Incidental Mutation 'R1022:H1f7'
| ID |
98806 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H1f7
|
| Ensembl Gene |
ENSMUSG00000048077 |
| Gene Name |
H1.7 linker histone |
| Synonyms |
H1T2, 1700026P10Rik, H1-7, H1fnt |
| MMRRC Submission |
039124-MU
|
| Accession Numbers |
|
| Essential gene? |
Probably non essential
(E-score: 0.185)
|
| Stock # |
R1022 (G1)
|
| Quality Score |
225 |
|
Status
|
Not validated
|
| Chromosome |
15 |
| Chromosomal Location |
98153867-98155174 bp(-) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
G to A
at 98154636 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Threonine to Isoleucine
at position 171
(T171I)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000127616
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000060855]
|
| AlphaFold |
Q8CJI4 |
| Predicted Effect |
unknown
Transcript: ENSMUST00000060855
AA Change: T171I
|
| SMART Domains |
Protein: ENSMUSP00000127616
Gene: ENSMUSG00000048077
AA Change: T171I
| 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 |
- 1x: 98.9%
- 3x: 97.7%
- 10x: 94.5%
- 20x: 87.2%
|
| 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: 35 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| Atxn2l |
A |
T |
7: 126,096,466 (GRCm39) |
N425K |
probably benign |
Het |
| Ccar2 |
A |
G |
14: 70,377,964 (GRCm39) |
S674P |
probably damaging |
Het |
| Cdc14b |
A |
T |
13: 64,363,490 (GRCm39) |
V257E |
probably damaging |
Het |
| Cfap100 |
T |
A |
6: 90,389,986 (GRCm39) |
T101S |
possibly damaging |
Het |
| Dock6 |
A |
T |
9: 21,744,908 (GRCm39) |
L556H |
probably damaging |
Het |
| Dqx1 |
G |
A |
6: 83,038,070 (GRCm39) |
C486Y |
probably damaging |
Het |
| Drd1 |
T |
A |
13: 54,207,333 (GRCm39) |
M294L |
probably benign |
Het |
| Extl1 |
TGCGTTGCACCGATACCGGG |
TG |
4: 134,084,988 (GRCm39) |
|
probably benign |
Het |
| Fcho2 |
A |
T |
13: 98,869,167 (GRCm39) |
I568N |
probably damaging |
Het |
| Folr1 |
A |
G |
7: 101,507,810 (GRCm39) |
M210T |
probably damaging |
Het |
| Gatc |
T |
A |
5: 115,478,904 (GRCm39) |
|
probably null |
Het |
| Hnrnpd |
C |
A |
5: 100,114,016 (GRCm39) |
*87L |
probably null |
Het |
| Hpd |
C |
T |
5: 123,312,532 (GRCm39) |
R279H |
possibly damaging |
Het |
| Igfals |
G |
A |
17: 25,099,457 (GRCm39) |
V183M |
probably damaging |
Het |
| Marchf2 |
C |
A |
17: 33,928,762 (GRCm39) |
G45C |
probably damaging |
Het |
| Myo15a |
A |
T |
11: 60,370,442 (GRCm39) |
R1067S |
probably benign |
Het |
| Nell1 |
A |
G |
7: 49,770,411 (GRCm39) |
S157G |
probably damaging |
Het |
| Nf1 |
A |
T |
11: 79,437,859 (GRCm39) |
E2072D |
probably damaging |
Het |
| Nop2 |
T |
A |
6: 125,114,149 (GRCm39) |
V205E |
probably benign |
Het |
| Nudt8 |
T |
A |
19: 4,051,925 (GRCm39) |
W179R |
probably damaging |
Het |
| Or4k5 |
A |
T |
14: 50,385,384 (GRCm39) |
F316I |
probably benign |
Het |
| Otx2 |
TCTGCTGCTGCTGCTGCTG |
TCTGCTGCTGCTGCTG |
14: 48,896,729 (GRCm39) |
|
probably benign |
Het |
| Prl5a1 |
G |
A |
13: 28,333,880 (GRCm39) |
V128I |
probably damaging |
Het |
| Pth1r |
A |
T |
9: 110,571,295 (GRCm39) |
L25Q |
probably damaging |
Het |
| Pth1r |
T |
C |
9: 110,558,689 (GRCm39) |
D96G |
probably benign |
Het |
| Rwdd2b |
A |
T |
16: 87,233,738 (GRCm39) |
C121S |
probably damaging |
Het |
| Scn10a |
A |
G |
9: 119,438,340 (GRCm39) |
I1843T |
probably damaging |
Het |
| Sirt5 |
A |
G |
13: 43,524,245 (GRCm39) |
I6V |
probably benign |
Het |
| Slc5a3 |
G |
A |
16: 91,874,383 (GRCm39) |
A147T |
probably damaging |
Het |
| Stxbp1 |
T |
C |
2: 32,704,979 (GRCm39) |
|
probably null |
Het |
| Syt3 |
G |
T |
7: 44,040,106 (GRCm39) |
G113V |
probably damaging |
Het |
| Tatdn2 |
A |
G |
6: 113,686,506 (GRCm39) |
T644A |
probably damaging |
Het |
| Trim9 |
T |
A |
12: 70,298,791 (GRCm39) |
|
probably null |
Het |
| Tut1 |
A |
G |
19: 8,936,719 (GRCm39) |
N181S |
probably benign |
Het |
| Vmn2r90 |
A |
T |
17: 17,948,400 (GRCm39) |
I549F |
probably damaging |
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 |
|
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 |
|
|
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 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGAACGCACTAGGTCCTTAGCTC -3'
(R):5'- CTGACTCTGGATGCGCTCAAGAAG -3'
Sequencing Primer
(F):5'- ctagaccttgcccttgacc -3'
(R):5'- CTTCAGGGTCTGGAAGATTTCAAAG -3'
|
| Posted On |
2014-01-09 |
Incidental Mutation