Incidental Mutation 'IGL00952:Kat2a'
| ID |
28575 |
| 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 # |
IGL00952
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
11 |
| Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100596977 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 681
(V681A)
|
| 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: V681A
PolyPhen 2
Score 0.977 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: V681A
| 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 |
possibly damaging
Transcript: ENSMUST00000103118
AA Change: V682A
PolyPhen 2
Score 0.594 (Sensitivity: 0.87; Specificity: 0.91)
|
| SMART Domains |
Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: V682A
| 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: 50 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1810009J06Rik |
T |
G |
6: 40,941,733 (GRCm39) |
I4S |
probably benign |
Het |
| Abca8b |
A |
G |
11: 109,859,886 (GRCm39) |
|
probably null |
Het |
| Aftph |
A |
T |
11: 20,677,483 (GRCm39) |
V42E |
probably damaging |
Het |
| AI467606 |
A |
G |
7: 126,691,874 (GRCm39) |
S150G |
probably damaging |
Het |
| Art4 |
T |
C |
6: 136,831,818 (GRCm39) |
N108D |
possibly damaging |
Het |
| B9d1 |
G |
A |
11: 61,403,504 (GRCm39) |
V167I |
possibly damaging |
Het |
| Ccdc47 |
A |
T |
11: 106,094,358 (GRCm39) |
|
probably null |
Het |
| Ccdc96 |
T |
A |
5: 36,642,424 (GRCm39) |
|
probably benign |
Het |
| Cfap44 |
A |
G |
16: 44,241,638 (GRCm39) |
I670V |
probably benign |
Het |
| Col18a1 |
T |
G |
10: 76,905,813 (GRCm39) |
K909Q |
possibly damaging |
Het |
| Col8a2 |
A |
G |
4: 126,203,584 (GRCm39) |
Y59C |
probably damaging |
Het |
| Coro6 |
A |
T |
11: 77,359,291 (GRCm39) |
D288V |
probably damaging |
Het |
| Cul4a |
C |
T |
8: 13,196,562 (GRCm39) |
L739F |
probably damaging |
Het |
| Dmxl2 |
C |
T |
9: 54,324,166 (GRCm39) |
V1073I |
probably damaging |
Het |
| Dnah11 |
T |
C |
12: 118,160,386 (GRCm39) |
T115A |
possibly damaging |
Het |
| Fdx2 |
A |
G |
9: 20,984,558 (GRCm39) |
|
probably null |
Het |
| Flnc |
C |
T |
6: 29,459,546 (GRCm39) |
Q2549* |
probably null |
Het |
| Foxn2 |
T |
C |
17: 88,783,308 (GRCm39) |
C188R |
probably benign |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Ilf3 |
T |
C |
9: 21,307,347 (GRCm39) |
L343P |
probably damaging |
Het |
| Itgb2l |
C |
T |
16: 96,227,950 (GRCm39) |
G518S |
probably damaging |
Het |
| Itpr2 |
T |
A |
6: 146,060,459 (GRCm39) |
I2486F |
probably damaging |
Het |
| Kif17 |
A |
G |
4: 137,990,019 (GRCm39) |
N69S |
possibly damaging |
Het |
| Kif26b |
G |
A |
1: 178,759,770 (GRCm39) |
D2106N |
probably damaging |
Het |
| Klf6 |
A |
G |
13: 5,911,680 (GRCm39) |
T15A |
probably benign |
Het |
| Lyst |
A |
G |
13: 13,852,692 (GRCm39) |
T2231A |
probably benign |
Het |
| Mark4 |
T |
C |
7: 19,165,749 (GRCm39) |
T515A |
possibly damaging |
Het |
| Mast3 |
A |
T |
8: 71,233,327 (GRCm39) |
|
probably benign |
Het |
| Nalcn |
T |
C |
14: 123,586,201 (GRCm39) |
K722R |
probably benign |
Het |
| Ncf2 |
G |
A |
1: 152,711,857 (GRCm39) |
E524K |
probably benign |
Het |
| Or56a3b |
A |
G |
7: 104,771,614 (GRCm39) |
|
probably null |
Het |
| Or5p81 |
A |
G |
7: 108,267,445 (GRCm39) |
N274S |
possibly damaging |
Het |
| Or5w12 |
A |
T |
2: 87,502,159 (GRCm39) |
I184N |
probably damaging |
Het |
| Or8c17 |
A |
T |
9: 38,179,801 (GRCm39) |
|
probably benign |
Het |
| Plcg2 |
A |
T |
8: 118,333,956 (GRCm39) |
M910L |
probably benign |
Het |
| Pramel14 |
T |
C |
4: 143,719,894 (GRCm39) |
H157R |
probably benign |
Het |
| Rai1 |
A |
T |
11: 60,078,818 (GRCm39) |
K961* |
probably null |
Het |
| Rsph14 |
T |
C |
10: 74,865,601 (GRCm39) |
D112G |
probably benign |
Het |
| Sgo1 |
T |
A |
17: 53,994,275 (GRCm39) |
D59V |
probably damaging |
Het |
| Slc22a29 |
A |
T |
19: 8,195,221 (GRCm39) |
V138E |
probably damaging |
Het |
| Slc9a1 |
T |
A |
4: 133,143,693 (GRCm39) |
V393D |
probably damaging |
Het |
| Smg6 |
A |
G |
11: 74,819,974 (GRCm39) |
R82G |
probably benign |
Het |
| Sppl3 |
T |
C |
5: 115,212,935 (GRCm39) |
S55P |
probably benign |
Het |
| Srsf12 |
A |
C |
4: 33,226,103 (GRCm39) |
Q122P |
possibly damaging |
Het |
| Tas1r2 |
T |
C |
4: 139,382,563 (GRCm39) |
M67T |
probably benign |
Het |
| Thnsl1 |
G |
A |
2: 21,216,767 (GRCm39) |
V174I |
possibly damaging |
Het |
| Thumpd1 |
A |
G |
7: 119,316,232 (GRCm39) |
V239A |
possibly damaging |
Het |
| Tnxb |
T |
G |
17: 34,932,102 (GRCm39) |
Y2212D |
probably damaging |
Het |
| Trim40 |
T |
C |
17: 37,193,289 (GRCm39) |
*213W |
probably null |
Het |
| Ttc16 |
T |
C |
2: 32,660,259 (GRCm39) |
D183G |
probably damaging |
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 |
|
IGL00476:Kat2a
|
APN |
11 |
100,596,210 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
2013-04-17 |
Incidental Mutation