Incidental Mutation 'R0853:Kat8'
| ID |
82617 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat8
|
| Ensembl Gene |
ENSMUSG00000030801 |
| Gene Name |
K(lysine) acetyltransferase 8 |
| Synonyms |
2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF |
| MMRRC Submission |
039032-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R0853 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127511689-127525010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
C to T
at 127524396 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Histidine to Tyrosine
at position 425
(H425Y)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000033070
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000032988]
[ENSMUST00000033070]
[ENSMUST00000205357]
[ENSMUST00000206124]
[ENSMUST00000206568]
|
| AlphaFold |
Q9D1P2 |
| PDB Structure |
Solution Structure of the Tudor Domain from Mouse Hypothetical Protein Homologous to Histone Acetyltransferase [SOLUTION NMR]
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000032988
|
| SMART Domains |
Protein: ENSMUSP00000032988
Gene: ENSMUSG00000030800
| Domain | Start | End | E-Value | Type |
|---|
|
signal peptide
|
1 |
30 |
N/A |
INTRINSIC |
|
Tryp_SPc
|
44 |
281 |
3.55e-98 |
SMART |
|
low complexity region
|
320 |
338 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033070
AA Change: H425Y
PolyPhen 2
Score 0.115 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: H425Y
| 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 benign
Transcript: ENSMUST00000205357
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206124
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206364
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000206568
|
| Meta Mutation Damage Score |
0.2521 |
| Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.7%
- 10x: 97.1%
- 20x: 93.9%
|
| Validation Efficiency |
93% (42/45) |
| 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 |
|---|
| Amotl1 |
G |
T |
9: 14,504,074 (GRCm39) |
P378Q |
probably damaging |
Het |
| Angpt4 |
A |
G |
2: 151,780,847 (GRCm39) |
E365G |
probably damaging |
Het |
| Asb6 |
G |
A |
2: 30,717,042 (GRCm39) |
P61L |
possibly damaging |
Het |
| Atp8a2 |
T |
C |
14: 60,097,719 (GRCm39) |
K770E |
probably benign |
Het |
| Atxn7 |
C |
A |
14: 14,089,465 (GRCm38) |
|
probably benign |
Het |
| Cacul1 |
A |
T |
19: 60,522,664 (GRCm39) |
I290N |
probably damaging |
Het |
| Ccser2 |
A |
C |
14: 36,662,367 (GRCm39) |
S272R |
probably benign |
Het |
| Cfh |
T |
A |
1: 140,033,228 (GRCm39) |
H772L |
probably damaging |
Het |
| Cldn6 |
T |
G |
17: 23,900,438 (GRCm39) |
I134S |
probably damaging |
Het |
| Col3a1 |
T |
A |
1: 45,382,484 (GRCm39) |
|
probably benign |
Het |
| Fam118a |
T |
C |
15: 84,932,726 (GRCm39) |
F156S |
possibly damaging |
Het |
| Fgd4 |
T |
A |
16: 16,292,251 (GRCm39) |
|
probably benign |
Het |
| Gckr |
G |
C |
5: 31,462,392 (GRCm39) |
A242P |
probably damaging |
Het |
| Gcnt4 |
A |
G |
13: 97,083,343 (GRCm39) |
D213G |
probably damaging |
Het |
| Hace1 |
T |
A |
10: 45,524,779 (GRCm39) |
V237E |
probably damaging |
Het |
| Herc3 |
T |
C |
6: 58,853,549 (GRCm39) |
L570P |
probably damaging |
Het |
| Hk1 |
T |
A |
10: 62,107,495 (GRCm39) |
K827* |
probably null |
Het |
| Hyal6 |
T |
C |
6: 24,734,072 (GRCm39) |
F2L |
probably benign |
Het |
| Jak2 |
C |
A |
19: 29,262,326 (GRCm39) |
Y382* |
probably null |
Het |
| Kcnj3 |
T |
C |
2: 55,327,235 (GRCm39) |
F8S |
possibly damaging |
Het |
| Klk1 |
T |
A |
7: 43,870,922 (GRCm39) |
|
probably benign |
Het |
| Klra8 |
T |
C |
6: 130,095,977 (GRCm39) |
Y205C |
probably damaging |
Het |
| Kpnb1 |
T |
C |
11: 97,078,237 (GRCm39) |
E26G |
probably damaging |
Het |
| Mroh2a |
A |
G |
1: 88,186,386 (GRCm39) |
S64G |
probably benign |
Het |
| Naip2 |
T |
C |
13: 100,298,362 (GRCm39) |
E558G |
probably benign |
Het |
| Naip2 |
C |
T |
13: 100,298,368 (GRCm39) |
G556D |
probably benign |
Het |
| Nphp3 |
T |
C |
9: 103,909,132 (GRCm39) |
S781P |
probably benign |
Het |
| Nqo2 |
A |
T |
13: 34,163,560 (GRCm39) |
H73L |
probably benign |
Het |
| P3h3 |
G |
T |
6: 124,831,896 (GRCm39) |
D296E |
probably benign |
Het |
| Pah |
G |
A |
10: 87,412,080 (GRCm39) |
|
probably null |
Het |
| Pcdhb4 |
T |
G |
18: 37,442,938 (GRCm39) |
Y749* |
probably null |
Het |
| Pdgfrb |
C |
A |
18: 61,213,399 (GRCm39) |
N914K |
probably damaging |
Het |
| Ralyl |
A |
G |
3: 14,011,566 (GRCm39) |
Y4C |
probably damaging |
Het |
| Rapgef6 |
T |
A |
11: 54,559,503 (GRCm39) |
I1052N |
probably damaging |
Het |
| Sdk2 |
G |
A |
11: 113,712,241 (GRCm39) |
T1642I |
probably benign |
Het |
| Siglec1 |
G |
A |
2: 130,926,942 (GRCm39) |
T207M |
probably damaging |
Het |
| Taf1b |
T |
C |
12: 24,564,827 (GRCm39) |
L148P |
probably benign |
Het |
| Tbx20 |
A |
G |
9: 24,636,908 (GRCm39) |
M393T |
probably benign |
Het |
| Tdp1 |
G |
A |
12: 99,901,326 (GRCm39) |
R536H |
probably damaging |
Het |
| Tubgcp5 |
T |
A |
7: 55,464,599 (GRCm39) |
|
probably benign |
Het |
| Vezf1 |
A |
T |
11: 88,068,435 (GRCm38) |
|
probably benign |
Het |
| Vmn1r58 |
G |
T |
7: 5,413,324 (GRCm39) |
T302K |
probably damaging |
Het |
| Zfp1002 |
A |
T |
2: 150,097,398 (GRCm39) |
S38R |
probably benign |
Het |
|
| Other mutations in Kat8 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00835:Kat8
|
APN |
7 |
127,519,676 (GRCm39) |
missense |
probably damaging |
1.00 |
|
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 |
|
|
| Predicted Primers |
PCR Primer
(F):5'- AGCCAGGTCCAGAATACACTGTCC -3'
(R):5'- GTAACCACTTCTAGGCTGCCATCC -3'
Sequencing Primer
(F):5'- TCGCTTGGAACCCTAAAGG -3'
(R):5'- TAGGCTGCCATCCTAGAAACTG -3'
|
| Posted On |
2013-11-08 |
Incidental Mutation