Incidental Mutation 'R8729:Kat2a'
ID |
662662 |
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 |
068577-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R8729 (G1)
|
Quality Score |
225.009 |
Status
|
Validated
|
Chromosome |
11 |
Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to C
at 100601337 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Arginine
at position 331
(K331R)
|
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: K331R
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000006973 Gene: ENSMUSG00000020918 AA Change: K331R
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: K331R
PolyPhen 2
Score 0.103 (Sensitivity: 0.93; Specificity: 0.86)
|
SMART Domains |
Protein: ENSMUSP00000099407 Gene: ENSMUSG00000020918 AA Change: K331R
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 |
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 |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.5%
- 20x: 97.9%
|
Validation Efficiency |
100% (55/55) |
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 |
Adam4 |
A |
T |
12: 81,468,176 (GRCm39) |
Y148* |
probably null |
Het |
Ank3 |
A |
G |
10: 69,838,428 (GRCm39) |
D1812G |
possibly damaging |
Het |
Ankrd17 |
C |
T |
5: 90,443,452 (GRCm39) |
C405Y |
probably benign |
Het |
Ankrd61 |
A |
G |
5: 143,827,803 (GRCm39) |
Y391H |
probably benign |
Het |
Calcb |
A |
C |
7: 114,319,428 (GRCm39) |
E70A |
probably benign |
Het |
Ccr1 |
T |
C |
9: 123,763,831 (GRCm39) |
K233R |
probably benign |
Het |
Ccz1 |
T |
C |
5: 143,948,310 (GRCm39) |
D115G |
probably damaging |
Het |
Col14a1 |
T |
A |
15: 55,310,893 (GRCm39) |
L1203* |
probably null |
Het |
Csmd2 |
G |
A |
4: 128,356,638 (GRCm39) |
D1648N |
|
Het |
Csn1s1 |
T |
C |
5: 87,824,998 (GRCm39) |
|
probably null |
Het |
Depp1 |
C |
A |
6: 116,628,762 (GRCm39) |
P35H |
probably damaging |
Het |
Eif2ak3 |
C |
A |
6: 70,821,864 (GRCm39) |
P52Q |
probably benign |
Het |
Galnt18 |
T |
C |
7: 111,119,198 (GRCm39) |
E441G |
probably null |
Het |
Gpat2 |
C |
A |
2: 127,275,739 (GRCm39) |
Q506K |
probably damaging |
Het |
Gramd1a |
C |
A |
7: 30,843,248 (GRCm39) |
R20L |
possibly damaging |
Het |
Helz |
G |
T |
11: 107,528,754 (GRCm39) |
|
probably null |
Het |
Hif1a |
A |
G |
12: 73,990,902 (GRCm39) |
N725D |
probably damaging |
Het |
Ighv3-3 |
A |
T |
12: 114,160,252 (GRCm39) |
W53R |
possibly damaging |
Het |
Klk1b4 |
T |
A |
7: 43,856,884 (GRCm39) |
F3I |
probably damaging |
Het |
Krt78 |
T |
G |
15: 101,855,455 (GRCm39) |
Q785H |
probably damaging |
Het |
Lsm11 |
C |
T |
11: 45,835,727 (GRCm39) |
E5K |
possibly damaging |
Het |
Luzp2 |
A |
G |
7: 54,816,985 (GRCm39) |
K145R |
probably damaging |
Het |
Man2b2 |
T |
C |
5: 36,973,462 (GRCm39) |
T506A |
probably benign |
Het |
Msrb3 |
A |
C |
10: 120,687,974 (GRCm39) |
C34G |
probably null |
Het |
Muc16 |
T |
C |
9: 18,571,346 (GRCm39) |
D391G |
unknown |
Het |
Mybpc2 |
C |
T |
7: 44,155,611 (GRCm39) |
V881M |
probably damaging |
Het |
Myh15 |
A |
G |
16: 48,881,851 (GRCm39) |
K31R |
probably damaging |
Het |
Ndnf |
A |
T |
6: 65,680,758 (GRCm39) |
K346* |
probably null |
Het |
Nfs1 |
G |
A |
2: 155,965,727 (GRCm39) |
T118I |
probably benign |
Het |
Niban2 |
T |
A |
2: 32,799,946 (GRCm39) |
L91Q |
probably damaging |
Het |
Nlrp9c |
T |
G |
7: 26,071,428 (GRCm39) |
K893N |
probably benign |
Het |
Nmd3 |
A |
T |
3: 69,655,682 (GRCm39) |
K454N |
possibly damaging |
Het |
Or5ae1 |
T |
C |
7: 84,565,523 (GRCm39) |
C179R |
probably damaging |
Het |
Pcdhb9 |
C |
A |
18: 37,535,639 (GRCm39) |
D544E |
possibly damaging |
Het |
Pck1 |
A |
G |
2: 172,997,866 (GRCm39) |
I312V |
probably damaging |
Het |
Pkd2l2 |
G |
A |
18: 34,566,354 (GRCm39) |
V522I |
probably benign |
Het |
Polr3c |
C |
T |
3: 96,634,796 (GRCm39) |
|
probably benign |
Het |
Prkd2 |
T |
A |
7: 16,583,052 (GRCm39) |
H271Q |
probably damaging |
Het |
Rpp21 |
A |
G |
17: 36,566,927 (GRCm39) |
S59P |
probably benign |
Het |
Rxfp4 |
T |
A |
3: 88,559,305 (GRCm39) |
N382I |
unknown |
Het |
Sirt1 |
A |
G |
10: 63,156,705 (GRCm39) |
F642L |
probably damaging |
Het |
Sp2 |
T |
C |
11: 96,852,099 (GRCm39) |
D275G |
possibly damaging |
Het |
Speer4a3 |
A |
G |
5: 26,158,178 (GRCm39) |
V58A |
probably damaging |
Het |
Srp72 |
C |
T |
5: 77,142,005 (GRCm39) |
T414I |
probably benign |
Het |
Syne1 |
T |
A |
10: 5,179,275 (GRCm39) |
M4400L |
probably benign |
Het |
Tbx15 |
A |
T |
3: 99,220,376 (GRCm39) |
H156L |
possibly damaging |
Het |
Tbxas1 |
G |
T |
6: 38,978,272 (GRCm39) |
M140I |
probably benign |
Het |
Tcof1 |
G |
T |
18: 60,962,145 (GRCm39) |
P695T |
unknown |
Het |
Tmprss9 |
A |
T |
10: 80,726,177 (GRCm39) |
M476L |
probably benign |
Het |
Trat1 |
A |
T |
16: 48,562,591 (GRCm39) |
I73N |
probably damaging |
Het |
Trp53bp2 |
A |
T |
1: 182,276,587 (GRCm39) |
E856V |
probably benign |
Het |
Ttc28 |
T |
A |
5: 111,383,509 (GRCm39) |
|
probably null |
Het |
Ttn |
AC |
A |
2: 76,749,528 (GRCm39) |
|
probably null |
Het |
Twf1 |
T |
C |
15: 94,479,212 (GRCm39) |
N216D |
probably benign |
Het |
Unc80 |
C |
A |
1: 66,647,649 (GRCm39) |
H1530N |
probably benign |
Het |
Vmn1r235 |
A |
T |
17: 21,481,875 (GRCm39) |
M67L |
probably benign |
Het |
Vmn2r111 |
A |
T |
17: 22,767,239 (GRCm39) |
Y753N |
probably damaging |
Het |
Zkscan5 |
T |
A |
5: 145,157,071 (GRCm39) |
N524K |
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 |
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 |
|
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'- AAATCTGCCAGGTAGACACC -3'
(R):5'- CTTACAGGGGAGGCTTGAAC -3'
Sequencing Primer
(F):5'- ATCCCAGAAGGCCCATGGAG -3'
(R):5'- AGATGGCTCTGTTACTGC -3'
|
Posted On |
2021-03-08 |