Incidental Mutation 'R0784:Kat2a'
ID |
76786 |
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 |
038964-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R0784 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
C to T
at 100601667 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Methionine to Isoleucine
at position 249
(M249I)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000099407
(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: M249I
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000006973 Gene: ENSMUSG00000020918 AA Change: M249I
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: M249I
PolyPhen 2
Score 0.046 (Sensitivity: 0.94; Specificity: 0.83)
|
SMART Domains |
Protein: ENSMUSP00000099407 Gene: ENSMUSG00000020918 AA Change: M249I
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 |
|
Meta Mutation Damage Score |
0.1209 |
Coding Region Coverage |
- 1x: 99.6%
- 3x: 98.9%
- 10x: 96.9%
- 20x: 92.1%
|
Validation Efficiency |
97% (59/61) |
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: 58 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Acin1 |
T |
C |
14: 54,890,985 (GRCm39) |
|
probably benign |
Het |
Adamts2 |
C |
T |
11: 50,558,830 (GRCm39) |
R182W |
probably damaging |
Het |
Ahr |
C |
T |
12: 35,558,141 (GRCm39) |
G293D |
possibly damaging |
Het |
Akna |
G |
T |
4: 63,295,125 (GRCm39) |
T1028K |
probably benign |
Het |
Akp3 |
G |
A |
1: 87,055,593 (GRCm39) |
G547R |
unknown |
Het |
Aoc1l3 |
T |
A |
6: 48,964,235 (GRCm39) |
M81K |
possibly damaging |
Het |
Asic2 |
T |
A |
11: 80,784,815 (GRCm39) |
M324L |
possibly damaging |
Het |
Atf6 |
A |
G |
1: 170,537,516 (GRCm39) |
F635L |
probably benign |
Het |
Atp8b2 |
A |
T |
3: 89,864,380 (GRCm39) |
V195E |
probably damaging |
Het |
Bicd1 |
T |
A |
6: 149,414,861 (GRCm39) |
C525S |
probably damaging |
Het |
Cbfa2t3 |
A |
G |
8: 123,377,226 (GRCm39) |
|
probably benign |
Het |
Cd46 |
G |
A |
1: 194,774,502 (GRCm39) |
T11M |
possibly damaging |
Het |
Cecr2 |
A |
G |
6: 120,735,110 (GRCm39) |
H754R |
possibly damaging |
Het |
Clcn3 |
G |
T |
8: 61,382,237 (GRCm39) |
D450E |
probably benign |
Het |
Cobl |
T |
G |
11: 12,216,843 (GRCm39) |
|
probably benign |
Het |
Cyba |
T |
A |
8: 123,154,422 (GRCm39) |
T34S |
probably benign |
Het |
Dennd1a |
A |
G |
2: 37,911,426 (GRCm39) |
L187P |
probably damaging |
Het |
Dennd4c |
A |
T |
4: 86,763,145 (GRCm39) |
Q1817L |
probably benign |
Het |
Drosha |
T |
C |
15: 12,867,764 (GRCm39) |
|
probably benign |
Het |
Dync1li2 |
A |
G |
8: 105,169,130 (GRCm39) |
S34P |
probably damaging |
Het |
Emilin2 |
T |
A |
17: 71,582,282 (GRCm39) |
D148V |
possibly damaging |
Het |
Galnt11 |
A |
G |
5: 25,463,907 (GRCm39) |
D393G |
probably damaging |
Het |
Gm5435 |
T |
A |
12: 82,542,954 (GRCm39) |
|
noncoding transcript |
Het |
Gpr176 |
C |
T |
2: 118,203,533 (GRCm39) |
V46M |
possibly damaging |
Het |
Gpr85 |
T |
A |
6: 13,836,748 (GRCm39) |
H52L |
probably benign |
Het |
Grn |
T |
C |
11: 102,325,328 (GRCm39) |
M246T |
possibly damaging |
Het |
Hnrnpul2 |
T |
C |
19: 8,802,416 (GRCm39) |
F428L |
possibly damaging |
Het |
Hoxa13 |
G |
C |
6: 52,236,917 (GRCm39) |
N278K |
probably damaging |
Het |
Irx5 |
A |
G |
8: 93,087,118 (GRCm39) |
D350G |
probably benign |
Het |
Klhl29 |
T |
C |
12: 5,131,251 (GRCm39) |
Y782C |
probably damaging |
Het |
Kmt2c |
A |
T |
5: 25,515,893 (GRCm39) |
F2650Y |
probably benign |
Het |
Lrp2 |
A |
G |
2: 69,348,709 (GRCm39) |
I754T |
probably benign |
Het |
LTO1 |
A |
T |
7: 144,473,014 (GRCm39) |
Y108F |
probably benign |
Het |
Mpl |
G |
A |
4: 118,303,603 (GRCm39) |
P472S |
possibly damaging |
Het |
Mtnr1b |
A |
G |
9: 15,774,081 (GRCm39) |
I326T |
probably benign |
Het |
Myh9 |
A |
G |
15: 77,661,209 (GRCm39) |
|
probably benign |
Het |
Mylk |
G |
C |
16: 34,699,845 (GRCm39) |
E403Q |
possibly damaging |
Het |
Myo9a |
A |
G |
9: 59,803,828 (GRCm39) |
|
probably benign |
Het |
Or2z2 |
T |
A |
11: 58,346,131 (GRCm39) |
I215F |
possibly damaging |
Het |
Or4ac1-ps1 |
T |
A |
2: 88,370,511 (GRCm39) |
|
noncoding transcript |
Het |
Pcsk5 |
T |
C |
19: 17,692,133 (GRCm39) |
M184V |
probably benign |
Het |
Piezo2 |
T |
A |
18: 63,216,306 (GRCm39) |
D1143V |
probably damaging |
Het |
Prr36 |
G |
T |
8: 4,263,771 (GRCm39) |
|
probably benign |
Het |
Rnf220 |
C |
A |
4: 117,135,195 (GRCm39) |
|
probably benign |
Het |
Senp3 |
A |
G |
11: 69,571,274 (GRCm39) |
L131P |
probably damaging |
Het |
Shc4 |
A |
C |
2: 125,499,416 (GRCm39) |
W354G |
probably benign |
Het |
Slc6a15 |
A |
G |
10: 103,252,661 (GRCm39) |
|
probably benign |
Het |
Smtnl2 |
T |
C |
11: 72,290,763 (GRCm39) |
D394G |
probably damaging |
Het |
Sry |
G |
T |
Y: 2,662,731 (GRCm39) |
Q310K |
unknown |
Het |
St7l |
A |
G |
3: 104,778,240 (GRCm39) |
M126V |
probably benign |
Het |
St8sia3 |
T |
C |
18: 64,404,772 (GRCm39) |
W350R |
probably damaging |
Het |
Stk35 |
A |
T |
2: 129,652,722 (GRCm39) |
K408* |
probably null |
Het |
Thsd7b |
T |
C |
1: 129,523,096 (GRCm39) |
|
probably benign |
Het |
Tmem106b |
T |
C |
6: 13,084,252 (GRCm39) |
V252A |
probably damaging |
Het |
Trpm7 |
A |
G |
2: 126,687,992 (GRCm39) |
|
probably null |
Het |
Ttf2 |
T |
C |
3: 100,870,026 (GRCm39) |
D349G |
probably benign |
Het |
Zfp386 |
T |
A |
12: 116,023,540 (GRCm39) |
C419* |
probably null |
Het |
Zfp541 |
A |
G |
7: 15,816,917 (GRCm39) |
|
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 |
|
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 |
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 |
|
Predicted Primers |
PCR Primer
(F):5'- TAGAAGGCTTCGGCCAAACACG -3'
(R):5'- TGGAAGGGTCAGAGGTTCTCTTCAC -3'
Sequencing Primer
(F):5'- TGGCAGTAACAGAGCCATC -3'
(R):5'- AGAGGTTCTCTTCACAGAATCC -3'
|
Posted On |
2013-10-16 |