Mutagenetix > Incidental Mutations

Incidental Mutation 'R4581:Irf2bp2'

343684

Institutional Source

Beutler Lab

Gene Symbol

Irf2bp2

Ensembl Gene

ENSMUSG00000051495

Gene Name

interferon regulatory factor 2 binding protein 2

Synonyms

E130305N23Rik

MMRRC Submission

041802-MU

Accession Numbers

Is this an essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

R4581 (G1)

Quality Score

220

Status

Not validated

Chromosome

Chromosomal Location

126588296-126593986 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 126591255 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 524 (Q524L)

Ref Sequence

ENSEMBL: ENSMUSP00000062753 (fasta)

Gene Model

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

AlphaFold

E9Q1P8

Predicted Effect

probably damaging
Transcript: ENSMUST00000054960
AA Change: Q524L

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000062753
Gene: ENSMUSG00000051495
AA Change: Q524L

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.1%

Validation Efficiency

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2410089E03Rik	C	A	15: 8,171,798	P20T	possibly damaging	Het
3425401B19Rik	G	T	14: 32,661,871	S712R	possibly damaging	Het
4933427I04Rik	A	G	4: 123,860,353	D20G	possibly damaging	Het
Abca7	A	G	10: 80,006,568	D1112G	probably benign	Het
Actc1	G	T	2: 114,049,608	H175N	possibly damaging	Het
Adgrd1	C	T	5: 129,202,531	A863V	possibly damaging	Het
Ankrd17	T	C	5: 90,283,120	D935G	possibly damaging	Het
Ankrd7	T	A	6: 18,868,021	N95K	probably damaging	Het
Arhgef4	G	A	1: 34,732,124	E1171K	possibly damaging	Het
Ascc3	T	C	10: 50,711,025	I991T	probably damaging	Het
Cacna1s	T	A	1: 136,070,970		probably null	Het
Camk1d	A	T	2: 5,354,704	V177E	probably benign	Het
Cdh18	T	A	15: 23,226,783	I110N	probably damaging	Het
Cenpe	A	G	3: 135,247,000	K1484E	probably benign	Het
Cep68	A	G	11: 20,239,333	S560P	probably benign	Het
Cog3	G	T	14: 75,732,951	T352K	probably benign	Het
Cox6a2	A	G	7: 128,205,980	S44P	possibly damaging	Het
Csmd2	T	C	4: 128,369,088	V689A	probably benign	Het
Ddx60	A	T	8: 62,023,261	M1548L	possibly damaging	Het
Dennd5b	G	T	6: 149,016,984		silent	Het
Dlgap2	T	C	8: 14,846,679	Y1052H	probably damaging	Het
Dnaaf5	T	A	5: 139,184,685	D502E	probably damaging	Het
Efhb	C	A	17: 53,426,275	A523S	probably damaging	Het
Epha8	C	T	4: 136,933,464	V648M	probably damaging	Het
Fanca	C	T	8: 123,274,338		probably null	Het
Fbxw7	G	A	3: 84,967,545	E205K	probably benign	Het
Fer1l6	C	T	15: 58,640,226	T1514I	probably damaging	Het
Gm12886	T	C	4: 121,416,683	E112G	probably damaging	Het
Gm7535	T	C	17: 17,911,083		probably benign	Het
Itih4	A	G	14: 30,900,968	D864G	probably benign	Het
Kdm4c	T	G	4: 74,357,339		probably null	Het
Ltn1	A	T	16: 87,402,024		probably null	Het
Mafa	G	T	15: 75,747,736	P63T	unknown	Het
Mars2	T	A	1: 55,237,862	L208H	probably damaging	Het
Myom2	A	G	8: 15,106,459	I769V	probably benign	Het
Nyap1	A	G	5: 137,736,022	S250P	probably damaging	Het
Olfr1082	A	T	2: 86,594,228	M200K	probably benign	Het
Osmr	C	T	15: 6,842,894	V240I	probably benign	Het
Pcdhga3	A	G	18: 37,676,881	T796A	probably benign	Het
Pclo	T	C	5: 14,675,505	V1459A	unknown	Het
Phactr3	A	C	2: 178,283,172	H300P	probably damaging	Het
Pla2g4e	T	G	2: 120,186,382	H226P	possibly damaging	Het
Plcd4	T	A	1: 74,548,224	W48R	probably damaging	Het
Prdm16	A	G	4: 154,323,353	S1140P	probably damaging	Het
Rarg	A	C	15: 102,252,551	S18A	possibly damaging	Het
Rfx4	T	A	10: 84,844,300	S114T	possibly damaging	Het
Sec14l4	G	A	11: 4,043,375		probably null	Het
Six1	T	G	12: 73,045,934	T165P	probably benign	Het
Skint4	T	C	4: 112,087,042	L17P	probably damaging	Het
Slc25a23	T	A	17: 57,052,740	Y337F	probably damaging	Het
Slc9a3	A	G	13: 74,164,165	Y627C	probably damaging	Het
Smu1	A	C	4: 40,737,401		probably null	Het
Spryd3	A	G	15: 102,130,364	S141P	probably damaging	Het
Src	A	T	2: 157,463,038	N175I	probably damaging	Het
Srcap	GCTCCTCCTCCTCCTCCT	GCTCCTCCTCCTCCT	7: 127,558,310		probably benign	Het
Stc2	A	G	11: 31,365,326		probably null	Het
Taf6l	T	C	19: 8,778,208	D261G	probably damaging	Het
Tal1	T	G	4: 115,064,722	V167G	probably damaging	Het
Tfec	G	A	6: 16,834,125	T261I	probably damaging	Het
Tgfb1	G	T	7: 25,697,230	S273I	possibly damaging	Het
Tmem8b	T	A	4: 43,685,760	V636E	probably damaging	Het
Top2b	T	G	14: 16,409,189	I777M	probably damaging	Het
Trappc11	A	T	8: 47,493,345	M1084K	probably damaging	Het
Trem3	A	C	17: 48,249,611	T37P	possibly damaging	Het
Ttc7b	G	A	12: 100,500,117	R79C	probably damaging	Het
Urb1	T	C	16: 90,788,146	D529G	probably benign	Het
Vmn2r8	T	A	5: 108,801,704	T426S	probably benign	Het
Yipf4	T	C	17: 74,499,094	Y243H	probably benign	Het
Zfp574	T	A	7: 25,081,313	C587S	probably damaging	Het
Zfp93	C	A	7: 24,275,668	H359Q	probably damaging	Het
Znfx1	T	C	2: 167,050,316	E660G	probably damaging	Het

Other mutations in Irf2bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
PIT4305001:Irf2bp2	UTSW	8	126592659	missense	probably damaging	1.00
R3771:Irf2bp2	UTSW	8	126591811	missense	probably damaging	1.00
R4191:Irf2bp2	UTSW	8	126593345	missense	probably damaging	1.00
R4199:Irf2bp2	UTSW	8	126591574	missense	probably damaging	1.00
R4824:Irf2bp2	UTSW	8	126591433	missense	probably benign
R4993:Irf2bp2	UTSW	8	126592671	missense	probably benign	0.21
R7100:Irf2bp2	UTSW	8	126591733	missense	probably benign	0.02
R9074:Irf2bp2	UTSW	8	126591717	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- TGGGCTTTTCTGAACGCAG -3'
(R):5'- TCTATGAACCAAAGAAGGCTTGG -3'

Sequencing Primer
(F):5'- GCAGAAAGTCACGAGTCTCTCTC -3'
(R):5'- TTGGCCCCAGAGAGGTG -3'

Posted On

2015-09-24