Incidental Mutation 'R0976:H2bc18'
| ID |
81143 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H2bc18
|
| Ensembl Gene |
ENSMUSG00000105827 |
| Gene Name |
H2B clustered histone 18 |
| Synonyms |
H2b-616, Hist2h2bb |
| MMRRC Submission |
039105-MU
|
| Accession Numbers |
|
| Essential gene? |
Possibly essential
(E-score: 0.518)
|
| Stock # |
R0976 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
3 |
| Chromosomal Location |
96177068-96177448 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to A
at 96177402 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Valine to Glutamic Acid
at position 112
(V112E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000135427
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000098843]
[ENSMUST00000177113]
|
| AlphaFold |
Q64525 |
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000051089
|
| SMART Domains |
Protein: ENSMUSP00000059105
Gene: ENSMUSG00000050936
| Domain | Start | End | E-Value | Type |
|---|
|
H2B
|
28 |
112 |
1.48e-15 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000098843
|
| SMART Domains |
Protein: ENSMUSP00000096442
Gene: ENSMUSG00000074403
| Domain | Start | End | E-Value | Type |
|---|
|
H3
|
34 |
136 |
2.12e-75 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000177113
AA Change: V112E
PolyPhen 2
Score 0.188 (Sensitivity: 0.92; Specificity: 0.87)
|
| SMART Domains |
Protein: ENSMUSP00000135427
Gene: ENSMUSG00000105827
AA Change: V112E
| Domain | Start | End | E-Value | Type |
|---|
|
H2B
|
28 |
124 |
1.43e-72 |
SMART |
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000177363
|
| Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000193036
|
| Coding Region Coverage |
- 1x: 99.8%
- 3x: 99.3%
- 10x: 97.6%
- 20x: 95.2%
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Histones are basic nuclear proteins that are responsible for the nucleosome structure of the chromosomal fiber in eukaryotes. Two molecules of each of the four core histones (H2A, H2B, H3, and H4) form an octamer, around which approximately 146 bp of DNA is wrapped in repeating units, called nucleosomes. The linker histone, H1, interacts with linker DNA between nucleosomes and functions in the compaction of chromatin into higher order structures. This gene encodes a replication-dependent histone that is a member of the histone H2B family. [provided by RefSeq, Aug 2015]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 37 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| 1700056E22Rik |
C |
T |
1: 183,765,702 (GRCm39) |
S119N |
probably benign |
Het |
| Arap2 |
T |
A |
5: 62,807,227 (GRCm39) |
I1147F |
probably damaging |
Het |
| Arl10 |
T |
C |
13: 54,723,621 (GRCm39) |
|
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,060 (GRCm39) |
E551G |
probably damaging |
Het |
| Ccr6 |
T |
A |
17: 8,475,254 (GRCm39) |
L153Q |
probably damaging |
Het |
| Cntnap2 |
C |
T |
6: 47,248,164 (GRCm39) |
P1190L |
probably damaging |
Het |
| Cul7 |
T |
A |
17: 46,974,116 (GRCm39) |
L1467H |
probably damaging |
Het |
| Cux1 |
T |
A |
5: 136,342,144 (GRCm39) |
D416V |
probably damaging |
Het |
| Cyp2c67 |
G |
T |
19: 39,631,818 (GRCm39) |
F126L |
probably damaging |
Het |
| Cyp3a57 |
A |
G |
5: 145,327,278 (GRCm39) |
I490V |
probably benign |
Het |
| Dsc1 |
T |
C |
18: 20,228,098 (GRCm39) |
|
probably null |
Het |
| Fam83f |
T |
A |
15: 80,576,285 (GRCm39) |
V312E |
probably damaging |
Het |
| Fsip2 |
A |
G |
2: 82,828,375 (GRCm39) |
D6724G |
possibly damaging |
Het |
| Gabrr3 |
G |
T |
16: 59,281,887 (GRCm39) |
C414F |
probably benign |
Het |
| Gm21738 |
T |
C |
14: 19,415,963 (GRCm38) |
K192R |
probably benign |
Het |
| Herc1 |
A |
T |
9: 66,347,160 (GRCm39) |
K2005M |
possibly damaging |
Het |
| Isyna1 |
C |
A |
8: 71,048,936 (GRCm39) |
N338K |
probably damaging |
Het |
| Kalrn |
T |
C |
16: 34,205,760 (GRCm39) |
D39G |
probably damaging |
Het |
| Mndal |
T |
A |
1: 173,690,411 (GRCm39) |
R306S |
possibly damaging |
Het |
| Nek2 |
A |
G |
1: 191,559,349 (GRCm39) |
R285G |
probably benign |
Het |
| Nrg2 |
A |
G |
18: 36,154,144 (GRCm39) |
I591T |
probably benign |
Het |
| Or8u8 |
A |
G |
2: 86,012,152 (GRCm39) |
L101S |
probably damaging |
Het |
| Pcdh10 |
T |
C |
3: 45,335,236 (GRCm39) |
S517P |
probably damaging |
Het |
| Pdcd2l |
G |
T |
7: 33,895,771 (GRCm39) |
D67E |
probably benign |
Het |
| Pex1 |
C |
A |
5: 3,683,943 (GRCm39) |
D1146E |
probably benign |
Het |
| Pid1 |
A |
T |
1: 84,136,946 (GRCm39) |
Y62N |
probably benign |
Het |
| Ppp4r1 |
T |
C |
17: 66,148,013 (GRCm39) |
*935R |
probably null |
Het |
| Stag1 |
T |
C |
9: 100,658,877 (GRCm39) |
F155L |
probably damaging |
Het |
| Stag1 |
G |
A |
9: 100,812,069 (GRCm39) |
|
probably null |
Het |
| Taok2 |
C |
T |
7: 126,474,323 (GRCm39) |
R302Q |
possibly damaging |
Het |
| Tbc1d8 |
A |
G |
1: 39,445,882 (GRCm39) |
V103A |
probably damaging |
Het |
| Terf2ip |
T |
A |
8: 112,738,349 (GRCm39) |
I79N |
probably damaging |
Het |
| Tgfb3 |
G |
A |
12: 86,116,606 (GRCm39) |
T144I |
probably damaging |
Het |
| Top1 |
A |
G |
2: 160,559,343 (GRCm39) |
N622S |
possibly damaging |
Het |
| Trappc9 |
T |
A |
15: 72,871,823 (GRCm39) |
Q489L |
probably damaging |
Het |
| Vmn2r69 |
T |
C |
7: 85,056,108 (GRCm39) |
T677A |
probably damaging |
Het |
| Wdr35 |
T |
C |
12: 9,036,104 (GRCm39) |
F292L |
probably benign |
Het |
|
| Other mutations in H2bc18 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01474:H2bc18
|
APN |
3 |
96,177,125 (GRCm39) |
unclassified |
probably benign |
|
|
R0357:H2bc18
|
UTSW |
3 |
96,177,104 (GRCm39) |
missense |
probably null |
0.04 |
|
R0882:H2bc18
|
UTSW |
3 |
96,177,060 (GRCm39) |
splice site |
probably null |
|
|
R1473:H2bc18
|
UTSW |
3 |
96,177,388 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R1507:H2bc18
|
UTSW |
3 |
96,177,189 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R4503:H2bc18
|
UTSW |
3 |
96,177,240 (GRCm39) |
missense |
possibly damaging |
0.84 |
|
R4751:H2bc18
|
UTSW |
3 |
96,176,467 (GRCm39) |
unclassified |
probably benign |
|
|
R4808:H2bc18
|
UTSW |
3 |
96,177,329 (GRCm39) |
missense |
probably benign |
0.00 |
|
R6118:H2bc18
|
UTSW |
3 |
96,177,267 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R6585:H2bc18
|
UTSW |
3 |
96,177,413 (GRCm39) |
missense |
probably benign |
0.17 |
|
R7527:H2bc18
|
UTSW |
3 |
96,177,186 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
R9093:H2bc18
|
UTSW |
3 |
96,177,290 (GRCm39) |
missense |
probably benign |
0.21 |
|
| Predicted Primers |
PCR Primer
(F):5'- AAGTCTGCTCCTGCCCCAAAGAAG -3'
(R):5'- TTTGAAACGCTCGATGTTGCACC -3'
Sequencing Primer
(F):5'- CGCAAGGAGAGCTATTCTGTTTAC -3'
(R):5'- TGCAGGGTAACAGACTCATC -3'
|
| Posted On |
2013-11-07 |
Incidental Mutation