Incidental Mutation 'IGL02697:H1f7'
| ID |
303979 |
| Institutional Source |
Australian Phenomics Network
(link to record)
|
| Gene Symbol |
H1f7
|
| Ensembl Gene |
ENSMUSG00000048077 |
| Gene Name |
H1.7 linker histone |
| Synonyms |
H1T2, 1700026P10Rik, H1-7, H1fnt |
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.224)
|
| Stock # |
IGL02697
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98153867-98155174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
T to C
at 98155050 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Lysine to Arginine
at position 33
(K33R)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060855]
|
| AlphaFold |
Q8CJI4 |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000060855
AA Change: K33R
PolyPhen 2
Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
|
| SMART Domains |
Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: K33R
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
134 |
245 |
N/A |
INTRINSIC |
|
low complexity region
|
253 |
276 |
N/A |
INTRINSIC |
|
| Coding Region Coverage |
|
| 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-independent histone that is a member of the histone H1 family. This gene encodes a testis specific protein that is required for spermatogenesis and male fertility. [provided by RefSeq, Oct 2015]
PHENOTYPE: Homozygous null male mice display reduced fertility with asthenozoospermia, oligozoospermia, and teratozoospermia. [provided by MGI curators]
|
| Allele List at MGI |
All alleles(2) : Targeted, knock-out(2) |
| Other mutations in this stock |
Total: 41 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Alg2 |
A |
T |
4: 47,471,772 (GRCm39) |
N345K |
probably damaging |
Het |
| Atp13a5 |
T |
A |
16: 29,167,350 (GRCm39) |
H151L |
probably benign |
Het |
| C2cd3 |
T |
C |
7: 100,076,376 (GRCm39) |
|
probably benign |
Het |
| Cep57l1 |
G |
T |
10: 41,598,950 (GRCm39) |
P212T |
possibly damaging |
Het |
| Coch |
G |
A |
12: 51,643,821 (GRCm39) |
A135T |
probably benign |
Het |
| Csgalnact1 |
C |
A |
8: 68,854,144 (GRCm39) |
G219V |
probably damaging |
Het |
| Cul5 |
A |
G |
9: 53,566,631 (GRCm39) |
S134P |
probably benign |
Het |
| Cyp4f14 |
T |
C |
17: 33,124,597 (GRCm39) |
T485A |
probably damaging |
Het |
| Dennd3 |
T |
C |
15: 73,396,085 (GRCm39) |
F198S |
possibly damaging |
Het |
| Dennd5a |
C |
A |
7: 109,493,988 (GRCm39) |
A1239S |
probably damaging |
Het |
| Dhx8 |
T |
C |
11: 101,645,607 (GRCm39) |
I822T |
probably damaging |
Het |
| Dnah5 |
A |
T |
15: 28,445,289 (GRCm39) |
M4142L |
probably benign |
Het |
| Dyrk4 |
T |
A |
6: 126,875,971 (GRCm39) |
N88I |
possibly damaging |
Het |
| Emc1 |
T |
C |
4: 139,079,955 (GRCm39) |
F9L |
probably benign |
Het |
| Gga1 |
A |
G |
15: 78,769,546 (GRCm39) |
E173G |
probably damaging |
Het |
| Hepacam2 |
A |
T |
6: 3,476,036 (GRCm39) |
H296Q |
possibly damaging |
Het |
| Ipo9 |
G |
T |
1: 135,318,314 (GRCm39) |
Q699K |
probably benign |
Het |
| Jmy |
A |
T |
13: 93,596,209 (GRCm39) |
Y473* |
probably null |
Het |
| Kdm5b |
A |
T |
1: 134,516,511 (GRCm39) |
|
probably benign |
Het |
| Kit |
A |
G |
5: 75,767,919 (GRCm39) |
S101G |
probably benign |
Het |
| Krtap4-9 |
T |
A |
11: 99,676,574 (GRCm39) |
V165E |
unknown |
Het |
| Lnpep |
T |
A |
17: 17,773,455 (GRCm39) |
M639L |
probably benign |
Het |
| Lrp10 |
C |
T |
14: 54,707,154 (GRCm39) |
P664S |
probably damaging |
Het |
| Nrde2 |
A |
T |
12: 100,097,466 (GRCm39) |
L778H |
probably damaging |
Het |
| Oat |
A |
T |
7: 132,171,684 (GRCm39) |
|
probably null |
Het |
| Pfkl |
A |
T |
10: 77,835,752 (GRCm39) |
S219T |
probably benign |
Het |
| Phtf1 |
C |
T |
3: 103,904,879 (GRCm39) |
A509V |
probably benign |
Het |
| Pigz |
T |
A |
16: 31,763,577 (GRCm39) |
|
probably null |
Het |
| Pltp |
T |
A |
2: 164,682,446 (GRCm39) |
Y344F |
probably benign |
Het |
| Ppp6r2 |
A |
G |
15: 89,140,958 (GRCm39) |
Y107C |
probably benign |
Het |
| Ptprk |
A |
G |
10: 28,451,614 (GRCm39) |
D1034G |
possibly damaging |
Het |
| Rell1 |
C |
T |
5: 64,084,354 (GRCm39) |
V221I |
probably damaging |
Het |
| Skint5 |
A |
G |
4: 113,336,910 (GRCm39) |
F1429S |
probably benign |
Het |
| Slc22a28 |
T |
A |
19: 8,094,491 (GRCm39) |
T177S |
probably benign |
Het |
| Stxbp5 |
G |
T |
10: 9,638,700 (GRCm39) |
S1033* |
probably null |
Het |
| Tgs1 |
A |
G |
4: 3,585,564 (GRCm39) |
D147G |
probably benign |
Het |
| Thumpd3 |
T |
A |
6: 113,044,256 (GRCm39) |
N423K |
probably benign |
Het |
| Tns3 |
G |
T |
11: 8,442,346 (GRCm39) |
D672E |
probably benign |
Het |
| Vmn2r61 |
T |
A |
7: 41,924,892 (GRCm39) |
V482E |
possibly damaging |
Het |
| Vmn2r72 |
G |
T |
7: 85,387,879 (GRCm39) |
Q562K |
probably benign |
Het |
| Zan |
T |
C |
5: 137,398,810 (GRCm39) |
T4185A |
unknown |
Het |
|
| Other mutations in H1f7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01693:H1f7
|
APN |
15 |
98,154,262 (GRCm39) |
missense |
unknown |
|
|
IGL02088:H1f7
|
APN |
15 |
98,155,059 (GRCm39) |
missense |
probably damaging |
0.98 |
|
IGL02322:H1f7
|
APN |
15 |
98,154,757 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
F2404:H1f7
|
UTSW |
15 |
98,155,090 (GRCm39) |
missense |
possibly damaging |
0.95 |
|
R0584:H1f7
|
UTSW |
15 |
98,154,958 (GRCm39) |
nonsense |
probably null |
|
|
R1022:H1f7
|
UTSW |
15 |
98,154,636 (GRCm39) |
missense |
unknown |
|
|
R1024:H1f7
|
UTSW |
15 |
98,154,636 (GRCm39) |
missense |
unknown |
|
|
R1462:H1f7
|
UTSW |
15 |
98,154,454 (GRCm39) |
missense |
unknown |
|
|
R1462:H1f7
|
UTSW |
15 |
98,154,454 (GRCm39) |
missense |
unknown |
|
|
R1665:H1f7
|
UTSW |
15 |
98,154,796 (GRCm39) |
missense |
probably benign |
0.00 |
|
R1733:H1f7
|
UTSW |
15 |
98,154,016 (GRCm39) |
missense |
unknown |
|
|
R2213:H1f7
|
UTSW |
15 |
98,154,219 (GRCm39) |
missense |
unknown |
|
|
R4683:H1f7
|
UTSW |
15 |
98,154,921 (GRCm39) |
missense |
probably damaging |
0.99 |
|
R4969:H1f7
|
UTSW |
15 |
98,154,216 (GRCm39) |
missense |
unknown |
|
|
R6241:H1f7
|
UTSW |
15 |
98,154,652 (GRCm39) |
missense |
unknown |
|
|
R6489:H1f7
|
UTSW |
15 |
98,154,888 (GRCm39) |
nonsense |
probably null |
|
|
R6703:H1f7
|
UTSW |
15 |
98,155,153 (GRCm39) |
start gained |
probably benign |
|
|
R7131:H1f7
|
UTSW |
15 |
98,154,250 (GRCm39) |
nonsense |
probably null |
|
|
R7750:H1f7
|
UTSW |
15 |
98,154,565 (GRCm39) |
missense |
unknown |
|
|
R9454:H1f7
|
UTSW |
15 |
98,154,823 (GRCm39) |
missense |
probably benign |
0.01 |
|
R9461:H1f7
|
UTSW |
15 |
98,155,138 (GRCm39) |
missense |
probably damaging |
0.99 |
|
Z1177:H1f7
|
UTSW |
15 |
98,155,128 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Posted On |
2015-04-16 |
Incidental Mutation