Mutagenetix > Incidental Mutation

Incidental Mutation 'R0218:Irf2bpl'

33679

Institutional Source

Beutler Lab

Gene Symbol

Irf2bpl

Ensembl Gene

ENSMUSG00000034168

Gene Name

interferon regulatory factor 2 binding protein-like

Synonyms

6430527G18Rik

MMRRC Submission

038467-MU

Accession Numbers

Essential gene?

Possibly non essential (E-score: 0.381) question?

Stock #

R0218 (G1)

Quality Score

195

Status

Validated

Chromosome

Chromosomal Location

86927475-86931572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 86929398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 425 (M425K)

Ref Sequence

ENSEMBL: ENSMUSP00000041070 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000038422]

AlphaFold

Q8K3X4

Predicted Effect

probably benign
Transcript: ENSMUST00000038422
AA Change: M425K

PolyPhen 2 Score 0.024 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: M425K

Domain	Start	End	E-Value	Type
Pfam:IRF-2BP1_2	10	61	2e-38	PFAM
low complexity region	70	78	N/A	INTRINSIC
coiled coil region	84	113	N/A	INTRINSIC
low complexity region	169	178	N/A	INTRINSIC
low complexity region	195	207	N/A	INTRINSIC
low complexity region	214	234	N/A	INTRINSIC
low complexity region	258	300	N/A	INTRINSIC
coiled coil region	314	350	N/A	INTRINSIC
low complexity region	496	519	N/A	INTRINSIC
low complexity region	562	584	N/A	INTRINSIC
low complexity region	627	646	N/A	INTRINSIC
PDB:2CS3\|A	684	765	7e-52	PDB
SCOP:d1fbva4	692	738	4e-6	SMART
Blast:RING	694	745	4e-24	BLAST

Meta Mutation Damage Score

0.1217

Coding Region Coverage

1x: 99.0%
3x: 98.2%
10x: 96.0%
20x: 91.7%

Validation Efficiency

98% (53/54)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a transcription factor that may play a role in regulating female reproductive function. [provided by RefSeq, Jun 2012]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam34l	T	G	8: 44,079,477 (GRCm39)	Q249P	probably benign	Het
Adgrv1	C	T	13: 81,255,017 (GRCm39)		probably null	Het
Ccdc110	A	G	8: 46,387,761 (GRCm39)		probably benign	Het
Cd200r1	T	A	16: 44,609,106 (GRCm39)		probably benign	Het
Cdkl1	A	T	12: 69,836,809 (GRCm39)	D40E	probably benign	Het
Cdx1	A	G	18: 61,153,436 (GRCm39)		probably benign	Het
Cenpp	T	A	13: 49,801,108 (GRCm39)	K103N	possibly damaging	Het
Cep162	A	G	9: 87,093,862 (GRCm39)	Y839H	possibly damaging	Het
Chac1	T	A	2: 119,183,941 (GRCm39)	L181*	probably null	Het
Ciapin1	G	T	8: 95,554,938 (GRCm39)	Q173K	probably damaging	Het
Cmklr2	T	A	1: 63,222,690 (GRCm39)	N182Y	probably benign	Het
Dgcr2	A	G	16: 17,667,650 (GRCm39)	C270R	probably damaging	Het
Dlc1	A	G	8: 37,317,383 (GRCm39)	S431P	probably benign	Het
Efcab12	T	C	6: 115,791,611 (GRCm39)		probably benign	Het
Ehbp1	A	T	11: 22,181,992 (GRCm39)		probably benign	Het
Enpp3	A	T	10: 24,652,767 (GRCm39)	V730D	possibly damaging	Het
Fam174b	A	G	7: 73,390,512 (GRCm39)	T88A	probably benign	Het
Fancl	A	G	11: 26,421,337 (GRCm39)	K364E	probably benign	Het
Fbp2	A	T	13: 63,001,862 (GRCm39)	F118I	probably damaging	Het
Galc	A	G	12: 98,188,906 (GRCm39)	Y402H	probably damaging	Het
Gga2	T	C	7: 121,598,123 (GRCm39)	N324D	possibly damaging	Het
Hc	G	T	2: 34,918,086 (GRCm39)	F732L	probably damaging	Het
Heca	T	C	10: 17,791,463 (GRCm39)	M198V	probably benign	Het
Herc6	C	A	6: 57,596,586 (GRCm39)	H509N	probably benign	Het
Mael	C	T	1: 166,066,159 (GRCm39)	G26D	probably damaging	Het
Map1a	A	G	2: 121,135,906 (GRCm39)	T2241A	probably benign	Het
Mcc	C	G	18: 44,652,583 (GRCm39)		probably benign	Het
Mdga2	A	G	12: 66,701,894 (GRCm39)	S505P	probably damaging	Het
Mdm1	A	G	10: 117,992,783 (GRCm39)		probably benign	Het
Mex3b	A	T	7: 82,518,312 (GRCm39)	E209V	probably damaging	Het
Mrgprx3-ps	T	C	7: 46,959,154 (GRCm39)	E279G	possibly damaging	Het
Ms4a20	A	T	19: 11,093,801 (GRCm39)	Y10*	probably null	Het
Nfe2l1	A	T	11: 96,718,439 (GRCm39)	L32Q	probably damaging	Het
Npas1	C	T	7: 16,195,818 (GRCm39)	V285I	probably benign	Het
Or5e1	T	A	7: 108,354,781 (GRCm39)	C239*	probably null	Het
Or5h19	C	T	16: 58,856,456 (GRCm39)	V215I	probably benign	Het
Or9i14	T	C	19: 13,792,342 (GRCm39)	N204S	probably benign	Het
Osr1	A	G	12: 9,629,639 (GRCm39)	T171A	probably benign	Het
Ppp3cb	A	T	14: 20,574,044 (GRCm39)	C265S	probably damaging	Het
Pramel27	A	G	4: 143,578,401 (GRCm39)	I220M	probably damaging	Het
Sephs1	A	G	2: 4,904,371 (GRCm39)	T250A	probably benign	Het
Simc1	T	C	13: 54,674,417 (GRCm39)	Y922H	probably damaging	Het
Slc25a39	A	G	11: 102,297,056 (GRCm39)	F56L	probably benign	Het
Smg8	A	G	11: 86,976,948 (GRCm39)	L211P	probably damaging	Het
Sncaip	A	G	18: 53,040,400 (GRCm39)	S805G	probably benign	Het
Sra1	T	C	18: 36,809,662 (GRCm39)		probably benign	Het
Tas2r104	T	G	6: 131,662,055 (GRCm39)	D218A	probably damaging	Het
Unc45b	A	G	11: 82,802,686 (GRCm39)		probably benign	Het
Unc79	A	G	12: 103,075,040 (GRCm39)		probably null	Het
Washc2	T	A	6: 116,225,007 (GRCm39)	L785*	probably null	Het
Zfp30	A	G	7: 29,493,063 (GRCm39)	E439G	probably damaging	Het
Zfp518a	A	G	19: 40,901,072 (GRCm39)	T334A	probably benign	Het

Other mutations in Irf2bpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03343:Irf2bpl	APN	12	86,929,713 (GRCm39)	missense	possibly damaging	0.72
twig	UTSW	12	86,930,238 (GRCm39)	missense	probably benign	0.01
PIT1430001:Irf2bpl	UTSW	12	86,930,229 (GRCm39)	missense	possibly damaging	0.91
R0371:Irf2bpl	UTSW	12	86,928,417 (GRCm39)	nonsense	probably null
R0426:Irf2bpl	UTSW	12	86,929,870 (GRCm39)	missense	probably benign	0.06
R1351:Irf2bpl	UTSW	12	86,929,398 (GRCm39)	missense	probably benign	0.02
R2881:Irf2bpl	UTSW	12	86,929,551 (GRCm39)	missense	probably damaging	0.98
R3610:Irf2bpl	UTSW	12	86,928,631 (GRCm39)	missense	probably benign	0.03
R4206:Irf2bpl	UTSW	12	86,929,810 (GRCm39)	missense	probably benign	0.00
R4240:Irf2bpl	UTSW	12	86,929,691 (GRCm39)	missense	possibly damaging	0.73
R4938:Irf2bpl	UTSW	12	86,928,892 (GRCm39)	missense	possibly damaging	0.73
R5451:Irf2bpl	UTSW	12	86,928,846 (GRCm39)	missense	probably benign	0.33
R6213:Irf2bpl	UTSW	12	86,930,367 (GRCm39)	missense	probably benign	0.18
R6491:Irf2bpl	UTSW	12	86,930,238 (GRCm39)	missense	probably benign	0.01
R6969:Irf2bpl	UTSW	12	86,929,468 (GRCm39)	missense	possibly damaging	0.86
R7151:Irf2bpl	UTSW	12	86,930,127 (GRCm39)	missense	probably benign	0.00
R7649:Irf2bpl	UTSW	12	86,929,572 (GRCm39)	missense	possibly damaging	0.96
R7751:Irf2bpl	UTSW	12	86,930,489 (GRCm39)	missense	probably damaging	0.99
R8711:Irf2bpl	UTSW	12	86,928,496 (GRCm39)	missense	probably benign	0.03
R8857:Irf2bpl	UTSW	12	86,929,359 (GRCm39)	missense	possibly damaging	0.96
X0066:Irf2bpl	UTSW	12	86,928,424 (GRCm39)	missense	probably benign	0.33

Predicted Primers

PCR Primer
(F):5'- TGTGCCCAAAGTGTCTGCTACC -3'
(R):5'- TGCGCTTCAAGAAGGACCACTC -3'

Sequencing Primer
(F):5'- ACATCGTGAGCTTCAGCG -3'
(R):5'- AGAAGGACCACTCGCTTTTG -3'

Posted On

2013-05-09