Mutagenetix > Incidental Mutation

Incidental Mutation 'R9476:Hira'

715815

Institutional Source

Beutler Lab

Gene Symbol

Hira

Ensembl Gene

ENSMUSG00000022702

Gene Name

histone cell cycle regulator

Synonyms

Tuple1, Gm15797, D16Ertd95e

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9476 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18695787-18789059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 18772789 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 867 (D867G)

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: D867G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: D867G

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
low complexity region	26	37	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578G10Rik	T	G	4: 42,760,998 (GRCm39)	W6G	unknown	Het
Aatk	A	T	11: 119,901,094 (GRCm39)	C1101S	probably benign	Het
Abcb4	A	T	5: 8,977,790 (GRCm39)	D456V	probably damaging	Het
Abcc8	T	C	7: 45,819,270 (GRCm39)	E186G	possibly damaging	Het
Adam18	T	C	8: 25,115,807 (GRCm39)	N629S	probably benign	Het
Angpt2	T	G	8: 18,764,143 (GRCm39)	N133T	probably benign	Het
Ankrd13c	T	A	3: 157,697,396 (GRCm39)	S334T	probably benign	Het
Ankrd13d	A	T	19: 4,320,289 (GRCm39)	S151T	unknown	Het
Ap3d1	G	A	10: 80,545,655 (GRCm39)	P1025S	probably benign	Het
Bhlhe41	G	A	6: 145,808,948 (GRCm39)	A288V	possibly damaging	Het
Cacna1b	T	C	2: 24,540,058 (GRCm39)	E1467G	probably damaging	Het
Cacna1h	T	A	17: 25,611,524 (GRCm39)	T425S	probably damaging	Het
Cdk13	A	C	13: 17,902,747 (GRCm39)	C934W	probably damaging	Het
Ces1b	T	A	8: 93,799,890 (GRCm39)	N162I	probably damaging	Het
Clec9a	T	A	6: 129,398,023 (GRCm39)	I187K	possibly damaging	Het
Cpsf3	A	G	12: 21,350,080 (GRCm39)	I266M	probably damaging	Het
Cr2	G	T	1: 194,840,416 (GRCm39)	L509M	probably damaging	Het
Creb3l2	C	A	6: 37,311,446 (GRCm39)	G448W	probably damaging	Het
Csmd1	T	A	8: 15,981,215 (GRCm39)		probably null	Het
Cul9	G	A	17: 46,821,833 (GRCm39)	R1881W	probably damaging	Het
Cyth1	C	T	11: 118,076,206 (GRCm39)		probably null	Het
Dnhd1	A	T	7: 105,352,889 (GRCm39)	N2681Y	possibly damaging	Het
Dnm1	T	C	2: 32,213,739 (GRCm39)	M476V	probably benign	Het
Dnmt3a	A	G	12: 3,957,707 (GRCm39)	H896R	probably damaging	Het
Dock1	T	G	7: 134,592,279 (GRCm39)	I938S	probably benign	Het
Dock6	G	A	9: 21,724,821 (GRCm39)	L1515F	probably damaging	Het
Dusp16	T	C	6: 134,695,226 (GRCm39)	H535R	probably benign	Het
Fancd2os	T	A	6: 113,574,994 (GRCm39)	Y4F	probably damaging	Het
Fat4	A	T	3: 39,037,886 (GRCm39)	Q3846L	probably benign	Het
Fbxw10	A	C	11: 62,743,814 (GRCm39)	H240P	probably benign	Het
Frmd4a	A	G	2: 4,608,324 (GRCm39)	T731A	probably benign	Het
Gm44501	T	A	17: 40,889,820 (GRCm39)	H111Q	possibly damaging	Het
Gsdmc	T	C	15: 63,650,551 (GRCm39)	M277V	probably benign	Het
Hmcn1	A	G	1: 150,462,127 (GRCm39)	S5184P	probably benign	Het
Ighv1-26	A	C	12: 114,752,407 (GRCm39)	F7V	probably benign	Het
Igkv4-81	C	T	6: 68,967,796 (GRCm39)	E102K	possibly damaging	Het
Inmt	G	T	6: 55,147,990 (GRCm39)	S213Y	possibly damaging	Het
Ints2	T	A	11: 86,135,335 (GRCm39)	M360L	probably benign	Het
Itih3	A	G	14: 30,631,416 (GRCm39)	S827P	probably benign	Het
Itpr3	G	A	17: 27,337,651 (GRCm39)		probably benign	Het
Kcnk12	C	A	17: 88,054,122 (GRCm39)	R180L	probably benign	Het
Kndc1	G	A	7: 139,510,031 (GRCm39)	S1291N	probably benign	Het
Mettl21a	T	C	1: 64,647,285 (GRCm39)	T91A	probably damaging	Het
Mmrn2	A	G	14: 34,120,407 (GRCm39)	I426V	possibly damaging	Het
Mrpl21	T	G	19: 3,337,704 (GRCm39)	V137G	probably damaging	Het
Nrbp2	T	C	15: 75,961,626 (GRCm39)	N218S	probably damaging	Het
Nrip1	T	C	16: 76,089,820 (GRCm39)	N579S	probably benign	Het
Nsf	T	C	11: 103,763,988 (GRCm39)	N365S	probably damaging	Het
Or6c5	A	G	10: 129,074,656 (GRCm39)	I213V	probably damaging	Het
Or7g28	A	T	9: 19,272,383 (GRCm39)	D89E	probably benign	Het
Osbpl3	C	T	6: 50,313,194 (GRCm39)		probably null	Het
Oscar	T	A	7: 3,614,843 (GRCm39)	H43L	probably benign	Het
Pam	C	T	1: 97,826,065 (GRCm39)		probably null	Het
Parn	A	T	16: 13,358,942 (GRCm39)	M600K	probably benign	Het
Pcdha11	C	A	18: 37,139,532 (GRCm39)	T387N	probably benign	Het
Plce1	G	A	19: 38,766,337 (GRCm39)	E2121K	possibly damaging	Het
Prune2	T	A	19: 17,096,706 (GRCm39)	Y737N	possibly damaging	Het
Ptch1	G	A	13: 63,681,448 (GRCm39)	P613L	probably benign	Het
Ptprt	A	C	2: 161,397,381 (GRCm39)	C1129G	probably damaging	Het
Rara	C	T	11: 98,860,983 (GRCm39)	S157L	probably benign	Het
Rest	T	A	5: 77,416,098 (GRCm39)	M104K	probably damaging	Het
Rfc1	A	G	5: 65,437,142 (GRCm39)	S513P	probably damaging	Het
Rnf40	T	A	7: 127,201,808 (GRCm39)	I1000N	probably damaging	Het
Scube2	C	T	7: 109,430,969 (GRCm39)	G410E	probably damaging	Het
Sh3gl2	A	G	4: 85,304,089 (GRCm39)	E264G	probably benign	Het
Shank1	G	A	7: 43,962,342 (GRCm39)	S71N	unknown	Het
Smc4	T	G	3: 68,914,662 (GRCm39)	S92A	probably damaging	Het
Spata31d1b	A	G	13: 59,863,467 (GRCm39)	D205G	probably benign	Het
Spata31e4	A	G	13: 50,856,149 (GRCm39)	T596A	possibly damaging	Het
Spef2	T	C	15: 9,713,203 (GRCm39)	R390G	probably damaging	Het
Speg	T	C	1: 75,377,768 (GRCm39)	F842S	probably damaging	Het
Stk17b	G	T	1: 53,796,898 (GRCm39)	H290N	probably damaging	Het
Stpg3	A	T	2: 25,103,516 (GRCm39)	V191D	probably benign	Het
Supt6	C	T	11: 78,120,290 (GRCm39)	R350H	probably damaging	Het
Tet3	T	C	6: 83,380,935 (GRCm39)	E411G	possibly damaging	Het
Tet3	T	A	6: 83,381,808 (GRCm39)		probably null	Het
Tns3	A	G	11: 8,395,702 (GRCm39)	I1234T	probably damaging	Het
Trim34b	A	G	7: 103,980,503 (GRCm39)	E197G	probably damaging	Het
Vcan	G	T	13: 89,851,531 (GRCm39)	T1143K	possibly damaging	Het
Vmn2r61	T	A	7: 41,949,593 (GRCm39)	V671E	probably damaging	Het
Wdtc1	A	G	4: 133,049,529 (GRCm39)	V29A	probably damaging	Het
Zfp462	G	A	4: 55,080,735 (GRCm39)	M2450I	probably benign	Het
Zfp869	A	T	8: 70,159,849 (GRCm39)	C241*	probably null	Het

Other mutations in Hira

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
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
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'- AGTGACACTCCTCATTTATCAGAC -3'
(R):5'- TGACAACTCTTCTGCACCAAGC -3'

Sequencing Primer
(F):5'- TCTGACTAGAAAACCTGCCAGTAATG -3'
(R):5'- CCAAGCAACAGTTAGGACACAGG -3'

Posted On

2022-06-15