Incidental Mutation 'IGL00551:H1f2'
| ID |
28806 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H1f2
|
| Ensembl Gene |
ENSMUSG00000036181 |
| Gene Name |
H1.2 linker histone, cluster member |
| Synonyms |
H1f2, H1c, H1var1, H1.2, Hist1h1c, 0610008C09Rik |
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
IGL00551
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
13 |
| Chromosomal Location |
23922790-23923514 bp(+) (GRCm39) |
| Type of Mutation |
utr 5 prime |
| DNA Base Change (assembly) |
C to A
at 23922828 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000045816
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000040914]
|
| AlphaFold |
P15864 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000040914
|
| SMART Domains |
Protein: ENSMUSP00000045816
Gene: ENSMUSG00000036181
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
3 |
29 |
N/A |
INTRINSIC |
|
H15
|
34 |
99 |
2.8e-22 |
SMART |
|
low complexity region
|
116 |
212 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| Validation Efficiency |
|
| MGI Phenotype |
FUNCTION: Histones are basic nuclear proteins responsible for 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 is intronless and encodes a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Feb 2014]
PHENOTYPE: Homozygotes for targeted null mutations are normal, but Hist1h1c/Hist1h1e double knockout males are significantly smaller than normal. The Hist1h1c/Hist1h1e/Hist1h1d triple knockout is lethal by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 24 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Art2b |
C |
T |
7: 101,229,776 (GRCm39) |
C41Y |
probably damaging |
Het |
| Btk |
A |
G |
X: 133,474,683 (GRCm39) |
Y42H |
probably damaging |
Het |
| Cacna1e |
T |
C |
1: 154,279,429 (GRCm39) |
D1720G |
probably damaging |
Het |
| Ccr5 |
T |
C |
9: 123,924,625 (GRCm39) |
I76T |
probably damaging |
Het |
| Chd3 |
A |
G |
11: 69,237,455 (GRCm39) |
V1913A |
probably damaging |
Het |
| Dmxl2 |
A |
G |
9: 54,358,122 (GRCm39) |
Y526H |
probably damaging |
Het |
| Dnah8 |
A |
T |
17: 30,882,452 (GRCm39) |
K675* |
probably null |
Het |
| Eif2b1 |
A |
G |
5: 124,714,932 (GRCm39) |
F115L |
probably damaging |
Het |
| Erlin1 |
T |
C |
19: 44,047,585 (GRCm39) |
D112G |
probably damaging |
Het |
| Fabp12 |
A |
G |
3: 10,311,115 (GRCm39) |
|
probably benign |
Het |
| Fam47c |
A |
G |
X: 77,782,060 (GRCm39) |
E214G |
probably damaging |
Het |
| Fkbp5 |
G |
T |
17: 28,620,020 (GRCm39) |
|
probably benign |
Het |
| Kidins220 |
G |
T |
12: 25,088,559 (GRCm39) |
|
probably benign |
Het |
| Limd2 |
T |
C |
11: 106,050,031 (GRCm39) |
E15G |
probably benign |
Het |
| Mga |
T |
A |
2: 119,750,295 (GRCm39) |
C696S |
possibly damaging |
Het |
| Naa16 |
A |
G |
14: 79,593,169 (GRCm39) |
F468L |
probably damaging |
Het |
| Ndufaf1 |
A |
G |
2: 119,490,950 (GRCm39) |
S37P |
probably damaging |
Het |
| Phrf1 |
A |
G |
7: 140,838,790 (GRCm39) |
|
probably benign |
Het |
| Prr14 |
A |
G |
7: 127,073,819 (GRCm39) |
T228A |
probably benign |
Het |
| Rfc1 |
A |
T |
5: 65,453,352 (GRCm39) |
F265L |
probably benign |
Het |
| Selenos |
A |
G |
7: 65,736,942 (GRCm39) |
E137G |
probably benign |
Het |
| Tars1 |
T |
C |
15: 11,388,307 (GRCm39) |
|
probably null |
Het |
| Tpcn1 |
A |
G |
5: 120,698,390 (GRCm39) |
I44T |
probably benign |
Het |
| Usp26 |
A |
G |
X: 50,846,182 (GRCm39) |
V31A |
probably benign |
Het |
|
| Other mutations in H1f2 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
R0234:H1f2
|
UTSW |
13 |
23,923,106 (GRCm39) |
missense |
probably benign |
0.03 |
|
R0234:H1f2
|
UTSW |
13 |
23,923,106 (GRCm39) |
missense |
probably benign |
0.03 |
|
R1954:H1f2
|
UTSW |
13 |
23,923,385 (GRCm39) |
missense |
unknown |
|
|
R2008:H1f2
|
UTSW |
13 |
23,923,392 (GRCm39) |
missense |
probably benign |
0.23 |
|
R2281:H1f2
|
UTSW |
13 |
23,922,907 (GRCm39) |
missense |
probably benign |
0.23 |
|
R3106:H1f2
|
UTSW |
13 |
23,922,883 (GRCm39) |
missense |
unknown |
|
|
R5560:H1f2
|
UTSW |
13 |
23,923,390 (GRCm39) |
missense |
probably benign |
0.23 |
|
R5688:H1f2
|
UTSW |
13 |
23,923,148 (GRCm39) |
missense |
probably damaging |
0.96 |
|
R9154:H1f2
|
UTSW |
13 |
23,923,373 (GRCm39) |
missense |
unknown |
|
|
Z1177:H1f2
|
UTSW |
13 |
23,923,202 (GRCm39) |
missense |
unknown |
|
|
| Posted On |
2013-04-17 |
Incidental Mutation