Incidental Mutation 'IGL02088:H1f7'
| ID |
279316 |
| 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 # |
IGL02088
|
| Quality Score |
|
|
Status
|
|
| Chromosome |
15 |
| Chromosomal Location |
98153867-98155174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to T
at 98155059 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Lysine
at position 30
(T30K)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060855]
|
| AlphaFold |
Q8CJI4 |
| Predicted Effect |
probably damaging
Transcript: ENSMUST00000060855
AA Change: T30K
PolyPhen 2
Score 0.976 (Sensitivity: 0.76; Specificity: 0.96)
|
| SMART Domains |
Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: T30K
| 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: 38 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Ackr4 |
T |
C |
9: 103,976,080 (GRCm39) |
E289G |
probably damaging |
Het |
| Aldh1l1 |
A |
T |
6: 90,557,572 (GRCm39) |
|
probably benign |
Het |
| Ampd3 |
T |
A |
7: 110,392,893 (GRCm39) |
D220E |
probably benign |
Het |
| Ank3 |
T |
C |
10: 69,835,203 (GRCm39) |
V136A |
probably damaging |
Het |
| Atg14 |
T |
C |
14: 47,780,316 (GRCm39) |
K486R |
probably benign |
Het |
| Axin1 |
A |
G |
17: 26,407,669 (GRCm39) |
I637V |
probably benign |
Het |
| Axin2 |
T |
A |
11: 108,814,442 (GRCm39) |
F110Y |
probably damaging |
Het |
| Cdh12 |
A |
T |
15: 21,480,425 (GRCm39) |
K214* |
probably null |
Het |
| Cfap44 |
A |
C |
16: 44,271,991 (GRCm39) |
E1248A |
possibly damaging |
Het |
| Cryba4 |
A |
G |
5: 112,398,875 (GRCm39) |
|
probably benign |
Het |
| Cyp2c68 |
A |
G |
19: 39,691,965 (GRCm39) |
|
probably benign |
Het |
| Dnah5 |
G |
T |
15: 28,459,264 (GRCm39) |
|
probably null |
Het |
| Dok3 |
A |
T |
13: 55,672,183 (GRCm39) |
V165E |
probably damaging |
Het |
| Etl4 |
A |
T |
2: 20,811,359 (GRCm39) |
R1147S |
probably damaging |
Het |
| Fbxl6 |
G |
T |
15: 76,420,106 (GRCm39) |
C502* |
probably null |
Het |
| Gp2 |
A |
T |
7: 119,053,692 (GRCm39) |
Y90N |
probably damaging |
Het |
| Inka1 |
A |
G |
9: 107,861,656 (GRCm39) |
F220S |
probably damaging |
Het |
| Itfg2 |
A |
G |
6: 128,388,569 (GRCm39) |
V306A |
probably benign |
Het |
| Lrig2 |
T |
C |
3: 104,374,424 (GRCm39) |
Y219C |
probably damaging |
Het |
| Mccc1 |
A |
T |
3: 36,028,351 (GRCm39) |
I485N |
probably damaging |
Het |
| Mettl25 |
A |
G |
10: 105,659,111 (GRCm39) |
F391L |
probably damaging |
Het |
| Muc19 |
C |
T |
15: 91,775,362 (GRCm39) |
|
noncoding transcript |
Het |
| Muc2 |
T |
C |
7: 141,305,241 (GRCm39) |
C182R |
probably damaging |
Het |
| Nlrp4g |
T |
C |
9: 124,350,453 (GRCm38) |
|
noncoding transcript |
Het |
| Nms |
A |
G |
1: 38,978,358 (GRCm39) |
|
probably benign |
Het |
| Nr3c1 |
T |
C |
18: 39,557,444 (GRCm39) |
N503S |
probably damaging |
Het |
| Or10q12 |
T |
C |
19: 13,746,030 (GRCm39) |
F108S |
probably damaging |
Het |
| Or5h18 |
A |
G |
16: 58,847,415 (GRCm39) |
L285P |
probably damaging |
Het |
| Or7g16 |
C |
T |
9: 18,727,219 (GRCm39) |
V124I |
probably benign |
Het |
| Pcdhb5 |
G |
A |
18: 37,455,012 (GRCm39) |
S464N |
probably benign |
Het |
| Pcgf6 |
T |
C |
19: 47,039,243 (GRCm39) |
T6A |
unknown |
Het |
| Rdx |
A |
G |
9: 51,972,183 (GRCm39) |
|
probably benign |
Het |
| Shmt1 |
T |
C |
11: 60,680,479 (GRCm39) |
T403A |
probably damaging |
Het |
| Slc35d1 |
A |
G |
4: 103,068,522 (GRCm39) |
F148L |
probably benign |
Het |
| Tk1 |
A |
G |
11: 117,715,491 (GRCm39) |
|
probably benign |
Het |
| Tnks |
T |
A |
8: 35,307,148 (GRCm39) |
I1134F |
possibly damaging |
Het |
| Ttn |
A |
G |
2: 76,557,035 (GRCm39) |
V29990A |
probably damaging |
Het |
| Tut4 |
A |
G |
4: 108,369,415 (GRCm39) |
|
probably benign |
Het |
|
| Other mutations in H1f7 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01693:H1f7
|
APN |
15 |
98,154,262 (GRCm39) |
missense |
unknown |
|
|
IGL02322:H1f7
|
APN |
15 |
98,154,757 (GRCm39) |
missense |
possibly damaging |
0.94 |
|
IGL02697:H1f7
|
APN |
15 |
98,155,050 (GRCm39) |
missense |
probably benign |
0.02 |
|
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