Incidental Mutation 'R5196:Kat6a'
| ID |
400244 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Kat6a
|
| Ensembl Gene |
ENSMUSG00000031540 |
| Gene Name |
K(lysine) acetyltransferase 6A |
| Synonyms |
Zfp220, Myst3, MOZ, 9930021N24Rik |
| MMRRC Submission |
042772-MU
|
| Accession Numbers |
|
| Essential gene? |
Essential
(E-score: 1.000)
|
| Stock # |
R5196 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
8 |
| Chromosomal Location |
23349551-23433275 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 23401729 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Arginine to Histidine
at position 366
(R366H)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000106324
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000044331]
[ENSMUST00000110696]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000044331
AA Change: R366H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000038181
Gene: ENSMUSG00000031540
AA Change: R366H
| Domain | Start | End | E-Value | Type |
|---|
|
H15
|
85 |
165 |
1.88e-5 |
SMART |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PHD
|
208 |
263 |
1.7e-7 |
SMART |
|
RING
|
209 |
262 |
1.28e0 |
SMART |
|
PHD
|
264 |
311 |
9.84e-13 |
SMART |
|
RING
|
265 |
310 |
4.15e0 |
SMART |
|
low complexity region
|
371 |
378 |
N/A |
INTRINSIC |
|
Pfam:MOZ_SAS
|
561 |
748 |
5.9e-92 |
PFAM |
|
low complexity region
|
787 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1029 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1273 |
N/A |
INTRINSIC |
|
coiled coil region
|
1278 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1397 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1471 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1528 |
1542 |
N/A |
INTRINSIC |
|
low complexity region
|
1569 |
1597 |
N/A |
INTRINSIC |
|
low complexity region
|
1641 |
1700 |
N/A |
INTRINSIC |
|
low complexity region
|
1802 |
1813 |
N/A |
INTRINSIC |
|
low complexity region
|
1950 |
1958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000110696
AA Change: R366H
PolyPhen 2
Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
|
| SMART Domains |
Protein: ENSMUSP00000106324
Gene: ENSMUSG00000031540
AA Change: R366H
| Domain | Start | End | E-Value | Type |
|---|
|
H15
|
85 |
165 |
1.88e-5 |
SMART |
|
low complexity region
|
184 |
195 |
N/A |
INTRINSIC |
|
PHD
|
208 |
263 |
1.7e-7 |
SMART |
|
RING
|
209 |
262 |
1.28e0 |
SMART |
|
PHD
|
264 |
311 |
9.84e-13 |
SMART |
|
RING
|
265 |
310 |
4.15e0 |
SMART |
|
low complexity region
|
371 |
378 |
N/A |
INTRINSIC |
|
Pfam:MOZ_SAS
|
564 |
742 |
2.9e-85 |
PFAM |
|
low complexity region
|
787 |
800 |
N/A |
INTRINSIC |
|
low complexity region
|
985 |
1003 |
N/A |
INTRINSIC |
|
low complexity region
|
1011 |
1029 |
N/A |
INTRINSIC |
|
low complexity region
|
1031 |
1044 |
N/A |
INTRINSIC |
|
low complexity region
|
1066 |
1079 |
N/A |
INTRINSIC |
|
low complexity region
|
1149 |
1162 |
N/A |
INTRINSIC |
|
low complexity region
|
1224 |
1238 |
N/A |
INTRINSIC |
|
low complexity region
|
1257 |
1273 |
N/A |
INTRINSIC |
|
coiled coil region
|
1278 |
1308 |
N/A |
INTRINSIC |
|
low complexity region
|
1397 |
1409 |
N/A |
INTRINSIC |
|
low complexity region
|
1471 |
1490 |
N/A |
INTRINSIC |
|
low complexity region
|
1528 |
1542 |
N/A |
INTRINSIC |
|
low complexity region
|
1569 |
1597 |
N/A |
INTRINSIC |
|
low complexity region
|
1641 |
1700 |
N/A |
INTRINSIC |
|
low complexity region
|
1802 |
1813 |
N/A |
INTRINSIC |
|
low complexity region
|
1950 |
1958 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000130718
|
| Meta Mutation Damage Score |
0.6467 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.9%
- 20x: 94.3%
|
| Validation Efficiency |
100% (62/62) |
| 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 MOZ, YBFR2, SAS2, TIP60 family of histone acetyltransferases. The protein is composed of a nuclear localization domain, a double C2H2 zinc finger domain that binds to acetylated histone tails, a histone acetyl-transferase domain, a glutamate/aspartate-rich region, and a serine- and methionine-rich transactivation domain. It is part of a complex that acetylates lysine-9 residues in histone 3, and in addition, it acts as a co-activator for several transcription factors. Allelic variants of this gene are associated with autosomal dominant mental retardation-32. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Apr 2015]
PHENOTYPE: Homozygous null mice display perinatal lethality, cyanosis, decreased hematopoietic progenitor cell numbers, and severely impaired spleen and thymus development, but are not anemic. Heterozygotes display strain background dependent reductions in fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 52 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700001O22Rik |
T |
C |
2: 30,686,450 (GRCm39) |
T281A |
possibly damaging |
Het |
| 4930503B20Rik |
A |
G |
3: 146,352,018 (GRCm39) |
|
probably benign |
Het |
| 6330409D20Rik |
T |
A |
2: 32,630,552 (GRCm39) |
|
probably benign |
Het |
| Afg3l2 |
G |
T |
18: 67,554,329 (GRCm39) |
L458M |
probably damaging |
Het |
| Amigo2 |
A |
G |
15: 97,143,942 (GRCm39) |
F160S |
probably damaging |
Het |
| Arcn1 |
A |
T |
9: 44,671,324 (GRCm39) |
L68M |
probably damaging |
Het |
| Arhgef25 |
A |
G |
10: 127,020,978 (GRCm39) |
S303P |
probably damaging |
Het |
| Asph |
A |
T |
4: 9,607,830 (GRCm39) |
S163T |
probably damaging |
Het |
| Birc6 |
T |
C |
17: 74,913,136 (GRCm39) |
|
probably benign |
Het |
| Bltp3a |
A |
G |
17: 28,075,737 (GRCm39) |
I5V |
probably benign |
Het |
| Ccm2 |
G |
A |
11: 6,511,181 (GRCm39) |
|
probably benign |
Het |
| Cdc42bpa |
T |
C |
1: 179,899,978 (GRCm39) |
V431A |
probably benign |
Het |
| Cdh20 |
T |
A |
1: 110,065,730 (GRCm39) |
M668K |
probably damaging |
Het |
| Cfap43 |
A |
T |
19: 47,814,364 (GRCm39) |
W157R |
probably damaging |
Het |
| Chrm5 |
T |
C |
2: 112,310,729 (GRCm39) |
Y129C |
probably damaging |
Het |
| Chrna5 |
A |
G |
9: 54,913,803 (GRCm39) |
I421V |
possibly damaging |
Het |
| Clk1 |
T |
A |
1: 58,453,772 (GRCm39) |
T301S |
probably benign |
Het |
| Col6a3 |
G |
T |
1: 90,744,260 (GRCm39) |
|
probably null |
Het |
| Eml2 |
G |
A |
7: 18,935,088 (GRCm39) |
V432I |
probably damaging |
Het |
| Fbxw19 |
T |
C |
9: 109,313,496 (GRCm39) |
Y234C |
probably benign |
Het |
| Fgd4 |
T |
A |
16: 16,302,006 (GRCm39) |
N183I |
probably benign |
Het |
| Fnip2 |
T |
C |
3: 79,479,845 (GRCm39) |
|
probably benign |
Het |
| Gask1a |
T |
G |
9: 121,794,727 (GRCm39) |
S294A |
probably benign |
Het |
| Gm9847 |
T |
A |
12: 14,545,016 (GRCm39) |
|
noncoding transcript |
Het |
| H2-T23 |
A |
G |
17: 36,343,499 (GRCm39) |
|
probably null |
Het |
| Hdlbp |
T |
C |
1: 93,347,915 (GRCm39) |
E613G |
probably damaging |
Het |
| Kctd4 |
A |
G |
14: 76,200,127 (GRCm39) |
T33A |
probably benign |
Het |
| Klrb1c |
T |
A |
6: 128,757,262 (GRCm39) |
S268C |
probably benign |
Het |
| Lgr6 |
C |
T |
1: 134,921,748 (GRCm39) |
A199T |
probably damaging |
Het |
| Lrrfip1 |
A |
G |
1: 91,042,330 (GRCm39) |
E245G |
probably damaging |
Het |
| Mast3 |
A |
T |
8: 71,240,889 (GRCm39) |
I220N |
probably damaging |
Het |
| Mfap3 |
A |
G |
11: 57,420,639 (GRCm39) |
T207A |
probably damaging |
Het |
| Mtdh |
G |
T |
15: 34,118,150 (GRCm39) |
K75N |
probably damaging |
Het |
| Mybpc1 |
A |
G |
10: 88,372,213 (GRCm39) |
Y806H |
probably damaging |
Het |
| Ntng1 |
T |
C |
3: 109,842,299 (GRCm39) |
D158G |
probably damaging |
Het |
| Odr4 |
T |
A |
1: 150,258,140 (GRCm39) |
D165V |
probably damaging |
Het |
| Or5d46 |
A |
G |
2: 88,170,092 (GRCm39) |
Y61C |
possibly damaging |
Het |
| Or6c216 |
T |
A |
10: 129,678,650 (GRCm39) |
D87V |
possibly damaging |
Het |
| Pask |
A |
G |
1: 93,237,805 (GRCm39) |
|
probably benign |
Het |
| Pif1 |
G |
T |
9: 65,495,374 (GRCm39) |
A95S |
probably benign |
Het |
| Plppr2 |
T |
C |
9: 21,852,428 (GRCm39) |
F104S |
probably damaging |
Het |
| Prmt9 |
G |
A |
8: 78,291,626 (GRCm39) |
V333M |
probably benign |
Het |
| Pten |
A |
T |
19: 32,792,897 (GRCm39) |
M239L |
probably benign |
Het |
| Rb1cc1 |
A |
G |
1: 6,304,454 (GRCm39) |
D67G |
probably damaging |
Het |
| Reg2 |
T |
A |
6: 78,382,530 (GRCm39) |
L12* |
probably null |
Het |
| Rufy4 |
T |
C |
1: 74,186,822 (GRCm39) |
C537R |
probably damaging |
Het |
| Slc5a7 |
C |
A |
17: 54,588,750 (GRCm39) |
|
probably null |
Het |
| Tcaf3 |
G |
T |
6: 42,570,649 (GRCm39) |
R368S |
probably benign |
Het |
| Tfcp2 |
A |
G |
15: 100,418,595 (GRCm39) |
V189A |
probably damaging |
Het |
| Wdr12 |
T |
C |
1: 60,126,243 (GRCm39) |
S191G |
probably damaging |
Het |
| Zfp536 |
G |
A |
7: 37,180,185 (GRCm39) |
R807W |
probably damaging |
Het |
| Zfp647 |
G |
A |
15: 76,796,285 (GRCm39) |
P125L |
probably damaging |
Het |
|
| Other mutations in Kat6a |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00921:Kat6a
|
APN |
8 |
23,430,279 (GRCm39) |
missense |
unknown |
|
|
IGL01093:Kat6a
|
APN |
8 |
23,429,337 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
IGL01364:Kat6a
|
APN |
8 |
23,397,716 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL01868:Kat6a
|
APN |
8 |
23,416,471 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02477:Kat6a
|
APN |
8 |
23,419,316 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02792:Kat6a
|
APN |
8 |
23,428,316 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL03243:Kat6a
|
APN |
8 |
23,400,238 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
Anning
|
UTSW |
8 |
23,422,129 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
Jackal
|
UTSW |
8 |
23,420,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
lobo
|
UTSW |
8 |
23,400,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
lord
|
UTSW |
8 |
23,352,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
master
|
UTSW |
8 |
23,352,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R0018:Kat6a
|
UTSW |
8 |
23,419,289 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0018:Kat6a
|
UTSW |
8 |
23,419,289 (GRCm39) |
missense |
possibly damaging |
0.74 |
|
R0284:Kat6a
|
UTSW |
8 |
23,429,819 (GRCm39) |
missense |
unknown |
|
|
R0636:Kat6a
|
UTSW |
8 |
23,429,339 (GRCm39) |
missense |
possibly damaging |
0.73 |
|
R0883:Kat6a
|
UTSW |
8 |
23,352,230 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1457:Kat6a
|
UTSW |
8 |
23,428,668 (GRCm39) |
missense |
probably benign |
|
|
R1753:Kat6a
|
UTSW |
8 |
23,425,813 (GRCm39) |
missense |
probably benign |
0.09 |
|
R2059:Kat6a
|
UTSW |
8 |
23,429,321 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R2155:Kat6a
|
UTSW |
8 |
23,425,663 (GRCm39) |
small deletion |
probably benign |
|
|
R2764:Kat6a
|
UTSW |
8 |
23,422,194 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3724:Kat6a
|
UTSW |
8 |
23,352,804 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R3824:Kat6a
|
UTSW |
8 |
23,352,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R3825:Kat6a
|
UTSW |
8 |
23,352,380 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4370:Kat6a
|
UTSW |
8 |
23,401,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4371:Kat6a
|
UTSW |
8 |
23,401,945 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R4457:Kat6a
|
UTSW |
8 |
23,422,129 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R4600:Kat6a
|
UTSW |
8 |
23,429,327 (GRCm39) |
missense |
probably benign |
0.18 |
|
R4792:Kat6a
|
UTSW |
8 |
23,430,592 (GRCm39) |
missense |
unknown |
|
|
R4896:Kat6a
|
UTSW |
8 |
23,428,329 (GRCm39) |
missense |
probably benign |
0.07 |
|
R5069:Kat6a
|
UTSW |
8 |
23,393,149 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5192:Kat6a
|
UTSW |
8 |
23,401,729 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5279:Kat6a
|
UTSW |
8 |
23,429,664 (GRCm39) |
small deletion |
probably benign |
|
|
R5331:Kat6a
|
UTSW |
8 |
23,430,000 (GRCm39) |
missense |
unknown |
|
|
R5480:Kat6a
|
UTSW |
8 |
23,428,323 (GRCm39) |
missense |
possibly damaging |
0.77 |
|
R5659:Kat6a
|
UTSW |
8 |
23,428,176 (GRCm39) |
nonsense |
probably null |
|
|
R5759:Kat6a
|
UTSW |
8 |
23,428,028 (GRCm39) |
missense |
probably benign |
0.04 |
|
R5787:Kat6a
|
UTSW |
8 |
23,422,663 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R5892:Kat6a
|
UTSW |
8 |
23,428,305 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R5923:Kat6a
|
UTSW |
8 |
23,429,495 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6049:Kat6a
|
UTSW |
8 |
23,429,053 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R6223:Kat6a
|
UTSW |
8 |
23,430,442 (GRCm39) |
missense |
unknown |
|
|
R6276:Kat6a
|
UTSW |
8 |
23,429,421 (GRCm39) |
missense |
possibly damaging |
0.96 |
|
R6279:Kat6a
|
UTSW |
8 |
23,429,628 (GRCm39) |
missense |
unknown |
|
|
R6300:Kat6a
|
UTSW |
8 |
23,429,628 (GRCm39) |
missense |
unknown |
|
|
R6307:Kat6a
|
UTSW |
8 |
23,430,384 (GRCm39) |
missense |
unknown |
|
|
R6562:Kat6a
|
UTSW |
8 |
23,401,803 (GRCm39) |
missense |
probably benign |
0.04 |
|
R6807:Kat6a
|
UTSW |
8 |
23,430,384 (GRCm39) |
missense |
unknown |
|
|
R6852:Kat6a
|
UTSW |
8 |
23,428,676 (GRCm39) |
missense |
probably benign |
0.18 |
|
R6875:Kat6a
|
UTSW |
8 |
23,422,377 (GRCm39) |
missense |
probably benign |
0.02 |
|
R6895:Kat6a
|
UTSW |
8 |
23,425,799 (GRCm39) |
missense |
possibly damaging |
0.88 |
|
R6913:Kat6a
|
UTSW |
8 |
23,393,215 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7047:Kat6a
|
UTSW |
8 |
23,428,554 (GRCm39) |
missense |
possibly damaging |
0.53 |
|
R7235:Kat6a
|
UTSW |
8 |
23,404,285 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R7243:Kat6a
|
UTSW |
8 |
23,428,791 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7454:Kat6a
|
UTSW |
8 |
23,425,788 (GRCm39) |
missense |
possibly damaging |
0.56 |
|
R7618:Kat6a
|
UTSW |
8 |
23,352,578 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7768:Kat6a
|
UTSW |
8 |
23,393,228 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7980:Kat6a
|
UTSW |
8 |
23,416,432 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R8051:Kat6a
|
UTSW |
8 |
23,400,265 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R8408:Kat6a
|
UTSW |
8 |
23,352,275 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8725:Kat6a
|
UTSW |
8 |
23,398,293 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8743:Kat6a
|
UTSW |
8 |
23,429,022 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R8904:Kat6a
|
UTSW |
8 |
23,428,824 (GRCm39) |
missense |
possibly damaging |
0.85 |
|
R9014:Kat6a
|
UTSW |
8 |
23,430,087 (GRCm39) |
missense |
unknown |
|
|
R9019:Kat6a
|
UTSW |
8 |
23,425,754 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R9091:Kat6a
|
UTSW |
8 |
23,420,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9142:Kat6a
|
UTSW |
8 |
23,430,072 (GRCm39) |
missense |
unknown |
|
|
R9229:Kat6a
|
UTSW |
8 |
23,429,987 (GRCm39) |
missense |
unknown |
|
|
R9270:Kat6a
|
UTSW |
8 |
23,420,190 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R9367:Kat6a
|
UTSW |
8 |
23,400,156 (GRCm39) |
missense |
possibly damaging |
0.76 |
|
R9421:Kat6a
|
UTSW |
8 |
23,398,322 (GRCm39) |
missense |
probably damaging |
1.00 |
|
X0050:Kat6a
|
UTSW |
8 |
23,430,497 (GRCm39) |
nonsense |
probably null |
|
|
Z1088:Kat6a
|
UTSW |
8 |
23,425,517 (GRCm39) |
nonsense |
probably null |
|
|
Z1176:Kat6a
|
UTSW |
8 |
23,400,170 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Z1177:Kat6a
|
UTSW |
8 |
23,430,182 (GRCm39) |
missense |
unknown |
|
|
Z1190:Kat6a
|
UTSW |
8 |
23,430,245 (GRCm39) |
missense |
unknown |
|
|
| Predicted Primers |
PCR Primer
(F):5'- ACTGTAAGCTAGGCTTCCTGG -3'
(R):5'- TTTCCGCCCATCAGGAGAAG -3'
Sequencing Primer
(F):5'- GCTATATAGACCAGGCTTGCCTG -3'
(R):5'- CCCATCAGGAGAAGGGGTG -3'
|
| Posted On |
2016-07-06 |
Incidental Mutation