Incidental Mutation 'IGL00954:Macroh2a1'
| ID |
28881 |
| 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 # |
IGL00954
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
56221435-56283439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 56222132 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Serine to Proline
at position 340
(S340P)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016081]
[ENSMUST00000045788]
|
| AlphaFold |
Q9QZQ8 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000016081
AA Change: S343P
PolyPhen 2
Score 0.008 (Sensitivity: 0.96; Specificity: 0.76)
|
| SMART Domains |
Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
AA Change: S343P
| 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 |
possibly damaging
Transcript: ENSMUST00000045788
AA Change: S340P
PolyPhen 2
Score 0.754 (Sensitivity: 0.85; Specificity: 0.92)
|
| SMART Domains |
Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
AA Change: S340P
| 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: ENSMUST00000137835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225993
|
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ablim3 |
C |
T |
18: 61,972,756 (GRCm39) |
|
probably benign |
Het |
| Alox5 |
A |
T |
6: 116,431,260 (GRCm39) |
V56D |
probably damaging |
Het |
| Atp1a2 |
A |
G |
1: 172,118,201 (GRCm39) |
S158P |
probably damaging |
Het |
| B3glct |
T |
A |
5: 149,619,902 (GRCm39) |
M19K |
probably benign |
Het |
| BC049715 |
A |
T |
6: 136,817,093 (GRCm39) |
E111V |
possibly damaging |
Het |
| Casp8ap2 |
C |
A |
4: 32,645,403 (GRCm39) |
T1492K |
probably damaging |
Het |
| Cfap221 |
T |
C |
1: 119,861,939 (GRCm39) |
E612G |
probably damaging |
Het |
| Cttnbp2 |
C |
A |
6: 18,381,061 (GRCm39) |
K868N |
possibly damaging |
Het |
| Dpy19l2 |
T |
A |
9: 24,494,114 (GRCm39) |
N672I |
probably damaging |
Het |
| Ei24 |
A |
T |
9: 36,701,166 (GRCm39) |
I51N |
probably damaging |
Het |
| Gdi2 |
T |
C |
13: 3,606,467 (GRCm39) |
V181A |
probably benign |
Het |
| Ggt1 |
G |
A |
10: 75,420,697 (GRCm39) |
R354Q |
probably benign |
Het |
| Hao1 |
A |
G |
2: 134,340,181 (GRCm39) |
I370T |
possibly damaging |
Het |
| Hnrnpm |
C |
A |
17: 33,868,876 (GRCm39) |
R517L |
probably damaging |
Het |
| Jag2 |
G |
T |
12: 112,884,026 (GRCm39) |
S184R |
possibly damaging |
Het |
| Kctd16 |
A |
G |
18: 40,391,853 (GRCm39) |
D147G |
probably benign |
Het |
| Kiss1r |
T |
C |
10: 79,757,834 (GRCm39) |
L396P |
probably damaging |
Het |
| Krt86 |
C |
T |
15: 101,371,741 (GRCm39) |
H104Y |
probably benign |
Het |
| Lrrc66 |
G |
T |
5: 73,765,741 (GRCm39) |
T434K |
possibly damaging |
Het |
| Mcm5 |
A |
T |
8: 75,836,740 (GRCm39) |
N64Y |
possibly damaging |
Het |
| Mroh2b |
A |
T |
15: 4,932,536 (GRCm39) |
Y54F |
probably damaging |
Het |
| Or10al6 |
T |
A |
17: 38,083,505 (GRCm39) |
N329K |
probably benign |
Het |
| Or7g18 |
T |
A |
9: 18,787,369 (GRCm39) |
S249T |
probably benign |
Het |
| Osgep |
T |
A |
14: 51,153,619 (GRCm39) |
I320F |
probably benign |
Het |
| Pcdh18 |
T |
A |
3: 49,710,838 (GRCm39) |
D159V |
probably damaging |
Het |
| Phf20l1 |
G |
A |
15: 66,513,757 (GRCm39) |
V978I |
probably damaging |
Het |
| Phospho1 |
T |
A |
11: 95,721,909 (GRCm39) |
V193E |
probably damaging |
Het |
| Pip4k2b |
T |
C |
11: 97,635,331 (GRCm39) |
K34E |
probably damaging |
Het |
| Plb1 |
T |
C |
5: 32,455,858 (GRCm39) |
|
probably benign |
Het |
| Safb2 |
A |
G |
17: 56,885,639 (GRCm39) |
|
probably null |
Het |
| Sgsh |
T |
A |
11: 119,237,311 (GRCm39) |
E434D |
probably benign |
Het |
| Tkt |
C |
T |
14: 30,291,052 (GRCm39) |
H355Y |
probably damaging |
Het |
| Tmem128 |
A |
G |
5: 38,419,389 (GRCm39) |
N47S |
probably damaging |
Het |
| Tmem232 |
A |
G |
17: 65,807,148 (GRCm39) |
I15T |
probably damaging |
Het |
| Tns1 |
A |
C |
1: 73,964,128 (GRCm39) |
V1501G |
probably damaging |
Het |
| Vmn2r24 |
G |
A |
6: 123,792,596 (GRCm39) |
C641Y |
probably damaging |
Het |
| Vmn2r77 |
A |
G |
7: 86,449,975 (GRCm39) |
T74A |
probably benign |
Het |
| Zfp820 |
T |
C |
17: 22,038,860 (GRCm39) |
Y156C |
probably damaging |
Het |
|
| Other mutations in Macroh2a1 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
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 |
|
IGL02994:Macroh2a1
|
APN |
13 |
56,252,112 (GRCm39) |
splice site |
probably benign |
|
|
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 |
2013-04-17 |
Incidental Mutation