Incidental Mutation 'R3757:H1f4'
ID |
271490 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
H1f4
|
Ensembl Gene |
ENSMUSG00000051627 |
Gene Name |
H1.4 linker histone, cluster member |
Synonyms |
H1f4, H1-4, H1e, H1var2, Hist1h1e, H1s-4 |
Accession Numbers |
|
Essential gene? |
Non essential
(E-score: 0.000)
|
Stock # |
R3757 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
13 |
Chromosomal Location |
23805760-23806541 bp(-) (GRCm39) |
Type of Mutation |
nonsense |
DNA Base Change (assembly) |
T to A
at 23806240 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Lysine to Stop codon
at position 81
(K81*)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000057308
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000051091]
[ENSMUST00000062045]
[ENSMUST00000091704]
|
AlphaFold |
P43274 |
Predicted Effect |
probably benign
Transcript: ENSMUST00000051091
|
SMART Domains |
Protein: ENSMUSP00000061247 Gene: ENSMUSG00000047246
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
H2B
|
28 |
124 |
1.43e-72 |
SMART |
|
Predicted Effect |
probably null
Transcript: ENSMUST00000062045
AA Change: K81*
|
SMART Domains |
Protein: ENSMUSP00000057308 Gene: ENSMUSG00000051627 AA Change: K81*
Domain | Start | End | E-Value | Type |
low complexity region
|
5 |
15 |
N/A |
INTRINSIC |
H15
|
34 |
99 |
7.5e-23 |
SMART |
low complexity region
|
116 |
219 |
N/A |
INTRINSIC |
|
Predicted Effect |
probably benign
Transcript: ENSMUST00000091704
|
SMART Domains |
Protein: ENSMUSP00000089296 Gene: ENSMUSG00000047246
Domain | Start | End | E-Value | Type |
low complexity region
|
2 |
18 |
N/A |
INTRINSIC |
H2B
|
28 |
124 |
1.43e-72 |
SMART |
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000120330
|
Predicted Effect |
noncoding transcript
Transcript: ENSMUST00000129312
|
Meta Mutation Damage Score |
0.9653 |
Coding Region Coverage |
- 1x: 99.1%
- 3x: 98.5%
- 10x: 97.0%
- 20x: 94.3%
|
Validation Efficiency |
92% (35/38) |
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: Homozygotes for targeted null mutations are normal, but Hist1h1e/Hist1h1c double knockout males are significantly smaller than normal. The Hist1h1e/Hist1h1d/Hist1h1e triple knockout is lethal by embryonic day 12.5, and heterozygotes are underrepresented. [provided by MGI curators]
|
Allele List at MGI |
|
Other mutations in this stock |
Total: 36 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Adamtsl3 |
T |
A |
7: 81,986,415 (GRCm39) |
I9K |
probably benign |
Het |
Arhgap31 |
T |
C |
16: 38,457,362 (GRCm39) |
E82G |
probably damaging |
Het |
Asap2 |
T |
A |
12: 21,317,767 (GRCm39) |
S993T |
probably damaging |
Het |
Bmpr1a |
A |
T |
14: 34,156,624 (GRCm39) |
L134* |
probably null |
Het |
Cacna1e |
A |
G |
1: 154,509,442 (GRCm39) |
V271A |
probably damaging |
Het |
Cacna2d4 |
A |
G |
6: 119,218,124 (GRCm39) |
E153G |
probably damaging |
Het |
Cage1 |
A |
C |
13: 38,209,705 (GRCm39) |
F91V |
possibly damaging |
Het |
Cdh24 |
T |
C |
14: 54,869,637 (GRCm39) |
D760G |
possibly damaging |
Het |
Col9a1 |
T |
C |
1: 24,271,312 (GRCm39) |
|
probably null |
Het |
Cts6 |
A |
T |
13: 61,349,972 (GRCm39) |
Y36* |
probably null |
Het |
Dennd3 |
C |
G |
15: 73,394,083 (GRCm39) |
A36G |
probably benign |
Het |
Dmxl1 |
G |
A |
18: 50,068,384 (GRCm39) |
G2719D |
probably damaging |
Het |
Dnajc28 |
G |
A |
16: 91,413,755 (GRCm39) |
T187M |
probably damaging |
Het |
Ep300 |
T |
A |
15: 81,532,790 (GRCm39) |
V1676E |
unknown |
Het |
Ercc4 |
C |
T |
16: 12,962,360 (GRCm39) |
T668M |
probably benign |
Het |
G530012D18Rik |
CAGAGAGA |
CAGAGAGAGA |
1: 85,504,945 (GRCm39) |
|
probably null |
Het |
Gm10985 |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
GCTCTCTCTCTCTCTCTCTCTCTCTCTCTCT |
3: 53,752,645 (GRCm39) |
|
probably null |
Het |
Havcr1 |
G |
T |
11: 46,643,407 (GRCm39) |
R109L |
probably damaging |
Het |
Krtap4-9 |
A |
G |
11: 99,676,444 (GRCm39) |
|
probably benign |
Het |
Layn |
T |
C |
9: 50,970,856 (GRCm39) |
E229G |
probably benign |
Het |
Lpcat3 |
T |
A |
6: 124,676,955 (GRCm39) |
|
probably null |
Het |
Lrrn1 |
T |
A |
6: 107,546,169 (GRCm39) |
F656I |
possibly damaging |
Het |
Lypd1 |
A |
G |
1: 125,838,121 (GRCm39) |
|
probably benign |
Het |
Or4k41 |
T |
A |
2: 111,279,602 (GRCm39) |
V39E |
possibly damaging |
Het |
Or5v1b |
T |
A |
17: 37,841,246 (GRCm39) |
I126N |
probably damaging |
Het |
Or6c207 |
T |
C |
10: 129,104,934 (GRCm39) |
D86G |
probably damaging |
Het |
Ptprt |
A |
T |
2: 161,653,950 (GRCm39) |
L560Q |
probably damaging |
Het |
Rbm11 |
T |
C |
16: 75,393,469 (GRCm39) |
V55A |
probably damaging |
Het |
Scn11a |
C |
T |
9: 119,632,569 (GRCm39) |
V434I |
probably benign |
Het |
Serpinc1 |
A |
G |
1: 160,829,935 (GRCm39) |
T434A |
probably benign |
Het |
Setd2 |
T |
C |
9: 110,402,753 (GRCm39) |
I1798T |
probably damaging |
Het |
Sfswap |
A |
G |
5: 129,590,298 (GRCm39) |
Y265C |
probably damaging |
Het |
Slc9a8 |
C |
A |
2: 167,266,050 (GRCm39) |
T9K |
probably benign |
Het |
Synpo |
T |
C |
18: 60,736,062 (GRCm39) |
D389G |
probably damaging |
Het |
Vmn1r181 |
C |
T |
7: 23,683,909 (GRCm39) |
L125F |
possibly damaging |
Het |
Wdfy4 |
A |
C |
14: 32,745,331 (GRCm39) |
H2296Q |
probably benign |
Het |
|
Other mutations in H1f4 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL00777:H1f4
|
APN |
13 |
23,806,005 (GRCm39) |
unclassified |
probably benign |
|
IGL03354:H1f4
|
APN |
13 |
23,806,060 (GRCm39) |
unclassified |
probably benign |
|
PIT4469001:H1f4
|
UTSW |
13 |
23,806,362 (GRCm39) |
missense |
probably damaging |
1.00 |
R2339:H1f4
|
UTSW |
13 |
23,805,943 (GRCm39) |
unclassified |
probably benign |
|
R3110:H1f4
|
UTSW |
13 |
23,805,829 (GRCm39) |
unclassified |
probably benign |
|
R3112:H1f4
|
UTSW |
13 |
23,805,829 (GRCm39) |
unclassified |
probably benign |
|
R3758:H1f4
|
UTSW |
13 |
23,806,240 (GRCm39) |
nonsense |
probably null |
|
R5116:H1f4
|
UTSW |
13 |
23,806,270 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:H1f4
|
UTSW |
13 |
23,806,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R6034:H1f4
|
UTSW |
13 |
23,806,296 (GRCm39) |
missense |
probably damaging |
1.00 |
R7008:H1f4
|
UTSW |
13 |
23,806,192 (GRCm39) |
missense |
probably damaging |
1.00 |
R7051:H1f4
|
UTSW |
13 |
23,806,422 (GRCm39) |
missense |
probably benign |
0.00 |
R7317:H1f4
|
UTSW |
13 |
23,806,350 (GRCm39) |
missense |
probably damaging |
1.00 |
R8220:H1f4
|
UTSW |
13 |
23,805,922 (GRCm39) |
missense |
probably benign |
0.23 |
|
Predicted Primers |
PCR Primer
(F):5'- GCAGCTGGCTTCTTCGCTTT -3'
(R):5'- TCAAGAAGAAGGCCCGCAAG -3'
Sequencing Primer
(F):5'- CCCGCAGCCTTCTTGGG -3'
(R):5'- AACTCATCACCAAGGCTG -3'
|
Posted On |
2015-03-18 |