Incidental Mutation 'R3929:H1f8'
| ID |
308630 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H1f8
|
| Ensembl Gene |
ENSMUSG00000042279 |
| Gene Name |
H1.8 linker histone |
| Synonyms |
H1foo, H1-8, H1oo |
| MMRRC Submission |
040824-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R3929 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
6 |
| Chromosomal Location |
115921899-115927197 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 115925757 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Glutamic Acid
at position 185
(K185E)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000123797
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000037831]
[ENSMUST00000161617]
[ENSMUST00000161969]
[ENSMUST00000162084]
[ENSMUST00000205177]
|
| AlphaFold |
Q8VIK3 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000037831
AA Change: K185E
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000036951
Gene: ENSMUSG00000042279
AA Change: K185E
| 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: ENSMUST00000161617
AA Change: K185E
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000125701
Gene: ENSMUSG00000042279
AA Change: K185E
| 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: ENSMUST00000161969
AA Change: K185E
PolyPhen 2
Score 0.119 (Sensitivity: 0.93; Specificity: 0.86)
|
| SMART Domains |
Protein: ENSMUSP00000123797
Gene: ENSMUSG00000042279
AA Change: K185E
| 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
AA Change: K14E
PolyPhen 2
Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
|
| SMART Domains |
Protein: ENSMUSP00000144958
Gene: ENSMUSG00000042279
AA Change: K14E
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
11 |
26 |
N/A |
INTRINSIC |
|
| Meta Mutation Damage Score |
0.0898 |
| Coding Region Coverage |
- 1x: 99.4%
- 3x: 98.8%
- 10x: 97.5%
- 20x: 95.5%
|
| 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. 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: 33 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ak5 |
A |
C |
3: 152,373,444 (GRCm39) |
L18R |
probably damaging |
Het |
| Atrx |
T |
C |
X: 104,923,523 (GRCm39) |
I157V |
possibly damaging |
Het |
| C9 |
T |
A |
15: 6,496,939 (GRCm39) |
I212N |
probably benign |
Het |
| Cabin1 |
T |
C |
10: 75,587,452 (GRCm39) |
|
probably null |
Het |
| Ccnf |
A |
G |
17: 24,453,356 (GRCm39) |
V361A |
probably damaging |
Het |
| Ctps1 |
T |
A |
4: 120,399,093 (GRCm39) |
H553L |
probably benign |
Het |
| Dmrta1 |
C |
T |
4: 89,579,681 (GRCm39) |
Q214* |
probably null |
Het |
| E230025N22Rik |
T |
C |
18: 36,824,625 (GRCm39) |
D112G |
probably damaging |
Het |
| Frat1 |
T |
C |
19: 41,819,087 (GRCm39) |
C161R |
probably damaging |
Het |
| Itpr2 |
C |
A |
6: 146,275,857 (GRCm39) |
|
probably null |
Het |
| Klhl40 |
A |
G |
9: 121,609,742 (GRCm39) |
D509G |
probably benign |
Het |
| Muc5ac |
T |
C |
7: 141,356,629 (GRCm39) |
V1072A |
probably benign |
Het |
| Nav3 |
A |
G |
10: 109,520,064 (GRCm39) |
Y2340H |
probably damaging |
Het |
| Or10ak9 |
T |
C |
4: 118,726,179 (GRCm39) |
L66P |
probably damaging |
Het |
| Or2y17 |
A |
T |
11: 49,231,820 (GRCm39) |
M154L |
probably benign |
Het |
| Or51a43 |
C |
T |
7: 103,717,791 (GRCm39) |
C149Y |
probably benign |
Het |
| Or5be3 |
T |
A |
2: 86,864,428 (GRCm39) |
I46F |
possibly damaging |
Het |
| Or6c2 |
G |
A |
10: 129,362,100 (GRCm39) |
M1I |
probably null |
Het |
| Prdm10 |
T |
C |
9: 31,258,432 (GRCm39) |
I619T |
probably damaging |
Het |
| Rp1 |
T |
C |
1: 4,422,868 (GRCm39) |
T71A |
probably damaging |
Het |
| Rpusd4 |
A |
G |
9: 35,183,876 (GRCm39) |
I202V |
probably benign |
Het |
| Sin3a |
A |
G |
9: 57,025,421 (GRCm39) |
N1089S |
probably damaging |
Het |
| St6gal2 |
A |
G |
17: 55,803,324 (GRCm39) |
D353G |
possibly damaging |
Het |
| Stap2 |
A |
C |
17: 56,310,156 (GRCm39) |
F50V |
probably damaging |
Het |
| Stkld1 |
T |
A |
2: 26,830,059 (GRCm39) |
|
probably null |
Het |
| Tars3 |
A |
G |
7: 65,333,791 (GRCm39) |
|
probably null |
Het |
| Tbl1xr1 |
G |
C |
3: 22,243,932 (GRCm39) |
D69H |
probably damaging |
Het |
| Tnrc6c |
C |
T |
11: 117,614,355 (GRCm39) |
R838W |
probably damaging |
Het |
| Trim61 |
A |
G |
8: 65,465,969 (GRCm39) |
F431L |
probably benign |
Het |
| Trmo |
C |
T |
4: 46,382,647 (GRCm39) |
G150S |
probably damaging |
Het |
| Vmn1r61 |
A |
G |
7: 5,614,176 (GRCm39) |
I46T |
probably benign |
Het |
| Vmn2r19 |
T |
C |
6: 123,292,587 (GRCm39) |
Y210H |
probably benign |
Het |
| Xrn1 |
T |
C |
9: 95,870,926 (GRCm39) |
S584P |
possibly 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 |
|
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 |
|
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'- TAGCTAGTTCCAAAGCCCAAG -3'
(R):5'- CACTTCCTACGGAGGGAAAC -3'
Sequencing Primer
(F):5'- GACAAAGAAAGCCTGTGCC -3'
(R):5'- GGAAACCCCTTCTATCCTGC -3'
|
| Posted On |
2015-04-17 |
Incidental Mutation