Incidental Mutation 'R6280:Hira'
ID 507932
Institutional Source Beutler Lab
Gene Symbol Hira
Ensembl Gene ENSMUSG00000022702
Gene Name histone cell cycle regulator
Synonyms Tuple1, Gm15797, D16Ertd95e
MMRRC Submission 044450-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6280 (G1)
Quality Score 225.009
Status Validated
Chromosome 16
Chromosomal Location 18695787-18789059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18729457 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Aspartic acid at position 109 (N109D)
Ref Sequence ENSEMBL: ENSMUSP00000112614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000120532] [ENSMUST00000128321] [ENSMUST00000144609] [ENSMUST00000153397] [ENSMUST00000190050]
AlphaFold Q61666
Predicted Effect probably damaging
Transcript: ENSMUST00000004222
AA Change: N153D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: N153D

DomainStartEndE-ValueType
WD40 1 44 1.56e-1 SMART
WD40 59 98 9.67e-7 SMART
WD40 120 159 3.58e-10 SMART
WD40 163 202 7.22e-6 SMART
WD40 212 254 9.17e1 SMART
WD40 257 313 1.54e0 SMART
WD40 319 356 2.86e0 SMART
low complexity region 405 412 N/A INTRINSIC
Pfam:HIRA_B 448 470 1.9e-10 PFAM
low complexity region 493 507 N/A INTRINSIC
low complexity region 540 556 N/A INTRINSIC
low complexity region 600 614 N/A INTRINSIC
low complexity region 626 641 N/A INTRINSIC
Pfam:Hira 761 960 2.9e-61 PFAM
low complexity region 979 989 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000120532
AA Change: N109D

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702
AA Change: N109D

DomainStartEndE-ValueType
WD40 15 54 9.67e-7 SMART
WD40 76 115 3.58e-10 SMART
WD40 119 158 7.22e-6 SMART
WD40 168 210 9.17e1 SMART
WD40 213 269 1.54e0 SMART
WD40 275 312 2.86e0 SMART
low complexity region 361 368 N/A INTRINSIC
Pfam:HIRA_B 404 427 1.9e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000128321
Predicted Effect probably benign
Transcript: ENSMUST00000144609
Predicted Effect probably benign
Transcript: ENSMUST00000153397
SMART Domains Protein: ENSMUSP00000117944
Gene: ENSMUSG00000022702

DomainStartEndE-ValueType
Blast:WD40 1 40 1e-18 BLAST
SCOP:d1erja_ 7 33 3e-3 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000190050
SMART Domains Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
Meta Mutation Damage Score 0.6709 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 95.9%
Validation Efficiency 100% (75/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a histone chaperone that preferentially places the variant histone H3.3 in nucleosomes. Orthologs of this gene in yeast, flies, and plants are necessary for the formation of transcriptionally silent heterochomatin. This gene plays an important role in the formation of the senescence-associated heterochromatin foci. These foci likely mediate the irreversible cell cycle changes that occur in senescent cells. It is considered the primary candidate gene in some haploinsufficiency syndromes such as DiGeorge syndrome, and insufficient production of the gene may disrupt normal embryonic development. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygotes for a targeted null mutation exhibit disrupted gastrulation, malformations of axial and paraxial mesoendoderm, abnormal placentas, failure of cardiac development, and lethality by embryonic day 11. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 76 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 C T 1: 71,311,619 (GRCm39) D1930N probably benign Het
Adam8 A G 7: 139,564,720 (GRCm39) L667S probably damaging Het
Adcy4 A T 14: 56,016,500 (GRCm39) I317N probably damaging Het
Agpat3 A G 10: 78,120,872 (GRCm39) F102S probably damaging Het
Apbb2 A T 5: 66,522,325 (GRCm39) W443R probably damaging Het
BC049715 T A 6: 136,817,229 (GRCm39) Y156* probably null Het
Bpifc C T 10: 85,813,576 (GRCm39) V323I probably benign Het
Camp T G 9: 109,676,577 (GRCm39) I149L probably benign Het
Cfap20dc T G 14: 8,473,414 (GRCm38) probably null Het
Cibar2 A G 8: 120,898,858 (GRCm39) I94T possibly damaging Het
Cnih1 A G 14: 47,025,634 (GRCm39) probably null Het
Col18a1 A T 10: 76,948,323 (GRCm39) probably benign Het
Dsg4 A T 18: 20,599,724 (GRCm39) D780V probably damaging Het
Dync1i1 G A 6: 5,972,084 (GRCm39) V442I probably benign Het
Fam83g G T 11: 61,594,008 (GRCm39) S514I probably benign Het
Fbxo7 A G 10: 85,864,969 (GRCm39) N93D probably benign Het
Fgf20 G T 8: 40,734,153 (GRCm39) S76* probably null Het
Foxi1 A G 11: 34,157,972 (GRCm39) F18L probably damaging Het
Fxr1 G A 3: 34,100,401 (GRCm39) probably benign Het
Gon4l T A 3: 88,798,195 (GRCm39) L800H probably damaging Het
Gpn3 T A 5: 122,512,022 (GRCm39) S33T probably benign Het
Gria4 T C 9: 4,456,072 (GRCm39) M743V probably damaging Het
Hsd3b3 A G 3: 98,660,621 (GRCm39) probably null Het
Hsf2 T G 10: 57,387,591 (GRCm39) S370A probably benign Het
Htt T A 5: 35,028,103 (GRCm39) D1786E probably benign Het
Ifit1bl2 T A 19: 34,597,534 (GRCm39) R27S possibly damaging Het
Il17rb G A 14: 29,724,928 (GRCm39) A186V probably benign Het
Irak4 G T 15: 94,449,691 (GRCm39) E57* probably null Het
Kcnh2 T A 5: 24,536,921 (GRCm39) H221L probably benign Het
Kdm2b T C 5: 123,016,687 (GRCm39) N1149D probably damaging Het
Kif26a A G 12: 112,141,303 (GRCm39) H702R probably damaging Het
Kmt2e T C 5: 23,704,514 (GRCm39) S1236P possibly damaging Het
Krt77 T A 15: 101,773,910 (GRCm39) D248V probably damaging Het
Lgals3bp T C 11: 118,284,106 (GRCm39) N52S possibly damaging Het
Lhfpl6 T C 3: 53,167,935 (GRCm39) Y170H probably damaging Het
Lpin2 A G 17: 71,539,243 (GRCm39) probably benign Het
Lrig3 T C 10: 125,846,848 (GRCm39) I872T probably benign Het
Lrit3 T C 3: 129,582,412 (GRCm39) E525G probably damaging Het
Lrp1 T C 10: 127,425,453 (GRCm39) T726A probably benign Het
Mep1a A T 17: 43,813,283 (GRCm39) N46K probably damaging Het
Muc16 C A 9: 18,490,613 (GRCm39) probably null Het
N4bp1 A C 8: 87,579,794 (GRCm39) N669K possibly damaging Het
Nelfcd A G 2: 174,257,739 (GRCm39) D26G probably benign Het
Neu4 G A 1: 93,952,873 (GRCm39) S414N probably damaging Het
Nudt9 A G 5: 104,212,935 (GRCm39) D336G probably benign Het
Obscn C A 11: 58,954,509 (GRCm39) G3691V possibly damaging Het
Or4c52 A C 2: 89,845,393 (GRCm39) I40L possibly damaging Het
Or5t17 A G 2: 86,832,364 (GRCm39) N17S probably damaging Het
Pdgfd T A 9: 6,288,627 (GRCm39) S94T probably benign Het
Picalm A G 7: 89,826,770 (GRCm39) H290R probably benign Het
Pou2f3 A T 9: 43,050,634 (GRCm39) L242Q probably damaging Het
Pou2f3 G T 9: 43,050,635 (GRCm39) L242M probably damaging Het
Prkd3 C T 17: 79,289,360 (GRCm39) G187D probably damaging Het
Pwp1 A G 10: 85,710,326 (GRCm39) S49G probably damaging Het
Ralgapa2 A G 2: 146,184,129 (GRCm39) L1626P probably damaging Het
Resf1 T C 6: 149,228,555 (GRCm39) S534P probably damaging Het
Rin2 A G 2: 145,702,939 (GRCm39) Y545C probably damaging Het
Rwdd4a A G 8: 47,995,832 (GRCm39) T71A probably benign Het
Senp7 T C 16: 55,982,738 (GRCm39) F504L possibly damaging Het
Slc12a6 A G 2: 112,167,703 (GRCm39) T231A probably damaging Het
Slc13a2 CGTTATCTGT CGT 11: 78,294,306 (GRCm39) probably benign Het
Slc34a1 A G 13: 24,006,377 (GRCm39) S468G probably benign Het
Slc4a10 A G 2: 62,112,310 (GRCm39) N697S probably benign Het
Spint1 T A 2: 119,075,759 (GRCm39) V194E possibly damaging Het
Sptlc2 A T 12: 87,434,905 (GRCm39) M14K probably benign Het
Stard9 A G 2: 120,531,608 (GRCm39) K2622E probably benign Het
Tbc1d5 T C 17: 51,089,338 (GRCm39) N614S probably benign Het
Tdpoz2 A T 3: 93,559,190 (GRCm39) C261S probably benign Het
Tmem150b A T 7: 4,727,373 (GRCm39) I44N probably benign Het
Ttn A G 2: 76,608,502 (GRCm39) L17807P probably damaging Het
Vcan G A 13: 89,873,492 (GRCm39) R121W probably damaging Het
Vmn2r15 T A 5: 109,441,291 (GRCm39) H189L possibly damaging Het
Vmn2r19 A G 6: 123,313,212 (GRCm39) S761G probably benign Het
Wdr11 A T 7: 129,200,830 (GRCm39) K34* probably null Het
Zfp120 A T 2: 149,959,964 (GRCm39) S141R possibly damaging Het
Zfp462 C G 4: 55,010,253 (GRCm39) P740A probably benign Het
Other mutations in Hira
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Hira APN 16 18,765,090 (GRCm39) splice site probably benign
IGL01285:Hira APN 16 18,730,930 (GRCm39) missense probably benign 0.01
F5770:Hira UTSW 16 18,713,571 (GRCm39) missense probably damaging 1.00
IGL02796:Hira UTSW 16 18,744,404 (GRCm39) missense probably benign 0.01
R0123:Hira UTSW 16 18,774,921 (GRCm39) missense probably benign 0.45
R0225:Hira UTSW 16 18,774,921 (GRCm39) missense probably benign 0.45
R0606:Hira UTSW 16 18,753,797 (GRCm39) missense probably benign 0.00
R1017:Hira UTSW 16 18,718,097 (GRCm39) splice site probably null
R1456:Hira UTSW 16 18,744,413 (GRCm39) missense probably benign 0.02
R1479:Hira UTSW 16 18,715,219 (GRCm39) missense probably damaging 1.00
R1731:Hira UTSW 16 18,751,764 (GRCm39) missense probably benign 0.01
R1830:Hira UTSW 16 18,766,164 (GRCm39) missense probably damaging 1.00
R2039:Hira UTSW 16 18,770,451 (GRCm39) missense probably benign 0.05
R4328:Hira UTSW 16 18,715,362 (GRCm39) missense probably benign 0.01
R4401:Hira UTSW 16 18,744,470 (GRCm39) missense probably damaging 1.00
R4423:Hira UTSW 16 18,774,952 (GRCm39) missense possibly damaging 0.80
R4634:Hira UTSW 16 18,765,150 (GRCm39) missense probably damaging 0.98
R4728:Hira UTSW 16 18,741,654 (GRCm39) missense probably damaging 1.00
R5050:Hira UTSW 16 18,744,609 (GRCm39) missense possibly damaging 0.75
R5139:Hira UTSW 16 18,773,508 (GRCm39) missense probably damaging 1.00
R5201:Hira UTSW 16 18,770,865 (GRCm39) missense probably damaging 0.98
R5327:Hira UTSW 16 18,773,508 (GRCm39) missense probably damaging 1.00
R5483:Hira UTSW 16 18,788,290 (GRCm39) missense possibly damaging 0.89
R5573:Hira UTSW 16 18,735,349 (GRCm39) missense probably damaging 1.00
R5626:Hira UTSW 16 18,746,262 (GRCm39) missense probably damaging 0.97
R5768:Hira UTSW 16 18,753,768 (GRCm39) splice site probably benign
R5952:Hira UTSW 16 18,753,815 (GRCm39) missense possibly damaging 0.83
R6128:Hira UTSW 16 18,751,727 (GRCm39) missense probably benign 0.08
R7116:Hira UTSW 16 18,730,864 (GRCm39) missense probably damaging 1.00
R7363:Hira UTSW 16 18,716,532 (GRCm39) missense possibly damaging 0.64
R7497:Hira UTSW 16 18,770,829 (GRCm39) missense probably damaging 0.99
R8059:Hira UTSW 16 18,730,901 (GRCm39) missense probably damaging 0.97
R8079:Hira UTSW 16 18,744,507 (GRCm39) missense probably benign 0.34
R8167:Hira UTSW 16 18,715,259 (GRCm39) missense probably benign
R8199:Hira UTSW 16 18,766,194 (GRCm39) missense probably benign
R8256:Hira UTSW 16 18,744,443 (GRCm39) missense probably benign 0.00
R8404:Hira UTSW 16 18,770,912 (GRCm39) missense possibly damaging 0.75
R8877:Hira UTSW 16 18,770,854 (GRCm39) missense probably benign 0.08
R8928:Hira UTSW 16 18,716,537 (GRCm39) missense probably benign
R8984:Hira UTSW 16 18,746,261 (GRCm39) missense possibly damaging 0.78
R9391:Hira UTSW 16 18,767,892 (GRCm39) missense possibly damaging 0.92
R9418:Hira UTSW 16 18,770,025 (GRCm39) missense probably benign 0.00
R9476:Hira UTSW 16 18,772,789 (GRCm39) missense probably damaging 1.00
R9510:Hira UTSW 16 18,772,789 (GRCm39) missense probably damaging 1.00
V7581:Hira UTSW 16 18,713,571 (GRCm39) missense probably damaging 1.00
V7582:Hira UTSW 16 18,713,571 (GRCm39) missense probably damaging 1.00
Z1177:Hira UTSW 16 18,730,899 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CACTGTGGCCAATTTAGTGC -3'
(R):5'- TGACCACCTAACTTTCTGTGAC -3'

Sequencing Primer
(F):5'- CTCATGAGTAAAAGCTGTAGTCAG -3'
(R):5'- TGTGACTAAGATTAAAAAGACAGACC -3'
Posted On 2018-03-15