Mutagenetix > Incidental Mutation

Incidental Mutation 'R6128:Hira'

487541

Institutional Source

Beutler Lab

Gene Symbol

Hira

Ensembl Gene

ENSMUSG00000022702

Gene Name

histone cell cycle regulator

Synonyms

Tuple1, Gm15797, D16Ertd95e

MMRRC Submission

044275-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6128 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18695787-18789059 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 18751727 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Serine at position 509 (P509S)

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: P509S

PolyPhen 2 Score 0.080 (Sensitivity: 0.93; Specificity: 0.85)

SMART Domains

Protein: ENSMUSP00000004222
Gene: ENSMUSG00000022702
AA Change: P509S

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: ENSMUST00000120532

SMART Domains

Protein: ENSMUSP00000112614
Gene: ENSMUSG00000022702

Domain	Start	End	E-Value	Type
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: ENSMUST00000120899

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000131444

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150799

Predicted Effect

probably benign
Transcript: ENSMUST00000153397

SMART Domains

Protein: ENSMUSP00000117944
Gene: ENSMUSG00000022702

Domain	Start	End	E-Value	Type
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

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

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.5%
20x: 95.9%

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930553M12Rik	T	C	4: 88,786,596 (GRCm39)	I7M	unknown	Het
A430033K04Rik	A	G	5: 138,646,038 (GRCm39)	H641R	probably damaging	Het
Acyp2	C	T	11: 30,456,354 (GRCm39)	E98K	possibly damaging	Het
Asah1	C	T	8: 41,807,092 (GRCm39)	V111M	probably damaging	Het
Ascc3	T	C	10: 50,526,734 (GRCm39)	L611P	probably damaging	Het
Atl2	C	A	17: 80,172,470 (GRCm39)		probably null	Het
Bhlhe22	A	T	3: 18,109,987 (GRCm39)	S346C	probably damaging	Het
Bicc1	T	C	10: 70,776,313 (GRCm39)		probably null	Het
Bptf	G	T	11: 106,965,516 (GRCm39)	A1163D	possibly damaging	Het
Bub1b	T	A	2: 118,448,293 (GRCm39)	C382S	probably benign	Het
Carmil1	A	T	13: 24,197,177 (GRCm39)	Y158*	probably null	Het
Ccdc175	A	T	12: 72,175,933 (GRCm39)	I473K	probably benign	Het
Ccdc18	A	G	5: 108,311,625 (GRCm39)	I444V	possibly damaging	Het
Cep131	T	A	11: 119,956,801 (GRCm39)	I880F	probably damaging	Het
Ces2e	T	A	8: 105,655,428 (GRCm39)	I117N	probably benign	Het
Clk2	C	T	3: 89,081,531 (GRCm39)	T289M	probably damaging	Het
Crocc2	A	T	1: 93,122,123 (GRCm39)	D672V	probably benign	Het
Cul7	T	A	17: 46,962,588 (GRCm39)	I73N	probably damaging	Het
Cyp2d12	C	A	15: 82,443,166 (GRCm39)	D358E	probably benign	Het
Cyp7a1	A	G	4: 6,272,788 (GRCm39)	S142P	possibly damaging	Het
Daw1	T	A	1: 83,183,647 (GRCm39)	C232*	probably null	Het
Dhx9	T	C	1: 153,353,835 (GRCm39)	K195R	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dpp3	A	G	19: 4,972,420 (GRCm39)	V168A	probably benign	Het
Eml2	G	A	7: 18,935,088 (GRCm39)	V432I	probably damaging	Het
Ercc6l2	T	C	13: 64,001,563 (GRCm39)	V459A	probably damaging	Het
Erp44	A	T	4: 48,243,493 (GRCm39)	N38K	probably damaging	Het
Fam135a	A	G	1: 24,069,821 (GRCm39)		probably null	Het
Fblim1	G	A	4: 141,312,033 (GRCm39)	R231C	probably damaging	Het
Fdps	T	C	3: 89,006,740 (GRCm39)	E117G	possibly damaging	Het
Gbp4	A	C	5: 105,283,030 (GRCm39)	V80G	possibly damaging	Het
Glt1d1	A	T	5: 127,754,335 (GRCm39)	D179V	probably damaging	Het
Gtf2a1l	T	A	17: 89,002,086 (GRCm39)	V314E	probably null	Het
Gzmf	G	T	14: 56,443,443 (GRCm39)	Y178*	probably null	Het
Ifi44	T	C	3: 151,454,823 (GRCm39)	N134S	probably benign	Het
Igfbp2	T	A	1: 72,863,958 (GRCm39)	C74S	probably damaging	Het
Il24	A	G	1: 130,813,435 (GRCm39)	L54P	probably damaging	Het
Ints10	T	C	8: 69,274,904 (GRCm39)		probably null	Het
Ipo9	A	G	1: 135,318,311 (GRCm39)	C700R	possibly damaging	Het
Kalrn	T	A	16: 34,033,255 (GRCm39)	Q469L	probably damaging	Het
Lrp1b	T	G	2: 40,750,667 (GRCm39)	I2966L	probably benign	Het
Lta	C	A	17: 35,422,817 (GRCm39)	V169L	possibly damaging	Het
Lyst	T	C	13: 13,933,964 (GRCm39)	V3554A	possibly damaging	Het
Mobp	A	G	9: 119,997,392 (GRCm39)		probably benign	Het
Myorg	T	A	4: 41,498,445 (GRCm39)	N395I	probably damaging	Het
Or10d1	C	G	9: 39,484,549 (GRCm39)	R2T	probably benign	Het
Or4b1d	A	T	2: 89,968,954 (GRCm39)	C176*	probably null	Het
Or8c14-ps1	T	C	9: 38,101,299 (GRCm39)	S93P	probably benign	Het
Pacs1	A	T	19: 5,202,400 (GRCm39)		probably null	Het
Phf21a	G	T	2: 92,181,953 (GRCm39)		probably null	Het
Pick1	T	A	15: 79,123,896 (GRCm39)	M89K	probably damaging	Het
Pik3cb	T	C	9: 98,946,152 (GRCm39)	D558G	possibly damaging	Het
Pnma8a	A	G	7: 16,694,661 (GRCm39)	D172G	probably benign	Het
Polr2a	A	C	11: 69,627,803 (GRCm39)	V1368G	probably damaging	Het
Pomt2	A	G	12: 87,158,109 (GRCm39)		probably null	Het
Pou2f1	T	C	1: 165,703,056 (GRCm39)		probably benign	Het
Rnf145	T	C	11: 44,446,018 (GRCm39)	V284A	probably damaging	Het
Robo1	A	T	16: 72,809,956 (GRCm39)	M1235L	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Ryr3	C	T	2: 112,784,639 (GRCm39)		probably null	Het
Scamp1	A	C	13: 94,344,735 (GRCm39)	L202R	possibly damaging	Het
Snx25	C	T	8: 46,558,240 (GRCm39)	V110I	probably benign	Het
Spata31e2	G	A	1: 26,724,506 (GRCm39)	P225S	probably benign	Het
Susd6	T	A	12: 80,915,388 (GRCm39)	H124Q	possibly damaging	Het
Tarm1	T	C	7: 3,537,720 (GRCm39)	T248A	probably benign	Het
Tc2n	A	G	12: 101,675,748 (GRCm39)	M1T	probably null	Het
Tcerg1	C	A	18: 42,644,563 (GRCm39)		probably null	Het
Ticrr	C	A	7: 79,343,716 (GRCm39)	P1194T	probably damaging	Het
Trim31	T	G	17: 37,220,491 (GRCm39)	V469G	probably benign	Het
Vcp	T	C	4: 42,980,941 (GRCm39)	E723G	probably benign	Het
Vmn1r177	C	A	7: 23,565,267 (GRCm39)	S203I	probably damaging	Het
Vmn1r177	T	A	7: 23,565,268 (GRCm39)	S203C	probably damaging	Het
Vmn1r210	A	T	13: 23,012,277 (GRCm39)	L3*	probably null	Het
Wdr27	T	A	17: 15,152,796 (GRCm39)	R104*	probably null	Het
Wnk1	A	C	6: 119,940,747 (GRCm39)		probably null	Het
Zfp157	A	G	5: 138,453,281 (GRCm39)	E88G	possibly damaging	Het
Zfp708	A	T	13: 67,222,965 (GRCm39)	L22Q	probably damaging	Het
Zfp788	T	C	7: 41,299,785 (GRCm39)	F787S	probably damaging	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
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'- TACCCTTGCCTTAAGACTCAGG -3'
(R):5'- AGACCCTCATTGTAAGCATTTCTTC -3'

Sequencing Primer
(F):5'- CCTTGCCTTAAGACTCAGGGAAATG -3'
(R):5'- ATTGAGCCCAGGTCCTCTAGAAG -3'

Posted On

2017-10-10