Mutagenetix > Incidental Mutation

Incidental Mutation 'R6874:Irf2bp1'

536308

Institutional Source

Beutler Lab

Gene Symbol

Irf2bp1

Ensembl Gene

ENSMUSG00000044030

Gene Name

interferon regulatory factor 2 binding protein 1

Synonyms

6330414O09Rik

MMRRC Submission

045029-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R6874 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

18737983-18740688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 18739142 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 261 (A261S)

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: A261S

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

SMART Domains

Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: A261S

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

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca14	A	G	7: 119,851,428 (GRCm39)	D802G	possibly damaging	Het
Acsl5	A	G	19: 55,280,295 (GRCm39)	T523A	probably damaging	Het
Adamts7	A	T	9: 90,070,784 (GRCm39)	D635V	probably damaging	Het
Akr1c12	C	A	13: 4,322,959 (GRCm39)	G217C	probably benign	Het
Astn1	C	A	1: 158,491,644 (GRCm39)	S1007*	probably null	Het
Cntln	T	C	4: 84,985,996 (GRCm39)	L988P	probably damaging	Het
Dcps	A	T	9: 35,087,263 (GRCm39)	M1K	probably null	Het
Dnai1	T	A	4: 41,632,412 (GRCm39)	L582Q	probably damaging	Het
Dst	A	T	1: 34,328,732 (GRCm39)	Q7118L	probably benign	Het
Ehd2	T	A	7: 15,684,363 (GRCm39)	T479S	probably benign	Het
Fbxl7	T	C	15: 26,553,028 (GRCm39)	I80V	probably benign	Het
Fry	T	C	5: 150,360,768 (GRCm39)	V125A	probably benign	Het
Gm12695	A	T	4: 96,673,306 (GRCm39)	I31K	probably benign	Het
Gm5591	T	C	7: 38,219,715 (GRCm39)	E386G	probably damaging	Het
Helz	G	T	11: 107,554,460 (GRCm39)	R1219S	probably damaging	Het
Hes3	G	T	4: 152,371,695 (GRCm39)	P85T	possibly damaging	Het
Igkv3-2	A	T	6: 70,675,822 (GRCm39)	R44*	probably null	Het
Igsf9	A	G	1: 172,322,096 (GRCm39)	T496A	probably benign	Het
Jph2	G	A	2: 163,181,407 (GRCm39)	P586S	probably benign	Het
Klhl11	T	C	11: 100,363,031 (GRCm39)	H175R	probably benign	Het
Ksr2	G	T	5: 117,894,401 (GRCm39)	E847*	probably null	Het
Lats1	T	A	10: 7,586,615 (GRCm39)	Y926N	probably damaging	Het
Lmbr1	A	T	5: 29,497,904 (GRCm39)	L33H	probably damaging	Het
Lrp10	T	C	14: 54,705,670 (GRCm39)	S287P	possibly damaging	Het
Map3k6	G	A	4: 132,977,967 (GRCm39)	E976K	probably benign	Het
Mfsd6	T	A	1: 52,699,868 (GRCm39)	D760V	probably benign	Het
Muc16	G	T	9: 18,570,065 (GRCm39)	S818*	probably null	Het
Muc5ac	C	T	7: 141,363,481 (GRCm39)		probably benign	Het
Nagpa	T	C	16: 5,013,921 (GRCm39)	T306A	probably benign	Het
Nisch	G	T	14: 30,898,641 (GRCm39)		probably benign	Het
Nrxn3	T	C	12: 90,298,964 (GRCm39)	V1028A	probably damaging	Het
Nucb1	T	C	7: 45,152,618 (GRCm39)	N75S	probably benign	Het
Or11a4	T	C	17: 37,536,238 (GRCm39)	V74A	probably benign	Het
Or1e1d-ps1	T	G	11: 73,819,068 (GRCm39)	M6R	probably null	Het
Or51a43	T	A	7: 103,717,396 (GRCm39)	I281F	possibly damaging	Het
Or5h23	T	A	16: 58,906,312 (GRCm39)	Y178F	probably benign	Het
Or7g19	T	A	9: 18,856,777 (GRCm39)	Y278N	possibly damaging	Het
Or8b57	A	G	9: 40,004,022 (GRCm39)	V80A	probably benign	Het
Or8k24	C	T	2: 86,215,872 (GRCm39)	V297I	possibly damaging	Het
Pik3c2a	A	G	7: 115,993,540 (GRCm39)	L409S	probably damaging	Het
Pkhd1l1	T	A	15: 44,452,923 (GRCm39)	D3949E	probably benign	Het
Prune2	C	A	19: 17,100,592 (GRCm39)	P2032Q	probably damaging	Het
Ptms	T	C	6: 124,891,194 (GRCm39)		probably benign	Het
Ptp4a3	A	G	15: 73,595,259 (GRCm39)		probably benign	Het
Ptprq	T	C	10: 107,554,460 (GRCm39)	I88M	possibly damaging	Het
Radil	T	A	5: 142,492,557 (GRCm39)	D357V	probably damaging	Het
Runx2	G	A	17: 45,125,079 (GRCm39)	P80L	probably damaging	Het
Supt20	A	G	3: 54,635,175 (GRCm39)		probably null	Het
Thoc5	T	C	11: 4,851,261 (GRCm39)	I69T	probably damaging	Het
Trib2	G	C	12: 15,865,338 (GRCm39)	S79W	probably damaging	Het
Trpc6	A	G	9: 8,680,439 (GRCm39)	D889G	probably damaging	Het
Usf3	T	C	16: 44,040,103 (GRCm39)	S1528P	probably benign	Het
Vax1	A	T	19: 59,156,955 (GRCm39)	V126E	unknown	Het
Vgf	A	G	5: 137,060,386 (GRCm39)		probably benign	Het
Vmn2r1	T	A	3: 64,012,376 (GRCm39)	C746S	probably damaging	Het
Vmn2r77	A	G	7: 86,451,286 (GRCm39)	T391A	probably benign	Het
Zfp738	C	A	13: 67,818,382 (GRCm39)	E536D	possibly 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
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
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

Predicted Primers

PCR Primer
(F):5'- AGAGGAATGCGGACTGCTTG -3'
(R):5'- GTAAGCAGCTCTCCTAACTGGC -3'

Sequencing Primer
(F):5'- TGCTTGGCAGAACTGAACG -3'
(R):5'- CGCCGTTCATACTCGAGGTAC -3'

Posted On

2018-10-18