Incidental Mutation 'R5327:Hira'
ID 422084
Institutional Source Beutler Lab
Gene Symbol Hira
Ensembl Gene ENSMUSG00000022702
Gene Name histone cell cycle regulator
Synonyms Tuple1, Gm15797, D16Ertd95e
MMRRC Submission 042910-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R5327 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 18695787-18789059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 18773508 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 943 (Y943H)
Ref Sequence ENSEMBL: ENSMUSP00000004222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000190050]
AlphaFold Q61666
Predicted Effect probably damaging
Transcript: ENSMUST00000004222
AA Change: Y943H

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: Y943H

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 0.2793 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency 100% (101/101)
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: 94 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
AA986860 A G 1: 130,668,740 (GRCm39) S36G probably damaging Het
Aarsd1 T C 11: 101,301,203 (GRCm39) N280D probably benign Het
Abca2 T A 2: 25,335,686 (GRCm39) M2099K probably damaging Het
Abcb5 T A 12: 118,875,278 (GRCm39) E631D probably benign Het
Acss2 T A 2: 155,415,149 (GRCm39) L682Q probably null Het
Adamts14 G A 10: 61,034,267 (GRCm39) P1207L probably benign Het
Adora1 G A 1: 134,130,748 (GRCm39) R308* probably null Het
Arcn1 A T 9: 44,668,444 (GRCm39) V264E probably benign Het
B3galt1 G A 2: 67,949,112 (GRCm39) G276S probably damaging Het
Bms1 A T 6: 118,382,179 (GRCm39) M453K possibly damaging Het
Bnip3l T C 14: 67,225,180 (GRCm39) Y218C probably damaging Het
Cacna2d2 A G 9: 107,390,805 (GRCm39) E379G probably null Het
Cacng6 G A 7: 3,483,376 (GRCm39) G235R probably damaging Het
Capn8 A T 1: 182,456,169 (GRCm39) T640S probably benign Het
Ccdc106 T C 7: 5,063,159 (GRCm39) probably benign Het
Ccdc33 A T 9: 57,993,860 (GRCm39) N95K probably benign Het
Celsr3 T A 9: 108,719,907 (GRCm39) probably benign Het
Cemip A T 7: 83,604,509 (GRCm39) N844K probably damaging Het
Chrdl2 A T 7: 99,677,948 (GRCm39) T284S probably damaging Het
Ckm A G 7: 19,154,090 (GRCm39) Y279C probably damaging Het
Clvs1 A T 4: 9,424,261 (GRCm39) I236F probably damaging Het
Col9a1 T C 1: 24,234,620 (GRCm39) probably null Het
Csmd1 T C 8: 17,266,728 (GRCm39) E66G possibly damaging Het
Ctdsp2 A G 10: 126,831,923 (GRCm39) D26G probably damaging Het
Ctsll3 C A 13: 60,946,721 (GRCm39) probably null Het
Cyp2d12 A T 15: 82,439,423 (GRCm39) M26L probably benign Het
Cyp8b1 C T 9: 121,743,950 (GRCm39) D461N probably damaging Het
Dbt A T 3: 116,322,220 (GRCm39) probably benign Het
Dnah7c A G 1: 46,704,728 (GRCm39) D2247G probably benign Het
Dsg1c A G 18: 20,400,994 (GRCm39) I166V possibly damaging Het
Duoxa1 T A 2: 122,134,361 (GRCm39) E252D probably damaging Het
Ezr T A 17: 7,020,448 (GRCm39) K211M probably damaging Het
Faap100 T A 11: 120,268,458 (GRCm39) E105V possibly damaging Het
Fahd2a T C 2: 127,283,878 (GRCm39) D54G possibly damaging Het
Fbxo9 A T 9: 78,003,146 (GRCm39) probably null Het
Fndc1 A G 17: 7,991,540 (GRCm39) S719P unknown Het
Gas7 G T 11: 67,552,916 (GRCm39) G159C probably damaging Het
Gba2 T C 4: 43,574,063 (GRCm39) D130G probably damaging Het
Gli3 T G 13: 15,723,092 (GRCm39) S78A probably damaging Het
Gtpbp6 A G 5: 110,254,770 (GRCm39) F101S probably damaging Het
Gzme G A 14: 56,355,224 (GRCm39) H236Y probably benign Het
Hmbox1 G A 14: 65,134,144 (GRCm39) S152L possibly damaging Het
Ibtk A G 9: 85,619,519 (GRCm39) probably null Het
Jade1 T C 3: 41,568,413 (GRCm39) I827T possibly damaging Het
Jakmip3 A T 7: 138,627,164 (GRCm39) E389D possibly damaging Het
Klhdc8b A T 9: 108,326,241 (GRCm39) probably benign Het
Lama2 T C 10: 27,014,942 (GRCm39) T1589A probably benign Het
Lbx2 A C 6: 83,064,784 (GRCm39) K107T probably damaging Het
Ldha A G 7: 46,503,522 (GRCm39) M259V probably benign Het
Lrrtm4 A G 6: 79,999,620 (GRCm39) K344R probably damaging Het
Ltb A T 17: 35,414,935 (GRCm39) E245V probably damaging Het
Macf1 GCCCCC GCCCCCC 4: 123,244,784 (GRCm39) probably null Het
Map3k13 T A 16: 21,740,397 (GRCm39) S575T possibly damaging Het
Mcpt2 A T 14: 56,280,833 (GRCm39) I74F probably damaging Het
Mpeg1 T A 19: 12,439,013 (GRCm39) V157D probably damaging Het
Mrpl21 A T 19: 3,337,009 (GRCm39) probably null Het
Nagpa T C 16: 5,017,877 (GRCm39) T99A possibly damaging Het
Nphs1 A T 7: 30,163,250 (GRCm39) I469F probably benign Het
Nyap2 A G 1: 81,169,756 (GRCm39) E171G possibly damaging Het
Oas1e A G 5: 120,930,006 (GRCm39) Y171H probably damaging Het
Or10ag59 T A 2: 87,406,043 (GRCm39) V205D probably damaging Het
Or2y1f T C 11: 49,184,493 (GRCm39) L115P probably damaging Het
Or5ac23 T C 16: 59,149,461 (GRCm39) K137R probably benign Het
Or5h26 T C 16: 58,987,983 (GRCm39) I174M possibly damaging Het
Otud7b C A 3: 96,063,055 (GRCm39) Q765K probably benign Het
Pdzd7 A G 19: 45,017,216 (GRCm39) V851A probably benign Het
Pi4ka T G 16: 17,143,277 (GRCm39) K794T probably damaging Het
Pkhd1l1 T A 15: 44,410,258 (GRCm39) N2588K probably damaging Het
Pla2g6 A T 15: 79,186,837 (GRCm39) M471K probably benign Het
Plagl2 T C 2: 153,077,759 (GRCm39) H74R possibly damaging Het
Prf1 T A 10: 61,136,037 (GRCm39) N104K probably benign Het
Ptprf A T 4: 118,093,586 (GRCm39) I358N probably damaging Het
Rcsd1 A G 1: 165,482,872 (GRCm39) probably null Het
Rev1 G A 1: 38,147,532 (GRCm39) R3* probably null Het
Rp1 T C 1: 4,419,583 (GRCm39) probably null Het
Rrp12 G A 19: 41,881,035 (GRCm39) T132I probably damaging Het
Sema3a T C 5: 13,649,357 (GRCm39) V702A probably benign Het
Serpinb12 A G 1: 106,884,174 (GRCm39) N307D probably damaging Het
Slc35d1 A G 4: 103,070,383 (GRCm39) L103P probably damaging Het
Smyd4 T C 11: 75,281,765 (GRCm39) C413R probably damaging Het
Stab1 G A 14: 30,883,793 (GRCm39) Q255* probably null Het
Synpo T A 18: 60,736,918 (GRCm39) I343F possibly damaging Het
Tcirg1 A G 19: 3,952,342 (GRCm39) probably null Het
Tmem132c A G 5: 127,640,816 (GRCm39) T996A possibly damaging Het
Trim10 A G 17: 37,181,081 (GRCm39) E104G probably damaging Het
Trpc1 T C 9: 95,603,524 (GRCm39) probably null Het
Tspo2 A T 17: 48,756,887 (GRCm39) probably benign Het
Ugt2a3 A T 5: 87,479,174 (GRCm39) I258N probably damaging Het
Usp34 T C 11: 23,418,846 (GRCm39) L2998P probably damaging Het
Vmn1r45 A C 6: 89,910,123 (GRCm39) D162E possibly damaging Het
Vmn2r117 A T 17: 23,696,848 (GRCm39) Y186* probably null Het
Vmn2r67 A G 7: 84,785,698 (GRCm39) F769S probably damaging Het
Zbtb17 A G 4: 141,192,942 (GRCm39) I514V probably benign Het
Zfp329 A C 7: 12,545,421 (GRCm39) D34E 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
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'- CACCATTGTAGCACACCCTG -3'
(R):5'- CAGAATACCTTGCTCCCTGC -3'

Sequencing Primer
(F):5'- GTAGCACACCCTGTCTTACTGTG -3'
(R):5'- TGCCAGGGGAGCTGCTAAG -3'
Posted On 2016-08-04