Incidental Mutation 'R5881:H1f9'
ID 454431
Institutional Source Beutler Lab
Gene Symbol H1f9
Ensembl Gene ENSMUSG00000038994
Gene Name H1.9 linker histone
Synonyms Hils1, TISP64
MMRRC Submission 044085-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.223) question?
Stock # R5881 (G1)
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 94858419-94859282 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 94858989 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 95 (T95A)
Ref Sequence ENSEMBL: ENSMUSP00000039866 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000038928] [ENSMUST00000100551] [ENSMUST00000103162] [ENSMUST00000139855] [ENSMUST00000152042] [ENSMUST00000166320]
AlphaFold Q9QYL0
Predicted Effect possibly damaging
Transcript: ENSMUST00000038928
AA Change: T95A

PolyPhen 2 Score 0.955 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000039866
Gene: ENSMUSG00000038994
AA Change: T95A

DomainStartEndE-ValueType
Pfam:Linker_histone 35 106 5.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100551
SMART Domains Protein: ENSMUSP00000098118
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000103162
SMART Domains Protein: ENSMUSP00000099451
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000139855
SMART Domains Protein: ENSMUSP00000117637
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 1 140 2.1e-53 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000152042
SMART Domains Protein: ENSMUSP00000118455
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
Pfam:Sarcoglycan_2 6 100 5.9e-34 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000166320
SMART Domains Protein: ENSMUSP00000130617
Gene: ENSMUSG00000001508

DomainStartEndE-ValueType
CADG 27 131 2.14e-10 SMART
low complexity region 287 309 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.3%
  • 10x: 94.5%
  • 20x: 78.4%
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. The protein encoded is a replication-independent histone that is expressed in nuclei of late maturing spermatids. [provided by RefSeq, Nov 2015]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3 A C 11: 95,725,213 (GRCm39) L159W probably damaging Het
Abi3 A T 11: 95,725,214 (GRCm39) L159M probably damaging Het
Adam11 A C 11: 102,664,636 (GRCm39) I406L probably benign Het
Ager G T 17: 34,819,051 (GRCm39) V300L probably damaging Het
Ank3 C T 10: 69,822,660 (GRCm39) S1726L probably benign Het
Boc A G 16: 44,311,014 (GRCm39) I740T probably damaging Het
C8a T A 4: 104,711,129 (GRCm39) D178V probably damaging Het
Ces3a G A 8: 105,777,198 (GRCm39) V174M probably damaging Het
Cisd1 A T 10: 71,172,244 (GRCm39) W13R probably damaging Het
Commd8 A T 5: 72,320,107 (GRCm39) D111E probably benign Het
Ddx60 A T 8: 62,490,104 (GRCm39) D1691V probably damaging Het
Desi2 A G 1: 178,065,479 (GRCm39) Y15C probably damaging Het
Dnmt1 A G 9: 20,864,013 (GRCm39) V24A probably damaging Het
Dock10 G A 1: 80,538,640 (GRCm39) T968M probably benign Het
Dsel A T 1: 111,787,168 (GRCm39) F1122L probably damaging Het
Eml3 T C 19: 8,910,807 (GRCm39) F220L probably damaging Het
Entpd2 A C 2: 25,290,824 (GRCm39) N443H probably damaging Het
Epgn A G 5: 91,176,222 (GRCm39) N36S probably benign Het
Fsip2 G T 2: 82,814,785 (GRCm39) S3506I possibly damaging Het
Gprin3 T C 6: 59,331,771 (GRCm39) S179G probably benign Het
Grifin G T 5: 140,549,342 (GRCm39) H125N possibly damaging Het
Hmcn1 A G 1: 150,506,078 (GRCm39) V3816A probably damaging Het
Hspa14 A G 2: 3,499,207 (GRCm39) F196L probably benign Het
Ice1 T C 13: 70,754,620 (GRCm39) K489E probably benign Het
Jmjd6 C T 11: 116,730,682 (GRCm39) W117* probably null Het
Lrit2 G T 14: 36,794,192 (GRCm39) A419S probably benign Het
Mc3r T C 2: 172,091,092 (GRCm39) S105P probably benign Het
Mccc1 A G 3: 36,018,531 (GRCm39) V601A probably benign Het
Myo1f A G 17: 33,795,627 (GRCm39) D91G probably damaging Het
Myo1f G A 17: 33,799,259 (GRCm39) E255K possibly damaging Het
Necap1 T A 6: 122,858,503 (GRCm39) D115E probably benign Het
Or4b12 A T 2: 90,096,786 (GRCm39) probably null Het
Or4k15b G A 14: 50,272,444 (GRCm39) R139C probably benign Het
Or51b6 T A 7: 103,555,883 (GRCm39) M79K probably damaging Het
Papln A G 12: 83,818,652 (GRCm39) E78G probably null Het
Phldb3 T C 7: 24,326,147 (GRCm39) probably null Het
Pkd1l2 A G 8: 117,724,321 (GRCm39) I2394T probably damaging Het
Ppa2 A T 3: 133,036,200 (GRCm39) N118I probably damaging Het
Ppef2 A T 5: 92,398,388 (GRCm39) C43* probably null Het
Pramel51 A G 12: 88,143,111 (GRCm39) L169P probably damaging Het
Rab27a G A 9: 72,992,321 (GRCm39) probably null Het
Rabgap1l A T 1: 160,169,683 (GRCm39) F47I probably damaging Het
Rala A G 13: 18,067,746 (GRCm39) I95T probably damaging Het
Rgl2 A G 17: 34,151,691 (GRCm39) D245G probably benign Het
Rnf34 A T 5: 123,002,146 (GRCm39) T35S probably damaging Het
Ros1 C T 10: 52,057,894 (GRCm39) R51Q probably benign Het
Samd9l T C 6: 3,372,716 (GRCm39) D1515G possibly damaging Het
Scn7a T C 2: 66,505,870 (GRCm39) E1673G probably benign Het
Slc6a20a A C 9: 123,470,773 (GRCm39) probably null Het
Tdrd5 A T 1: 156,122,070 (GRCm39) S280T probably damaging Het
Tent2 A T 13: 93,312,246 (GRCm39) C180* probably null Het
Tie1 T C 4: 118,332,800 (GRCm39) I911V possibly damaging Het
Vipas39 G A 12: 87,298,581 (GRCm39) R194* probably null Het
Ybx3 A C 6: 131,345,451 (GRCm39) N307K possibly damaging Het
Ylpm1 A T 12: 85,088,899 (GRCm39) H1216L probably damaging Het
Other mutations in H1f9
AlleleSourceChrCoordTypePredicted EffectPPH Score
PIT4651001:H1f9 UTSW 11 94,859,142 (GRCm39) missense probably benign
R1993:H1f9 UTSW 11 94,858,858 (GRCm39) missense probably damaging 0.96
R4621:H1f9 UTSW 11 94,858,986 (GRCm39) missense probably damaging 0.99
R4836:H1f9 UTSW 11 94,858,843 (GRCm39) nonsense probably null
R5015:H1f9 UTSW 11 94,858,928 (GRCm39) missense probably damaging 0.98
R5494:H1f9 UTSW 11 94,858,843 (GRCm39) missense probably benign 0.16
R6709:H1f9 UTSW 11 94,858,772 (GRCm39) missense possibly damaging 0.73
R7422:H1f9 UTSW 11 94,859,184 (GRCm39) missense possibly damaging 0.53
R9086:H1f9 UTSW 11 94,859,083 (GRCm39) missense possibly damaging 0.75
Predicted Primers PCR Primer
(F):5'- ATCAGTACCCAAAGCCTGCG -3'
(R):5'- ACCCTACGGACTCCTTTGAAAAG -3'

Sequencing Primer
(F):5'- GAAGCCCACCATGTCGTATGTG -3'
(R):5'- TACGGACTCCTTTGAAAAGCTGGTC -3'
Posted On 2017-02-10