Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01376:Irf2bp1'

78722

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 #

IGL01376

Quality Score

Status

Chromosome

Chromosomal Location

18737983-18740688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 18739952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 531 (S531P)

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: S531P

PolyPhen 2 Score 0.856 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: S531P

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: 34 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930568D16Rik	A	T	2: 35,245,640 (GRCm39)	I61K	probably benign	Het
Acot12	A	G	13: 91,932,790 (GRCm39)	Y521C	probably damaging	Het
Anxa7	T	C	14: 20,510,524 (GRCm39)	N313D	probably benign	Het
Cdk14	T	C	5: 5,060,839 (GRCm39)	I327M	probably damaging	Het
Clca3b	T	C	3: 144,531,812 (GRCm39)	N664S	possibly damaging	Het
Cpb1	A	C	3: 20,324,488 (GRCm39)	L62R	probably benign	Het
Cracdl	A	G	1: 37,667,425 (GRCm39)	L207P	probably damaging	Het
Eef2	G	A	10: 81,013,883 (GRCm39)		probably benign	Het
Enox1	T	C	14: 77,489,283 (GRCm39)		probably benign	Het
Esco1	A	T	18: 10,594,892 (GRCm39)	C131*	probably null	Het
Etv1	A	T	12: 38,907,039 (GRCm39)	D347V	probably damaging	Het
Fat1	A	G	8: 45,479,878 (GRCm39)	I2975V	probably benign	Het
Ghsr	A	G	3: 27,425,977 (GRCm39)	E11G	probably benign	Het
Gins4	T	C	8: 23,717,343 (GRCm39)	D166G	probably benign	Het
Iglv2	G	T	16: 19,079,315 (GRCm39)	H62N	possibly damaging	Het
Lrig3	T	A	10: 125,830,335 (GRCm39)	F144L	probably benign	Het
Magi1	C	T	6: 94,260,074 (GRCm39)	R77Q	possibly damaging	Het
Mlkl	A	G	8: 112,046,379 (GRCm39)	L298P	probably damaging	Het
Ndc1	T	C	4: 107,232,394 (GRCm39)	L193P	probably damaging	Het
Npas3	A	T	12: 54,091,369 (GRCm39)	T308S	probably benign	Het
Nt5dc3	A	T	10: 86,670,028 (GRCm39)	Q541L	probably benign	Het
Or10ag53	T	C	2: 87,083,217 (GRCm39)	V312A	possibly damaging	Het
Or8k37	A	C	2: 86,469,953 (GRCm39)	V33G	probably benign	Het
Parp10	G	T	15: 76,125,877 (GRCm39)	T437K	probably benign	Het
Phf3	A	G	1: 30,869,566 (GRCm39)	V494A	possibly damaging	Het
Prpf8	C	A	11: 75,385,121 (GRCm39)	A794D	possibly damaging	Het
Sars2	T	A	7: 28,449,308 (GRCm39)	Y307N	probably damaging	Het
Serping1	A	T	2: 84,600,529 (GRCm39)	V271E	probably damaging	Het
Sgpl1	G	A	10: 60,949,849 (GRCm39)	P117S	probably damaging	Het
Slc38a1	A	C	15: 96,483,437 (GRCm39)	L297R	probably damaging	Het
Strbp	A	G	2: 37,535,663 (GRCm39)	M15T	probably damaging	Het
Tdp2	A	G	13: 25,020,932 (GRCm39)		probably null	Het
Tex10	T	C	4: 48,456,740 (GRCm39)	Y657C	possibly damaging	Het
Xrcc4	A	T	13: 90,210,169 (GRCm39)	S92T	probably benign	Het

Other mutations in Irf2bp1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01983:Irf2bp1	APN	7	18,739,220 (GRCm39)	missense	possibly damaging	0.70
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

2013-11-05