Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01983:Irf2bp1'

183525

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Irf2bp1

Ensembl Gene

ENSMUSG00000044030

Gene Name

interferon regulatory factor 2 binding protein 1

Synonyms

6330414O09Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

IGL01983

Quality Score

Status

Chromosome

Chromosomal Location

18737983-18740688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18739220 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 287 (A287S)

Ref Sequence

ENSEMBL: ENSMUSP00000061234 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000053713] [ENSMUST00000059331] [ENSMUST00000131087]

AlphaFold

Q8R3Y8

Predicted Effect

possibly damaging
Transcript: ENSMUST00000053713
AA Change: A287S

PolyPhen 2 Score 0.705 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: A287S

Domain	Start	End	E-Value	Type
Pfam:IRF-2BP1_2	8	59	9.5e-37	PFAM
low complexity region	82	105	N/A	INTRINSIC
low complexity region	114	128	N/A	INTRINSIC
low complexity region	139	156	N/A	INTRINSIC
low complexity region	165	179	N/A	INTRINSIC
low complexity region	441	458	N/A	INTRINSIC
low complexity region	481	500	N/A	INTRINSIC
Pfam:zf-C3HC4	503	549	1.9e-6	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000059331

SMART Domains

Protein: ENSMUSP00000058718
Gene: ENSMUSG00000048481

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
SANT	20	90	4.06e-5	SMART
low complexity region	125	157	N/A	INTRINSIC
low complexity region	212	250	N/A	INTRINSIC
low complexity region	278	322	N/A	INTRINSIC
low complexity region	323	347	N/A	INTRINSIC
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000124897

Predicted Effect

probably benign
Transcript: ENSMUST00000131087

SMART Domains

Protein: ENSMUSP00000117357
Gene: ENSMUSG00000048481

Domain	Start	End	E-Value	Type
low complexity region	2	17	N/A	INTRINSIC
SANT	20	90	4.06e-5	SMART
low complexity region	125	157	N/A	INTRINSIC
low complexity region	212	250	N/A	INTRINSIC
low complexity region	278	322	N/A	INTRINSIC
low complexity region	323	347	N/A	INTRINSIC
low complexity region	358	374	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206304

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000206381

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 32 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acadl	G	A	1: 66,880,783 (GRCm39)	Q328*	probably null	Het
Alpk2	T	C	18: 65,483,753 (GRCm39)	Y85C	probably damaging	Het
Arhgap31	C	T	16: 38,422,127 (GRCm39)	R1313Q	probably damaging	Het
Chrnb1	G	T	11: 69,686,555 (GRCm39)	R22S	probably benign	Het
Clec7a	G	A	6: 129,442,539 (GRCm39)		probably benign	Het
Cyrib	A	G	15: 63,809,236 (GRCm39)	S251P	probably benign	Het
Epb41l5	A	G	1: 119,506,814 (GRCm39)		probably benign	Het
Hdac1-ps	T	A	17: 78,800,282 (GRCm39)	D424E	probably benign	Het
Hydin	A	C	8: 111,241,527 (GRCm39)	I2106L	probably benign	Het
Igkv3-5	T	A	6: 70,640,670 (GRCm39)	D50E	probably benign	Het
Ldb3	G	A	14: 34,299,156 (GRCm39)	S156L	probably benign	Het
Lnpep	A	T	17: 17,751,440 (GRCm39)	W942R	probably damaging	Het
Mst1r	T	A	9: 107,794,475 (GRCm39)	V1218D	probably damaging	Het
Naxd	G	T	8: 11,560,218 (GRCm39)		probably benign	Het
Nol9	T	C	4: 152,130,494 (GRCm39)		probably null	Het
Nus1	T	A	10: 52,312,753 (GRCm39)	L295Q	probably damaging	Het
Nxph2	A	G	2: 23,289,946 (GRCm39)	I99M	probably benign	Het
Plekhg1	T	A	10: 3,895,904 (GRCm39)	I432N	probably damaging	Het
Pon3	A	G	6: 5,240,974 (GRCm39)	L69S	probably damaging	Het
Pram1	C	A	17: 33,859,835 (GRCm39)	A134D	probably damaging	Het
Serpinb6c	T	A	13: 34,081,317 (GRCm39)		probably benign	Het
Stk10	A	T	11: 32,539,460 (GRCm39)	E280V	probably benign	Het
Tbc1d10c	T	A	19: 4,240,708 (GRCm39)	Q34L	possibly damaging	Het
Tnr	G	A	1: 159,691,349 (GRCm39)	V500I	probably benign	Het
Trim66	G	A	7: 109,057,458 (GRCm39)	R992*	probably null	Het
Unc45b	A	G	11: 82,827,687 (GRCm39)	D728G	probably benign	Het
Usp13	A	G	3: 32,971,608 (GRCm39)	D696G	probably damaging	Het
Utrn	C	T	10: 12,545,525 (GRCm39)	V1707I	probably benign	Het
Vmn2r96	A	T	17: 18,817,527 (GRCm39)	H368L	probably damaging	Het
Xrn1	T	C	9: 95,855,421 (GRCm39)		probably null	Het
Zfhx3	C	A	8: 109,673,866 (GRCm39)	L1639M	probably damaging	Het
Znfx1	A	T	2: 166,898,270 (GRCm39)	V218E	probably damaging	Het

Other mutations in Irf2bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01376:Irf2bp1	APN	7	18,739,952 (GRCm39)	missense	possibly damaging	0.86
R0063:Irf2bp1	UTSW	7	18,739,772 (GRCm39)	missense	possibly damaging	0.91
R0255:Irf2bp1	UTSW	7	18,738,927 (GRCm39)	missense	possibly damaging	0.91
R0849:Irf2bp1	UTSW	7	18,738,659 (GRCm39)	missense	possibly damaging	0.73
R2250:Irf2bp1	UTSW	7	18,739,724 (GRCm39)	missense	probably benign	0.12
R3972:Irf2bp1	UTSW	7	18,739,369 (GRCm39)	missense	possibly damaging	0.70
R4703:Irf2bp1	UTSW	7	18,739,496 (GRCm39)	missense	possibly damaging	0.91
R5290:Irf2bp1	UTSW	7	18,738,923 (GRCm39)	missense	possibly damaging	0.85
R5729:Irf2bp1	UTSW	7	18,739,172 (GRCm39)	nonsense	probably null
R5902:Irf2bp1	UTSW	7	18,738,372 (GRCm39)	missense	probably benign	0.07
R6874:Irf2bp1	UTSW	7	18,739,142 (GRCm39)	missense	possibly damaging	0.70
R8260:Irf2bp1	UTSW	7	18,740,079 (GRCm39)	missense	possibly damaging	0.85
R9291:Irf2bp1	UTSW	7	18,738,458 (GRCm39)	missense	probably damaging	1.00
R9295:Irf2bp1	UTSW	7	18,739,740 (GRCm39)	missense	probably benign

Posted On

2014-05-07