000020918 |
Gene Name |
K(lysine) acetyltransferase 2A |
Synonyms |
Gcn5l2, PCAF-B/GCN5, 1110051E14Rik, Gcn5 |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00476
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to A
at 100596210 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Arginine to Tryptophan
at position 782
(R782W)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006973]
[ENSMUST00000017974]
[ENSMUST00000103118]
|
AlphaFold |
Q9JHD2 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000006973
AA Change: R782W
PolyPhen 2
Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000006973 Gene: ENSMUSG00000020918 AA Change: R782W
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
72 |
N/A |
INTRINSIC |
Pfam:PCAF_N
|
81 |
332 |
1.2e-155 |
PFAM |
low complexity region
|
398 |
417 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_7
|
538 |
621 |
5e-13 |
PFAM |
Pfam:Acetyltransf_1
|
545 |
620 |
3.2e-11 |
PFAM |
low complexity region
|
659 |
675 |
N/A |
INTRINSIC |
BROMO
|
718 |
826 |
6.87e-38 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000017974
|
SMART Domains |
Protein: ENSMUSP00000017974 Gene: ENSMUSG00000017830
Domain | Start | End | E-Value | Type |
DEXDc
|
2 |
207 |
2.86e-22 |
SMART |
HELICc
|
387 |
475 |
3.85e-14 |
SMART |
Blast:HELICc
|
497 |
543 |
4e-12 |
BLAST |
Pfam:RIG-I_C-RD
|
552 |
667 |
1.5e-37 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000103118
AA Change: R783W
PolyPhen 2
Score 0.991 (Sensitivity: 0.71; Specificity: 0.97)
|
SMART Domains |
Protein: ENSMUSP00000099407 Gene: ENSMUSG00000020918 AA Change: R783W
Domain | Start | End | E-Value | Type |
low complexity region
|
21 |
72 |
N/A |
INTRINSIC |
Pfam:PCAF_N
|
81 |
331 |
4.4e-120 |
PFAM |
low complexity region
|
398 |
417 |
N/A |
INTRINSIC |
Pfam:Acetyltransf_7
|
539 |
622 |
1.2e-11 |
PFAM |
Pfam:Acetyltransf_1
|
547 |
621 |
3.1e-11 |
PFAM |
low complexity region
|
660 |
676 |
N/A |
INTRINSIC |
BROMO
|
719 |
827 |
6.87e-38 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126167
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000132930
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000150656
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153526
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] KAT2A, or GCN5, is a histone acetyltransferase (HAT) that functions primarily as a transcriptional activator. It also functions as a repressor of NF-kappa-B (see MIM 164011) by promoting ubiquitination of the NF-kappa-B subunit RELA (MIM 164014) in a HAT-independent manner (Mao et al., 2009 [PubMed 19339690]).[supplied by OMIM, Sep 2009] PHENOTYPE: Homozygotes for targeted null mutations exhibit poorly developed yolk sac blood vessels, retarded growth, absence of dorsal mesoderm lineages, failure to form somites, and lethality between embryonic days 9.5-11.5. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4931414P19Rik |
T |
C |
14: 54,833,035 (GRCm39) |
T47A |
possibly damaging |
Het |
Adgrv1 |
A |
G |
13: 81,637,193 (GRCm39) |
F3416S |
probably damaging |
Het |
Arhgap42 |
T |
C |
9: 9,006,344 (GRCm39) |
D684G |
probably damaging |
Het |
Atp13a1 |
T |
C |
8: 70,249,547 (GRCm39) |
L270P |
probably damaging |
Het |
Baz2b |
T |
C |
2: 59,744,083 (GRCm39) |
N1474S |
probably benign |
Het |
Chmp1b2 |
A |
C |
X: 106,859,766 (GRCm39) |
|
probably benign |
Het |
Chrna6 |
A |
G |
8: 27,896,560 (GRCm39) |
I439T |
probably damaging |
Het |
Cylc2 |
T |
C |
4: 51,228,157 (GRCm39) |
M76T |
probably damaging |
Het |
Ddx19a |
T |
C |
8: 111,703,102 (GRCm39) |
K445R |
probably benign |
Het |
Dennd4a |
A |
T |
9: 64,819,044 (GRCm39) |
Y1733F |
probably damaging |
Het |
Dop1b |
G |
A |
16: 93,596,914 (GRCm39) |
|
probably benign |
Het |
Ephb3 |
T |
A |
16: 21,039,165 (GRCm39) |
|
probably null |
Het |
Gpc2 |
G |
A |
5: 138,272,571 (GRCm39) |
|
probably benign |
Het |
Ift172 |
A |
G |
5: 31,433,240 (GRCm39) |
Y550H |
probably damaging |
Het |
Ldhd |
G |
T |
8: 112,355,270 (GRCm39) |
R238S |
possibly damaging |
Het |
Men1 |
G |
A |
19: 6,387,237 (GRCm39) |
|
probably null |
Het |
Mipep |
T |
G |
14: 61,064,810 (GRCm39) |
L388R |
probably damaging |
Het |
Mucl3 |
G |
T |
17: 35,948,994 (GRCm39) |
H202N |
possibly damaging |
Het |
Naa35 |
A |
G |
13: 59,777,869 (GRCm39) |
D610G |
probably damaging |
Het |
Nae1 |
A |
T |
8: 105,253,013 (GRCm39) |
L137Q |
possibly damaging |
Het |
Nt5dc3 |
T |
C |
10: 86,669,838 (GRCm39) |
|
probably null |
Het |
Nyx |
T |
C |
X: 13,353,264 (GRCm39) |
F373L |
possibly damaging |
Het |
Scaf11 |
A |
T |
15: 96,316,461 (GRCm39) |
D1034E |
possibly damaging |
Het |
Sp2 |
C |
T |
11: 96,845,387 (GRCm39) |
R578H |
probably damaging |
Het |
Taar7a |
A |
T |
10: 23,868,294 (GRCm39) |
|
probably benign |
Het |
Tcf23 |
G |
T |
5: 31,130,869 (GRCm39) |
C169F |
probably benign |
Het |
Trim7 |
A |
T |
11: 48,738,905 (GRCm39) |
N308I |
probably benign |
Het |
Ubxn8 |
T |
C |
8: 34,125,333 (GRCm39) |
E89G |
probably benign |
Het |
|
Other mutations in Kat2a |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00470:Kat2a
|
APN |
11 |
100,596,210 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL00952:Kat2a
|
APN |
11 |
100,596,977 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL01529:Kat2a
|
APN |
11 |
100,602,735 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02424:Kat2a
|
APN |
11 |
100,601,973 (GRCm39) |
splice site |
probably null |
|
IGL03338:Kat2a
|
APN |
11 |
100,602,301 (GRCm39) |
missense |
probably benign |
0.30 |
R0096:Kat2a
|
UTSW |
11 |
100,597,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R0711:Kat2a
|
UTSW |
11 |
100,597,297 (GRCm39) |
missense |
probably damaging |
1.00 |
R0714:Kat2a
|
UTSW |
11 |
100,602,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R0784:Kat2a
|
UTSW |
11 |
100,601,667 (GRCm39) |
missense |
probably benign |
0.05 |
R1652:Kat2a
|
UTSW |
11 |
100,599,437 (GRCm39) |
missense |
probably damaging |
0.98 |
R2152:Kat2a
|
UTSW |
11 |
100,603,172 (GRCm39) |
unclassified |
probably benign |
|
R2177:Kat2a
|
UTSW |
11 |
100,601,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R2510:Kat2a
|
UTSW |
11 |
100,602,968 (GRCm39) |
missense |
probably benign |
0.32 |
R2570:Kat2a
|
UTSW |
11 |
100,601,648 (GRCm39) |
missense |
probably damaging |
1.00 |
R4175:Kat2a
|
UTSW |
11 |
100,596,092 (GRCm39) |
missense |
probably damaging |
1.00 |
R4965:Kat2a
|
UTSW |
11 |
100,603,030 (GRCm39) |
unclassified |
probably benign |
|
R4965:Kat2a
|
UTSW |
11 |
100,603,029 (GRCm39) |
unclassified |
probably benign |
|
R5316:Kat2a
|
UTSW |
11 |
100,602,996 (GRCm39) |
missense |
possibly damaging |
0.77 |
R5732:Kat2a
|
UTSW |
11 |
100,599,066 (GRCm39) |
missense |
probably damaging |
1.00 |
R5954:Kat2a
|
UTSW |
11 |
100,599,724 (GRCm39) |
missense |
possibly damaging |
0.89 |
R6618:Kat2a
|
UTSW |
11 |
100,603,196 (GRCm39) |
unclassified |
probably benign |
|
R6719:Kat2a
|
UTSW |
11 |
100,602,967 (GRCm39) |
missense |
probably benign |
0.00 |
R6731:Kat2a
|
UTSW |
11 |
100,599,099 (GRCm39) |
missense |
probably damaging |
0.98 |
R7291:Kat2a
|
UTSW |
11 |
100,601,726 (GRCm39) |
missense |
possibly damaging |
0.55 |
R7373:Kat2a
|
UTSW |
11 |
100,599,392 (GRCm39) |
missense |
probably benign |
0.00 |
R7632:Kat2a
|
UTSW |
11 |
100,599,422 (GRCm39) |
nonsense |
probably null |
|
R8305:Kat2a
|
UTSW |
11 |
100,600,304 (GRCm39) |
missense |
possibly damaging |
0.77 |
R8322:Kat2a
|
UTSW |
11 |
100,603,116 (GRCm39) |
missense |
unknown |
|
R8729:Kat2a
|
UTSW |
11 |
100,601,337 (GRCm39) |
missense |
probably benign |
0.10 |
R9381:Kat2a
|
UTSW |
11 |
100,602,692 (GRCm39) |
missense |
possibly damaging |
0.50 |
R9432:Kat2a
|
UTSW |
11 |
100,602,178 (GRCm39) |
missense |
probably damaging |
0.99 |
R9472:Kat2a
|
UTSW |
11 |
100,596,197 (GRCm39) |
missense |
probably benign |
0.04 |
|
Posted On |
2015-04-16 |