Mutagenetix > Incidental Mutation

Incidental Mutation 'R6806:Ebna1bp2'

537472

Institutional Source

Beutler Lab

Gene Symbol

Ebna1bp2

Ensembl Gene

ENSMUSG00000028729

Gene Name

EBNA1 binding protein 2

Synonyms

p40, Nobp, B830003A16Rik, Ebp2, 1810014B19Rik

MMRRC Submission

044919-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.965) question?

Stock #

R6806 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

118477996-118484973 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 118478174 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 16 (C16R)

Ref Sequence

ENSEMBL: ENSMUSP00000030501 (fasta)

Gene Model

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

AlphaFold

Q9D903

Predicted Effect

probably benign
Transcript: ENSMUST00000030501
AA Change: C16R

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000030501
Gene: ENSMUSG00000028729
AA Change: C16R

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 benign
Transcript: ENSMUST00000147373

SMART Domains

Protein: ENSMUSP00000114372
Gene: ENSMUSG00000028729

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

Meta Mutation Damage Score

0.0846

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.5%
20x: 98.4%

Validation Efficiency

95% (39/41)

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Agbl1	A	G	7: 76,075,669 (GRCm39)	Y437C	probably damaging	Het
Apba2	T	A	7: 64,345,207 (GRCm39)	D132E	probably damaging	Het
Atp13a4	A	G	16: 29,288,098 (GRCm39)	S258P	probably damaging	Het
Bach2	T	A	4: 32,575,301 (GRCm39)	M509K	possibly damaging	Het
Ccdc186	T	A	19: 56,788,561 (GRCm39)	K549N	probably damaging	Het
Chrna3	C	T	9: 54,923,094 (GRCm39)	R238H	probably damaging	Het
Cntnap5b	G	A	1: 99,868,374 (GRCm39)	C30Y	probably damaging	Het
Cplane1	A	G	15: 8,216,342 (GRCm39)	Q520R	possibly damaging	Het
Dnah11	T	C	12: 117,951,411 (GRCm39)		probably null	Het
Grin2b	A	G	6: 135,751,826 (GRCm39)	Y579H	possibly damaging	Het
Ifi206	C	T	1: 173,309,137 (GRCm39)	M286I	probably benign	Het
Itpr1	G	A	6: 108,492,908 (GRCm39)	V2478I	probably benign	Het
Lrrc37	T	C	11: 103,511,950 (GRCm39)	E6G	unknown	Het
Ltbp2	T	C	12: 84,856,012 (GRCm39)	S744G	possibly damaging	Het
Magi3	T	A	3: 103,954,285 (GRCm39)	N684I	possibly damaging	Het
Muc16	A	G	9: 18,449,206 (GRCm39)		probably null	Het
Nphp4	G	T	4: 152,622,558 (GRCm39)	Q614H	probably benign	Het
Nprl3	A	G	11: 32,217,509 (GRCm39)	I11T	probably damaging	Het
Or51q1	G	T	7: 103,628,771 (GRCm39)	R124L	possibly damaging	Het
Pank2	T	C	2: 131,104,627 (GRCm39)		probably benign	Het
Prss58	A	T	6: 40,874,666 (GRCm39)	N58K	probably damaging	Het
Ptk7	C	T	17: 46,884,454 (GRCm39)	V759M	probably damaging	Het
Rassf7	A	G	7: 140,796,722 (GRCm39)	T28A	probably damaging	Het
Rbm45	C	T	2: 76,210,804 (GRCm39)	T445I	probably benign	Het
Rsf1	ATGGCG	ATGGCGACGGTGGCG	7: 97,229,111 (GRCm39)		probably benign	Het
Rsrc2	T	G	5: 123,877,594 (GRCm39)		probably benign	Het
Saxo2	A	T	7: 82,284,240 (GRCm39)	I206N	probably benign	Het
Sh3d19	T	A	3: 86,011,640 (GRCm39)	Y409N	probably damaging	Het
Spata31d1a	A	T	13: 59,851,032 (GRCm39)	N365K	probably benign	Het
Stkld1	C	G	2: 26,833,922 (GRCm39)	N136K	probably benign	Het
Tenm4	A	G	7: 96,461,166 (GRCm39)	D904G	possibly damaging	Het
Tmf1	G	A	6: 97,138,408 (GRCm39)	R837*	probably null	Het
Tnn	T	C	1: 159,948,278 (GRCm39)	T812A	possibly damaging	Het
Trgj4	T	C	13: 19,526,365 (GRCm39)	L15P	probably damaging	Het
Trp53bp1	T	C	2: 121,059,147 (GRCm39)	I905V	probably damaging	Het
Ubr3	T	C	2: 69,786,308 (GRCm39)		probably benign	Het
Zfp446	T	C	7: 12,713,043 (GRCm39)	L27P	probably damaging	Het
Zfp719	A	G	7: 43,235,809 (GRCm39)	D57G	possibly damaging	Het
Zfp747l1	T	C	7: 126,985,766 (GRCm39)		probably benign	Het
Zfp978	G	A	4: 147,475,284 (GRCm39)	R277K	probably benign	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
R7014:Ebna1bp2	UTSW	4	118,480,575 (GRCm39)	nonsense	probably null
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'- GTTCCTATAGCAACGAGAAAACCG -3'
(R):5'- ACGAGCTCACCACGTCATTC -3'

Sequencing Primer
(F):5'- GGAAGTGCGGCTATGAACCC -3'
(R):5'- GCTCACCACGTCATTCACTGC -3'

Posted On

2018-10-18