Mutagenetix > Incidental Mutation

Incidental Mutation 'R4206:Irf2bpl'

318931

Institutional Source

Beutler Lab

Gene Symbol

Irf2bpl

Ensembl Gene

ENSMUSG00000034168

Gene Name

interferon regulatory factor 2 binding protein-like

Synonyms

6430527G18Rik

MMRRC Submission

041035-MU

Accession Numbers

Essential gene?

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

Stock #

R4206 (G1)

Quality Score

181

Status

Not validated

Chromosome

Chromosomal Location

86927475-86931572 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 86929810 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 288 (V288I)

Ref Sequence

ENSEMBL: ENSMUSP00000041070 (fasta)

Gene Model

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

AlphaFold

Q8K3X4

Predicted Effect

probably benign
Transcript: ENSMUST00000038422
AA Change: V288I

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000041070
Gene: ENSMUSG00000034168
AA Change: V288I

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.5%

Validation Efficiency

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: 49 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921509C19Rik	T	C	2: 151,315,435 (GRCm39)	K81R	probably benign	Het
Acacb	T	C	5: 114,351,712 (GRCm39)	F1150L	probably benign	Het
Acat3	A	G	17: 13,146,273 (GRCm39)	Y237H	possibly damaging	Het
Arfgap3	T	C	15: 83,206,869 (GRCm39)	T240A	probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cabin1	T	C	10: 75,590,675 (GRCm39)	S23G	possibly damaging	Het
Cemip2	G	T	19: 21,819,479 (GRCm39)	R1090L	probably damaging	Het
Clasp1	A	G	1: 118,506,636 (GRCm39)	N949S	probably damaging	Het
Csrp1	T	G	1: 135,673,065 (GRCm39)	C61G	probably damaging	Het
Dgka	A	T	10: 128,557,064 (GRCm39)	L637Q	probably damaging	Het
Dst	G	A	1: 34,251,328 (GRCm39)	R1801H	probably damaging	Het
Edil3	T	C	13: 89,328,397 (GRCm39)	S284P	probably damaging	Het
Eif2d	A	G	1: 131,082,100 (GRCm39)	Y64C	probably damaging	Het
Ell2	A	G	13: 75,910,067 (GRCm39)	D139G	probably damaging	Het
Fam187a	A	G	11: 102,777,038 (GRCm39)	R281G	probably damaging	Het
Gin1	A	G	1: 97,720,145 (GRCm39)	D380G	possibly damaging	Het
Gpr149	T	G	3: 62,511,924 (GRCm39)	D25A	possibly damaging	Het
Gyg1	A	G	3: 20,206,901 (GRCm39)	S90P	probably benign	Het
Hpx	C	T	7: 105,244,354 (GRCm39)	M190I	probably null	Het
Lyst	A	G	13: 13,810,574 (GRCm39)	H748R	probably benign	Het
Mmrn1	G	A	6: 60,935,164 (GRCm39)	G220D	probably damaging	Het
Mpdz	A	T	4: 81,299,999 (GRCm39)	M333K	probably benign	Het
Muc5ac	C	T	7: 141,370,847 (GRCm39)	S2556F	possibly damaging	Het
Nfix	CAAAAA	CAAAA	8: 85,442,876 (GRCm39)		probably null	Het
Ntsr1	A	G	2: 180,142,545 (GRCm39)	D112G	probably damaging	Het
Or56b1	T	A	7: 104,285,356 (GRCm39)	N158K	possibly damaging	Het
Or7a42	T	C	10: 78,791,117 (GRCm39)	F26S	probably benign	Het
Or9s14	A	C	1: 92,536,317 (GRCm39)	T253P	possibly damaging	Het
Parg	A	G	14: 31,976,493 (GRCm39)	K178R	probably benign	Het
Pde8b	C	A	13: 95,359,053 (GRCm39)	C90F	probably benign	Het
Pld1	G	A	3: 28,174,932 (GRCm39)	V857I	probably benign	Het
Rad54l2	A	C	9: 106,594,994 (GRCm39)	V321G	probably damaging	Het
Rcn2	A	G	9: 55,952,491 (GRCm39)	Y112C	possibly damaging	Het
Rnf123	A	T	9: 107,941,162 (GRCm39)	D639E	probably benign	Het
Rufy2	C	T	10: 62,840,551 (GRCm39)	Q441*	probably null	Het
Scgb2b12	T	C	7: 32,026,063 (GRCm39)	Y43C	probably damaging	Het
Scrn3	T	A	2: 73,149,845 (GRCm39)		probably null	Het
Shroom3	G	T	5: 93,090,945 (GRCm39)	V1151F	probably damaging	Het
Slc22a8	T	C	19: 8,585,597 (GRCm39)	S321P	probably benign	Het
Tex11	C	A	X: 99,977,021 (GRCm39)	A487S	possibly damaging	Het
Tex2	A	G	11: 106,458,398 (GRCm39)		probably benign	Het
Trip13	A	G	13: 74,081,009 (GRCm39)	I119T	probably benign	Het
Tsku	C	T	7: 98,002,205 (GRCm39)	R42H	probably damaging	Het
Ttn	A	G	2: 76,602,911 (GRCm39)	I16691T	possibly damaging	Het
Tyr	A	G	7: 87,078,276 (GRCm39)	L528P	possibly damaging	Het
Ubxn2b	T	C	4: 6,204,565 (GRCm39)	V142A	probably damaging	Het
Uggt2	C	T	14: 119,286,674 (GRCm39)	D221N	probably damaging	Het
Wnt4	A	G	4: 137,023,654 (GRCm39)	K207R	possibly damaging	Het
Zfp608	T	C	18: 55,121,267 (GRCm39)	R107G	probably damaging	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
R0218:Irf2bpl	UTSW	12	86,929,398 (GRCm39)	missense	probably benign	0.02
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
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'- CTTCTTGAAGCGCACCTCGTAG -3'
(R):5'- ACGCATAGTGGGTTGGTGAC -3'

Sequencing Primer
(F):5'- TGTCGCGGACCATCTTGG -3'
(R):5'- GACCTCAGCTAACCGTGC -3'

Posted On

2015-06-10