Incidental Mutation 'R6719:Kat2a'
ID |
529502 |
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 |
044837-MU
|
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
R6719 (G1)
|
Quality Score |
225.009 |
Status
|
Not validated
|
Chromosome |
11 |
Chromosomal Location |
100595572-100603291 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to G
at 100602967 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Glutamine to Histidine
at position 88
(Q88H)
|
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: Q88H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000006973 Gene: ENSMUSG00000020918 AA Change: Q88H
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: Q88H
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
SMART Domains |
Protein: ENSMUSP00000099407 Gene: ENSMUSG00000020918 AA Change: Q88H
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 |
probably benign
Transcript: ENSMUST00000169833
|
SMART Domains |
Protein: ENSMUSP00000130551 Gene: ENSMUSG00000017832
Domain | Start | End | E-Value | Type |
Pfam:HSP20
|
83 |
178 |
1.2e-13 |
PFAM |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000153526
|
Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.7%
|
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: 38 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
4933411K16Rik |
T |
C |
19: 42,041,151 (GRCm39) |
I94T |
possibly damaging |
Het |
Afp |
T |
A |
5: 90,651,562 (GRCm39) |
N392K |
probably benign |
Het |
Asrgl1 |
C |
T |
19: 9,090,512 (GRCm39) |
G278D |
probably damaging |
Het |
Atp2c1 |
T |
C |
9: 105,301,377 (GRCm39) |
I611V |
probably damaging |
Het |
Avl9 |
A |
G |
6: 56,730,370 (GRCm39) |
Y571C |
probably damaging |
Het |
Clrn1 |
A |
T |
3: 58,753,861 (GRCm39) |
C167S |
probably damaging |
Het |
Ctsr |
C |
T |
13: 61,308,265 (GRCm39) |
G293D |
possibly damaging |
Het |
Dmbt1 |
T |
A |
7: 130,721,332 (GRCm39) |
S1867T |
possibly damaging |
Het |
Dock9 |
A |
T |
14: 121,847,439 (GRCm39) |
I1025N |
probably damaging |
Het |
Dppa4 |
G |
A |
16: 48,108,247 (GRCm39) |
A11T |
probably damaging |
Het |
Duox2 |
T |
A |
2: 122,114,867 (GRCm39) |
|
probably null |
Het |
Fat3 |
A |
G |
9: 15,907,440 (GRCm39) |
L2854P |
probably benign |
Het |
Fcer1a |
A |
G |
1: 173,050,340 (GRCm39) |
S61P |
possibly damaging |
Het |
Fyb2 |
A |
T |
4: 104,867,656 (GRCm39) |
D669V |
probably benign |
Het |
Herc2 |
G |
T |
7: 55,862,574 (GRCm39) |
C4081F |
probably damaging |
Het |
Hexim1 |
T |
C |
11: 103,008,091 (GRCm39) |
L115P |
probably benign |
Het |
Lrriq1 |
T |
C |
10: 102,906,977 (GRCm39) |
Y1581C |
probably damaging |
Het |
Ltbp4 |
T |
G |
7: 27,028,188 (GRCm39) |
D323A |
probably damaging |
Het |
Mark3 |
T |
A |
12: 111,581,876 (GRCm39) |
I115K |
probably damaging |
Het |
Nudt9 |
A |
G |
5: 104,209,562 (GRCm39) |
D271G |
probably damaging |
Het |
Or2a54 |
T |
A |
6: 43,092,907 (GRCm39) |
V77D |
probably damaging |
Het |
Parvb |
C |
T |
15: 84,182,180 (GRCm39) |
R237W |
probably damaging |
Het |
Pcdha5 |
T |
C |
18: 37,093,925 (GRCm39) |
S145P |
probably damaging |
Het |
Pzp |
T |
C |
6: 128,501,046 (GRCm39) |
E104G |
probably benign |
Het |
Rho |
T |
C |
6: 115,910,854 (GRCm39) |
I133T |
possibly damaging |
Het |
Sall3 |
G |
T |
18: 81,014,721 (GRCm39) |
T997K |
probably damaging |
Het |
Scn8a |
A |
T |
15: 100,908,896 (GRCm39) |
|
probably null |
Het |
Sfxn1 |
T |
A |
13: 54,260,583 (GRCm39) |
H310Q |
probably benign |
Het |
Slc25a18 |
A |
G |
6: 120,765,215 (GRCm39) |
D92G |
probably damaging |
Het |
Slc26a9 |
T |
C |
1: 131,689,523 (GRCm39) |
I490T |
probably benign |
Het |
Terf1 |
T |
C |
1: 15,908,460 (GRCm39) |
V351A |
probably benign |
Het |
Thsd7b |
A |
G |
1: 130,087,451 (GRCm39) |
|
probably null |
Het |
Trgj2 |
A |
G |
13: 19,495,426 (GRCm39) |
|
probably benign |
Het |
Tti1 |
A |
T |
2: 157,824,220 (GRCm39) |
C1078S |
probably benign |
Het |
Ttll3 |
A |
G |
6: 113,375,993 (GRCm39) |
|
probably benign |
Het |
Tubb1 |
A |
C |
2: 174,299,187 (GRCm39) |
T290P |
probably damaging |
Het |
Ugt2b35 |
G |
T |
5: 87,155,247 (GRCm39) |
D361Y |
probably damaging |
Het |
Zc2hc1c |
T |
C |
12: 85,337,446 (GRCm39) |
S368P |
probably 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 |
|
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'- CAGTTCCCTGATGCTGTCTG -3'
(R):5'- GGCAAAGGAAGACTACGACTCC -3'
Sequencing Primer
(F):5'- TGTCTGCATCCCAAGCG -3'
(R):5'- ATGGCGGAACCTTCCCAG -3'
|
Posted On |
2018-08-01 |