Incidental Mutation 'R0988:Macroh2a1'
| ID |
97421 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macroh2a1
|
| Ensembl Gene |
ENSMUSG00000015937 |
| Gene Name |
macroH2A.1 histone |
| Synonyms |
mH2a1, MACROH2A1.2, H2AF12M, H2afy |
| MMRRC Submission |
039108-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R0988 (G1)
|
| Quality Score |
225 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56221435-56283439 bp(-) (GRCm39) |
| Type of Mutation |
critical splice acceptor site |
| DNA Base Change (assembly) |
T to C
at 56231109 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016081]
[ENSMUST00000016081]
[ENSMUST00000045788]
[ENSMUST00000045788]
|
| AlphaFold |
Q9QZQ8 |
| Predicted Effect |
probably null
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 null
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 null
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 |
probably null
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: ENSMUST00000137835
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000141589
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000225993
|
| Meta Mutation Damage Score |
0.9754 |
| Coding Region Coverage |
- 1x: 99.2%
- 3x: 98.5%
- 10x: 96.7%
- 20x: 94.0%
|
| Validation Efficiency |
97% (34/35) |
| 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: 34 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Abcb5 |
T |
C |
12: 118,896,310 (GRCm39) |
I340V |
probably benign |
Het |
| Ano1 |
T |
G |
7: 144,187,390 (GRCm39) |
S459R |
possibly damaging |
Het |
| Cop1 |
T |
C |
1: 159,060,417 (GRCm39) |
V67A |
possibly damaging |
Het |
| Cop1 |
A |
G |
1: 159,072,242 (GRCm39) |
Y186C |
probably damaging |
Het |
| Cst11 |
G |
A |
2: 148,612,346 (GRCm39) |
T97I |
probably benign |
Het |
| Ephb2 |
T |
A |
4: 136,387,019 (GRCm39) |
Y736F |
possibly damaging |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Hmcn2 |
T |
C |
2: 31,225,463 (GRCm39) |
I124T |
probably damaging |
Het |
| Hpn |
T |
C |
7: 30,799,323 (GRCm39) |
Y271C |
possibly damaging |
Het |
| Kmt2a |
A |
G |
9: 44,759,846 (GRCm39) |
S668P |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,362 (GRCm39) |
C94* |
probably null |
Het |
| Lgmn |
T |
C |
12: 102,364,536 (GRCm39) |
D311G |
probably damaging |
Het |
| Mfsd14b |
T |
C |
13: 65,260,307 (GRCm39) |
|
probably benign |
Het |
| Micu1 |
C |
A |
10: 59,592,549 (GRCm39) |
|
probably benign |
Het |
| Muc5b |
A |
G |
7: 141,425,532 (GRCm39) |
I4726V |
probably benign |
Het |
| Nadk2 |
T |
A |
15: 9,103,080 (GRCm39) |
N310K |
probably damaging |
Het |
| Napg |
T |
C |
18: 63,116,431 (GRCm39) |
|
probably benign |
Het |
| Nav3 |
G |
A |
10: 109,552,389 (GRCm39) |
R1818W |
probably damaging |
Het |
| Ntpcr |
T |
C |
8: 126,464,170 (GRCm39) |
|
probably benign |
Het |
| Or1j13 |
T |
C |
2: 36,369,779 (GRCm39) |
D121G |
probably damaging |
Het |
| Or51af1 |
T |
A |
7: 103,141,954 (GRCm39) |
I44F |
probably damaging |
Het |
| Or5b99 |
A |
G |
19: 12,977,151 (GRCm39) |
D267G |
probably benign |
Het |
| Or6c214 |
A |
G |
10: 129,590,866 (GRCm39) |
V151A |
probably benign |
Het |
| Pdia2 |
A |
G |
17: 26,417,803 (GRCm39) |
F69L |
probably damaging |
Het |
| Pik3r4 |
A |
G |
9: 105,564,404 (GRCm39) |
T1333A |
probably damaging |
Het |
| Platr26 |
A |
T |
2: 71,553,631 (GRCm39) |
|
noncoding transcript |
Het |
| Proc |
T |
C |
18: 32,266,536 (GRCm39) |
D97G |
probably benign |
Het |
| Ptpn23 |
C |
T |
9: 110,217,845 (GRCm39) |
R700H |
probably benign |
Het |
| Rragc |
T |
A |
4: 123,818,575 (GRCm39) |
|
probably null |
Het |
| Serac1 |
A |
T |
17: 6,111,855 (GRCm39) |
F244I |
probably benign |
Het |
| Snrpd3 |
A |
G |
10: 75,368,039 (GRCm39) |
D52G |
probably damaging |
Het |
| Thrb |
G |
T |
14: 17,981,837 (GRCm38) |
|
probably benign |
Het |
| Ttc6 |
T |
C |
12: 57,735,435 (GRCm39) |
|
probably benign |
Het |
| Zfp607b |
T |
A |
7: 27,402,401 (GRCm39) |
C286S |
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 |
|
IGL02994:Macroh2a1
|
APN |
13 |
56,252,112 (GRCm39) |
splice site |
probably benign |
|
|
R0270:Macroh2a1
|
UTSW |
13 |
56,243,927 (GRCm39) |
splice site |
probably benign |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGAAGGCGATGGATTTCAGC -3'
(R):5'- TGTGACCAGTGTGTAGGGCATCAG -3'
Sequencing Primer
(F):5'- ATGGATTTCAGCTTTCTGTCATCAG -3'
(R):5'- ACTGACCAGCATTCAGTGG -3'
|
| Posted On |
2014-01-05 |
Incidental Mutation