Mutagenetix > Incidental Mutation

Incidental Mutation 'R3771:Irf2bp2'

273278

Institutional Source

Beutler Lab

Gene Symbol

Irf2bp2

Ensembl Gene

ENSMUSG00000051495

Gene Name

interferon regulatory factor 2 binding protein 2

Synonyms

E130305N23Rik

MMRRC Submission

040747-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.729) question?

Stock #

R3771 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

127315035-127320725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127318550 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 339 (K339E)

Ref Sequence

ENSEMBL: ENSMUSP00000062753 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000054960]

AlphaFold

E9Q1P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000054960
AA Change: K339E

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

SMART Domains

Protein: ENSMUSP00000062753
Gene: ENSMUSG00000051495
AA Change: K339E

Domain	Start	End	E-Value	Type
low complexity region	2	10	N/A	INTRINSIC
Pfam:IRF-2BP1_2	12	63	8.3e-38	PFAM
low complexity region	77	92	N/A	INTRINSIC
low complexity region	101	110	N/A	INTRINSIC
low complexity region	132	147	N/A	INTRINSIC
low complexity region	188	207	N/A	INTRINSIC
low complexity region	225	238	N/A	INTRINSIC
low complexity region	254	270	N/A	INTRINSIC
low complexity region	342	353	N/A	INTRINSIC
low complexity region	373	392	N/A	INTRINSIC
low complexity region	438	446	N/A	INTRINSIC
SCOP:d1fbva4	487	533	7e-5	SMART
Blast:RING	493	540	2e-21	BLAST
PDB:2CS3\|A	493	560	6e-40	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000181773

Meta Mutation Damage Score

0.0878

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.3%

Validation Efficiency

99% (69/70)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an interferon regulatory factor-2 (IRF2) binding protein that interacts with the C-terminal transcriptional repression domain of IRF2. Alternative splicing results in multiple transcript variants encoding distinct isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mice are rarely born alive and those that are do not survive past 4 weeks of age. Fetal liver erythropoiesis is abnormal in these mice. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aanat	G	T	11: 116,487,697 (GRCm39)	G132V	probably damaging	Het
Abcb11	T	A	2: 69,159,720 (GRCm39)		probably benign	Het
Adam26b	T	A	8: 43,973,751 (GRCm39)	D417V	probably damaging	Het
Ank1	T	C	8: 23,613,913 (GRCm39)	S1482P	probably benign	Het
Aoc1l2	T	C	6: 48,908,130 (GRCm39)	Y377H	probably damaging	Het
Armc2	C	T	10: 41,798,223 (GRCm39)	V768M	probably damaging	Het
Ascc3	C	T	10: 50,596,814 (GRCm39)		probably benign	Het
Birc6	T	A	17: 74,925,424 (GRCm39)		probably benign	Het
Cd109	CATTTATTTATTTATTTATTTATTTATTTATTTAT	CATTTATTTATTTATTTATTTATTTATTTATTTATTTAT	9: 78,619,782 (GRCm39)		probably benign	Het
Cdh12	A	T	15: 21,578,640 (GRCm39)		probably benign	Het
Chd1	A	G	17: 17,594,913 (GRCm39)	D16G	probably damaging	Het
Clstn2	A	G	9: 97,464,615 (GRCm39)	I180T	probably damaging	Het
Cxcr6	A	G	9: 123,639,550 (GRCm39)	I184V	probably benign	Het
Dagla	G	A	19: 10,225,831 (GRCm39)	P778S	possibly damaging	Het
Ddx19b	T	C	8: 111,747,613 (GRCm39)	K107R	probably benign	Het
Dpyd	G	A	3: 119,205,927 (GRCm39)		probably null	Het
Elf1	T	C	14: 79,804,650 (GRCm39)	V105A	possibly damaging	Het
Fam13a	T	G	6: 58,964,171 (GRCm39)	K87T	probably benign	Het
Fap	C	A	2: 62,363,354 (GRCm39)	S359I	probably damaging	Het
Fbxo39	T	C	11: 72,208,041 (GRCm39)	I131T	possibly damaging	Het
Fmn1	T	G	2: 113,412,463 (GRCm39)	S996A	probably damaging	Het
Gm5866	T	C	5: 52,740,088 (GRCm39)		noncoding transcript	Het
Hmcn2	C	T	2: 31,250,908 (GRCm39)	T790M	probably damaging	Het
Kat6b	A	G	14: 21,567,166 (GRCm39)	D75G	probably damaging	Het
Kcnab3	A	G	11: 69,219,389 (GRCm39)	T127A	probably damaging	Het
Kdm5b	G	T	1: 134,541,083 (GRCm39)	C725F	probably damaging	Het
Lrp5	G	A	19: 3,662,330 (GRCm39)	R173C	probably damaging	Het
Lrrn3	T	A	12: 41,502,869 (GRCm39)	I483L	probably damaging	Het
Man2c1	C	A	9: 57,047,661 (GRCm39)		probably benign	Het
Med23	G	T	10: 24,778,099 (GRCm39)	G810C	probably damaging	Het
Nhlrc4	T	A	17: 26,162,367 (GRCm39)	K127*	probably null	Het
Numb	T	C	12: 83,846,350 (GRCm39)	D344G	probably damaging	Het
Nup210l	T	G	3: 90,027,201 (GRCm39)	Y194*	probably null	Het
Ogg1	T	C	6: 113,310,804 (GRCm39)	V317A	possibly damaging	Het
Or1o2	T	A	17: 37,542,356 (GRCm39)	I302F	possibly damaging	Het
Or6c69c	A	G	10: 129,911,143 (GRCm39)	Y288C	probably damaging	Het
Pclo	A	T	5: 14,589,422 (GRCm39)		probably null	Het
Pnpt1	T	C	11: 29,088,174 (GRCm39)	M195T	probably benign	Het
Polr3c	T	A	3: 96,633,170 (GRCm39)	T43S	probably damaging	Het
Ptprs	T	C	17: 56,735,978 (GRCm39)	T152A	possibly damaging	Het
Rasl10b	A	T	11: 83,309,349 (GRCm39)	T134S	probably benign	Het
Rin2	C	T	2: 145,702,366 (GRCm39)	T354I	probably benign	Het
Rnf39	T	C	17: 37,258,121 (GRCm39)	W96R	probably damaging	Het
Ros1	G	T	10: 52,005,087 (GRCm39)	A949E	probably damaging	Het
Rwdd2a	A	C	9: 86,456,214 (GRCm39)	N130T	possibly damaging	Het
Scn9a	T	C	2: 66,313,992 (GRCm39)	N1909D	probably benign	Het
Shisal1	A	T	15: 84,290,886 (GRCm39)	Y120*	probably null	Het
Ska3	C	T	14: 58,047,534 (GRCm39)	V334I	probably benign	Het
Srebf2	A	G	15: 82,066,309 (GRCm39)	K579R	probably benign	Het
Sun1	A	G	5: 139,224,575 (GRCm39)		probably benign	Het
Tc2n	T	A	12: 101,660,833 (GRCm39)	Q133L	possibly damaging	Het
Tecta	T	C	9: 42,242,292 (GRCm39)	T2094A	probably damaging	Het
Tex2	T	C	11: 106,437,720 (GRCm39)	D650G	unknown	Het
Trio	A	G	15: 27,748,177 (GRCm39)	S2492P	probably damaging	Het
Ttn	T	C	2: 76,601,711 (GRCm39)	T16872A	probably benign	Het
Ugcg	T	C	4: 59,189,690 (GRCm39)	F16S	probably benign	Het
Usp16	T	C	16: 87,255,571 (GRCm39)	M1T	probably null	Het
Vmn1r60	C	A	7: 5,547,710 (GRCm39)	C130F	possibly damaging	Het
Vmn2r101	A	G	17: 19,809,919 (GRCm39)	D235G	probably benign	Het
Vpreb3	A	T	10: 75,775,800 (GRCm39)	V26E	probably benign	Het
Vps39	C	T	2: 120,172,497 (GRCm39)	V179I	possibly damaging	Het
Xrn2	T	C	2: 146,903,207 (GRCm39)	V765A	probably benign	Het
Zfp251	A	G	15: 76,737,836 (GRCm39)	I414T	possibly damaging	Het
Zfp426	A	T	9: 20,384,413 (GRCm39)		probably null	Het
Zfp61	T	C	7: 23,995,406 (GRCm39)	M1V	probably null	Het

Other mutations in Irf2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4305001:Irf2bp2	UTSW	8	127,319,398 (GRCm39)	missense	probably damaging	1.00
R4191:Irf2bp2	UTSW	8	127,320,084 (GRCm39)	missense	probably damaging	1.00
R4199:Irf2bp2	UTSW	8	127,318,313 (GRCm39)	missense	probably damaging	1.00
R4581:Irf2bp2	UTSW	8	127,317,994 (GRCm39)	missense	probably damaging	0.99
R4824:Irf2bp2	UTSW	8	127,318,172 (GRCm39)	missense	probably benign
R4993:Irf2bp2	UTSW	8	127,319,410 (GRCm39)	missense	probably benign	0.21
R7100:Irf2bp2	UTSW	8	127,318,472 (GRCm39)	missense	probably benign	0.02
R9074:Irf2bp2	UTSW	8	127,318,456 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- ATTGGGGACTGGCCATTCTG -3'
(R):5'- CAGGATCCCATGACTTGGCTTAC -3'

Sequencing Primer
(F):5'- ATTCTGGGCCGCTTCAGG -3'
(R):5'- CCATGACTTGGCTTACCTTGGAG -3'

Posted On

2015-03-25