Mutagenetix > Incidental Mutation

Incidental Mutation 'R7100:Irf2bp2'

550769

Institutional Source

Beutler Lab

Gene Symbol

Irf2bp2

Ensembl Gene

ENSMUSG00000051495

Gene Name

interferon regulatory factor 2 binding protein 2

Synonyms

E130305N23Rik

MMRRC Submission

045192-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.799) question?

Stock #

R7100 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

127315035-127320725 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 127318472 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 365 (T365A)

Ref Sequence

ENSEMBL: ENSMUSP00000062753 (fasta)

Gene Model

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

AlphaFold

E9Q1P8

Predicted Effect

probably benign
Transcript: ENSMUST00000054960
AA Change: T365A

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000062753
Gene: ENSMUSG00000051495
AA Change: T365A

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

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

Validation Efficiency

98% (54/55)

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: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl10	A	G	2: 154,394,315 (GRCm39)	E89G	probably damaging	Het
Adgrv1	A	T	13: 81,419,016 (GRCm39)	V5993E	probably damaging	Het
Amdhd1	T	C	10: 93,372,936 (GRCm39)		probably null	Het
Amph	T	C	13: 19,334,011 (GRCm39)	*691Q	probably null	Het
Ankrd55	A	G	13: 112,492,644 (GRCm39)	K272E	probably benign	Het
Arhgef10l	C	T	4: 140,244,126 (GRCm39)	V838I	possibly damaging	Het
Arl2	C	A	19: 6,184,774 (GRCm39)	V160F	probably benign	Het
Catsperb	T	C	12: 101,412,297 (GRCm39)	V128A	possibly damaging	Het
Cdk11b	T	A	4: 155,710,050 (GRCm39)	L17H	probably damaging	Het
Cpsf1	A	T	15: 76,480,314 (GRCm39)	N1391K	possibly damaging	Het
Cpxm2	C	T	7: 131,656,544 (GRCm39)	A573T	probably benign	Het
Cspg4b	T	A	13: 113,455,501 (GRCm39)	F516I		Het
Daxx	T	C	17: 34,130,416 (GRCm39)	S144P	probably damaging	Het
Dpp3	T	C	19: 4,968,069 (GRCm39)	D303G	probably damaging	Het
Fam181a	T	A	12: 103,282,132 (GRCm39)	N12K	probably damaging	Het
Flg2	A	T	3: 93,111,018 (GRCm39)	R1015S	unknown	Het
Fstl5	A	G	3: 76,443,600 (GRCm39)	H315R	probably benign	Het
Fut4	A	G	9: 14,662,689 (GRCm39)	S202P	probably damaging	Het
Gm5114	T	C	7: 39,057,708 (GRCm39)	D637G	possibly damaging	Het
Gstcd	G	T	3: 132,790,704 (GRCm39)	T21K	probably benign	Het
Heca	C	T	10: 17,791,121 (GRCm39)	V312M	probably benign	Het
Herpud1	A	G	8: 95,117,475 (GRCm39)	R144G	probably damaging	Het
Hycc2	T	A	1: 58,573,653 (GRCm39)	T384S	possibly damaging	Het
Ino80	A	G	2: 119,204,994 (GRCm39)	S1511P	possibly damaging	Het
Klk1	G	A	7: 43,878,848 (GRCm39)	G214E	probably damaging	Het
Lama3	A	T	18: 12,715,701 (GRCm39)	N1719I	possibly damaging	Het
Lmna	A	G	3: 88,392,297 (GRCm39)	I365T	probably damaging	Het
Lrp8	C	A	4: 107,659,647 (GRCm39)	A13E	possibly damaging	Het
Ly75	A	G	2: 60,136,778 (GRCm39)	L1483P	probably benign	Het
Maco1	T	C	4: 134,533,971 (GRCm39)	D550G	probably damaging	Het
Mid1	A	G	X: 168,768,073 (GRCm39)	D407G	probably benign	Het
Mpl	G	T	4: 118,314,607 (GRCm39)	A21E		Het
Mus81	C	T	19: 5,534,239 (GRCm39)	G360S	probably damaging	Het
Nmt2	T	A	2: 3,313,950 (GRCm39)	S250T	probably benign	Het
Nr1d1	C	A	11: 98,662,160 (GRCm39)	R158L	probably damaging	Het
Pcgf6	G	A	19: 47,039,153 (GRCm39)	P36S	unknown	Het
Pcnx2	G	A	8: 126,485,853 (GRCm39)	A1915V	probably benign	Het
Peak1	A	G	9: 56,166,677 (GRCm39)	V417A	probably damaging	Het
Phf20l1	A	G	15: 66,476,689 (GRCm39)	N262S	probably benign	Het
Plaat5	T	A	19: 7,616,923 (GRCm39)	F313I	unknown	Het
Ppp2r5d	A	G	17: 46,996,608 (GRCm39)	V355A	probably benign	Het
Rasa3	T	C	8: 13,636,897 (GRCm39)	T395A	probably benign	Het
Rims1	T	A	1: 22,416,697 (GRCm39)	I432F	probably benign	Het
Rnf123	C	T	9: 107,933,838 (GRCm39)	C1080Y	probably damaging	Het
Serpina3g	T	C	12: 104,204,570 (GRCm39)		probably benign	Het
Shank2	T	A	7: 143,964,901 (GRCm39)	D836E	possibly damaging	Het
Slc24a5	A	C	2: 124,922,591 (GRCm39)	S118R	probably damaging	Het
Smg1	G	T	7: 117,783,743 (GRCm39)	H1048N	unknown	Het
Specc1l	T	G	10: 75,081,329 (GRCm39)	S242A	probably benign	Het
Tagap1	A	T	17: 7,224,111 (GRCm39)	L195Q	possibly damaging	Het
Trpc3	C	A	3: 36,704,216 (GRCm39)	E580D	probably benign	Het
Ttn	A	T	2: 76,541,166 (GRCm39)	V33940E	probably benign	Het
Upp2	G	T	2: 58,681,817 (GRCm39)	R318L	probably benign	Het
Vezt	T	A	10: 93,832,795 (GRCm39)	E205D	probably benign	Het
Vmn1r177	A	G	7: 23,565,535 (GRCm39)	F114L	probably benign	Het
Vmn2r53	C	A	7: 12,315,513 (GRCm39)	E769*	probably null	Het
Vnn3	T	C	10: 23,741,840 (GRCm39)	Y382H	probably damaging	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
R3771:Irf2bp2	UTSW	8	127,318,550 (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
R9074:Irf2bp2	UTSW	8	127,318,456 (GRCm39)	missense	probably benign	0.02

Predicted Primers

PCR Primer
(F):5'- CATCTTTTGAGGCGTGACTGC -3'
(R):5'- ATTAGGGGAAATGTTTGAAGCTGC -3'

Sequencing Primer
(F):5'- AAATCAGGGCTGCCATTG -3'
(R):5'- TTTGAAGCTGCGTGCAGAAC -3'

Posted On

2019-05-15