Incidental Mutation 'R5550:H2bc27'
| ID |
435091 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2bc27
|
| Ensembl Gene |
ENSMUSG00000056895 |
| Gene Name |
H2B clustered histone 27 |
| Synonyms |
H2bu2, Hist3h2ba, 1500011O09Rik |
| MMRRC Submission |
043107-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R5550 (G1)
|
| Quality Score |
169 |
|
Status
|
Not validated
|
| Chromosome |
11 |
| Chromosomal Location |
58839737-58840198 bp(+) (GRCm39) |
| Type of Mutation |
makesense |
| DNA Base Change (assembly) |
A to G
at 58840146 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Stop codon to Tryptophan
at position 127
(*127W)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000076397
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000078267]
|
| AlphaFold |
Q9D2U9 |
| PDB Structure |
Crystal structure of the nucleosome core particle containing the histone domain of macroH2A [X-RAY DIFFRACTION]
2.9 Angstrom X-ray structure of hybrid macroH2A nucleosomes [X-RAY DIFFRACTION]
|
| Predicted Effect |
probably null
Transcript: ENSMUST00000078267
AA Change: *127W
|
| SMART Domains |
Protein: ENSMUSP00000076397
Gene: ENSMUSG00000056895
AA Change: *127W
| Domain | Start | End | E-Value | Type |
|---|
|
H2B
|
28 |
124 |
4.33e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000117558
|
| Coding Region Coverage |
- 1x: 99.9%
- 3x: 99.7%
- 10x: 98.4%
- 20x: 95.3%
|
| 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 is intronless and encodes a replication-dependent histone that is a member of the histone H2B family. [provided by RefSeq, Sep 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 29 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Aatk |
T |
C |
11: 119,900,129 (GRCm39) |
I1295M |
probably benign |
Het |
| Adgrb2 |
G |
T |
4: 129,908,727 (GRCm39) |
|
probably null |
Het |
| Adig |
A |
T |
2: 158,349,880 (GRCm39) |
|
probably benign |
Het |
| Atp5po |
C |
A |
16: 91,727,292 (GRCm39) |
V15F |
probably damaging |
Het |
| Bdh2 |
A |
G |
3: 134,994,074 (GRCm39) |
K52R |
probably benign |
Het |
| Bud23 |
A |
G |
5: 135,092,744 (GRCm39) |
V27A |
probably benign |
Het |
| Ces2b |
A |
G |
8: 105,565,069 (GRCm39) |
D551G |
probably benign |
Het |
| Csmd3 |
G |
C |
15: 48,048,753 (GRCm39) |
S446C |
probably damaging |
Het |
| Dio3 |
A |
T |
12: 110,246,560 (GRCm39) |
T299S |
probably benign |
Het |
| Dnah1 |
T |
A |
14: 31,038,665 (GRCm39) |
I139F |
probably benign |
Het |
| Dpy30 |
A |
G |
17: 74,622,920 (GRCm39) |
Y21H |
probably benign |
Het |
| Gbp4 |
C |
T |
5: 105,269,911 (GRCm39) |
V306M |
probably damaging |
Het |
| Gcat |
G |
A |
15: 78,926,411 (GRCm39) |
V94M |
probably benign |
Het |
| Henmt1 |
A |
G |
3: 108,861,184 (GRCm39) |
Y69C |
probably damaging |
Het |
| Kank4 |
A |
G |
4: 98,659,678 (GRCm39) |
F800S |
probably benign |
Het |
| Lrrc37a |
T |
A |
11: 103,389,003 (GRCm39) |
T2141S |
unknown |
Het |
| Map3k4 |
G |
A |
17: 12,462,445 (GRCm39) |
R1143* |
probably null |
Het |
| Mdc1 |
A |
G |
17: 36,156,776 (GRCm39) |
D61G |
possibly damaging |
Het |
| Nfkbid |
T |
A |
7: 30,125,426 (GRCm39) |
L303Q |
probably damaging |
Het |
| Or2ag15 |
T |
C |
7: 106,340,340 (GRCm39) |
N267S |
probably benign |
Het |
| Or6c75 |
A |
G |
10: 129,337,652 (GRCm39) |
N300D |
probably damaging |
Het |
| P2ry1 |
T |
C |
3: 60,911,232 (GRCm39) |
C124R |
probably damaging |
Het |
| Sntg1 |
C |
T |
1: 8,695,008 (GRCm39) |
C153Y |
probably damaging |
Het |
| Speg |
A |
T |
1: 75,405,744 (GRCm39) |
T2983S |
probably damaging |
Het |
| Tbc1d2 |
G |
A |
4: 46,646,138 (GRCm39) |
P163S |
probably benign |
Het |
| Tdpoz4 |
A |
T |
3: 93,704,806 (GRCm39) |
T368S |
probably benign |
Het |
| Tnks2 |
T |
A |
19: 36,839,746 (GRCm39) |
V78E |
probably damaging |
Het |
| Trip12 |
A |
G |
1: 84,738,820 (GRCm39) |
C709R |
probably damaging |
Het |
| Xpo5 |
T |
A |
17: 46,545,418 (GRCm39) |
V828D |
possibly damaging |
Het |
|
| Other mutations in H2bc27 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL02832:H2bc27
|
APN |
11 |
58,839,869 (GRCm39) |
missense |
probably benign |
0.06 |
|
R1848:H2bc27
|
UTSW |
11 |
58,839,928 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R3083:H2bc27
|
UTSW |
11 |
58,839,802 (GRCm39) |
missense |
probably benign |
0.01 |
|
R4193:H2bc27
|
UTSW |
11 |
58,840,067 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4657:H2bc27
|
UTSW |
11 |
58,839,797 (GRCm39) |
missense |
probably benign |
0.09 |
|
R5777:H2bc27
|
UTSW |
11 |
58,839,835 (GRCm39) |
missense |
probably benign |
0.00 |
|
R7671:H2bc27
|
UTSW |
11 |
58,840,102 (GRCm39) |
missense |
possibly damaging |
0.70 |
|
R8827:H2bc27
|
UTSW |
11 |
58,839,917 (GRCm39) |
missense |
probably benign |
0.32 |
|
X0019:H2bc27
|
UTSW |
11 |
58,839,881 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
| Predicted Primers |
PCR Primer
(F):5'- CGTCAATGACATCTTCGAGC -3'
(R):5'- TCTCTGTGGCCAAAATTGAACC -3'
Sequencing Primer
(F):5'- GTCAATGACATCTTCGAGCGCATC -3'
(R):5'- CCCATCCCAATGTTCATCAA -3'
|
| Posted On |
2016-10-24 |
Incidental Mutation