Incidental Mutation 'R5821:Kat8'
| ID |
449941 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat8
|
| Ensembl Gene |
ENSMUSG00000030801 |
| Gene Name |
K(lysine) acetyltransferase 8 |
| Synonyms |
2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF |
| MMRRC Submission |
043401-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5821 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
7 |
| Chromosomal Location |
127511689-127525010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 127523988 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Lysine
at position 343
(E343K)
|
| 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 damaging
Transcript: ENSMUST00000033070
AA Change: E343K
PolyPhen 2
Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
|
| SMART Domains |
Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: E343K
| 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 |
0.8881 |
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.6%
- 20x: 96.1%
|
| Validation Efficiency |
100% (55/55) |
| 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: 45 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
A |
T |
2: 30,686,458 (GRCm39) |
V278D |
possibly damaging |
Het |
| Acacb |
A |
G |
5: 114,322,167 (GRCm39) |
D227G |
possibly damaging |
Het |
| Akap9 |
A |
G |
5: 4,096,064 (GRCm39) |
E2313G |
probably benign |
Het |
| Cchcr1 |
A |
T |
17: 35,839,745 (GRCm39) |
E564D |
probably damaging |
Het |
| Cers2 |
G |
A |
3: 95,229,008 (GRCm39) |
|
probably benign |
Het |
| Cfap161 |
A |
G |
7: 83,425,188 (GRCm39) |
I301T |
probably benign |
Het |
| Ciita |
A |
T |
16: 10,329,669 (GRCm39) |
E648V |
possibly damaging |
Het |
| Cir1 |
C |
T |
2: 73,142,804 (GRCm39) |
C10Y |
probably damaging |
Het |
| Clasp1 |
T |
A |
1: 118,518,214 (GRCm39) |
F1087I |
probably damaging |
Het |
| Cped1 |
C |
A |
6: 22,138,681 (GRCm39) |
F415L |
probably benign |
Het |
| Dnah7b |
A |
G |
1: 46,181,292 (GRCm39) |
T1060A |
possibly damaging |
Het |
| Epha5 |
G |
T |
5: 84,232,587 (GRCm39) |
P809H |
probably damaging |
Het |
| Fuca1 |
T |
A |
4: 135,650,273 (GRCm39) |
|
probably null |
Het |
| Galnt2l |
A |
T |
8: 123,627,372 (GRCm39) |
*98R |
probably null |
Het |
| Gm26796 |
G |
A |
12: 80,805,564 (GRCm39) |
R237C |
unknown |
Het |
| Idua |
A |
G |
5: 108,827,600 (GRCm39) |
Y138C |
probably benign |
Het |
| Ighd |
A |
T |
12: 113,373,253 (GRCm39) |
L240H |
probably benign |
Het |
| Ing2 |
C |
G |
8: 48,121,861 (GRCm39) |
C229S |
probably benign |
Het |
| Kctd8 |
A |
T |
5: 69,267,828 (GRCm39) |
N427K |
probably benign |
Het |
| Kif16b |
T |
C |
2: 142,544,586 (GRCm39) |
E1147G |
probably damaging |
Het |
| Kif18a |
G |
A |
2: 109,120,190 (GRCm39) |
|
probably benign |
Het |
| Krt82 |
T |
A |
15: 101,456,820 (GRCm39) |
R187* |
probably null |
Het |
| Lrrk2 |
T |
C |
15: 91,593,593 (GRCm39) |
|
probably null |
Het |
| M1ap |
T |
C |
6: 82,945,083 (GRCm39) |
Y126H |
probably benign |
Het |
| Mmel1 |
A |
G |
4: 154,970,044 (GRCm39) |
N226D |
possibly damaging |
Het |
| Mtmr11 |
A |
G |
3: 96,075,185 (GRCm39) |
D353G |
possibly damaging |
Het |
| Nfkbia |
A |
T |
12: 55,538,005 (GRCm39) |
H149Q |
probably damaging |
Het |
| Nr5a1 |
A |
T |
2: 38,598,511 (GRCm39) |
F95L |
probably damaging |
Het |
| Nutm2 |
A |
G |
13: 50,623,891 (GRCm39) |
Y196C |
probably benign |
Het |
| Oxtr |
A |
G |
6: 112,466,457 (GRCm39) |
I101T |
probably damaging |
Het |
| Pcsk2 |
T |
A |
2: 143,591,035 (GRCm39) |
|
probably null |
Het |
| Pde5a |
T |
C |
3: 122,611,604 (GRCm39) |
I514T |
probably benign |
Het |
| Pign |
A |
G |
1: 105,516,788 (GRCm39) |
W585R |
possibly damaging |
Het |
| Pomgnt1 |
A |
G |
4: 116,012,933 (GRCm39) |
S407G |
probably benign |
Het |
| Ppfia3 |
G |
A |
7: 45,003,040 (GRCm39) |
T372I |
probably damaging |
Het |
| Prrc2b |
A |
T |
2: 32,102,144 (GRCm39) |
E739V |
probably damaging |
Het |
| Ro60 |
A |
G |
1: 143,642,503 (GRCm39) |
V209A |
probably benign |
Het |
| Scn7a |
T |
C |
2: 66,574,047 (GRCm39) |
E192G |
probably damaging |
Het |
| Slmap |
T |
C |
14: 26,183,435 (GRCm39) |
D316G |
probably damaging |
Het |
| Smim8 |
GGTTTAATGAAGAG |
GG |
4: 34,771,259 (GRCm39) |
|
probably benign |
Het |
| Smim8 |
TTTAATGAAGAGCT |
TT |
4: 34,771,261 (GRCm39) |
|
probably benign |
Het |
| Tgm2 |
T |
A |
2: 157,984,974 (GRCm39) |
Y44F |
possibly damaging |
Het |
| Tmc8 |
C |
A |
11: 117,683,455 (GRCm39) |
S670* |
probably null |
Het |
| Tmem145 |
A |
G |
7: 25,014,946 (GRCm39) |
D523G |
probably benign |
Het |
| Vmn2r115 |
G |
A |
17: 23,566,937 (GRCm39) |
G483E |
probably damaging |
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 |
|
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 |
|
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'- ACAACGTGGCCTGCATCTTG -3'
(R):5'- TTTAGGGTTCCAAGCGATCC -3'
Sequencing Primer
(F):5'- GGCCTGCATCTTGACCCTG -3'
(R):5'- AGGGTTCCAAGCGATCCTTCAC -3'
|
| Posted On |
2016-12-20 |
Incidental Mutation