Mutagenetix > Incidental Mutation

Incidental Mutation 'R1951:Hirip3'

217296

Institutional Source

Beutler Lab

Gene Symbol

Hirip3

Ensembl Gene

ENSMUSG00000042606

Gene Name

HIRA interacting protein 3

Synonyms

MMRRC Submission

039965-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1951 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

126461155-126464549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126462038 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glycine at position 19 (R19G)

Ref Sequence

ENSEMBL: ENSMUSP00000115145 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037248] [ENSMUST00000050833] [ENSMUST00000071268] [ENSMUST00000106342] [ENSMUST00000106343] [ENSMUST00000132808] [ENSMUST00000205349] [ENSMUST00000129812] [ENSMUST00000206968] [ENSMUST00000206349] [ENSMUST00000214525]

AlphaFold

Q8BLH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037248
AA Change: R79G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000035535
Gene: ENSMUSG00000042606
AA Change: R79G

Domain	Start	End	E-Value	Type
low complexity region	96	113	N/A	INTRINSIC
low complexity region	148	164	N/A	INTRINSIC
low complexity region	229	244	N/A	INTRINSIC
low complexity region	286	339	N/A	INTRINSIC
low complexity region	379	390	N/A	INTRINSIC
low complexity region	405	419	N/A	INTRINSIC
internal_repeat_1	420	443	6.44e-5	PROSPERO
internal_repeat_1	440	463	6.44e-5	PROSPERO
CHZ	529	565	1.17e-11	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000050833

SMART Domains

Protein: ENSMUSP00000049851
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	25	42	N/A	INTRINSIC
low complexity region	59	81	N/A	INTRINSIC
low complexity region	86	108	N/A	INTRINSIC
low complexity region	116	132	N/A	INTRINSIC
low complexity region	163	171	N/A	INTRINSIC
low complexity region	184	199	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000071268

SMART Domains

Protein: ENSMUSP00000071246
Gene: ENSMUSG00000059981

Domain	Start	End	E-Value	Type
S_TKc	28	281	6.42e-86	SMART
low complexity region	319	333	N/A	INTRINSIC
coiled coil region	373	401	N/A	INTRINSIC
low complexity region	449	465	N/A	INTRINSIC
coiled coil region	493	526	N/A	INTRINSIC
low complexity region	558	570	N/A	INTRINSIC
coiled coil region	579	608	N/A	INTRINSIC
low complexity region	620	639	N/A	INTRINSIC
coiled coil region	821	859	N/A	INTRINSIC
low complexity region	863	892	N/A	INTRINSIC
low complexity region	931	954	N/A	INTRINSIC
low complexity region	963	972	N/A	INTRINSIC
low complexity region	977	992	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106342

SMART Domains

Protein: ENSMUSP00000101949
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
low complexity region	44	66	N/A	INTRINSIC
low complexity region	74	90	N/A	INTRINSIC
low complexity region	121	129	N/A	INTRINSIC
low complexity region	142	157	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106343

SMART Domains

Protein: ENSMUSP00000101950
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
coiled coil region	10	55	N/A	INTRINSIC
low complexity region	64	81	N/A	INTRINSIC
low complexity region	98	120	N/A	INTRINSIC
low complexity region	125	147	N/A	INTRINSIC
low complexity region	155	171	N/A	INTRINSIC
low complexity region	202	210	N/A	INTRINSIC
low complexity region	223	238	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000125624

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000129746

Predicted Effect

probably damaging
Transcript: ENSMUST00000132808
AA Change: R19G

PolyPhen 2 Score 0.959 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115145
Gene: ENSMUSG00000042606
AA Change: R19G

Domain	Start	End	E-Value	Type
low complexity region	36	53	N/A	INTRINSIC
low complexity region	88	104	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000153764

Predicted Effect

probably benign
Transcript: ENSMUST00000205349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205512

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000138793

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000132552

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144056

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150942

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146120

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130371

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154881

Predicted Effect

probably benign
Transcript: ENSMUST00000129812

SMART Domains

Protein: ENSMUSP00000114606
Gene: ENSMUSG00000030689

Domain	Start	End	E-Value	Type
SCOP:d1iw7c_	15	37	4e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000206968

Predicted Effect

probably benign
Transcript: ENSMUST00000206349

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Meta Mutation Damage Score

0.1286

Coding Region Coverage

1x: 99.2%
3x: 98.5%
10x: 96.8%
20x: 94.2%

Validation Efficiency

98% (84/86)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The HIRA protein shares sequence similarity with Hir1p and Hir2p, the two corepressors of histone gene transcription characterized in the yeast, Saccharomyces cerevisiae. The structural features of the HIRA protein suggest that it may function as part of a multiprotein complex. Several cDNAs encoding HIRA-interacting proteins, or HIRIPs, have been identified. In vitro, the protein encoded by this gene binds HIRA, as well as H2B and H3 core histones, indicating that a complex containing HIRA-HIRIP3 could function in some aspects of chromatin and histone metabolism. Alternatively spliced transcript variants encoding distinct isoforms have been found for this gene.[provided by RefSeq, Aug 2011]

Allele List at MGI

Other mutations in this stock

Total: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	C	T	7: 119,960,655 (GRCm39)	R706C	probably damaging	Het
Adcy3	T	C	12: 4,258,624 (GRCm39)	F847S	probably benign	Het
Alyref	C	G	11: 120,486,758 (GRCm39)	V168L	probably damaging	Het
Arhgap28	G	A	17: 68,208,336 (GRCm39)	A44V	probably benign	Het
Asap3	C	T	4: 135,954,767 (GRCm39)	R60*	probably null	Het
Baz1b	T	A	5: 135,245,593 (GRCm39)	N347K	probably benign	Het
Best2	T	A	8: 85,737,858 (GRCm39)	N179I	possibly damaging	Het
Bfar	C	T	16: 13,519,970 (GRCm39)	S276L	probably damaging	Het
Bloc1s3	A	G	7: 19,241,483 (GRCm39)	V15A	possibly damaging	Het
Borcs5	A	G	6: 134,687,230 (GRCm39)	H196R	unknown	Het
Calhm3	A	G	19: 47,140,256 (GRCm39)	L279P	probably benign	Het
Cand1	A	T	10: 119,043,925 (GRCm39)		probably benign	Het
Car15	T	C	16: 17,655,269 (GRCm39)	D57G	possibly damaging	Het
Casp12	G	A	9: 5,348,959 (GRCm39)		probably null	Het
Cd93	T	C	2: 148,283,778 (GRCm39)	T523A	probably benign	Het
Ces4a	G	A	8: 105,864,729 (GRCm39)	G69S	probably damaging	Het
Ckap5	A	G	2: 91,386,837 (GRCm39)		probably benign	Het
Col6a5	G	A	9: 105,814,156 (GRCm39)	R619W	unknown	Het
Colec12	G	A	18: 9,859,975 (GRCm39)		probably null	Het
Crmp1	G	A	5: 37,430,699 (GRCm39)	V222I	possibly damaging	Het
Crnkl1	G	A	2: 145,770,120 (GRCm39)	A241V	probably damaging	Het
Ctbp2	A	G	7: 132,616,756 (GRCm39)	S60P	probably benign	Het
Cyp2c68	T	C	19: 39,700,972 (GRCm39)	Y282C	probably benign	Het
Dhx36	T	C	3: 62,391,694 (GRCm39)	I551V	probably damaging	Het
Dlg5	T	A	14: 24,206,537 (GRCm39)		probably benign	Het
Dlgap1	A	T	17: 71,068,306 (GRCm39)	I300F	probably damaging	Het
Dmd	T	A	X: 82,874,123 (GRCm39)	I1342N	probably damaging	Het
Dnah6	T	A	6: 73,061,704 (GRCm39)	R2794*	probably null	Het
Fcgr1	G	A	3: 96,194,386 (GRCm39)	T167I	probably damaging	Het
Fgl1	G	T	8: 41,650,387 (GRCm39)	F187L	probably benign	Het
Fras1	T	A	5: 96,860,242 (GRCm39)	V2096E	probably benign	Het
Gm10647	A	G	9: 66,705,762 (GRCm39)		probably benign	Het
Gm14226	G	A	2: 154,866,255 (GRCm39)	D71N	possibly damaging	Het
Grip2	A	T	6: 91,760,829 (GRCm39)	I284N	probably damaging	Het
Ift70b	A	G	2: 75,767,586 (GRCm39)	L389P	probably damaging	Het
Irx5	A	G	8: 93,086,438 (GRCm39)	N174D	probably damaging	Het
Itgal	A	G	7: 126,929,317 (GRCm39)	D1078G	probably damaging	Het
Khdc3	T	C	9: 73,010,519 (GRCm39)	V123A	possibly damaging	Het
Klhl13	A	G	X: 23,127,820 (GRCm39)		probably benign	Het
Klhl42	T	C	6: 146,993,321 (GRCm39)	S98P	probably damaging	Het
Lrp5	T	C	19: 3,670,298 (GRCm39)	N602S	possibly damaging	Het
Lrrd1	A	T	5: 3,901,488 (GRCm39)	I598F	probably damaging	Het
Ltbp1	A	G	17: 75,458,372 (GRCm39)	T318A	probably benign	Het
Mfsd6	A	G	1: 52,748,517 (GRCm39)	F116S	probably damaging	Het
Ncam1	T	C	9: 49,456,492 (GRCm39)	I486V	probably benign	Het
Nptx1	A	G	11: 119,434,006 (GRCm39)		probably null	Het
Nrg1	T	C	8: 32,408,221 (GRCm39)	Y4C	probably damaging	Het
Nsf	G	A	11: 103,773,702 (GRCm39)	R271*	probably null	Het
Or5d39	A	G	2: 87,979,641 (GRCm39)	S241P	possibly damaging	Het
Or8g24	T	A	9: 38,989,580 (GRCm39)	I154F	probably benign	Het
Or8k18	G	C	2: 86,085,440 (GRCm39)	T199S	probably benign	Het
Or8k21	T	A	2: 86,145,504 (GRCm39)	N42I	probably damaging	Het
Or8k24	A	T	2: 86,215,855 (GRCm39)	H302Q	probably benign	Het
Pax2	A	G	19: 44,777,271 (GRCm39)	T155A	probably benign	Het
Pdia4	A	G	6: 47,780,813 (GRCm39)	Y212H	probably damaging	Het
Pgr	A	G	9: 8,946,954 (GRCm39)		probably benign	Het
Pitpnm3	G	T	11: 71,965,450 (GRCm39)	H112N	possibly damaging	Het
Ppargc1b	G	T	18: 61,431,848 (GRCm39)	T1000K	possibly damaging	Het
Psd3	C	A	8: 68,416,139 (GRCm39)	C586F	probably benign	Het
Ptprm	A	T	17: 67,247,575 (GRCm39)	S587T	probably benign	Het
Rabep2	A	T	7: 126,037,736 (GRCm39)	R169S	possibly damaging	Het
Rad21l	T	C	2: 151,497,179 (GRCm39)	R309G	probably benign	Het
Rbm12	T	C	2: 155,939,133 (GRCm39)	R380G	probably damaging	Het
Selp	A	G	1: 163,954,081 (GRCm39)	N127S	probably benign	Het
Slc12a2	A	G	18: 58,012,467 (GRCm39)	T197A	possibly damaging	Het
Slc22a18	C	T	7: 143,029,984 (GRCm39)	T17I	probably damaging	Het
Sptbn4	T	C	7: 27,065,868 (GRCm39)	E2026G	possibly damaging	Het
Srf	A	T	17: 46,862,633 (GRCm39)	M285K	possibly damaging	Het
Tanc1	T	C	2: 59,622,156 (GRCm39)	V425A	possibly damaging	Het
Tle4	A	T	19: 14,493,721 (GRCm39)		probably null	Het
Tmem132e	A	G	11: 82,335,908 (GRCm39)	R905G	possibly damaging	Het
Tmem200c	A	T	17: 69,147,983 (GRCm39)	I189F	probably damaging	Het
Trappc13	T	C	13: 104,311,150 (GRCm39)	Q87R	probably benign	Het
Trpm7	A	T	2: 126,673,219 (GRCm39)	D511E	probably damaging	Het
Ttn	A	T	2: 76,632,634 (GRCm39)	I14140N	possibly damaging	Het
Virma	A	G	4: 11,513,907 (GRCm39)	D587G	probably benign	Het
Vmn1r72	A	G	7: 11,403,731 (GRCm39)	L239P	probably damaging	Het
Vmn2r68	A	G	7: 84,883,102 (GRCm39)	F217L	probably damaging	Het
Vps13c	T	C	9: 67,881,041 (GRCm39)		probably null	Het
Vrtn	T	C	12: 84,695,973 (GRCm39)	V241A	probably damaging	Het
Xdh	T	C	17: 74,214,653 (GRCm39)	E764G	probably damaging	Het
Zranb3	A	T	1: 127,927,136 (GRCm39)	V343D	probably damaging	Het

Other mutations in Hirip3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01523:Hirip3	APN	7	126,461,876 (GRCm39)	missense	probably damaging	1.00
IGL01531:Hirip3	APN	7	126,462,548 (GRCm39)	missense	possibly damaging	0.72
IGL01885:Hirip3	APN	7	126,463,381 (GRCm39)	missense	probably benign	0.00
R0126:Hirip3	UTSW	7	126,462,614 (GRCm39)	missense	probably damaging	0.99
R0270:Hirip3	UTSW	7	126,462,363 (GRCm39)	missense	probably damaging	0.99
R1185:Hirip3	UTSW	7	126,462,832 (GRCm39)	frame shift	probably null
R1185:Hirip3	UTSW	7	126,462,832 (GRCm39)	frame shift	probably null
R1185:Hirip3	UTSW	7	126,462,832 (GRCm39)	frame shift	probably null
R1676:Hirip3	UTSW	7	126,462,647 (GRCm39)	splice site	probably null
R1792:Hirip3	UTSW	7	126,461,792 (GRCm39)	missense	probably damaging	0.98
R2327:Hirip3	UTSW	7	126,462,038 (GRCm39)	missense	probably damaging	0.96
R4674:Hirip3	UTSW	7	126,463,834 (GRCm39)	critical splice donor site	probably null
R5024:Hirip3	UTSW	7	126,463,661 (GRCm39)	splice site	probably null
R5523:Hirip3	UTSW	7	126,463,034 (GRCm39)	missense	possibly damaging	0.62
R6876:Hirip3	UTSW	7	126,463,321 (GRCm39)	missense	probably damaging	1.00
R7181:Hirip3	UTSW	7	126,463,235 (GRCm39)	missense	probably damaging	1.00
R8208:Hirip3	UTSW	7	126,463,595 (GRCm39)	missense	probably damaging	1.00
R8378:Hirip3	UTSW	7	126,462,757 (GRCm39)	missense	probably benign	0.00
R9211:Hirip3	UTSW	7	126,463,567 (GRCm39)	nonsense	probably null
R9682:Hirip3	UTSW	7	126,462,021 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GGTCGGGATCATCTTGAACC -3'
(R):5'- AGCTGGTTCCTGACTCACTGTC -3'

Sequencing Primer
(F):5'- CGGGATCATCTTGAACCTGAAG -3'
(R):5'- TGACTCACTGTCCCCCAAG -3'

Posted On

2014-08-01