Mutagenetix > Incidental Mutation

Incidental Mutation 'R3972:Irf2bp1'

311020

Institutional Source

Beutler Lab

Gene Symbol

Irf2bp1

Ensembl Gene

ENSMUSG00000044030

Gene Name

interferon regulatory factor 2 binding protein 1

Synonyms

6330414O09Rik

MMRRC Submission

040840-MU

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.658) question?

Stock #

R3972 (G1)

Quality Score

188

Status

Not validated

Chromosome

Chromosomal Location

18737983-18740688 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 18739369 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 336 (D336E)

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: D336E

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

SMART Domains

Protein: ENSMUSP00000061234
Gene: ENSMUSG00000044030
AA Change: D336E

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

1x: 99.2%
3x: 98.5%
10x: 97.0%
20x: 94.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alk	T	G	17: 72,292,442 (GRCm39)	D512A	probably benign	Het
Avl9	T	C	6: 56,720,393 (GRCm39)	F477S	probably damaging	Het
C7	C	T	15: 5,037,133 (GRCm39)	V582I	possibly damaging	Het
Cldn20	A	G	17: 3,582,914 (GRCm39)	N29S	probably benign	Het
Coro2b	C	T	9: 62,336,522 (GRCm39)	A251T	possibly damaging	Het
Dnah3	T	A	7: 119,685,943 (GRCm39)	D131V	probably damaging	Het
Dusp12	T	C	1: 170,707,344 (GRCm39)	K248R	probably damaging	Het
Fat3	G	A	9: 15,909,567 (GRCm39)	S2145F	probably damaging	Het
Fgf1	T	C	18: 38,980,147 (GRCm39)	T76A	probably benign	Het
Gucy2c	C	T	6: 136,685,364 (GRCm39)	R859K	probably damaging	Het
Lpar6	A	G	14: 73,476,513 (GRCm39)	H158R	probably benign	Het
Ltbp3	G	A	19: 5,804,050 (GRCm39)	R854Q	probably benign	Het
Lyst	T	C	13: 13,881,210 (GRCm39)	C2814R	possibly damaging	Het
Man2b1	A	G	8: 85,812,020 (GRCm39)	N158S	probably damaging	Het
Mki67	A	C	7: 135,297,859 (GRCm39)	S2392A	probably benign	Het
Mrpl16	A	G	19: 11,750,239 (GRCm39)	N41S	probably benign	Het
Myo5b	C	T	18: 74,873,598 (GRCm39)	L1501F	probably damaging	Het
Nudt9	G	T	5: 104,194,991 (GRCm39)	C29F	probably benign	Het
Or4d11	G	T	19: 12,013,383 (GRCm39)	T241N	probably damaging	Het
Otop1	A	G	5: 38,457,533 (GRCm39)	I431V	probably benign	Het
Otp	T	G	13: 95,019,692 (GRCm39)	L181R	probably damaging	Het
Pde4a	A	G	9: 21,117,513 (GRCm39)	T592A	probably damaging	Het
Pi4ka	A	G	16: 17,111,739 (GRCm39)	Y1579H	probably damaging	Het
Rb1cc1	T	C	1: 6,319,224 (GRCm39)	V864A	probably benign	Het
Reln	A	T	5: 22,183,999 (GRCm39)	F1667I	probably damaging	Het
Serpinb10	T	A	1: 107,463,852 (GRCm39)	F45I	probably damaging	Het
Setdb1	A	T	3: 95,248,649 (GRCm39)	N422K	probably damaging	Het
Slc17a7	A	G	7: 44,819,334 (GRCm39)	I137V	possibly damaging	Het
Tet1	T	A	10: 62,649,505 (GRCm39)	E67D	probably damaging	Het
Tpcn1	C	A	5: 120,691,817 (GRCm39)		probably null	Het
Trav9-4	T	C	14: 53,913,877 (GRCm39)	Y44H	possibly damaging	Het
Trmt1l	A	G	1: 151,309,634 (GRCm39)	N106D	possibly damaging	Het
Ttll12	A	T	15: 83,466,297 (GRCm39)	L388Q	probably damaging	Het
Ttn	A	T	2: 76,641,587 (GRCm39)	L5176Q	possibly damaging	Het
Ubfd1	T	G	7: 121,666,656 (GRCm39)	S51A	probably benign	Het
Uckl1	T	C	2: 181,216,256 (GRCm39)	D148G	probably damaging	Het
Usp34	T	C	11: 23,407,803 (GRCm39)	L2571S	probably damaging	Het
Wdr75	T	C	1: 45,861,714 (GRCm39)	V718A	probably benign	Het
Zfp266	A	G	9: 20,411,446 (GRCm39)	S244P	probably damaging	Het
Zfp979	G	A	4: 147,702,876 (GRCm39)	Q25*	probably null	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
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

Predicted Primers

PCR Primer
(F):5'- GGTTCTGGCAATGTTTACGC -3'
(R):5'- TGAAGAGTATGGACCGCCTG -3'

Sequencing Primer
(F):5'- CAATGTTTACGCGGGGGTCC -3'
(R):5'- GTGGTCATCTTCCCAGCTG -3'

Posted On

2015-04-29