Incidental Mutation 'IGL01285:Hira'
ID 72679
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hira
Ensembl Gene ENSMUSG00000022702
Gene Name histone cell cycle regulator
Synonyms Tuple1, Gm15797, D16Ertd95e
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL01285
Quality Score
Status
Chromosome 16
Chromosomal Location 18695787-18789059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18730930 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 210 (T210A)
Ref Sequence ENSEMBL: ENSMUSP00000004222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000120532] [ENSMUST00000128321] [ENSMUST00000144609] [ENSMUST00000153397] [ENSMUST00000190050]
AlphaFold Q61666
Predicted Effect probably benign
Transcript: ENSMUST00000004222
AA Change: T210A

PolyPhen 2 Score 0.009 (Sensitivity: 0.96; Specificity: 0.77)
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: T210A

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: ENSMUST00000120532
AA Change: T166A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702
AA Change: T166A

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
Coding Region Coverage
Validation Efficiency
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,610 (GRCm39) N599S probably benign Het
Adam6a A T 12: 113,509,893 (GRCm39) *755Y probably null Het
Adgrb3 G T 1: 25,132,868 (GRCm39) T1166K probably benign Het
Ano1 T C 7: 144,198,479 (GRCm39) Y345C probably benign Het
Ano1 A G 7: 144,149,275 (GRCm39) V862A probably damaging Het
Asap2 C T 12: 21,279,264 (GRCm39) A382V probably damaging Het
Asb18 A G 1: 89,923,963 (GRCm39) V100A probably benign Het
Bdnf G A 2: 109,553,931 (GRCm39) A102T probably benign Het
Ccser2 G A 14: 36,660,626 (GRCm39) T509M probably damaging Het
Cfap47 A G X: 78,532,764 (GRCm39) I767T possibly damaging Het
Des G A 1: 75,339,227 (GRCm39) A251T probably benign Het
Dmd C T X: 84,153,590 (GRCm39) Q3224* probably null Het
Endog G T 2: 30,061,975 (GRCm39) probably null Het
Ggt7 A G 2: 155,342,691 (GRCm39) V269A probably damaging Het
Gucy2c A G 6: 136,686,739 (GRCm39) F808S probably damaging Het
Ifitm5 C A 7: 140,530,076 (GRCm39) R16L probably benign Het
Igdcc4 T C 9: 65,031,273 (GRCm39) C404R probably damaging Het
Ints7 G A 1: 191,347,890 (GRCm39) R754H probably benign Het
Irf9 A G 14: 55,845,058 (GRCm39) E258G probably damaging Het
Megf11 T C 9: 64,567,728 (GRCm39) C406R probably damaging Het
Olfml1 A G 7: 107,189,364 (GRCm39) N143S possibly damaging Het
Or4m1 A G 14: 50,557,713 (GRCm39) F193S possibly damaging Het
Or6c66b T A 10: 129,376,711 (GRCm39) F102I probably benign Het
Or7g30 A G 9: 19,352,266 (GRCm39) D19G probably benign Het
Otof G T 5: 30,562,527 (GRCm39) Q254K probably damaging Het
Pate7 A T 9: 35,688,044 (GRCm39) N65K possibly damaging Het
Plcd3 A G 11: 102,968,696 (GRCm39) F332L probably benign Het
Plxnc1 T C 10: 94,635,230 (GRCm39) D1332G probably damaging Het
Rnasel A T 1: 153,634,130 (GRCm39) D521V probably benign Het
Sema5a T A 15: 32,575,143 (GRCm39) V417D possibly damaging Het
Senp6 G A 9: 80,044,000 (GRCm39) R877Q probably benign Het
Shroom2 A T X: 151,442,353 (GRCm39) D937E probably damaging Het
Slc35a3 A G 3: 116,488,262 (GRCm39) S142P probably damaging Het
Srpx A T X: 9,905,298 (GRCm39) V398E probably damaging Het
Stk10 A T 11: 32,560,653 (GRCm39) K669N possibly damaging Het
Sumf2 A G 5: 129,878,811 (GRCm39) D49G probably damaging Het
Syde1 T A 10: 78,424,721 (GRCm39) E370D probably damaging Het
Tas2r115 G T 6: 132,714,641 (GRCm39) S103R probably damaging Het
Top2a G A 11: 98,896,985 (GRCm39) probably benign Het
Ttn T A 2: 76,550,842 (GRCm39) T23190S probably damaging Het
Ttyh3 C A 5: 140,615,167 (GRCm39) C407F probably damaging Het
Vmn2r27 G T 6: 124,169,370 (GRCm39) H587N possibly damaging Het
Vmn2r74 A G 7: 85,606,692 (GRCm39) I218T possibly damaging Het
Vsig10 A G 5: 117,462,954 (GRCm39) N60S probably benign Het
Zc3h7a A G 16: 10,956,979 (GRCm39) S877P probably damaging Het
Zfp979 G T 4: 147,699,853 (GRCm39) T29N probably damaging Het
Znfx1 G A 2: 166,880,615 (GRCm39) R390C possibly damaging Het
Other mutations in Hira
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00560:Hira APN 16 18,765,090 (GRCm39) splice site probably benign
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
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
Posted On 2013-10-07