Incidental Mutation 'R6731:Kat2a'
| ID |
530073 |
| 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 |
044849-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R6731 (G1)
|
| Quality Score |
202.009 |
|
Status
|
Validated
|
| Chromosome |
11 |
| Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 100599099 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Methionine to Lysine
at position 559
(M559K)
|
| 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: M559K
PolyPhen 2
Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000006973
Gene: ENSMUSG00000020918
AA Change: M559K
| 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 benign
Transcript: ENSMUST00000103118
AA Change: M560K
PolyPhen 2
Score 0.231 (Sensitivity: 0.91; Specificity: 0.88)
|
| SMART Domains |
Protein: ENSMUSP00000099407
Gene: ENSMUSG00000020918
AA Change: M560K
| 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
|
| Meta Mutation Damage Score |
0.7008 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.6%
- 10x: 98.2%
- 20x: 95.3%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acta1 |
G |
A |
8: 124,619,956 (GRCm39) |
T128I |
probably damaging |
Het |
| Ahnak |
T |
A |
19: 8,988,926 (GRCm39) |
D3403E |
possibly damaging |
Het |
| Aldoc |
T |
A |
11: 78,216,918 (GRCm39) |
D319E |
probably benign |
Het |
| Ank3 |
T |
A |
10: 69,849,858 (GRCm39) |
D1108E |
possibly damaging |
Het |
| Ankrd7 |
G |
A |
6: 18,866,653 (GRCm39) |
G58S |
probably damaging |
Het |
| Ass1 |
A |
T |
2: 31,404,796 (GRCm39) |
Y359F |
probably damaging |
Het |
| B3gnt2 |
G |
T |
11: 22,786,888 (GRCm39) |
S100* |
probably null |
Het |
| Cd46 |
T |
C |
1: 194,765,775 (GRCm39) |
|
probably null |
Het |
| Chst5 |
G |
T |
8: 112,616,676 (GRCm39) |
R315S |
probably benign |
Het |
| Cps1 |
T |
C |
1: 67,200,030 (GRCm39) |
S393P |
probably damaging |
Het |
| Dis3l |
T |
C |
9: 64,217,720 (GRCm39) |
|
probably null |
Het |
| Fgg |
T |
C |
3: 82,920,208 (GRCm39) |
F329S |
probably damaging |
Het |
| Hsp90b1 |
T |
C |
10: 86,537,769 (GRCm39) |
T179A |
probably benign |
Het |
| Klhl41 |
T |
C |
2: 69,505,044 (GRCm39) |
I449T |
probably damaging |
Het |
| Lama5 |
A |
T |
2: 179,830,367 (GRCm39) |
I1880N |
probably benign |
Het |
| Lcp1 |
A |
G |
14: 75,443,629 (GRCm39) |
D215G |
probably damaging |
Het |
| Lrch3 |
A |
G |
16: 32,770,790 (GRCm39) |
T131A |
probably damaging |
Het |
| Mroh6 |
T |
C |
15: 75,760,341 (GRCm39) |
T78A |
probably benign |
Het |
| Naa15 |
T |
G |
3: 51,363,294 (GRCm39) |
V326G |
probably damaging |
Het |
| Nalcn |
T |
A |
14: 123,837,346 (GRCm39) |
Q6L |
probably benign |
Het |
| Nipbl |
T |
A |
15: 8,352,074 (GRCm39) |
I1863L |
probably damaging |
Het |
| Obi1 |
C |
T |
14: 104,716,910 (GRCm39) |
V488I |
probably benign |
Het |
| Os9 |
C |
T |
10: 126,934,412 (GRCm39) |
G408D |
probably benign |
Het |
| Pcbp2 |
T |
C |
15: 102,397,225 (GRCm39) |
S237P |
probably damaging |
Het |
| Pcdhb10 |
G |
A |
18: 37,546,529 (GRCm39) |
R535H |
probably benign |
Het |
| Pex5l |
A |
T |
3: 33,012,947 (GRCm39) |
I320K |
probably damaging |
Het |
| Pgm2 |
T |
C |
5: 64,258,318 (GRCm39) |
F101S |
probably benign |
Het |
| Phf8-ps |
A |
G |
17: 33,285,200 (GRCm39) |
V534A |
probably benign |
Het |
| Poc1b |
T |
A |
10: 98,988,733 (GRCm39) |
D207E |
probably null |
Het |
| Pou6f1 |
T |
C |
15: 100,477,764 (GRCm39) |
I460V |
possibly damaging |
Het |
| Rnf17 |
A |
T |
14: 56,761,807 (GRCm39) |
Q1623H |
possibly damaging |
Het |
| Rpap1 |
T |
C |
2: 119,608,777 (GRCm39) |
N195S |
probably benign |
Het |
| Sacs |
C |
A |
14: 61,418,149 (GRCm39) |
|
probably null |
Het |
| Scube2 |
G |
A |
7: 109,409,944 (GRCm39) |
T643M |
probably damaging |
Het |
| Sele |
C |
T |
1: 163,881,242 (GRCm39) |
L481F |
probably damaging |
Het |
| Stk32a |
A |
G |
18: 43,438,143 (GRCm39) |
Y214C |
probably damaging |
Het |
| Tex44 |
T |
A |
1: 86,354,207 (GRCm39) |
S39T |
probably benign |
Het |
| Tmem135 |
A |
T |
7: 88,893,172 (GRCm39) |
M140K |
possibly damaging |
Het |
| Tox2 |
A |
G |
2: 163,162,297 (GRCm39) |
Y354C |
probably damaging |
Het |
| Trim21 |
A |
T |
7: 102,208,419 (GRCm39) |
F433L |
probably damaging |
Het |
| Trim24 |
T |
C |
6: 37,920,420 (GRCm39) |
F406L |
probably damaging |
Het |
| Ubr1 |
G |
C |
2: 120,786,121 (GRCm39) |
H166Q |
probably null |
Het |
| Wnt16 |
T |
A |
6: 22,297,891 (GRCm39) |
Y252* |
probably null |
Het |
| Yod1 |
G |
A |
1: 130,645,275 (GRCm39) |
G19S |
probably damaging |
Het |
| Zfp141 |
T |
C |
7: 42,138,924 (GRCm39) |
D36G |
probably damaging |
Het |
| Zfp729a |
C |
T |
13: 67,768,265 (GRCm39) |
V655I |
probably benign |
Het |
| Zfp974 |
A |
T |
7: 27,611,074 (GRCm39) |
V217E |
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 |
|
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 |
|
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'- TGTGGAAATGTCTGGTCGCTAC -3'
(R):5'- GACGCTCTCTTAATAACAGGGC -3'
Sequencing Primer
(F):5'- TGTCTGGTCGCTACAAGAAG -3'
(R):5'- TTAATAACAGGGCTCCACCTTTCAGG -3'
|
| Posted On |
2018-08-01 |
Incidental Mutation