Incidental Mutation 'R2089:Hat1'
| ID |
231635 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Hat1
|
| Ensembl Gene |
ENSMUSG00000027018 |
| Gene Name |
histone aminotransferase 1 |
| Synonyms |
KAT1, 2410071B14Rik |
| MMRRC Submission |
040094-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably essential
(E-score: 0.948)
|
| Stock # |
R2089 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
2 |
| Chromosomal Location |
71219604-71271966 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 71264378 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Alanine
at position 272
(V272A)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000107750
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000028408]
[ENSMUST00000112122]
|
| AlphaFold |
Q8BY71 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000028408
|
| SMART Domains |
Protein: ENSMUSP00000028408
Gene: ENSMUSG00000027018
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hat1_N
|
23 |
184 |
1.3e-49 |
PFAM |
|
coiled coil region
|
386 |
416 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000112122
AA Change: V272A
PolyPhen 2
Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000107750
Gene: ENSMUSG00000027018
AA Change: V272A
| Domain | Start | End | E-Value | Type |
|---|
|
Pfam:Hat1_N
|
22 |
184 |
4.4e-49 |
PFAM |
|
coiled coil region
|
393 |
423 |
N/A |
INTRINSIC |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000145147
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.6%
- 10x: 97.3%
- 20x: 95.3%
|
| Validation Efficiency |
96% (51/53) |
| MGI Phenotype |
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a type B histone acetyltransferase (HAT) that is involved in the rapid acetylation of newly synthesized cytoplasmic histones, which are in turn imported into the nucleus for de novo deposition onto nascent DNA chains. Histone acetylation, particularly of histone H4, plays an important role in replication-dependent chromatin assembly. Specifically, this HAT can acetylate soluble but not nucleosomal histone H4 at lysines 5 and 12, and to a lesser degree, histone H2A at lysine 5. Alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jun 2009]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal, perinatal and neonatal lethality with impaired lung maturation, atelectasis, respiratory failure, craniofacial defects and decreased proliferation of mouse embryonic fibroblasts. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 51 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 4921504E06Rik |
G |
C |
2: 19,522,357 (GRCm39) |
N247K |
probably damaging |
Het |
| 4930402F06Rik |
T |
C |
2: 35,266,079 (GRCm39) |
K197R |
probably benign |
Het |
| Adgrl1 |
T |
C |
8: 84,661,093 (GRCm39) |
I862T |
probably damaging |
Het |
| Agbl1 |
G |
A |
7: 76,239,248 (GRCm39) |
V583M |
probably damaging |
Het |
| Apba2 |
T |
A |
7: 64,345,341 (GRCm39) |
V177D |
probably benign |
Het |
| Atg14 |
A |
T |
14: 47,780,352 (GRCm39) |
I474N |
probably damaging |
Het |
| Bicdl1 |
A |
G |
5: 115,862,638 (GRCm39) |
S206P |
probably damaging |
Het |
| Bltp1 |
C |
T |
3: 37,042,405 (GRCm39) |
T2797I |
probably damaging |
Het |
| Calhm3 |
T |
A |
19: 47,140,430 (GRCm39) |
D221V |
probably damaging |
Het |
| Ccdc93 |
T |
A |
1: 121,411,071 (GRCm39) |
|
probably null |
Het |
| Dab1 |
C |
T |
4: 104,588,948 (GRCm39) |
A524V |
probably benign |
Het |
| Dido1 |
A |
T |
2: 180,303,677 (GRCm39) |
V1409E |
probably benign |
Het |
| Dsc2 |
G |
A |
18: 20,166,351 (GRCm39) |
T760I |
possibly damaging |
Het |
| Etnk2 |
T |
G |
1: 133,304,791 (GRCm39) |
|
probably null |
Het |
| Gbp7 |
A |
T |
3: 142,240,383 (GRCm39) |
I34F |
probably damaging |
Het |
| Gbp7 |
A |
T |
3: 142,251,316 (GRCm39) |
|
probably benign |
Het |
| Gpr37 |
A |
G |
6: 25,689,062 (GRCm39) |
S12P |
possibly damaging |
Het |
| Grxcr1 |
T |
C |
5: 68,267,755 (GRCm39) |
I168T |
probably damaging |
Het |
| Igkv8-30 |
A |
C |
6: 70,094,070 (GRCm39) |
C114G |
probably damaging |
Het |
| Lrrc4 |
T |
G |
6: 28,830,586 (GRCm39) |
D343A |
probably benign |
Het |
| Mars1 |
A |
G |
10: 127,135,154 (GRCm39) |
S646P |
probably damaging |
Het |
| Micu3 |
G |
A |
8: 40,761,413 (GRCm39) |
G108R |
probably benign |
Het |
| Mterf1b |
A |
T |
5: 4,247,057 (GRCm39) |
T233S |
possibly damaging |
Het |
| Myrf |
A |
T |
19: 10,201,964 (GRCm39) |
V171D |
possibly damaging |
Het |
| Nbas |
G |
A |
12: 13,411,046 (GRCm39) |
D897N |
probably benign |
Het |
| Nfx1 |
T |
C |
4: 40,977,004 (GRCm39) |
V226A |
probably benign |
Het |
| Nrros |
C |
T |
16: 31,962,975 (GRCm39) |
W311* |
probably null |
Het |
| Ntrk2 |
A |
G |
13: 59,007,115 (GRCm39) |
H239R |
possibly damaging |
Het |
| Or10g9 |
T |
C |
9: 39,912,500 (GRCm39) |
T8A |
probably benign |
Het |
| Pcdhb18 |
T |
C |
18: 37,623,653 (GRCm39) |
S328P |
probably damaging |
Het |
| Pigm |
T |
C |
1: 172,205,100 (GRCm39) |
Y279H |
probably damaging |
Het |
| Pik3cd |
A |
G |
4: 149,737,156 (GRCm39) |
L880P |
probably damaging |
Het |
| Plaat3 |
A |
G |
19: 7,556,474 (GRCm39) |
I92V |
probably damaging |
Het |
| Ptger4 |
T |
A |
15: 5,272,326 (GRCm39) |
I98F |
possibly damaging |
Het |
| Rasl11a |
T |
A |
5: 146,783,927 (GRCm39) |
I124N |
probably damaging |
Het |
| Rest |
A |
G |
5: 77,429,126 (GRCm39) |
K515R |
possibly damaging |
Het |
| Ryr1 |
A |
G |
7: 28,785,474 (GRCm39) |
L1746P |
probably damaging |
Het |
| Ryr2 |
G |
T |
13: 11,960,863 (GRCm39) |
T25K |
probably benign |
Het |
| Serpina3g |
A |
T |
12: 104,205,417 (GRCm39) |
D52V |
probably damaging |
Het |
| Skint6 |
T |
C |
4: 112,703,881 (GRCm39) |
N998S |
probably benign |
Het |
| Sntg1 |
T |
A |
1: 8,665,763 (GRCm39) |
T184S |
probably benign |
Het |
| Ssbp1 |
A |
G |
6: 40,453,433 (GRCm39) |
Y73C |
probably null |
Het |
| Suclg1 |
A |
G |
6: 73,241,259 (GRCm39) |
K193R |
probably benign |
Het |
| Tnrc18 |
A |
C |
5: 142,759,396 (GRCm39) |
S813R |
unknown |
Het |
| Tnrc6a |
T |
C |
7: 122,771,343 (GRCm39) |
|
probably null |
Het |
| Trap1 |
A |
C |
16: 3,863,903 (GRCm39) |
Y472* |
probably null |
Het |
| Trpm8 |
T |
C |
1: 88,271,048 (GRCm39) |
I446T |
probably damaging |
Het |
| Tti2 |
T |
C |
8: 31,644,294 (GRCm39) |
L297P |
probably damaging |
Het |
| Umodl1 |
A |
G |
17: 31,190,893 (GRCm39) |
M247V |
probably benign |
Het |
| Unc80 |
T |
A |
1: 66,710,874 (GRCm39) |
|
probably benign |
Het |
| Zfp174 |
A |
G |
16: 3,672,506 (GRCm39) |
R352G |
possibly damaging |
Het |
|
| Other mutations in Hat1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02728:Hat1
|
APN |
2 |
71,251,604 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02945:Hat1
|
APN |
2 |
71,251,037 (GRCm39) |
missense |
probably benign |
0.01 |
|
IGL02796:Hat1
|
UTSW |
2 |
71,250,700 (GRCm39) |
critical splice donor site |
probably null |
|
|
R0789:Hat1
|
UTSW |
2 |
71,252,088 (GRCm39) |
splice site |
probably benign |
|
|
R0907:Hat1
|
UTSW |
2 |
71,250,961 (GRCm39) |
nonsense |
probably null |
|
|
R1412:Hat1
|
UTSW |
2 |
71,250,961 (GRCm39) |
nonsense |
probably null |
|
|
R1571:Hat1
|
UTSW |
2 |
71,264,519 (GRCm39) |
missense |
probably benign |
|
|
R1868:Hat1
|
UTSW |
2 |
71,251,627 (GRCm39) |
nonsense |
probably null |
|
|
R1981:Hat1
|
UTSW |
2 |
71,220,321 (GRCm39) |
missense |
probably benign |
0.01 |
|
R2064:Hat1
|
UTSW |
2 |
71,240,504 (GRCm39) |
missense |
possibly damaging |
0.71 |
|
R2091:Hat1
|
UTSW |
2 |
71,264,378 (GRCm39) |
missense |
probably benign |
0.12 |
|
R2091:Hat1
|
UTSW |
2 |
71,264,378 (GRCm39) |
missense |
probably benign |
0.12 |
|
R4115:Hat1
|
UTSW |
2 |
71,271,566 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5579:Hat1
|
UTSW |
2 |
71,240,582 (GRCm39) |
missense |
possibly damaging |
0.86 |
|
R5650:Hat1
|
UTSW |
2 |
71,264,378 (GRCm39) |
missense |
probably benign |
0.12 |
|
R5681:Hat1
|
UTSW |
2 |
71,264,553 (GRCm39) |
splice site |
probably null |
|
|
R5895:Hat1
|
UTSW |
2 |
71,239,357 (GRCm39) |
missense |
possibly damaging |
0.67 |
|
R6075:Hat1
|
UTSW |
2 |
71,240,585 (GRCm39) |
missense |
probably benign |
0.29 |
|
R6621:Hat1
|
UTSW |
2 |
71,252,059 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7155:Hat1
|
UTSW |
2 |
71,251,595 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R7506:Hat1
|
UTSW |
2 |
71,250,691 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R7644:Hat1
|
UTSW |
2 |
71,240,525 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8255:Hat1
|
UTSW |
2 |
71,239,347 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R8890:Hat1
|
UTSW |
2 |
71,269,137 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9002:Hat1
|
UTSW |
2 |
71,271,647 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9387:Hat1
|
UTSW |
2 |
71,264,512 (GRCm39) |
missense |
possibly damaging |
0.62 |
|
R9786:Hat1
|
UTSW |
2 |
71,250,959 (GRCm39) |
missense |
possibly damaging |
0.45 |
|
| Predicted Primers |
PCR Primer
(F):5'- GCCACATTGACTGCAGCTAAA -3'
(R):5'- CCACACATCTTAATGTCCTTACAAT -3'
Sequencing Primer
(F):5'- TTTAACCCCAGCATTCAGGAGG -3'
(R):5'- TCTTTCCCGGGAGAAACT -3'
|
| Posted On |
2014-09-18 |
Incidental Mutation