Incidental Mutation 'IGL02994:Macroh2a1'
| ID |
407075 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
Macroh2a1
|
| Ensembl Gene |
ENSMUSG00000015937 |
| Gene Name |
macroH2A.1 histone |
| Synonyms |
mH2a1, MACROH2A1.2, H2AF12M, H2afy |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL02994
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56221435-56283439 bp(-) (GRCm39) |
| Type of Mutation |
splice site |
| DNA Base Change (assembly) |
T to C
at 56252112 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016081]
[ENSMUST00000045788]
|
| AlphaFold |
Q9QZQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016081
|
| SMART Domains |
Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
| Domain | Start | End | E-Value | Type |
|---|
|
H2A
|
1 |
120 |
3.52e-72 |
SMART |
|
low complexity region
|
130 |
163 |
N/A |
INTRINSIC |
|
A1pp
|
196 |
330 |
2.72e-28 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000045788
|
| SMART Domains |
Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
| Domain | Start | End | E-Value | Type |
|---|
|
H2A
|
1 |
120 |
3.52e-72 |
SMART |
|
low complexity region
|
130 |
163 |
N/A |
INTRINSIC |
|
A1pp
|
196 |
327 |
4.88e-39 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000139511
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141031
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154564
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000154778
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Nucleosomes consist of approximately 146 bp of DNA wrapped around a histone octamer composed of pairs of each of the four core histones (H2A, H2B, H3, and H4). The chromatin fiber is further compacted through the interaction of a linker histone, H1, with the DNA between the nucleosomes to form higher order chromatin structures. This gene encodes a replication-independent histone that is a member of the histone H2A family. It replaces conventional H2A histones in a subset of nucleosomes where it represses transcription and participates in stable X chromosome inactivation. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Nov 2015]
PHENOTYPE: Mice homozygous for one knock-out allele are viable and fertile and display no gross phenotypic abnormalities. Mice homozygous for a different knock-out allele exhibit female-specific hepatic steatosis. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 31 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Acp3 |
T |
A |
9: 104,186,602 (GRCm39) |
|
probably benign |
Het |
| Ahnak2 |
A |
G |
12: 112,749,827 (GRCm39) |
V137A |
probably damaging |
Het |
| Alk |
G |
T |
17: 72,256,815 (GRCm39) |
F681L |
probably benign |
Het |
| Ankrd35 |
T |
C |
3: 96,590,307 (GRCm39) |
|
probably benign |
Het |
| Aqp3 |
A |
T |
4: 41,093,614 (GRCm39) |
C267S |
probably benign |
Het |
| Arl13b |
T |
A |
16: 62,632,366 (GRCm39) |
I76F |
probably damaging |
Het |
| Ccn2 |
T |
A |
10: 24,472,763 (GRCm39) |
N224K |
probably damaging |
Het |
| Cdc42bpa |
G |
T |
1: 179,827,002 (GRCm39) |
R85L |
probably damaging |
Het |
| Dock4 |
T |
G |
12: 40,829,159 (GRCm39) |
I1015R |
probably damaging |
Het |
| Dst |
A |
G |
1: 34,268,333 (GRCm39) |
|
probably benign |
Het |
| Egfr |
T |
C |
11: 16,861,811 (GRCm39) |
Y1197H |
probably damaging |
Het |
| Endod1 |
A |
G |
9: 14,268,183 (GRCm39) |
V434A |
possibly damaging |
Het |
| Exosc9 |
A |
G |
3: 36,607,287 (GRCm39) |
|
probably benign |
Het |
| Fgg |
G |
T |
3: 82,915,781 (GRCm39) |
R74L |
probably benign |
Het |
| Fmo2 |
A |
T |
1: 162,708,189 (GRCm39) |
D315E |
probably damaging |
Het |
| H2-M3 |
G |
A |
17: 37,581,629 (GRCm39) |
S97N |
probably benign |
Het |
| Ighv14-2 |
T |
A |
12: 113,958,211 (GRCm39) |
T77S |
probably benign |
Het |
| Klhl9 |
A |
T |
4: 88,639,434 (GRCm39) |
L269* |
probably null |
Het |
| Lin37 |
G |
A |
7: 30,256,585 (GRCm39) |
R84W |
probably damaging |
Het |
| Mkln1 |
T |
C |
6: 31,467,378 (GRCm39) |
S31P |
probably damaging |
Het |
| Nacad |
A |
G |
11: 6,549,528 (GRCm39) |
L1221P |
possibly damaging |
Het |
| Nbr1 |
A |
T |
11: 101,447,053 (GRCm39) |
N13I |
probably damaging |
Het |
| Ndfip1 |
T |
C |
18: 38,585,469 (GRCm39) |
I161T |
probably damaging |
Het |
| Nsg1 |
A |
G |
5: 38,312,946 (GRCm39) |
|
probably benign |
Het |
| Rsbn1l |
G |
T |
5: 21,113,232 (GRCm39) |
T430K |
probably damaging |
Het |
| Serpina6 |
A |
G |
12: 103,620,210 (GRCm39) |
S180P |
probably benign |
Het |
| Slc4a5 |
T |
C |
6: 83,249,106 (GRCm39) |
L570P |
probably damaging |
Het |
| Tank |
A |
G |
2: 61,480,636 (GRCm39) |
|
probably benign |
Het |
| Tpd52 |
A |
G |
3: 9,012,590 (GRCm39) |
F76L |
probably benign |
Het |
| Ubox5 |
A |
C |
2: 130,442,237 (GRCm39) |
L150R |
probably benign |
Het |
| Zfp710 |
T |
C |
7: 79,731,581 (GRCm39) |
S253P |
probably benign |
Het |
|
| Other mutations in Macroh2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL00954:Macroh2a1
|
APN |
13 |
56,222,132 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
IGL01294:Macroh2a1
|
APN |
13 |
56,222,113 (GRCm39) |
missense |
probably damaging |
1.00 |
|
IGL02505:Macroh2a1
|
APN |
13 |
56,222,143 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R0270:Macroh2a1
|
UTSW |
13 |
56,243,927 (GRCm39) |
splice site |
probably benign |
|
|
R0988:Macroh2a1
|
UTSW |
13 |
56,231,109 (GRCm39) |
critical splice acceptor site |
probably null |
|
|
R1464:Macroh2a1
|
UTSW |
13 |
56,230,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1464:Macroh2a1
|
UTSW |
13 |
56,230,949 (GRCm39) |
missense |
probably damaging |
0.98 |
|
R1638:Macroh2a1
|
UTSW |
13 |
56,252,722 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1782:Macroh2a1
|
UTSW |
13 |
56,222,134 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R1850:Macroh2a1
|
UTSW |
13 |
56,244,052 (GRCm39) |
splice site |
probably benign |
|
|
R1860:Macroh2a1
|
UTSW |
13 |
56,231,017 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R2228:Macroh2a1
|
UTSW |
13 |
56,232,075 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4674:Macroh2a1
|
UTSW |
13 |
56,230,997 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R5102:Macroh2a1
|
UTSW |
13 |
56,243,936 (GRCm39) |
critical splice donor site |
probably null |
|
|
R5106:Macroh2a1
|
UTSW |
13 |
56,236,106 (GRCm39) |
missense |
possibly damaging |
0.75 |
|
R5161:Macroh2a1
|
UTSW |
13 |
56,237,594 (GRCm39) |
missense |
probably benign |
0.05 |
|
R5862:Macroh2a1
|
UTSW |
13 |
56,222,084 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6165:Macroh2a1
|
UTSW |
13 |
56,252,268 (GRCm39) |
missense |
probably damaging |
0.97 |
|
R6588:Macroh2a1
|
UTSW |
13 |
56,252,302 (GRCm39) |
missense |
possibly damaging |
0.90 |
|
R6994:Macroh2a1
|
UTSW |
13 |
56,237,643 (GRCm39) |
missense |
probably benign |
0.11 |
|
R7669:Macroh2a1
|
UTSW |
13 |
56,276,146 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9152:Macroh2a1
|
UTSW |
13 |
56,232,004 (GRCm39) |
frame shift |
probably null |
|
|
R9732:Macroh2a1
|
UTSW |
13 |
56,243,976 (GRCm39) |
missense |
probably benign |
0.26 |
|
| Posted On |
2016-08-02 |
Incidental Mutation