Incidental Mutation 'R5732:Kat2a'
| ID |
451503 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat2a
|
| Ensembl Gene |
ENSMUSG00000020918 |
| Gene Name |
K(lysine) acetyltransferase 2A |
| Synonyms |
Gcn5l2, PCAF-B/GCN5, 1110051E14Rik, Gcn5 |
| MMRRC Submission |
043347-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5732 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 100599066 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Phenylalanine to Serine
at position 571
(F571S)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000099407
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006973]
[ENSMUST00000017974]
[ENSMUST00000103118]
|
| AlphaFold |
Q9JHD2 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000006973
AA Change: F570S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: F570S
| 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: F571S
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
| SMART Domains |
Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: F571S
| 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 |
- 1x: 99.0%
- 3x: 98.3%
- 10x: 96.8%
- 20x: 94.5%
|
| 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: 46 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acaa1b |
T |
A |
9: 118,977,462 (GRCm39) |
M407L |
possibly damaging |
Het |
| Acsf2 |
T |
C |
11: 94,460,768 (GRCm39) |
|
probably benign |
Het |
| Apob |
A |
G |
12: 8,060,353 (GRCm39) |
D2945G |
probably benign |
Het |
| Atg2a |
T |
C |
19: 6,307,490 (GRCm39) |
Y1475H |
probably damaging |
Het |
| Capn5 |
A |
G |
7: 97,778,593 (GRCm39) |
L342P |
possibly damaging |
Het |
| Ccdc152 |
A |
G |
15: 3,321,860 (GRCm39) |
|
probably null |
Het |
| Ccdc7b |
A |
G |
8: 129,799,195 (GRCm39) |
M91V |
possibly damaging |
Het |
| Cd3g |
T |
C |
9: 44,884,929 (GRCm39) |
E105G |
possibly damaging |
Het |
| Cdadc1 |
A |
G |
14: 59,834,360 (GRCm39) |
L44P |
probably damaging |
Het |
| Cdh23 |
A |
G |
10: 60,167,096 (GRCm39) |
V1852A |
possibly damaging |
Het |
| Cdx2 |
T |
C |
5: 147,238,833 (GRCm39) |
Q252R |
possibly damaging |
Het |
| Cps1 |
A |
T |
1: 67,196,923 (GRCm39) |
I325F |
probably benign |
Het |
| Dctn1 |
G |
A |
6: 83,174,931 (GRCm39) |
|
probably null |
Het |
| Dcun1d3 |
T |
C |
7: 119,457,256 (GRCm39) |
K152R |
probably benign |
Het |
| Dhx35 |
G |
A |
2: 158,673,705 (GRCm39) |
V379M |
probably damaging |
Het |
| Fam171a2 |
T |
C |
11: 102,330,807 (GRCm39) |
E224G |
possibly damaging |
Het |
| Flt1 |
G |
T |
5: 147,571,293 (GRCm39) |
Y671* |
probably null |
Het |
| Fndc3b |
T |
C |
3: 27,515,922 (GRCm39) |
Y628C |
probably damaging |
Het |
| Foxj3 |
A |
T |
4: 119,443,008 (GRCm39) |
D144V |
probably damaging |
Het |
| Gp2 |
A |
G |
7: 119,048,331 (GRCm39) |
V429A |
probably damaging |
Het |
| Hydin |
T |
A |
8: 111,178,690 (GRCm39) |
I1095N |
probably benign |
Het |
| Kcnq1 |
C |
A |
7: 142,702,493 (GRCm39) |
|
probably benign |
Het |
| Letm2 |
A |
C |
8: 26,077,341 (GRCm39) |
S250A |
possibly damaging |
Het |
| Llgl1 |
T |
C |
11: 60,600,286 (GRCm39) |
V545A |
probably benign |
Het |
| Lrfn3 |
T |
C |
7: 30,059,031 (GRCm39) |
D398G |
probably benign |
Het |
| Lrig1 |
G |
T |
6: 94,676,520 (GRCm39) |
C49* |
probably null |
Het |
| Mug1 |
A |
G |
6: 121,855,452 (GRCm39) |
I929V |
probably benign |
Het |
| Naaa |
G |
A |
5: 92,411,314 (GRCm39) |
T291I |
probably damaging |
Het |
| Ndufaf1 |
G |
A |
2: 119,490,521 (GRCm39) |
Q180* |
probably null |
Het |
| Nr3c1 |
A |
T |
18: 39,548,752 (GRCm39) |
H741Q |
probably damaging |
Het |
| Nsun5 |
T |
C |
5: 135,400,204 (GRCm39) |
L109P |
probably damaging |
Het |
| Pacsin3 |
A |
G |
2: 91,090,605 (GRCm39) |
E18G |
probably damaging |
Het |
| Rpgr |
G |
A |
X: 10,032,511 (GRCm39) |
P857L |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,916,188 (GRCm39) |
T1254M |
probably benign |
Het |
| Slc35a4 |
A |
T |
18: 36,815,394 (GRCm39) |
T75S |
probably benign |
Het |
| Slc52a2 |
T |
C |
15: 76,425,274 (GRCm39) |
I434T |
probably benign |
Het |
| Slco2a1 |
C |
T |
9: 102,927,455 (GRCm39) |
T116I |
probably damaging |
Het |
| Snrpd2 |
T |
C |
7: 18,886,538 (GRCm39) |
|
probably null |
Het |
| Tbc1d32 |
T |
A |
10: 55,964,489 (GRCm39) |
L903F |
probably damaging |
Het |
| Tex10 |
G |
T |
4: 48,460,046 (GRCm39) |
T435K |
probably damaging |
Het |
| Tmem266 |
T |
C |
9: 55,288,120 (GRCm39) |
S66P |
probably damaging |
Het |
| Top2b |
A |
T |
14: 16,400,106 (GRCm38) |
E581D |
possibly damaging |
Het |
| Uggt1 |
A |
T |
1: 36,200,852 (GRCm39) |
|
probably null |
Het |
| Wdr47 |
T |
A |
3: 108,540,472 (GRCm39) |
Y622* |
probably null |
Het |
| Zfp644 |
A |
T |
5: 106,784,989 (GRCm39) |
H519Q |
probably damaging |
Het |
| Zfp687 |
T |
C |
3: 94,918,528 (GRCm39) |
M415V |
possibly 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 |
|
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 |
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- AGATAAAGCTGCCACCCTG -3'
(R):5'- AACAGGGCTCCACCTTTCAG -3'
Sequencing Primer
(F):5'- CCTGTGGGAGTATGTGGAAATGTC -3'
(R):5'- GGGCTCCACCTTTCAGGGTTC -3'
|
| Posted On |
2017-01-03 |
Incidental Mutation