Incidental Mutation 'R4423:Hira'
ID 327234
Institutional Source Beutler Lab
Gene Symbol Hira
Ensembl Gene ENSMUSG00000022702
Gene Name histone cell cycle regulator
Synonyms Tuple1, Gm15797, D16Ertd95e
MMRRC Submission 041143-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R4423 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 18695787-18789059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18774952 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 959 (D959G)
Ref Sequence ENSEMBL: ENSMUSP00000004222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000190050]
AlphaFold Q61666
Predicted Effect possibly damaging
Transcript: ENSMUST00000004222
AA Change: D959G

PolyPhen 2 Score 0.796 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: D959G

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 benign
Transcript: ENSMUST00000190050
SMART Domains Protein: ENSMUSP00000141101
Gene: ENSMUSG00000099908

DomainStartEndE-ValueType
low complexity region 26 37 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000232419
Meta Mutation Damage Score 0.1995 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 100% (57/57)
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik C A 10: 100,441,495 (GRCm39) P100Q probably damaging Het
A630010A05Rik A G 16: 14,436,577 (GRCm39) Y210C probably benign Het
Arfgap1 C A 2: 180,622,869 (GRCm39) D327E probably benign Het
Arhgef9 T G X: 94,144,670 (GRCm39) I131L possibly damaging Het
Asgr2 G A 11: 69,996,211 (GRCm39) V218I probably benign Het
Capns2 T A 8: 93,628,252 (GRCm39) I47N possibly damaging Het
Cep44 G A 8: 56,991,652 (GRCm39) P317S probably benign Het
Cfap144 A T 11: 58,687,357 (GRCm39) probably null Het
Cnot10 T A 9: 114,446,988 (GRCm39) I363F probably damaging Het
Coch T A 12: 51,644,932 (GRCm39) probably null Het
Dnah1 C T 14: 31,006,718 (GRCm39) G2199D probably benign Het
Dock9 A G 14: 121,799,465 (GRCm39) probably null Het
Dst T C 1: 34,227,474 (GRCm39) I1689T possibly damaging Het
Eif2ak4 T C 2: 118,269,547 (GRCm39) F762S probably benign Het
Eif2b5 A G 16: 20,320,469 (GRCm39) D195G probably benign Het
Elmo1 C G 13: 20,784,382 (GRCm39) Y646* probably null Het
Far1 T A 7: 113,139,805 (GRCm39) S84R probably damaging Het
Fhod1 T C 8: 106,063,983 (GRCm39) probably benign Het
Galnt15 A T 14: 31,780,226 (GRCm39) I508F possibly damaging Het
Grik1 T C 16: 87,720,088 (GRCm39) T745A probably benign Het
Hsf5 T C 11: 87,522,460 (GRCm39) L351P probably damaging Het
Icosl C T 10: 77,907,707 (GRCm39) T89I possibly damaging Het
Iws1 T A 18: 32,216,503 (GRCm39) N414K probably damaging Het
Kif1b A G 4: 149,298,562 (GRCm39) S1035P probably damaging Het
Lcp2 G T 11: 34,028,226 (GRCm39) probably benign Het
Map4 C T 9: 109,896,662 (GRCm39) T631I probably damaging Het
Nepn T A 10: 52,267,911 (GRCm39) I59N probably damaging Het
Nin T A 12: 70,089,752 (GRCm39) K1221M probably damaging Het
Nup155 A G 15: 8,150,948 (GRCm39) T333A probably damaging Het
Or10d4c A G 9: 39,558,412 (GRCm39) Y130C probably damaging Het
Or52h9 T C 7: 104,202,552 (GRCm39) V142A probably benign Het
Or8b43 A G 9: 38,360,662 (GRCm39) T165A probably benign Het
Plod2 T C 9: 92,484,042 (GRCm39) L502S probably benign Het
Pnpt1 A G 11: 29,103,375 (GRCm39) probably null Het
Ppat A G 5: 77,063,061 (GRCm39) W517R probably damaging Het
Ppp1r16b C T 2: 158,599,174 (GRCm39) T382I probably benign Het
Prkcq T C 2: 11,260,980 (GRCm39) I344T possibly damaging Het
Rbl1 A G 2: 157,010,875 (GRCm39) probably benign Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sec62 T C 3: 30,868,431 (GRCm39) M220T unknown Het
Shprh T G 10: 11,062,262 (GRCm39) V1219G possibly damaging Het
Slc25a46 T C 18: 31,742,651 (GRCm39) T72A probably benign Het
Slc4a2 G A 5: 24,644,846 (GRCm39) W1040* probably null Het
Slc5a1 T C 5: 33,312,018 (GRCm39) V470A possibly damaging Het
Spmap2l T C 5: 77,202,383 (GRCm39) I268T possibly damaging Het
Syvn1 C T 19: 6,099,951 (GRCm39) probably benign Het
Tex47 G T 5: 7,355,364 (GRCm39) A182S probably benign Het
Top2a A G 11: 98,892,231 (GRCm39) I1077T probably benign Het
Tpcn1 T C 5: 120,680,583 (GRCm39) K549R probably damaging Het
Trpm2 T C 10: 77,770,902 (GRCm39) D678G probably benign Het
Tut7 T C 13: 59,969,863 (GRCm39) K11E probably damaging Het
Ube3a T C 7: 58,925,861 (GRCm39) I234T probably benign Het
Vmn2r57 T C 7: 41,076,064 (GRCm39) K483E probably damaging Het
Wnk1 T A 6: 119,903,387 (GRCm39) S2111C probably damaging 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
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
R6280:Hira UTSW 16 18,729,457 (GRCm39) missense probably damaging 1.00
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'- ATTCATGGTTCTCTAGGCCTCAAG -3'
(R):5'- TGACACCGTGGTTCAGGTAG -3'

Sequencing Primer
(F):5'- TGGTTCTCTAGGCCTCAAGTAGAAAG -3'
(R):5'- TAGGCAGTTGGATACCTCATGAC -3'
Posted On 2015-07-07