Mutagenetix > Incidental Mutation

Incidental Mutation 'R7181:Hirip3'

558981

Institutional Source

Beutler Lab

Gene Symbol

Hirip3

Ensembl Gene

ENSMUSG00000042606

Gene Name

HIRA interacting protein 3

Synonyms

MMRRC Submission

045270-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

126461155-126464549 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 126463235 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 397 (D397G)

Ref Sequence

ENSEMBL: ENSMUSP00000035535 (fasta)

Gene Model

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

AlphaFold

Q8BLH7

Predicted Effect

probably damaging
Transcript: ENSMUST00000037248
AA Change: D397G

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000035535
Gene: ENSMUSG00000042606
AA Change: D397G

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

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: ENSMUST00000132808

SMART Domains

Protein: ENSMUSP00000115145
Gene: ENSMUSG00000042606

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: ENSMUST00000205349

Predicted Effect

probably benign
Transcript: ENSMUST00000205619

Predicted Effect

probably benign
Transcript: ENSMUST00000205958

Predicted Effect

probably benign
Transcript: ENSMUST00000206349

Predicted Effect

probably benign
Transcript: ENSMUST00000206968

Predicted Effect

probably benign
Transcript: ENSMUST00000214525

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.9%

Validation Efficiency

98% (62/63)

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsbg3	A	G	17: 57,188,037 (GRCm39)	N182D	probably benign	Het
Adgrl1	A	G	8: 84,652,878 (GRCm39)		probably null	Het
Adm	T	C	7: 110,228,236 (GRCm39)	I139T	probably damaging	Het
Ahnak	A	T	19: 8,990,852 (GRCm39)	K4045N	probably damaging	Het
Axin1	T	A	17: 26,392,752 (GRCm39)	S344R	probably damaging	Het
Cacna1g	T	C	11: 94,306,691 (GRCm39)	S1896G	probably benign	Het
Cd209c	A	G	8: 3,995,712 (GRCm39)	V30A	probably benign	Het
Cd86	CA	CAA	16: 36,426,917 (GRCm39)		probably null	Het
Cdh8	A	T	8: 99,825,557 (GRCm39)	M520K	probably benign	Het
Cyp2b23	G	A	7: 26,373,828 (GRCm39)	T306I	probably damaging	Het
Dnajc10	T	G	2: 80,149,587 (GRCm39)	Y96*	probably null	Het
Eif1ad14	G	A	12: 87,886,492 (GRCm39)	R46W	possibly damaging	Het
Elmod1	A	C	9: 53,841,382 (GRCm39)		probably null	Het
Eva1b	A	G	4: 126,043,446 (GRCm39)	H162R	possibly damaging	Het
Fam222b	A	T	11: 78,045,804 (GRCm39)	N455I	probably damaging	Het
Fer1l6	G	A	15: 58,447,146 (GRCm39)	A626T	probably benign	Het
Fgd6	A	G	10: 93,879,373 (GRCm39)	T76A	probably benign	Het
Fndc7	A	G	3: 108,788,640 (GRCm39)		probably null	Het
Gabrg2	T	A	11: 41,811,261 (GRCm39)	I295F	probably damaging	Het
Gm10406	A	T	14: 7,027,359 (GRCm38)		probably null	Het
Gm47189	T	C	14: 41,492,059 (GRCm39)	M73V	probably benign	Het
Gm9758	A	T	5: 14,963,667 (GRCm39)	S54T	probably damaging	Het
Gm9857	A	G	3: 108,847,554 (GRCm39)	S70P	unknown	Het
Gsap	A	T	5: 21,458,427 (GRCm39)	E470D	probably damaging	Het
Hesx1	T	A	14: 26,722,678 (GRCm39)	M1K	probably null	Het
Kalrn	T	A	16: 33,983,447 (GRCm39)	N13I	probably benign	Het
Mettl8	A	T	2: 70,803,706 (GRCm39)	S194T	possibly damaging	Het
Mrps35	T	G	6: 146,957,491 (GRCm39)		probably null	Het
Myrfl	G	T	10: 116,697,448 (GRCm39)	N25K	probably damaging	Het
Or51b6b	C	A	7: 103,310,020 (GRCm39)	G146C	probably damaging	Het
Or7a41	A	G	10: 78,871,287 (GRCm39)	Y219C	probably damaging	Het
Or9k2b	A	T	10: 130,016,626 (GRCm39)	I41N	possibly damaging	Het
Phf14	A	T	6: 11,933,340 (GRCm39)	E67D	unknown	Het
Prdm16	C	T	4: 154,613,094 (GRCm39)	G111D	probably damaging	Het
Prex1	G	A	2: 166,412,291 (GRCm39)	A1568V	probably damaging	Het
Ptpn23	G	A	9: 110,214,325 (GRCm39)	T1692I	unknown	Het
Ptprb	C	T	10: 116,204,671 (GRCm39)	S1835L	probably damaging	Het
Rbm19	G	A	5: 120,254,532 (GRCm39)		probably benign	Het
Rgs7bp	T	A	13: 105,119,382 (GRCm39)	H152L	possibly damaging	Het
Rmdn3	A	T	2: 118,969,849 (GRCm39)	L404Q	probably damaging	Het
Rock2	T	A	12: 17,023,144 (GRCm39)	F1148I	probably benign	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Sec24c	C	A	14: 20,739,401 (GRCm39)	H559N	probably damaging	Het
Sephs2	T	C	7: 126,872,992 (GRCm39)	S34G	probably benign	Het
Serpina6	A	T	12: 103,613,203 (GRCm39)	S366T	probably benign	Het
Serpinb7	A	T	1: 107,378,052 (GRCm39)	E248D	probably benign	Het
Sesn1	G	T	10: 41,779,724 (GRCm39)	R386L	possibly damaging	Het
Skida1	T	C	2: 18,051,602 (GRCm39)	S430G	unknown	Het
Slc28a2	A	T	2: 122,282,462 (GRCm39)		probably null	Het
Slc39a8	T	C	3: 135,563,299 (GRCm39)	F203S	possibly damaging	Het
Svip	A	G	7: 51,653,177 (GRCm39)	S46P	possibly damaging	Het
Tbx21	T	A	11: 96,989,923 (GRCm39)	D423V	probably benign	Het
Tcirg1	G	A	19: 3,953,576 (GRCm39)	A117V	probably null	Het
Tmem63b	T	A	17: 45,984,094 (GRCm39)	K258N	probably benign	Het
Tmem94	A	G	11: 115,685,600 (GRCm39)	N951S	probably damaging	Het
Uba2	G	T	7: 33,840,854 (GRCm39)	D591E	probably benign	Het
Unc13b	C	T	4: 43,258,893 (GRCm39)	R1356W	probably damaging	Het
Wasf3	A	G	5: 146,403,615 (GRCm39)	T242A	probably benign	Het
Wscd1	T	C	11: 71,650,709 (GRCm39)	L12P	probably damaging	Het
Zfp770	T	C	2: 114,027,872 (GRCm39)	K66E	probably damaging	Het
Zfyve26	A	T	12: 79,315,182 (GRCm39)	D1431E	probably benign	Het
Zhx2	G	A	15: 57,686,746 (GRCm39)	R705H	probably benign	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
R1951:Hirip3	UTSW	7	126,462,038 (GRCm39)	missense	probably damaging	0.96
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
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'- CACAGTGGGTAGTGGGGAC -3'
(R):5'- CACCTTCCGACCTGTGGG -3'

Sequencing Primer
(F):5'- GGAGAAGAGCACTCGGTG -3'
(R):5'- GTTCTGGACCTGAATCTGATGAAG -3'

Posted On

2019-06-26