Incidental Mutation 'R1456:Hira'
ID 161821
Institutional Source Beutler Lab
Gene Symbol Hira
Ensembl Gene ENSMUSG00000022702
Gene Name histone cell cycle regulator
Synonyms Tuple1, Gm15797, D16Ertd95e
MMRRC Submission 039511-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R1456 (G1)
Quality Score 225
Status Validated
Chromosome 16
Chromosomal Location 18695787-18789059 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 18744413 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Alanine at position 377 (S377A)
Ref Sequence ENSEMBL: ENSMUSP00000004222 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000004222] [ENSMUST00000120532] [ENSMUST00000153397] [ENSMUST00000190050]
AlphaFold Q61666
Predicted Effect probably benign
Transcript: ENSMUST00000004222
AA Change: S377A

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: S377A

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: S333A

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702
AA Change: S333A

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 noncoding transcript
Transcript: ENSMUST00000131444
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140748
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 0.0701 question?
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.1%
  • 20x: 88.9%
Validation Efficiency 98% (90/92)
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: 88 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921504E06Rik C T 2: 19,485,731 (GRCm39) probably null Het
4932414N04Rik A T 2: 68,546,558 (GRCm39) E80V possibly damaging Het
Alkbh3 A G 2: 93,831,764 (GRCm39) probably null Het
Ankar A T 1: 72,704,277 (GRCm39) Y664N probably benign Het
Arhgap18 T C 10: 26,792,436 (GRCm39) I629T probably benign Het
Arhgef28 C T 13: 98,211,510 (GRCm39) E158K probably benign Het
Asxl2 C T 12: 3,551,872 (GRCm39) H1205Y possibly damaging Het
Birc6 A G 17: 74,916,285 (GRCm39) I427V probably benign Het
Camk4 A G 18: 33,262,896 (GRCm39) probably benign Het
Ccdc178 A T 18: 22,283,481 (GRCm39) D16E possibly damaging Het
Cct6b G T 11: 82,644,446 (GRCm39) probably benign Het
Ccz1 A G 5: 143,947,836 (GRCm39) probably benign Het
Cdh23 T C 10: 60,322,899 (GRCm39) N335S possibly damaging Het
Cemip T A 7: 83,647,718 (GRCm39) S121C possibly damaging Het
Cers1 A G 8: 70,783,838 (GRCm39) E262G probably damaging Het
Clec11a G T 7: 43,955,874 (GRCm39) P58T possibly damaging Het
Clec16a T C 16: 10,509,419 (GRCm39) I797T probably damaging Het
Col4a1 A C 8: 11,292,829 (GRCm39) probably benign Het
Colgalt2 G A 1: 152,360,655 (GRCm39) V231I probably damaging Het
D430041D05Rik G T 2: 104,038,428 (GRCm39) N1580K probably damaging Het
Dcdc5 A G 2: 106,181,910 (GRCm39) noncoding transcript Het
Ddx17 T C 15: 79,414,577 (GRCm39) D530G probably benign Het
Dhx9 A T 1: 153,341,441 (GRCm39) D601E probably benign Het
Dnah3 A G 7: 119,646,853 (GRCm39) Y1059H probably damaging Het
Dtx1 C A 5: 120,848,569 (GRCm39) probably benign Het
Egfr A G 11: 16,813,065 (GRCm39) S182G probably benign Het
Fads1 A G 19: 10,163,116 (GRCm39) N131S probably benign Het
Fam243 T A 16: 92,117,553 (GRCm39) Y245F probably damaging Het
Fancm C T 12: 65,165,125 (GRCm39) A1490V possibly damaging Het
Fsd2 C A 7: 81,209,339 (GRCm39) E168* probably null Het
Galnt2l T C 8: 123,568,687 (GRCm39) probably benign Het
Gm9772 A T 17: 22,226,099 (GRCm39) C62S probably damaging Het
H60c C T 10: 3,210,307 (GRCm39) A81T possibly damaging Het
Iffo1 T C 6: 125,122,877 (GRCm39) S220P possibly damaging Het
Itih4 A G 14: 30,614,610 (GRCm39) M491V probably benign Het
Khdrbs2 T C 1: 32,559,777 (GRCm39) R102G possibly damaging Het
Klhdc7a T G 4: 139,692,835 (GRCm39) Y704S possibly damaging Het
Klk1b21 G A 7: 43,754,923 (GRCm39) V73I probably benign Het
Krt42 G A 11: 100,160,435 (GRCm39) A88V probably benign Het
Krt42 C T 11: 100,160,436 (GRCm39) A88T probably benign Het
Limk1 G T 5: 134,686,364 (GRCm39) D580E probably benign Het
Lipk C T 19: 34,024,185 (GRCm39) P323S probably damaging Het
Lipo5 T A 19: 33,443,273 (GRCm39) probably benign Het
Llgl2 A G 11: 115,736,325 (GRCm39) D166G probably benign Het
Mapk8ip3 A T 17: 25,125,923 (GRCm39) N439K probably damaging Het
Mapkbp1 C T 2: 119,803,626 (GRCm39) R32W probably damaging Het
Med23 T A 10: 24,779,550 (GRCm39) probably benign Het
Mrgprb1 A T 7: 48,097,777 (GRCm39) M45K probably damaging Het
Mroh7 G A 4: 106,552,338 (GRCm39) probably benign Het
Mrpl27 G A 11: 94,544,659 (GRCm39) probably benign Het
Ms4a10 T A 19: 10,942,097 (GRCm39) T175S possibly damaging Het
Muc17 T C 5: 137,166,799 (GRCm39) H330R probably benign Het
Myo15a A T 11: 60,399,028 (GRCm39) I2787F probably damaging Het
Ndst1 A G 18: 60,846,277 (GRCm39) C11R possibly damaging Het
Obsl1 C A 1: 75,464,300 (GRCm39) G1669* probably null Het
Or5p56 A G 7: 107,589,605 (GRCm39) E11G probably benign Het
Or6c208 A T 10: 129,223,652 (GRCm39) D50V probably damaging Het
Or7e177 T C 9: 20,212,134 (GRCm39) Y214H probably benign Het
Pafah2 T A 4: 134,131,468 (GRCm39) I52N probably damaging Het
Pcsk6 A T 7: 65,693,283 (GRCm39) I693F possibly damaging Het
Pde4c G T 8: 71,199,262 (GRCm39) R228L probably benign Het
Pdzd8 T C 19: 59,288,904 (GRCm39) N832S probably benign Het
Plbd1 T A 6: 136,590,814 (GRCm39) M451L probably benign Het
Pramel14 G T 4: 143,719,851 (GRCm39) D171E probably benign Het
Prom1 T C 5: 44,194,965 (GRCm39) D260G probably damaging Het
Ranbp17 A G 11: 33,216,310 (GRCm39) S813P probably damaging Het
Scn10a T C 9: 119,520,544 (GRCm39) I119V probably benign Het
Sh3pxd2b A G 11: 32,365,967 (GRCm39) T353A probably damaging Het
Shq1 A T 6: 100,646,659 (GRCm39) probably null Het
Slc22a28 T A 19: 8,049,223 (GRCm39) H342L possibly damaging Het
Slco2b1 C T 7: 99,314,114 (GRCm39) E9K probably null Het
Specc1l T C 10: 75,082,118 (GRCm39) F505L probably damaging Het
Sptan1 G T 2: 29,870,215 (GRCm39) probably null Het
St6gal2 A G 17: 55,797,932 (GRCm39) probably benign Het
Taok2 T C 7: 126,479,313 (GRCm39) I73V probably benign Het
Tax1bp1 C T 6: 52,721,229 (GRCm39) T478I probably benign Het
Tbc1d4 A T 14: 101,744,542 (GRCm39) N361K probably damaging Het
Tph1 A T 7: 46,296,907 (GRCm39) Y429* probably null Het
Tprkb A T 6: 85,901,403 (GRCm39) R14W probably damaging Het
Trio A T 15: 27,753,890 (GRCm39) probably benign Het
Ttc23 T C 7: 67,316,902 (GRCm39) probably benign Het
Vmn1r211 T C 13: 23,036,415 (GRCm39) Y84C probably damaging Het
Vmn2r22 C G 6: 123,614,624 (GRCm39) G322A possibly damaging Het
Wdr74 A G 19: 8,717,776 (GRCm39) Q330R probably benign Het
Wdtc1 C A 4: 133,024,739 (GRCm39) S486I possibly damaging Het
Zbtb24 T C 10: 41,340,989 (GRCm39) V673A possibly damaging Het
Zfpm2 A T 15: 40,965,877 (GRCm39) R655S probably damaging Het
Zkscan5 A G 5: 145,157,798 (GRCm39) N694D 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
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
Predicted Primers PCR Primer
(F):5'- ATCCTGCACAGAAGGAACCATGATG -3'
(R):5'- TGAGCTTGTCTCCCTAGTAGTGGC -3'

Sequencing Primer
(F):5'- GTCTTCCCAACAGTAGATGTACAGG -3'
(R):5'- AGTGGCATTCTTCTGATCCAG -3'
Posted On 2014-03-14