Incidental Mutation 'R2080:Hist1h1a'
ID 229434
Institutional Source Beutler Lab
Gene Symbol Hist1h1a
Ensembl Gene ENSMUSG00000049539
Gene Name histone cluster 1, H1a
Synonyms H1a, H1f1, H1.1, H1var3
MMRRC Submission 040085-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R2080 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 23763666-23764406 bp(+) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23763949 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 78 (N78S)
Ref Sequence ENSEMBL: ENSMUSP00000062030 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964]
AlphaFold P43275
Predicted Effect possibly damaging
Transcript: ENSMUST00000055770
AA Change: N78S

PolyPhen 2 Score 0.814 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000062030
Gene: ENSMUSG00000049539
AA Change: N78S

DomainStartEndE-ValueType
H15 36 101 3.22e-22 SMART
low complexity region 120 213 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000091701
SMART Domains Protein: ENSMUSP00000089293
Gene: ENSMUSG00000069265

DomainStartEndE-ValueType
H3 34 136 1.5e-75 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102964
SMART Domains Protein: ENSMUSP00000100029
Gene: ENSMUSG00000060093

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Meta Mutation Damage Score 0.0959 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.2%
  • 20x: 94.7%
Validation Efficiency 100% (55/55)
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: Mice homozygous for a targeted null mutation are viable, fertile and do not exhibit any defects in the reproductive system or in spermatogenesis. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310003L06Rik A T 5: 87,971,933 (GRCm38) D183V probably damaging Het
Ambra1 T A 2: 91,885,719 (GRCm38) D858E probably damaging Het
Amdhd2 T C 17: 24,156,604 (GRCm38) T370A probably benign Het
Amy1 A G 3: 113,558,094 (GRCm38) W449R probably benign Het
Aox3 A T 1: 58,186,280 (GRCm38) I1179F probably benign Het
Atp10a C A 7: 58,824,327 (GRCm38) Q1121K probably damaging Het
Btaf1 C T 19: 36,951,148 (GRCm38) A123V probably benign Het
Car6 T C 4: 150,198,141 (GRCm38) K16E probably benign Het
Cgnl1 C T 9: 71,656,096 (GRCm38) D779N probably benign Het
Cyp2a4 G A 7: 26,308,537 (GRCm38) R123Q possibly damaging Het
D430041D05Rik C T 2: 104,156,816 (GRCm38) R1895Q probably damaging Het
D5Ertd579e T A 5: 36,616,206 (GRCm38) T282S probably benign Het
Dsel T C 1: 111,859,962 (GRCm38) T948A probably benign Het
Ednrb A T 14: 103,843,100 (GRCm38) I126N probably damaging Het
Egln1 A G 8: 124,948,306 (GRCm38) M250T probably benign Het
Epb41l3 A T 17: 69,253,468 (GRCm38) I337L possibly damaging Het
Epg5 T C 18: 77,948,745 (GRCm38) I219T probably benign Het
Gm13030 T C 4: 138,873,419 (GRCm38) probably benign Het
Gm1527 T A 3: 28,926,661 (GRCm38) C637S probably benign Het
Insrr T C 3: 87,814,291 (GRCm38) I1168T possibly damaging Het
Ireb2 T C 9: 54,896,552 (GRCm38) V509A possibly damaging Het
Kmt2c T C 5: 25,354,717 (GRCm38) D981G probably damaging Het
Ktn1 A G 14: 47,725,960 (GRCm38) E1164G probably damaging Het
L3hypdh A T 12: 72,079,527 (GRCm38) V213E probably damaging Het
Masp1 T G 16: 23,491,959 (GRCm38) D241A probably damaging Het
Mfsd13b A G 7: 120,991,824 (GRCm38) I1V probably null Het
Muc5b T C 7: 141,869,754 (GRCm38) V4531A probably benign Het
Myh2 A T 11: 67,174,941 (GRCm38) probably null Het
Naip5 A G 13: 100,221,533 (GRCm38) L1065P probably damaging Het
Necab1 T C 4: 15,140,219 (GRCm38) probably benign Het
Nemf A G 12: 69,353,786 (GRCm38) probably benign Het
Nfil3 A T 13: 52,968,033 (GRCm38) D278E possibly damaging Het
Nup98 T C 7: 102,180,424 (GRCm38) N393S probably damaging Het
Ogdh T A 11: 6,349,393 (GRCm38) M753K probably benign Het
Olfr11 A T 13: 21,639,436 (GRCm38) V29E probably damaging Het
Olfr1297 C T 2: 111,621,739 (GRCm38) V112M probably benign Het
Olfr273 T C 4: 52,855,568 (GRCm38) Y315C probably benign Het
Olfr561 T C 7: 102,775,243 (GRCm38) F240L probably benign Het
Olfr901 T A 9: 38,431,082 (GRCm38) S267T probably benign Het
Pkd2 A G 5: 104,477,123 (GRCm38) K262E probably benign Het
Plce1 C T 19: 38,727,013 (GRCm38) probably benign Het
Ppm1f T A 16: 16,923,880 (GRCm38) M406K possibly damaging Het
Ptgs1 C T 2: 36,242,847 (GRCm38) Q286* probably null Het
Scube2 T C 7: 109,808,505 (GRCm38) T743A possibly damaging Het
Tipin T A 9: 64,290,376 (GRCm38) L69* probably null Het
Tlk1 T A 2: 70,738,445 (GRCm38) K404N probably damaging Het
Tmem59 C A 4: 107,178,774 (GRCm38) L16I probably damaging Het
Utrn T C 10: 12,737,082 (GRCm38) E426G probably benign Het
Xdh A T 17: 73,909,325 (GRCm38) S709T probably damaging Het
Yjefn3 T C 8: 69,889,487 (GRCm38) N28D probably damaging Het
Zfp598 A C 17: 24,679,667 (GRCm38) D480A probably damaging Het
Other mutations in Hist1h1a
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0414:Hist1h1a UTSW 13 23,764,158 (GRCm38) unclassified probably benign
R5316:Hist1h1a UTSW 13 23,764,102 (GRCm38) unclassified probably benign
R8099:Hist1h1a UTSW 13 23,763,849 (GRCm38) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- TCTACTGCCACGGAGAAACC -3'
(R):5'- AGTCTTCTTAGCTGCAGCCC -3'

Sequencing Primer
(F):5'- ACGGAGAAACCTGCTGCTG -3'
(R):5'- AGCCCCAGCAGTCTTCTTAGG -3'
Posted On 2014-09-17