Incidental Mutation 'IGL03338:Kat2a'
ID |
417112 |
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 # |
IGL03338
|
Quality Score |
|
Status
|
|
Chromosome |
11 |
Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100602301 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 151
(D151G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000006973
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000006973]
[ENSMUST00000017976]
[ENSMUST00000019317]
[ENSMUST00000103118]
[ENSMUST00000107364]
[ENSMUST00000169833]
|
AlphaFold |
Q9JHD2 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000006973
AA Change: D151G
PolyPhen 2
Score 0.297 (Sensitivity: 0.91; Specificity: 0.89)
|
SMART Domains |
Protein: ENSMUSP00000006973 Gene: ENSMUSG00000020918 AA Change: D151G
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: ENSMUST00000017976
|
SMART Domains |
Protein: ENSMUSP00000017976 Gene: ENSMUSG00000017832
Domain | Start | End | E-Value | Type |
Pfam:HSP20
|
52 |
149 |
4.7e-15 |
PFAM |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000019317
|
SMART Domains |
Protein: ENSMUSP00000019317 Gene: ENSMUSG00000019173
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
RAB
|
22 |
203 |
6.29e-85 |
SMART |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000103118
AA Change: D151G
PolyPhen 2
Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
|
SMART Domains |
Protein: ENSMUSP00000099407 Gene: ENSMUSG00000020918 AA Change: D151G
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 |
probably benign
Transcript: ENSMUST00000107364
|
SMART Domains |
Protein: ENSMUSP00000102987 Gene: ENSMUSG00000019173
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
17 |
N/A |
INTRINSIC |
RAB
|
22 |
185 |
3.37e-94 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000126299
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153526
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000169833
|
SMART Domains |
Protein: ENSMUSP00000130551 Gene: ENSMUSG00000017832
Domain | Start | End | E-Value | Type |
Pfam:HSP20
|
83 |
178 |
1.2e-13 |
PFAM |
|
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: 49 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abcb1a |
G |
A |
5: 8,744,153 (GRCm39) |
V260M |
probably damaging |
Het |
Accsl |
T |
A |
2: 93,686,092 (GRCm39) |
H575L |
probably benign |
Het |
Armc3 |
A |
T |
2: 19,253,512 (GRCm39) |
I218F |
possibly damaging |
Het |
Bora |
C |
A |
14: 99,310,178 (GRCm39) |
N502K |
probably damaging |
Het |
Brd4 |
T |
A |
17: 32,432,046 (GRCm39) |
D606V |
probably damaging |
Het |
Ccdc190 |
T |
A |
1: 169,757,544 (GRCm39) |
M1K |
probably null |
Het |
Ccl25 |
T |
C |
8: 4,399,898 (GRCm39) |
|
probably benign |
Het |
Cep78 |
G |
T |
19: 15,936,987 (GRCm39) |
T573K |
probably damaging |
Het |
Ces1d |
C |
A |
8: 93,896,346 (GRCm39) |
|
probably null |
Het |
Cntn4 |
C |
T |
6: 106,632,550 (GRCm39) |
H525Y |
probably damaging |
Het |
D630039A03Rik |
T |
C |
4: 57,910,509 (GRCm39) |
E101G |
probably benign |
Het |
Dnah2 |
A |
G |
11: 69,387,403 (GRCm39) |
V941A |
probably benign |
Het |
Exoc6b |
A |
G |
6: 84,821,112 (GRCm39) |
I559T |
probably damaging |
Het |
Fmr1 |
T |
C |
X: 67,731,942 (GRCm39) |
|
probably null |
Het |
Ghr |
A |
T |
15: 3,377,024 (GRCm39) |
C66S |
probably damaging |
Het |
Hook1 |
C |
A |
4: 95,886,929 (GRCm39) |
|
probably benign |
Het |
Igsf1 |
T |
C |
X: 48,876,376 (GRCm39) |
T73A |
probably benign |
Het |
Ipo8 |
T |
C |
6: 148,701,755 (GRCm39) |
K451R |
probably benign |
Het |
Irs1 |
A |
G |
1: 82,266,122 (GRCm39) |
V698A |
probably benign |
Het |
Lyrm1 |
A |
T |
7: 119,513,469 (GRCm39) |
Q78L |
probably benign |
Het |
Madd |
C |
T |
2: 90,992,507 (GRCm39) |
G1012E |
possibly damaging |
Het |
Mboat1 |
T |
A |
13: 30,320,742 (GRCm39) |
D31E |
probably benign |
Het |
Myh8 |
C |
A |
11: 67,189,172 (GRCm39) |
A1116D |
probably damaging |
Het |
Nop2 |
G |
A |
6: 125,116,695 (GRCm39) |
|
probably null |
Het |
Notch1 |
A |
G |
2: 26,349,971 (GRCm39) |
S2390P |
probably benign |
Het |
Or10ag57 |
T |
G |
2: 87,218,470 (GRCm39) |
N140K |
probably benign |
Het |
Or52z14 |
T |
A |
7: 103,253,615 (GRCm39) |
C251* |
probably null |
Het |
Or6c66b |
A |
G |
10: 129,376,925 (GRCm39) |
D173G |
probably damaging |
Het |
Pigg |
T |
C |
5: 108,467,816 (GRCm39) |
S272P |
probably damaging |
Het |
Plg |
A |
G |
17: 12,637,959 (GRCm39) |
Y795C |
probably damaging |
Het |
Polr3e |
A |
G |
7: 120,536,843 (GRCm39) |
K335R |
probably benign |
Het |
Pramel13 |
T |
A |
4: 144,121,397 (GRCm39) |
Y209F |
probably benign |
Het |
Pramel24 |
T |
C |
4: 143,453,312 (GRCm39) |
I140T |
probably benign |
Het |
Pramel28 |
T |
C |
4: 143,692,411 (GRCm39) |
I197V |
probably benign |
Het |
Pramel28 |
T |
A |
4: 143,692,608 (GRCm39) |
Q131L |
probably benign |
Het |
Prdm4 |
A |
T |
10: 85,743,685 (GRCm39) |
M190K |
possibly damaging |
Het |
Prex2 |
T |
A |
1: 11,210,489 (GRCm39) |
F597L |
probably benign |
Het |
Ranbp3l |
A |
G |
15: 9,060,940 (GRCm39) |
E403G |
probably damaging |
Het |
Rgmb |
C |
T |
17: 16,027,565 (GRCm39) |
A385T |
possibly damaging |
Het |
Scn4a |
T |
A |
11: 106,211,671 (GRCm39) |
I1449F |
probably damaging |
Het |
Slc17a9 |
T |
C |
2: 180,382,311 (GRCm39) |
|
probably benign |
Het |
Slc26a2 |
T |
C |
18: 61,331,974 (GRCm39) |
I486V |
probably damaging |
Het |
Sntn |
A |
T |
14: 13,678,991 (GRCm38) |
D55V |
probably damaging |
Het |
Snx25 |
T |
A |
8: 46,498,247 (GRCm39) |
R595S |
probably benign |
Het |
Spag11b |
C |
T |
8: 19,191,426 (GRCm39) |
T33I |
probably damaging |
Het |
Sval2 |
A |
G |
6: 41,841,181 (GRCm39) |
I81M |
probably damaging |
Het |
Tab2 |
A |
G |
10: 7,795,039 (GRCm39) |
V481A |
probably damaging |
Het |
Zfp867 |
G |
A |
11: 59,355,003 (GRCm39) |
Q109* |
probably null |
Het |
Zfp935 |
T |
C |
13: 62,602,247 (GRCm39) |
T318A |
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 |
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 |
|
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 |
2016-08-02 |