Incidental Mutation 'R4892:Kat8'
| ID |
377342 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat8
|
| Ensembl Gene |
ENSMUSG00000030801 |
| Gene Name |
K(lysine) acetyltransferase 8 |
| Synonyms |
2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF |
| MMRRC Submission |
042497-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R4892 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127511689-127525010 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 127514710 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Isoleucine to Asparagine
at position 123
(I123N)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000145731
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000033070]
[ENSMUST00000205357]
|
| AlphaFold |
Q9D1P2 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000033070
AA Change: I149N
PolyPhen 2
Score 0.439 (Sensitivity: 0.89; Specificity: 0.90)
|
| SMART Domains |
Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
AA Change: I149N
| 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 |
possibly damaging
Transcript: ENSMUST00000205357
AA Change: I123N
PolyPhen 2
Score 0.678 (Sensitivity: 0.86; Specificity: 0.92)
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206071
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000206364
|
| Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.4%
- 10x: 96.6%
- 20x: 93.4%
|
| 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcc12 |
T |
C |
8: 87,236,431 (GRCm39) |
T1128A |
probably benign |
Het |
| Apol11a |
A |
T |
15: 77,401,190 (GRCm39) |
K226* |
probably null |
Het |
| Atp4a |
A |
G |
7: 30,411,899 (GRCm39) |
M45V |
probably benign |
Het |
| Babam1 |
T |
A |
8: 71,855,696 (GRCm39) |
M263K |
probably benign |
Het |
| Capn11 |
GACA |
GA |
17: 45,944,023 (GRCm39) |
|
probably null |
Het |
| Ccdc190 |
C |
A |
1: 169,757,678 (GRCm39) |
L46I |
possibly damaging |
Het |
| Cep131 |
C |
T |
11: 119,958,883 (GRCm39) |
R717H |
probably damaging |
Het |
| Cpt1c |
A |
G |
7: 44,609,012 (GRCm39) |
F770L |
probably benign |
Het |
| Dhx30 |
A |
T |
9: 109,914,924 (GRCm39) |
|
probably null |
Het |
| Dido1 |
G |
A |
2: 180,316,822 (GRCm39) |
Q662* |
probably null |
Het |
| Dip2a |
T |
C |
10: 76,116,593 (GRCm39) |
E910G |
probably benign |
Het |
| Dnah8 |
G |
A |
17: 30,967,542 (GRCm39) |
D2585N |
probably benign |
Het |
| Fmo3 |
T |
A |
1: 162,796,300 (GRCm39) |
I91F |
probably benign |
Het |
| Gdap1 |
A |
C |
1: 17,230,218 (GRCm39) |
D217A |
possibly damaging |
Het |
| Grm1 |
T |
C |
10: 10,595,331 (GRCm39) |
S766G |
possibly damaging |
Het |
| Kcnt2 |
C |
A |
1: 140,440,763 (GRCm39) |
S23* |
probably null |
Het |
| Krt73 |
G |
A |
15: 101,704,244 (GRCm39) |
T432I |
probably damaging |
Het |
| Lgals9 |
T |
A |
11: 78,856,909 (GRCm39) |
I223L |
probably benign |
Het |
| Mpo |
T |
A |
11: 87,693,507 (GRCm39) |
N48K |
probably benign |
Het |
| Myo9a |
T |
G |
9: 59,731,525 (GRCm39) |
H632Q |
probably damaging |
Het |
| Or2y1c |
C |
A |
11: 49,361,043 (GRCm39) |
Q22K |
probably benign |
Het |
| Or9s27 |
A |
G |
1: 92,516,643 (GRCm39) |
N197S |
probably benign |
Het |
| Prelid2 |
A |
G |
18: 42,084,209 (GRCm39) |
F11S |
possibly damaging |
Het |
| Setd1a |
G |
T |
7: 127,377,696 (GRCm39) |
V57L |
probably damaging |
Het |
| Sgip1 |
A |
G |
4: 102,823,431 (GRCm39) |
D704G |
probably damaging |
Het |
| Spryd3 |
T |
C |
15: 102,026,537 (GRCm39) |
E378G |
probably benign |
Het |
| Stk17b |
A |
T |
1: 53,810,770 (GRCm39) |
Y112N |
probably damaging |
Het |
| Syndig1 |
A |
T |
2: 149,741,811 (GRCm39) |
K132N |
probably damaging |
Het |
| Tcf20 |
C |
T |
15: 82,738,400 (GRCm39) |
R1017Q |
possibly damaging |
Het |
| Tenm3 |
T |
A |
8: 48,729,896 (GRCm39) |
D1370V |
probably damaging |
Het |
| Tnrc6a |
C |
T |
7: 122,769,134 (GRCm39) |
T308I |
probably damaging |
Het |
| Ttc29 |
T |
C |
8: 79,060,274 (GRCm39) |
V398A |
probably damaging |
Het |
| Ubr4 |
A |
G |
4: 139,155,828 (GRCm39) |
T2218A |
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 |
|
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 |
|
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'- GCGTCCTAACAGTTAACAGGCG -3'
(R):5'- ATGAGATCGTCCAGTGCTCG -3'
Sequencing Primer
(F):5'- CGACTGGACGAATGGGTG -3'
(R):5'- GACTTCAAGTTTGAGTTCCAGTC -3'
|
| Posted On |
2016-03-17 |
Incidental Mutation