Incidental Mutation 'R6538:H1f6'
| ID |
520554 |
| Institutional Source |
Beutler Lab
|
| Gene Symbol |
H1f6
|
| Ensembl Gene |
ENSMUSG00000036211 |
| Gene Name |
H1.6 linker histone, cluster member |
| Synonyms |
H1ft, H1t, Hist1h1t |
| MMRRC Submission |
044664-MU
|
| Accession Numbers |
|
| Essential gene? |
Non essential
(E-score: 0.000)
|
| Stock # |
R6538 (G1)
|
| Quality Score |
225.009 |
|
Status
|
Not validated
|
| Chromosome |
13 |
| Chromosomal Location |
23879794-23880528 bp(+) (GRCm39) |
| Type of Mutation |
missense |
| DNA Base Change (assembly) |
A to G
at 23879904 bp (GRCm39)
|
| Zygosity |
Heterozygous |
| Amino Acid Change |
Glutamic Acid to Glycine
at position 19
(E19G)
|
| Ref Sequence |
ENSEMBL: ENSMUSP00000037304
(fasta)
|
| Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000018246]
[ENSMUST00000041052]
[ENSMUST00000102967]
|
| AlphaFold |
no structure available at present |
| Predicted Effect |
probably benign
Transcript: ENSMUST00000018246
|
| SMART Domains |
Protein: ENSMUSP00000018246
Gene: ENSMUSG00000018102
| Domain | Start | End | E-Value | Type |
|---|
|
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
|
H2B
|
28 |
124 |
1.43e-72 |
SMART |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000041052
AA Change: E19G
PolyPhen 2
Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)
|
| SMART Domains |
Protein: ENSMUSP00000037304
Gene: ENSMUSG00000036211
AA Change: E19G
| Domain | Start | End | E-Value | Type |
|---|
|
H15
|
37 |
102 |
5.15e-21 |
SMART |
|
low complexity region
|
111 |
135 |
N/A |
INTRINSIC |
|
low complexity region
|
142 |
161 |
N/A |
INTRINSIC |
|
| Predicted Effect |
probably benign
Transcript: ENSMUST00000102967
|
| SMART Domains |
Protein: ENSMUSP00000100032
Gene: ENSMUSG00000060678
| Domain | Start | End | E-Value | Type |
|---|
|
H4
|
16 |
90 |
2.59e-29 |
SMART |
|
| Coding Region Coverage |
- 1x: 100.0%
- 3x: 99.9%
- 10x: 99.4%
- 20x: 97.9%
|
| 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 replication-dependent histone that is a member of the histone H1 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element [provided by RefSeq, Aug 2015]
PHENOTYPE: Homozygous null mice develop normally and exhibit normal testicular morphology, spermatogenesis and fertility. [provided by MGI curators]
|
| Allele List at MGI |
|
| Other mutations in this stock |
Total: 28 list
| Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
|---|
| A930009A15Rik |
A |
G |
10: 115,406,104 (GRCm39) |
|
probably benign |
Het |
| Abcd4 |
T |
A |
12: 84,658,535 (GRCm39) |
M223L |
probably benign |
Het |
| Adat1 |
T |
C |
8: 112,695,094 (GRCm39) |
I482V |
probably benign |
Het |
| Adrm1b |
C |
T |
3: 92,336,562 (GRCm39) |
V47M |
possibly damaging |
Het |
| Arfgef2 |
A |
G |
2: 166,735,541 (GRCm39) |
|
probably null |
Het |
| Atn1 |
A |
G |
6: 124,723,512 (GRCm39) |
|
probably benign |
Het |
| Cyb561d2 |
C |
A |
9: 107,417,216 (GRCm39) |
M178I |
possibly damaging |
Het |
| Dnah14 |
A |
T |
1: 181,412,550 (GRCm39) |
H30L |
unknown |
Het |
| Dnah2 |
T |
C |
11: 69,328,023 (GRCm39) |
I3367V |
possibly damaging |
Het |
| Fcmr |
A |
G |
1: 130,802,762 (GRCm39) |
Y125C |
possibly damaging |
Het |
| Gm7298 |
G |
T |
6: 121,753,132 (GRCm39) |
V870L |
probably damaging |
Het |
| Grin3a |
T |
C |
4: 49,770,856 (GRCm39) |
S639G |
probably damaging |
Het |
| Ighv9-1 |
T |
A |
12: 114,057,685 (GRCm39) |
T72S |
possibly damaging |
Het |
| Klra2 |
T |
A |
6: 131,219,953 (GRCm39) |
H76L |
probably damaging |
Het |
| Lamp1 |
A |
G |
8: 13,221,285 (GRCm39) |
T209A |
probably benign |
Het |
| Lrrc9 |
T |
A |
12: 72,547,703 (GRCm39) |
Y1294N |
probably benign |
Het |
| Or2b11 |
C |
T |
11: 59,462,411 (GRCm39) |
V52I |
probably benign |
Het |
| Or5t9 |
A |
T |
2: 86,659,869 (GRCm39) |
T258S |
possibly damaging |
Het |
| Peg10 |
GAT |
GATCAT |
6: 4,756,449 (GRCm39) |
|
probably benign |
Het |
| Pik3ca |
T |
C |
3: 32,493,853 (GRCm39) |
Y272H |
probably damaging |
Het |
| Spindoc |
T |
C |
19: 7,360,064 (GRCm39) |
I35V |
probably benign |
Het |
| St6galnac4 |
A |
C |
2: 32,487,090 (GRCm39) |
M262L |
possibly damaging |
Het |
| Szt2 |
C |
T |
4: 118,247,674 (GRCm39) |
|
probably null |
Het |
| Tcstv7b |
T |
C |
13: 120,702,468 (GRCm39) |
V88A |
possibly damaging |
Het |
| Trem1 |
T |
C |
17: 48,544,118 (GRCm39) |
Y48H |
possibly damaging |
Het |
| Trim38 |
A |
T |
13: 23,969,932 (GRCm39) |
T164S |
probably damaging |
Het |
| Zfp715 |
A |
T |
7: 42,948,573 (GRCm39) |
H462Q |
possibly damaging |
Het |
| Zfyve16 |
C |
T |
13: 92,641,024 (GRCm39) |
G1240E |
probably damaging |
Het |
|
| Other mutations in H1f6 |
| Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
|---|
|
IGL01011:H1f6
|
APN |
13 |
23,880,032 (GRCm39) |
missense |
probably damaging |
0.98 |
|
FR4304:H1f6
|
UTSW |
13 |
23,879,903 (GRCm39) |
unclassified |
probably benign |
|
|
FR4342:H1f6
|
UTSW |
13 |
23,879,896 (GRCm39) |
unclassified |
probably benign |
|
|
FR4548:H1f6
|
UTSW |
13 |
23,879,903 (GRCm39) |
unclassified |
probably benign |
|
|
R0167:H1f6
|
UTSW |
13 |
23,879,886 (GRCm39) |
missense |
probably benign |
0.02 |
|
R0238:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0238:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0564:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0726:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R0827:H1f6
|
UTSW |
13 |
23,880,204 (GRCm39) |
missense |
probably benign |
0.01 |
|
R0972:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1128:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1129:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R1130:H1f6
|
UTSW |
13 |
23,880,307 (GRCm39) |
missense |
possibly damaging |
0.92 |
|
R5652:H1f6
|
UTSW |
13 |
23,880,219 (GRCm39) |
missense |
probably benign |
0.01 |
|
R5827:H1f6
|
UTSW |
13 |
23,880,185 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R7729:H1f6
|
UTSW |
13 |
23,880,455 (GRCm39) |
missense |
possibly damaging |
0.93 |
|
R7774:H1f6
|
UTSW |
13 |
23,880,183 (GRCm39) |
missense |
possibly damaging |
0.91 |
|
R9229:H1f6
|
UTSW |
13 |
23,880,029 (GRCm39) |
missense |
probably damaging |
1.00 |
|
R9723:H1f6
|
UTSW |
13 |
23,879,906 (GRCm39) |
missense |
probably damaging |
1.00 |
|
| Predicted Primers |
PCR Primer
(F):5'- TGGGGATGCACCAATCACAG -3'
(R):5'- ATTCACAAGTCTCTTGAGGGCC -3'
Sequencing Primer
(F):5'- AGCGCGCCCTGCTCTATATAAG -3'
(R):5'- CTCTTGAGGGCCAGCTTGATAC -3'
|
| Posted On |
2018-06-06 |
Incidental Mutation