Incidental Mutation 'R1293:Kat8'
| ID |
150707 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat8
|
| Ensembl Gene |
ENSMUSG00000030801 |
| Gene Name |
K(lysine) acetyltransferase 8 |
| Synonyms |
2010203C02Rik, D7Ertd629e, 5830450F21Rik, Myst1, MOF |
| MMRRC Submission |
039359-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R1293 (G1)
|
| Quality Score |
194 |
|
Status
|
Not validated
|
| Chromosome |
7 |
| Chromosomal Location |
127511689-127525010 bp(+) (GRCm39) |
| Type of Mutation |
critical splice donor site (2 bp from exon) |
| DNA Base Change (assembly) |
T to C
at 127521422 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| 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 null
Transcript: ENSMUST00000033070
|
| SMART Domains |
Protein: ENSMUSP00000033070
Gene: ENSMUSG00000030801
| 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
|
| Coding Region Coverage |
- 1x: 98.9%
- 3x: 98.1%
- 10x: 95.7%
- 20x: 90.5%
|
| 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: 30 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acss2 |
G |
A |
2: 155,393,141 (GRCm39) |
R289Q |
probably benign |
Het |
| Adgrl4 |
G |
A |
3: 151,213,081 (GRCm39) |
E374K |
probably benign |
Het |
| Ate1 |
G |
A |
7: 129,996,455 (GRCm39) |
R505C |
probably benign |
Het |
| Cntn4 |
T |
C |
6: 106,330,685 (GRCm39) |
I101T |
probably benign |
Het |
| Dmtf1 |
T |
A |
5: 9,190,383 (GRCm39) |
|
probably null |
Het |
| Dnah17 |
C |
A |
11: 118,017,963 (GRCm39) |
|
probably null |
Het |
| Efhc1 |
A |
G |
1: 21,048,996 (GRCm39) |
T470A |
probably damaging |
Het |
| Fam118b |
A |
T |
9: 35,132,721 (GRCm39) |
Y313N |
probably damaging |
Het |
| Gm10142 |
T |
C |
10: 77,551,869 (GRCm39) |
S77P |
probably benign |
Het |
| Lrp2 |
T |
C |
2: 69,353,646 (GRCm39) |
|
probably null |
Het |
| Lrrc10 |
A |
G |
10: 116,881,838 (GRCm39) |
T171A |
probably benign |
Het |
| Mcidas |
A |
G |
13: 113,133,926 (GRCm39) |
T137A |
probably benign |
Het |
| Med1 |
G |
A |
11: 98,047,862 (GRCm39) |
T978I |
possibly damaging |
Het |
| Muc6 |
C |
A |
7: 141,238,255 (GRCm39) |
C75F |
probably damaging |
Het |
| Olfm3 |
A |
G |
3: 114,895,579 (GRCm39) |
I154V |
possibly damaging |
Het |
| Or2ag15 |
A |
G |
7: 106,341,058 (GRCm39) |
C28R |
probably damaging |
Het |
| Or2y12 |
G |
A |
11: 49,426,393 (GRCm39) |
C127Y |
probably damaging |
Het |
| Or5ak22 |
T |
A |
2: 85,230,697 (GRCm39) |
|
probably null |
Het |
| Or7g30 |
A |
T |
9: 19,352,728 (GRCm39) |
E173V |
probably benign |
Het |
| Rsrc1 |
G |
A |
3: 67,263,612 (GRCm39) |
R324Q |
probably damaging |
Het |
| Samd9l |
G |
T |
6: 3,373,947 (GRCm39) |
P1105T |
possibly damaging |
Het |
| Sgcb |
C |
A |
5: 73,792,870 (GRCm39) |
V311F |
probably benign |
Het |
| Siglec1 |
A |
G |
2: 130,915,451 (GRCm39) |
V1380A |
probably benign |
Het |
| Spred1 |
C |
T |
2: 117,007,889 (GRCm39) |
P265L |
probably damaging |
Het |
| Unc13b |
T |
A |
4: 43,235,190 (GRCm39) |
H3259Q |
probably damaging |
Het |
| Unc13c |
C |
T |
9: 73,481,356 (GRCm39) |
D1694N |
probably benign |
Het |
| Usp24 |
A |
G |
4: 106,280,750 (GRCm39) |
R2355G |
probably benign |
Het |
| Vmn1r53 |
T |
A |
6: 90,201,196 (GRCm39) |
N43Y |
possibly damaging |
Het |
| Wtip |
T |
C |
7: 33,809,646 (GRCm39) |
S359G |
possibly damaging |
Het |
| Zfp984 |
T |
A |
4: 147,840,398 (GRCm39) |
K151M |
possibly 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 |
|
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'- CTGCTGATGAGAAACCAGGGTCAC -3'
(R):5'- ACAGTCTGTCTCTAGGCTCCAGAAC -3'
Sequencing Primer
(F):5'- ATAAGGTGTTATACATAGGGCCTGC -3'
(R):5'- TTGTCAGCCAAGGAGTCCC -3'
|
| Posted On |
2014-01-29 |
Incidental Mutation