Incidental Mutation 'IGL00835:Kat8'
ID |
12748 |
Institutional Source |
Australian Phenomics Network
(link to record)
|
Gene Symbol |
Kat8
|
Ensembl Gene |
ENSMUSG00000030801 |
Gene Name |
K(lysine) acetyltransferase 8 |
Synonyms |
2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF |
Accession Numbers |
|
Essential gene? |
Essential
(E-score: 1.000)
|
Stock # |
IGL00835
|
Quality Score |
|
Status
|
|
Chromosome |
7 |
Chromosomal Location |
127511689-127525010 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
A to G
at 127519676 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Aspartic acid to Glycine
at position 174
(D174G)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000145731
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033070]
[ENSMUST00000205357]
|
AlphaFold |
Q9D1P2 |
Predicted Effect |
possibly damaging
Transcript: ENSMUST00000033070
AA Change: D200G
PolyPhen 2
Score 0.488 (Sensitivity: 0.88; Specificity: 0.90)
|
SMART Domains |
Protein: ENSMUSP00000033070 Gene: ENSMUSG00000030801 AA Change: D200G
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
35 |
N/A |
INTRINSIC |
CHROMO
|
69 |
123 |
6.6e-8 |
SMART |
Blast:PHD
|
177 |
214 |
4e-6 |
BLAST |
Pfam:MOZ_SAS
|
235 |
412 |
5.7e-90 |
PFAM |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000205357
AA Change: D174G
PolyPhen 2
Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206071
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206364
|
Coding Region Coverage |
|
Validation Efficiency |
|
MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the MYST histone acetylase protein family. The encoded protein has a characteristic MYST domain containing an acetyl-CoA-binding site, a chromodomain typical of proteins which bind histones, and a C2HC-type zinc finger. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012] PHENOTYPE: Mice homozygous for a null allele die prior to gastrulation. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 43 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca12 |
T |
C |
1: 71,341,892 (GRCm39) |
D1023G |
probably damaging |
Het |
Agbl3 |
A |
G |
6: 34,776,667 (GRCm39) |
D391G |
probably damaging |
Het |
Aggf1 |
C |
A |
13: 95,498,985 (GRCm39) |
V450F |
probably damaging |
Het |
Alms1 |
A |
G |
6: 85,599,116 (GRCm39) |
Y1314C |
probably damaging |
Het |
Arfgef3 |
A |
G |
10: 18,537,106 (GRCm39) |
F192L |
probably benign |
Het |
Arnt |
A |
G |
3: 95,397,651 (GRCm39) |
D541G |
probably damaging |
Het |
AU040320 |
A |
G |
4: 126,650,864 (GRCm39) |
|
probably null |
Het |
Cep290 |
A |
T |
10: 100,399,242 (GRCm39) |
R2255* |
probably null |
Het |
Creb3l4 |
T |
A |
3: 90,149,294 (GRCm39) |
H138L |
possibly damaging |
Het |
Crispld2 |
G |
A |
8: 120,737,387 (GRCm39) |
R46H |
probably damaging |
Het |
Crlf3 |
T |
C |
11: 79,938,501 (GRCm39) |
T379A |
probably benign |
Het |
Ctsb |
T |
A |
14: 63,373,099 (GRCm39) |
D85E |
probably damaging |
Het |
Etv2 |
A |
T |
7: 30,333,092 (GRCm39) |
D325E |
probably benign |
Het |
Fggy |
T |
A |
4: 95,725,865 (GRCm39) |
I335N |
possibly damaging |
Het |
Fkbp1b |
C |
T |
12: 4,883,726 (GRCm39) |
G90S |
probably damaging |
Het |
Glra3 |
A |
G |
8: 56,394,012 (GRCm39) |
|
probably benign |
Het |
Gpatch8 |
C |
A |
11: 102,369,375 (GRCm39) |
A1388S |
probably damaging |
Het |
Grin2b |
T |
A |
6: 135,710,568 (GRCm39) |
S993C |
probably damaging |
Het |
Gsg1 |
A |
T |
6: 135,221,090 (GRCm39) |
M103K |
possibly damaging |
Het |
Il12rb2 |
A |
T |
6: 67,337,551 (GRCm39) |
V110D |
probably damaging |
Het |
Krt82 |
A |
T |
15: 101,451,813 (GRCm39) |
I334N |
probably damaging |
Het |
Lrrfip1 |
C |
T |
1: 91,043,140 (GRCm39) |
T515I |
possibly damaging |
Het |
Lrrtm2 |
T |
A |
18: 35,347,292 (GRCm39) |
L3F |
probably benign |
Het |
Man1c1 |
T |
A |
4: 134,291,843 (GRCm39) |
Q575L |
probably damaging |
Het |
Panx1 |
A |
G |
9: 14,919,140 (GRCm39) |
S240P |
probably damaging |
Het |
Phldb2 |
G |
A |
16: 45,571,819 (GRCm39) |
T1191I |
probably damaging |
Het |
Plb1 |
G |
A |
5: 32,521,516 (GRCm39) |
E1456K |
unknown |
Het |
Prtn3 |
A |
G |
10: 79,716,886 (GRCm39) |
T84A |
probably benign |
Het |
R3hdm1 |
T |
C |
1: 128,163,369 (GRCm39) |
|
probably benign |
Het |
Sirpa |
G |
A |
2: 129,451,103 (GRCm39) |
C121Y |
probably damaging |
Het |
Slc9a3 |
C |
A |
13: 74,308,421 (GRCm39) |
H475N |
probably benign |
Het |
Smgc |
A |
T |
15: 91,728,623 (GRCm39) |
D121V |
probably damaging |
Het |
Spata16 |
A |
T |
3: 26,978,411 (GRCm39) |
E459V |
probably damaging |
Het |
Sult2a4 |
T |
A |
7: 13,643,714 (GRCm39) |
E284D |
probably benign |
Het |
Tbc1d32 |
A |
G |
10: 55,965,942 (GRCm39) |
|
probably benign |
Het |
Thsd7a |
A |
C |
6: 12,554,933 (GRCm39) |
V317G |
probably damaging |
Het |
Trh |
T |
C |
6: 92,219,770 (GRCm39) |
E182G |
probably benign |
Het |
Tsc1 |
A |
G |
2: 28,562,478 (GRCm39) |
D368G |
possibly damaging |
Het |
Ttc39d |
T |
G |
17: 80,523,955 (GRCm39) |
C205G |
probably damaging |
Het |
Unc79 |
T |
G |
12: 103,108,149 (GRCm39) |
|
probably benign |
Het |
Vps13d |
A |
T |
4: 144,887,222 (GRCm39) |
D724E |
probably damaging |
Het |
Zc3h14 |
T |
A |
12: 98,713,783 (GRCm39) |
|
probably null |
Het |
Zfp507 |
G |
T |
7: 35,475,463 (GRCm39) |
H917N |
probably damaging |
Het |
|
Other mutations in Kat8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
R0853:Kat8
|
UTSW |
7 |
127,524,396 (GRCm39) |
missense |
probably benign |
0.12 |
R1293:Kat8
|
UTSW |
7 |
127,521,422 (GRCm39) |
critical splice donor site |
probably null |
|
R1926:Kat8
|
UTSW |
7 |
127,514,467 (GRCm39) |
nonsense |
probably null |
|
R3824:Kat8
|
UTSW |
7 |
127,523,654 (GRCm39) |
missense |
possibly damaging |
0.56 |
R4841:Kat8
|
UTSW |
7 |
127,524,366 (GRCm39) |
missense |
probably benign |
0.11 |
R4892:Kat8
|
UTSW |
7 |
127,514,710 (GRCm39) |
missense |
possibly damaging |
0.68 |
R5102:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5104:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5722:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5723:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5724:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5734:Kat8
|
UTSW |
7 |
127,519,751 (GRCm39) |
missense |
probably benign |
0.00 |
R5820:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R5821:Kat8
|
UTSW |
7 |
127,523,988 (GRCm39) |
missense |
probably damaging |
1.00 |
R7059:Kat8
|
UTSW |
7 |
127,524,075 (GRCm39) |
missense |
probably benign |
|
R7158:Kat8
|
UTSW |
7 |
127,521,331 (GRCm39) |
missense |
probably benign |
|
R8263:Kat8
|
UTSW |
7 |
127,523,653 (GRCm39) |
missense |
possibly damaging |
0.94 |
R8941:Kat8
|
UTSW |
7 |
127,524,400 (GRCm39) |
missense |
probably damaging |
0.99 |
R9173:Kat8
|
UTSW |
7 |
127,511,863 (GRCm39) |
missense |
probably benign |
|
R9424:Kat8
|
UTSW |
7 |
127,524,100 (GRCm39) |
missense |
probably benign |
0.34 |
R9452:Kat8
|
UTSW |
7 |
127,524,421 (GRCm39) |
missense |
probably benign |
0.00 |
X0027:Kat8
|
UTSW |
7 |
127,524,430 (GRCm39) |
splice site |
probably null |
|
|
Posted On |
2012-12-06 |