Incidental Mutation 'R6165:Macroh2a1'
| ID |
490108 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
Macroh2a1
|
| Ensembl Gene |
ENSMUSG00000015937 |
| Gene Name |
macroH2A.1 histone |
| Synonyms |
mH2a1, MACROH2A1.2, H2AF12M, H2afy |
| MMRRC Submission |
044311-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6165 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Validated
|
| Chromosome |
13 |
| Chromosomal Location |
56221435-56283439 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to T
at 56252268 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Asparagine to Lysine
at position 108
(N108K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000038221
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000016081]
[ENSMUST00000045788]
|
| AlphaFold |
Q9QZQ8 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000016081
AA Change: N108K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000016081
Gene: ENSMUSG00000015937
AA Change: N108K
| 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 damaging
Transcript: ENSMUST00000045788
AA Change: N108K
PolyPhen 2
Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000038221
Gene: ENSMUSG00000015937
AA Change: N108K
| 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 |
- 1x: 99.9%
- 3x: 99.5%
- 10x: 97.9%
- 20x: 94.1%
|
| Validation Efficiency |
98% (47/48) |
| 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: 47 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ankrd35 |
A |
G |
3: 96,590,623 (GRCm39) |
E303G |
possibly damaging |
Het |
| Atosa |
A |
G |
9: 74,932,954 (GRCm39) |
T974A |
probably damaging |
Het |
| C2cd5 |
T |
C |
6: 142,995,954 (GRCm39) |
T389A |
possibly damaging |
Het |
| Catsperb |
T |
A |
12: 101,542,075 (GRCm39) |
Y592N |
possibly damaging |
Het |
| Cfap91 |
A |
G |
16: 38,154,173 (GRCm39) |
F124S |
possibly damaging |
Het |
| Cnot9 |
T |
C |
1: 74,567,952 (GRCm39) |
V280A |
probably benign |
Het |
| Cyld |
A |
G |
8: 89,473,561 (GRCm39) |
I927V |
possibly damaging |
Het |
| Etfdh |
A |
T |
3: 79,512,251 (GRCm39) |
S490T |
probably benign |
Het |
| Fance |
C |
T |
17: 28,545,068 (GRCm39) |
R150C |
probably benign |
Het |
| Far1 |
A |
G |
7: 113,153,425 (GRCm39) |
K353E |
probably benign |
Het |
| Fbn1 |
T |
C |
2: 125,174,283 (GRCm39) |
I1858V |
probably damaging |
Het |
| Frem1 |
T |
C |
4: 82,874,492 (GRCm39) |
K1359E |
probably benign |
Het |
| Ghdc |
T |
G |
11: 100,659,928 (GRCm39) |
E273A |
possibly damaging |
Het |
| Gpt |
A |
G |
15: 76,582,170 (GRCm39) |
D209G |
probably benign |
Het |
| Hspb7 |
T |
C |
4: 141,149,862 (GRCm39) |
F83L |
probably benign |
Het |
| Itga7 |
A |
G |
10: 128,778,804 (GRCm39) |
I306M |
probably benign |
Het |
| Itgb5 |
A |
G |
16: 33,719,612 (GRCm39) |
E261G |
probably benign |
Het |
| Kcnj14 |
G |
T |
7: 45,469,424 (GRCm39) |
A27E |
possibly damaging |
Het |
| Kif13b |
A |
G |
14: 64,979,760 (GRCm39) |
H470R |
probably damaging |
Het |
| Morc3 |
T |
C |
16: 93,638,271 (GRCm39) |
F18L |
probably damaging |
Het |
| Mrgprb8 |
T |
A |
7: 48,038,565 (GRCm39) |
C79S |
possibly damaging |
Het |
| Mroh2b |
T |
A |
15: 4,947,832 (GRCm39) |
M549K |
probably benign |
Het |
| Msl1 |
T |
C |
11: 98,695,673 (GRCm39) |
V563A |
probably damaging |
Het |
| Nwd1 |
C |
T |
8: 73,388,814 (GRCm39) |
R81W |
probably damaging |
Het |
| Or5b124 |
A |
T |
19: 13,610,507 (GRCm39) |
I11F |
possibly damaging |
Het |
| Or5b124 |
C |
T |
19: 13,610,952 (GRCm39) |
A159V |
probably benign |
Het |
| Phf2 |
C |
A |
13: 48,967,341 (GRCm39) |
|
probably null |
Het |
| Pjvk |
T |
G |
2: 76,480,562 (GRCm39) |
|
probably null |
Het |
| Rgl2 |
A |
G |
17: 34,150,739 (GRCm39) |
T66A |
probably benign |
Het |
| Rsf1 |
ATGGCG |
ATGGCGACGGTGGCG |
7: 97,229,111 (GRCm39) |
|
probably benign |
Het |
| Rtkn |
G |
T |
6: 83,122,944 (GRCm39) |
E67D |
probably damaging |
Het |
| Serpinb9 |
T |
A |
13: 33,192,807 (GRCm39) |
F121L |
possibly damaging |
Het |
| Slc34a1 |
G |
A |
13: 23,999,053 (GRCm39) |
V149I |
probably benign |
Het |
| Sobp |
A |
G |
10: 42,898,599 (GRCm39) |
S329P |
probably damaging |
Het |
| Syne1 |
A |
T |
10: 5,375,678 (GRCm39) |
L138Q |
probably damaging |
Het |
| Tfr2 |
T |
A |
5: 137,578,519 (GRCm39) |
V449D |
probably damaging |
Het |
| Tmem151b |
T |
C |
17: 45,856,711 (GRCm39) |
Y243C |
probably damaging |
Het |
| Trank1 |
T |
C |
9: 111,220,940 (GRCm39) |
V2559A |
probably benign |
Het |
| Trim35 |
T |
C |
14: 66,546,654 (GRCm39) |
Y474H |
probably damaging |
Het |
| Uso1 |
A |
T |
5: 92,335,126 (GRCm39) |
L495F |
probably damaging |
Het |
| Wdr24 |
A |
G |
17: 26,045,395 (GRCm39) |
I377V |
probably benign |
Het |
| Xpo5 |
T |
A |
17: 46,546,883 (GRCm39) |
V878D |
possibly damaging |
Het |
| Zfc3h1 |
A |
G |
10: 115,256,574 (GRCm39) |
I1515V |
probably benign |
Het |
| Zfp319 |
CA |
C |
8: 96,054,733 (GRCm39) |
489 |
probably null |
Het |
| Zfp384 |
T |
G |
6: 125,001,896 (GRCm39) |
|
probably null |
Het |
| Zfp704 |
G |
T |
3: 9,508,946 (GRCm39) |
P416T |
probably benign |
Het |
| Zfr |
C |
T |
15: 12,146,331 (GRCm39) |
A294V |
unknown |
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 |
|
|
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 |
|
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'- TGCCAGATCCCGTACCTTAGAC -3'
(R):5'- AATTCAGACCAAGTGAGGGC -3'
Sequencing Primer
(F):5'- CGTACCTTAGACTTCCGGGC -3'
(R):5'- ACTCGAGTCCCATGTGGTAG -3'
|
| Posted On |
2017-10-10 |
Incidental Mutation