Incidental Mutation 'R0050:H1f8'
ID |
64256 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H1f8
|
Ensembl Gene |
ENSMUSG00000042279 |
Gene Name |
H1.8 linker histone |
Synonyms |
H1foo, H1-8, H1oo |
MMRRC Submission |
038344-MU
|
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R0050 (G1)
|
Quality Score |
174 |
Status
|
Validated
|
Chromosome |
6 |
Chromosomal Location |
115921899-115927197 bp(+) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
G to T
at 115924729 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Asparagine
at position 78
(K78N)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000123797
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037831]
[ENSMUST00000161617]
[ENSMUST00000161969]
[ENSMUST00000162084]
[ENSMUST00000205177]
|
AlphaFold |
Q8VIK3 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000037831
AA Change: K78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000036951 Gene: ENSMUSG00000042279 AA Change: K78N
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
H15
|
43 |
110 |
8.84e-11 |
SMART |
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
low complexity region
|
182 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161617
AA Change: K78N
PolyPhen 2
Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
|
SMART Domains |
Protein: ENSMUSP00000125701 Gene: ENSMUSG00000042279 AA Change: K78N
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
H15
|
43 |
110 |
8.84e-11 |
SMART |
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
low complexity region
|
182 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably damaging
Transcript: ENSMUST00000161969
AA Change: K78N
PolyPhen 2
Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
|
SMART Domains |
Protein: ENSMUSP00000123797 Gene: ENSMUSG00000042279 AA Change: K78N
Domain | Start | End | E-Value | Type |
low complexity region
|
4 |
24 |
N/A |
INTRINSIC |
H15
|
43 |
110 |
8.84e-11 |
SMART |
low complexity region
|
123 |
146 |
N/A |
INTRINSIC |
low complexity region
|
182 |
197 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000162084
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000205177
|
SMART Domains |
Protein: ENSMUSP00000144958 Gene: ENSMUSG00000042279
Domain | Start | End | E-Value | Type |
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
Meta Mutation Damage Score |
0.1230 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.8%
- 10x: 97.6%
- 20x: 95.6%
|
Validation Efficiency |
98% (54/55) |
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. The protein encoded is a replication-independent histone that is a member of the histone H1 family. This gene contains introns, unlike most histone genes and the encoded protein is expressed only in oocytes. [provided by RefSeq, Oct 2015] PHENOTYPE: Mice homozygous for a targeted mutation exhibit no detectable abnormalities. Oocytes develop normally and no defects in fertility or litter sizes are observed. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 28 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Abca9 |
C |
T |
11: 110,036,417 (GRCm39) |
C564Y |
probably damaging |
Het |
Adamts2 |
T |
C |
11: 50,666,222 (GRCm39) |
V406A |
probably damaging |
Het |
Ankar |
T |
A |
1: 72,695,323 (GRCm39) |
E1093D |
probably damaging |
Het |
Arhgef38 |
C |
A |
3: 132,837,957 (GRCm39) |
D75Y |
probably damaging |
Het |
Atg4b |
T |
A |
1: 93,715,440 (GRCm39) |
|
probably benign |
Het |
Cadm2 |
A |
G |
16: 66,750,154 (GRCm39) |
|
probably benign |
Het |
Ces2c |
T |
A |
8: 105,574,831 (GRCm39) |
M96K |
probably benign |
Het |
Dmrt3 |
C |
A |
19: 25,599,953 (GRCm39) |
P266H |
probably damaging |
Het |
Dock9 |
A |
G |
14: 121,844,637 (GRCm39) |
V1124A |
probably benign |
Het |
Edem1 |
T |
C |
6: 108,805,809 (GRCm39) |
F37L |
possibly damaging |
Het |
Ermp1 |
C |
A |
19: 29,606,184 (GRCm39) |
A190S |
probably damaging |
Het |
Gm10267 |
T |
A |
18: 44,289,520 (GRCm39) |
|
probably benign |
Het |
Golga2 |
T |
A |
2: 32,182,139 (GRCm39) |
V29D |
probably damaging |
Het |
Gprc6a |
T |
A |
10: 51,491,485 (GRCm39) |
M755L |
probably damaging |
Het |
Lama3 |
T |
A |
18: 12,537,160 (GRCm39) |
H268Q |
probably damaging |
Het |
Lrriq1 |
A |
G |
10: 102,904,792 (GRCm39) |
V1614A |
probably damaging |
Het |
Oaz2 |
A |
G |
9: 65,595,084 (GRCm39) |
E61G |
probably damaging |
Het |
Pear1 |
G |
T |
3: 87,663,294 (GRCm39) |
Y441* |
probably null |
Het |
Pkhd1l1 |
A |
T |
15: 44,437,203 (GRCm39) |
T3493S |
possibly damaging |
Het |
Plekhg5 |
T |
C |
4: 152,192,545 (GRCm39) |
|
probably null |
Het |
Ppp3cb |
A |
G |
14: 20,581,820 (GRCm39) |
V65A |
possibly damaging |
Het |
Rheb |
A |
T |
5: 25,022,832 (GRCm39) |
|
probably benign |
Het |
Ros1 |
G |
A |
10: 51,977,899 (GRCm39) |
T1449M |
probably damaging |
Het |
Septin4 |
T |
C |
11: 87,458,172 (GRCm39) |
L182S |
probably damaging |
Het |
Slc6a12 |
T |
C |
6: 121,337,378 (GRCm39) |
|
probably benign |
Het |
Stx2 |
A |
G |
5: 129,076,572 (GRCm39) |
|
probably null |
Het |
Tnxb |
T |
A |
17: 34,892,299 (GRCm39) |
D764E |
probably damaging |
Het |
Trmt2a |
A |
T |
16: 18,068,707 (GRCm39) |
E234D |
probably damaging |
Het |
|
Other mutations in H1f8 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00334:H1f8
|
APN |
6 |
115,924,588 (GRCm39) |
unclassified |
probably benign |
|
IGL00864:H1f8
|
APN |
6 |
115,925,587 (GRCm39) |
missense |
probably damaging |
0.99 |
R0050:H1f8
|
UTSW |
6 |
115,924,729 (GRCm39) |
missense |
probably damaging |
1.00 |
R0056:H1f8
|
UTSW |
6 |
115,923,934 (GRCm39) |
unclassified |
probably benign |
|
R0081:H1f8
|
UTSW |
6 |
115,926,942 (GRCm39) |
missense |
probably benign |
|
R0559:H1f8
|
UTSW |
6 |
115,924,760 (GRCm39) |
missense |
probably damaging |
1.00 |
R1302:H1f8
|
UTSW |
6 |
115,924,610 (GRCm39) |
nonsense |
probably null |
|
R1476:H1f8
|
UTSW |
6 |
115,924,701 (GRCm39) |
missense |
possibly damaging |
0.61 |
R1824:H1f8
|
UTSW |
6 |
115,925,719 (GRCm39) |
missense |
probably null |
0.97 |
R3778:H1f8
|
UTSW |
6 |
115,926,708 (GRCm39) |
critical splice donor site |
probably null |
|
R3928:H1f8
|
UTSW |
6 |
115,925,757 (GRCm39) |
missense |
probably benign |
0.12 |
R3929:H1f8
|
UTSW |
6 |
115,925,757 (GRCm39) |
missense |
probably benign |
0.12 |
R6316:H1f8
|
UTSW |
6 |
115,925,876 (GRCm39) |
critical splice donor site |
probably null |
|
R8356:H1f8
|
UTSW |
6 |
115,925,745 (GRCm39) |
missense |
probably benign |
|
R8456:H1f8
|
UTSW |
6 |
115,925,745 (GRCm39) |
missense |
probably benign |
|
R8869:H1f8
|
UTSW |
6 |
115,926,911 (GRCm39) |
missense |
probably benign |
0.00 |
R9628:H1f8
|
UTSW |
6 |
115,924,700 (GRCm39) |
missense |
probably damaging |
0.98 |
|
Predicted Primers |
PCR Primer
(F):5'- CTTGCAGCCTAGCAGCTAGTGATG -3'
(R):5'- AGCAGCGTGTACTAAGGGTCTGAG -3'
Sequencing Primer
(F):5'- TGCTCTGCCCCACCAAAG -3'
(R):5'- GGCCTCCCCCTCCTTCTC -3'
|
Posted On |
2013-08-06 |