Mutagenetix > Incidental Mutation

Incidental Mutation 'R7014:Ebna1bp2'

545167

Institutional Source

Beutler Lab

Gene Symbol

Ebna1bp2

Ensembl Gene

ENSMUSG00000028729

Gene Name

EBNA1 binding protein 2

Synonyms

p40, Nobp, B830003A16Rik, Ebp2, 1810014B19Rik

MMRRC Submission

045115-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.966) question?

Stock #

R7014 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118477996-118484973 bp(+) (GRCm39)

Type of Mutation

nonsense

DNA Base Change (assembly)

T to A at 118480575 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Stop codon at position 139 (Y139*)

Ref Sequence

ENSEMBL: ENSMUSP00000114372 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000030501] [ENSMUST00000071972] [ENSMUST00000081921] [ENSMUST00000147373]

AlphaFold

Q9D903

Predicted Effect

probably null
Transcript: ENSMUST00000030501
AA Change: Y176*

SMART Domains

Protein: ENSMUSP00000030501
Gene: ENSMUSG00000028729
AA Change: Y176*

Domain	Start	End	E-Value	Type
Pfam:Ebp2	18	298	2.1e-89	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000071972

SMART Domains

Protein: ENSMUSP00000071863
Gene: ENSMUSG00000028730

Domain	Start	End	E-Value	Type
Blast:WD40	44	88	3e-12	BLAST
Blast:WD40	95	137	1e-9	BLAST
WD40	140	181	1.77e2	SMART
internal_repeat_1	182	237	7.23e-5	PROSPERO
WD40	329	365	1.27e2	SMART
WD40	376	416	3.4e-2	SMART
WD40	418	456	1.59e1	SMART
Blast:WD40	461	497	4e-18	BLAST
WD40	500	539	9.67e-7	SMART
WD40	544	581	3.96e1	SMART
Blast:WD40	582	621	8e-16	BLAST
WD40	626	665	3.21e-1	SMART
coiled coil region	690	1056	N/A	INTRINSIC
coiled coil region	1094	1166	N/A	INTRINSIC
coiled coil region	1197	1222	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000081921

SMART Domains

Protein: ENSMUSP00000080592
Gene: ENSMUSG00000028730

Domain	Start	End	E-Value	Type
Blast:WD40	44	88	3e-12	BLAST
Blast:WD40	95	137	1e-9	BLAST
WD40	140	181	1.77e2	SMART
internal_repeat_1	182	237	7.23e-5	PROSPERO
WD40	329	365	1.27e2	SMART
WD40	376	416	3.4e-2	SMART
WD40	418	456	1.59e1	SMART
Blast:WD40	461	497	4e-18	BLAST
WD40	500	539	9.67e-7	SMART
WD40	544	581	3.96e1	SMART
Blast:WD40	582	621	8e-16	BLAST
WD40	626	665	3.21e-1	SMART
coiled coil region	690	1056	N/A	INTRINSIC
coiled coil region	1094	1166	N/A	INTRINSIC
coiled coil region	1197	1222	N/A	INTRINSIC

Predicted Effect

probably null
Transcript: ENSMUST00000147373
AA Change: Y139*

SMART Domains

Protein: ENSMUSP00000114372
Gene: ENSMUSG00000028729
AA Change: Y139*

Domain	Start	End	E-Value	Type
Pfam:Ebp2	13	187	4.8e-65	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

99% (80/81)

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310022A10Rik	C	T	7: 27,278,198 (GRCm39)	Q156*	probably null	Het
2700097O09Rik	A	G	12: 55,092,727 (GRCm39)	I264T	probably benign	Het
Arid3a	G	T	10: 79,786,718 (GRCm39)	M488I	possibly damaging	Het
Auts2	A	G	5: 131,494,961 (GRCm39)	F331S	probably damaging	Het
Axdnd1	T	C	1: 156,158,532 (GRCm39)		probably null	Het
Bpifb5	C	A	2: 154,066,876 (GRCm39)	S43*	probably null	Het
Carhsp1	A	G	16: 8,478,869 (GRCm39)	V128A	probably benign	Het
Ccdc141	A	G	2: 76,962,641 (GRCm39)	V101A	probably damaging	Het
Cdk6	C	G	5: 3,523,152 (GRCm39)	L191V	probably damaging	Het
Cgnl1	T	G	9: 71,632,416 (GRCm39)	K312Q	possibly damaging	Het
Col6a1	T	C	10: 76,557,277 (GRCm39)	E225G	probably damaging	Het
Copg1	T	A	6: 87,879,322 (GRCm39)	L456Q	probably damaging	Het
Ctif	T	A	18: 75,570,279 (GRCm39)	D540V	possibly damaging	Het
Cyfip1	T	C	7: 55,569,241 (GRCm39)	I917T	probably benign	Het
Cyth1	T	C	11: 118,103,477 (GRCm39)	D9G	probably benign	Het
Dnajb1	T	C	8: 84,336,884 (GRCm39)	I118T	probably damaging	Het
Efcab3	A	G	11: 104,584,248 (GRCm39)	T100A	probably benign	Het
Fam162a	A	T	16: 35,870,302 (GRCm39)	V59E	probably damaging	Het
Fhad1	CGG	CG	4: 141,645,602 (GRCm39)		probably null	Het
Fmo6	C	G	1: 162,753,877 (GRCm39)	R112T	probably benign	Het
Gm17087	T	A	17: 8,785,304 (GRCm39)	D133V	probably benign	Het
Gm42669	A	G	5: 107,656,142 (GRCm39)	I802V	probably benign	Het
Gp2	T	C	7: 119,050,868 (GRCm39)	N288D	probably damaging	Het
Gstm7	C	T	3: 107,834,278 (GRCm39)	D196N	probably benign	Het
Hsph1	A	T	5: 149,553,865 (GRCm39)	V201D	probably damaging	Het
Il20ra	T	C	10: 19,588,458 (GRCm39)	L26P	unknown	Het
Itpr1	T	A	6: 108,408,459 (GRCm39)		probably null	Het
Kcns3	A	T	12: 11,141,688 (GRCm39)	I337N	probably damaging	Het
Kdm4d	A	G	9: 14,375,475 (GRCm39)	Y128H	probably damaging	Het
Kirrel2	A	G	7: 30,153,999 (GRCm39)	I200T	probably benign	Het
Klhdc10	T	A	6: 30,450,502 (GRCm39)	I294N	probably damaging	Het
Map1a	A	C	2: 121,130,720 (GRCm39)	N512T	probably damaging	Het
Marchf8	C	G	6: 116,380,504 (GRCm39)	C118W	probably damaging	Het
Marchf8	T	G	6: 116,380,505 (GRCm39)	C119G	probably damaging	Het
Mrpl38	G	T	11: 116,025,741 (GRCm39)	P195Q	probably damaging	Het
Ms4a4d	A	T	19: 11,525,947 (GRCm39)	Q27L	probably benign	Het
Muc16	T	A	9: 18,569,532 (GRCm39)	T996S	unknown	Het
Mug1	C	T	6: 121,838,084 (GRCm39)	A438V	probably benign	Het
Mup7	T	A	4: 60,069,866 (GRCm39)	I33F	probably damaging	Het
Ndufa5	C	T	6: 24,519,190 (GRCm39)		probably null	Het
Or2b7	A	G	13: 21,740,108 (GRCm39)	F28S	probably benign	Het
Or2l5	A	T	16: 19,334,206 (GRCm39)	F60Y	probably benign	Het
Or5w17	T	C	2: 87,584,215 (GRCm39)	I41V	probably benign	Het
Or5w1b	A	T	2: 87,476,320 (GRCm39)	L49Q	probably damaging	Het
Or7e177	T	A	9: 20,211,959 (GRCm39)	C154*	probably null	Het
Parp9	T	A	16: 35,780,433 (GRCm39)		probably null	Het
Pate8	C	A	9: 36,493,854 (GRCm39)	W26C	unknown	Het
Pbx1	T	A	1: 168,258,949 (GRCm39)	D42V	probably damaging	Het
Pde4dip	G	T	3: 97,622,738 (GRCm39)	N1490K	possibly damaging	Het
Pdzd2	T	C	15: 12,372,647 (GRCm39)	N2496S	probably benign	Het
Pdzd2	A	G	15: 12,373,061 (GRCm39)	M2358T	probably benign	Het
Pglyrp2	C	A	17: 32,634,904 (GRCm39)	C486F	probably damaging	Het
Pi4ka	A	G	16: 17,114,931 (GRCm39)		probably benign	Het
Pknox2	T	A	9: 36,820,963 (GRCm39)	T300S	probably damaging	Het
Plekhm3	A	G	1: 64,922,429 (GRCm39)	I582T	probably damaging	Het
Prtg	T	C	9: 72,799,267 (GRCm39)	Y766H	possibly damaging	Het
Prxl2a	T	C	14: 40,724,451 (GRCm39)	E71G	probably benign	Het
Rabgap1	A	G	2: 37,450,575 (GRCm39)	E901G	probably benign	Het
Rabgap1l	A	T	1: 160,169,642 (GRCm39)	N60K	probably damaging	Het
Rnf150	C	T	8: 83,769,292 (GRCm39)	T359I	probably benign	Het
Rps6ka2	C	T	17: 7,523,331 (GRCm39)	H236Y	probably benign	Het
Rrp1b	T	A	17: 32,268,401 (GRCm39)	L120Q	probably damaging	Het
Scn7a	C	A	2: 66,572,303 (GRCm39)	G223C	probably null	Het
Sema6a	T	A	18: 47,431,284 (GRCm39)	N138I	probably damaging	Het
Septin5	T	A	16: 18,443,659 (GRCm39)	I97F	probably damaging	Het
Shcbp1	T	A	8: 4,804,234 (GRCm39)	E225D	probably damaging	Het
Slc25a19	A	G	11: 115,511,792 (GRCm39)	C124R	probably damaging	Het
Slc37a2	C	T	9: 37,145,183 (GRCm39)	A428T	probably damaging	Het
Slc5a12	A	G	2: 110,474,709 (GRCm39)	I538V	probably benign	Het
Slco4c1	A	T	1: 96,751,506 (GRCm39)		probably null	Het
Smarcad1	T	C	6: 65,029,654 (GRCm39)	S81P	probably damaging	Het
Smyd1	T	C	6: 71,215,611 (GRCm39)	D116G	probably damaging	Het
Themis	T	C	10: 28,665,703 (GRCm39)	Y589H	probably benign	Het
Trim30d	T	C	7: 104,132,543 (GRCm39)	K248R	probably benign	Het
Tspan12	C	T	6: 21,772,918 (GRCm39)	M210I	probably benign	Het
Vmn2r11	T	C	5: 109,201,289 (GRCm39)	Y405C	probably damaging	Het
Wdfy3	A	G	5: 102,042,775 (GRCm39)		probably null	Het
Wiz	C	A	17: 32,580,840 (GRCm39)	A83S	probably damaging	Het
Zfp1002	A	T	2: 150,097,182 (GRCm39)	C82*	probably null	Het
Zmym6	T	A	4: 127,017,337 (GRCm39)	Y947*	probably null	Het

Other mutations in Ebna1bp2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00427:Ebna1bp2	APN	4	118,483,018 (GRCm39)	missense	probably damaging	1.00
IGL02390:Ebna1bp2	APN	4	118,478,694 (GRCm39)	missense	possibly damaging	0.46
arch	UTSW	4	118,478,620 (GRCm39)	missense	probably damaging	1.00
R1451:Ebna1bp2	UTSW	4	118,478,269 (GRCm39)	splice site	probably null
R1713:Ebna1bp2	UTSW	4	118,482,881 (GRCm39)	missense	possibly damaging	0.46
R2987:Ebna1bp2	UTSW	4	118,478,133 (GRCm39)	missense	probably damaging	1.00
R5865:Ebna1bp2	UTSW	4	118,478,332 (GRCm39)	unclassified	probably benign
R5889:Ebna1bp2	UTSW	4	118,478,620 (GRCm39)	missense	probably damaging	1.00
R6761:Ebna1bp2	UTSW	4	118,480,558 (GRCm39)	nonsense	probably null
R6806:Ebna1bp2	UTSW	4	118,478,174 (GRCm39)	missense	probably benign	0.01
R7075:Ebna1bp2	UTSW	4	118,479,299 (GRCm39)	missense	probably benign	0.00
R7123:Ebna1bp2	UTSW	4	118,482,772 (GRCm39)	missense	probably damaging	1.00
R9567:Ebna1bp2	UTSW	4	118,478,190 (GRCm39)	missense	probably benign
R9626:Ebna1bp2	UTSW	4	118,478,371 (GRCm39)	start gained	probably benign
R9766:Ebna1bp2	UTSW	4	118,480,821 (GRCm39)	missense	possibly damaging	0.85
Z1176:Ebna1bp2	UTSW	4	118,478,343 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- AGCCCATGGACACTTTTGG -3'
(R):5'- CTGCTACCACACTATGCTGG -3'

Sequencing Primer
(F):5'- CACTTTTGGTGCCAGGCTCAG -3'
(R):5'- TGCTACCACACTATGCTGGATACAC -3'

Posted On

2019-05-13