Incidental Mutation 'R8294:H4c1'
ID 638863
Institutional Source Beutler Lab
Gene Symbol H4c1
Ensembl Gene ENSMUSG00000060093
Gene Name H4 clustered histone 1
Synonyms Hist1h4a
MMRRC Submission 067784-MU
Accession Numbers
Essential gene? Not available question?
Stock # R8294 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 23944778-23945232 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23944957 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 62 (F62L)
Ref Sequence ENSEMBL: ENSMUSP00000100029 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000055770] [ENSMUST00000091701] [ENSMUST00000102964] [ENSMUST00000102965]
AlphaFold P62806
Predicted Effect probably benign
Transcript: ENSMUST00000055770
SMART Domains Protein: ENSMUSP00000062030
Gene: ENSMUSG00000049539

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 damaging
Transcript: ENSMUST00000102964
AA Change: F62L

PolyPhen 2 Score 0.961 (Sensitivity: 0.78; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000100029
Gene: ENSMUSG00000060093
AA Change: F62L

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000102965
SMART Domains Protein: ENSMUSP00000100030
Gene: ENSMUSG00000069266

DomainStartEndE-ValueType
H4 16 90 2.59e-29 SMART
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 98.9%
Validation Efficiency 98% (42/43)
MGI Phenotype FUNCTION: Histones are basic nuclear proteins that are responsible for the 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 H4 family. Transcripts from this gene lack polyA tails but instead contain a palindromic termination element. [provided by RefSeq, Aug 2015]
Allele List at MGI
Other mutations in this stock
Total: 44 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca4 T C 3: 121,897,217 (GRCm39) V632A possibly damaging Het
Abcf2 CAT CATAAT 5: 24,781,589 (GRCm39) probably benign Het
Acat2 T C 17: 13,175,243 (GRCm39) I79V probably benign Het
Arid3a A T 10: 79,786,535 (GRCm39) silent Het
Cecr2 C T 6: 120,710,747 (GRCm39) A154V probably damaging Het
Cog3 A C 14: 75,954,619 (GRCm39) L650R probably damaging Het
Col12a1 A T 9: 79,606,594 (GRCm39) F610I possibly damaging Het
Col24a1 A G 3: 145,186,844 (GRCm39) D1215G probably null Het
Ctsh C G 9: 89,950,489 (GRCm39) A219G possibly damaging Het
Dnah10 C T 5: 124,859,410 (GRCm39) L2126F probably damaging Het
Dock10 A G 1: 80,488,079 (GRCm39) V2028A possibly damaging Het
Ece1 T C 4: 137,675,931 (GRCm39) V435A possibly damaging Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Hk1 T G 10: 62,131,624 (GRCm39) I245L probably benign Het
Hyal6 A C 6: 24,734,378 (GRCm39) K104Q possibly damaging Het
Kalrn T C 16: 33,853,954 (GRCm39) I2017V probably benign Het
Khdc4 C T 3: 88,603,915 (GRCm39) A244V probably damaging Het
Krt72 A T 15: 101,694,472 (GRCm39) L141Q probably damaging Het
Map3k4 C A 17: 12,537,500 (GRCm39) A6S unknown Het
Muc6 T C 7: 141,217,263 (GRCm39) Y2470C possibly damaging Het
Nrip1 A G 16: 76,089,418 (GRCm39) V713A probably damaging Het
Or10q1b A G 19: 13,683,010 (GRCm39) D273G probably benign Het
Or11g26 A G 14: 50,753,083 (GRCm39) T141A possibly damaging Het
Or2ah1 T A 2: 85,653,531 (GRCm39) I72N probably damaging Het
Or6aa1 T C 7: 86,044,487 (GRCm39) Y73C probably damaging Het
Paip1 C T 13: 119,587,300 (GRCm39) T304I possibly damaging Het
Pde4dip A G 3: 97,674,694 (GRCm39) L74P probably damaging Het
Prkch T A 12: 73,806,484 (GRCm39) L577H probably damaging Het
Rp1 A G 1: 4,416,220 (GRCm39) S1631P probably benign Het
Rph3a A G 5: 121,099,429 (GRCm39) F154S probably damaging Het
S1pr5 A G 9: 21,156,300 (GRCm39) V42A possibly damaging Het
Scaper G A 9: 55,517,280 (GRCm39) L1052F possibly damaging Het
Slc44a2 G T 9: 21,259,643 (GRCm39) V597F probably damaging Het
Srsf1 T A 11: 87,939,467 (GRCm39) S116T probably benign Het
Ssh2 A G 11: 77,345,027 (GRCm39) D1004G probably benign Het
St3gal5 T A 6: 72,074,816 (GRCm39) D25E Het
Syt17 A T 7: 118,009,228 (GRCm39) Y327N probably damaging Het
T T A 17: 8,653,364 (GRCm39) M1K probably null Het
Tmem201 A T 4: 149,815,554 (GRCm39) I132N possibly damaging Het
Tmprss15 A T 16: 78,868,176 (GRCm39) C211S probably benign Het
Trim36 T C 18: 46,331,588 (GRCm39) D7G probably benign Het
Trip11 T A 12: 101,811,160 (GRCm39) K1863N possibly damaging Het
Vmn2r13 A T 5: 109,322,978 (GRCm39) S104T probably benign Het
Zfp977 T C 7: 42,229,689 (GRCm39) T279A probably benign Het
Other mutations in H4c1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R4668:H4c1 UTSW 13 23,944,959 (GRCm39) missense probably benign 0.03
R4887:H4c1 UTSW 13 23,944,935 (GRCm39) missense probably damaging 0.99
R4888:H4c1 UTSW 13 23,944,935 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- CCAAGCTGTTAGGTGGTTCAG -3'
(R):5'- CTTCCTAAGACATGTCGGGTC -3'

Sequencing Primer
(F):5'- CAGTATTACAGCGCTTTTTCAGG -3'
(R):5'- TGTCGGGTCGCGGCAAG -3'
Posted On 2020-07-28