Mutagenetix > Incidental Mutation

Incidental Mutation 'R5748:Ebpl'

445893

Institutional Source

Beutler Lab

Gene Symbol

Ebpl

Ensembl Gene

ENSMUSG00000021928

Gene Name

emopamil binding protein-like

Synonyms

5730442K12Rik

MMRRC Submission

043355-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.114) question?

Stock #

R5748 (G1)

Quality Score

152

Status

Validated

Chromosome

Chromosomal Location

61577212-61597894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 61597793 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 16 (L16Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022494 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022494] [ENSMUST00000022496]

AlphaFold

Q9D0P0

Predicted Effect

probably null
Transcript: ENSMUST00000022494
AA Change: L16Q

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000022494
Gene: ENSMUSG00000021928
AA Change: L16Q

Domain	Start	End	E-Value	Type
Pfam:EBP	12	197	1.2e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000022496

SMART Domains

Protein: ENSMUSP00000022496
Gene: ENSMUSG00000021929

Domain	Start	End	E-Value	Type
Pfam:IBB	7	93	1e-25	PFAM
ARM	103	144	9.52e-11	SMART
ARM	146	186	2.15e-9	SMART
ARM	188	229	8.59e0	SMART
ARM	232	271	1.78e-1	SMART
ARM	273	313	4.31e-9	SMART
ARM	315	355	5.91e-7	SMART
ARM	357	397	5.22e-8	SMART
ARM	400	440	1.51e-4	SMART
Pfam:Arm_3	447	499	5.4e-25	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000223560

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000225112

Meta Mutation Damage Score

0.4533

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.5%
20x: 96.0%

Validation Efficiency

98% (58/59)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	A	G	7: 78,739,447 (GRCm39)	Q285R	probably damaging	Het
Acy1	T	A	9: 106,313,926 (GRCm39)	N78I	probably damaging	Het
Anln	T	C	9: 22,249,230 (GRCm39)	K166E	probably damaging	Het
C1qtnf4	A	G	2: 90,719,877 (GRCm39)	D50G	probably damaging	Het
Cntnap2	A	G	6: 45,692,818 (GRCm39)	T100A	probably damaging	Het
Cxcr6	C	T	9: 123,639,406 (GRCm39)	R143C	probably damaging	Het
Dhx16	T	C	17: 36,194,206 (GRCm39)	L439P	probably damaging	Het
Dlk1	T	C	12: 109,425,898 (GRCm39)	V257A	probably benign	Het
Eml5	T	A	12: 98,791,814 (GRCm39)	Y1234F	probably damaging	Het
Gm10549	C	A	18: 33,597,358 (GRCm39)		probably benign	Het
Gria1	A	G	11: 57,200,702 (GRCm39)	D793G	probably benign	Het
Gtse1	T	C	15: 85,751,778 (GRCm39)	Y324H	probably benign	Het
Hcn1	A	T	13: 118,112,591 (GRCm39)	S852C	probably damaging	Het
Invs	A	G	4: 48,307,823 (GRCm39)	T83A	probably damaging	Het
Iqgap3	T	C	3: 88,016,677 (GRCm39)	L155P	probably damaging	Het
Lgr6	C	T	1: 134,921,748 (GRCm39)	A199T	probably damaging	Het
Lrrc14b	T	A	13: 74,511,759 (GRCm39)	D107V	probably damaging	Het
Mcm9	A	T	10: 53,501,825 (GRCm39)	H253Q	probably damaging	Het
Mcmdc2	A	G	1: 9,982,032 (GRCm39)	Y30C	probably damaging	Het
Mdga1	C	T	17: 30,069,525 (GRCm39)	D174N	probably benign	Het
Med13l	G	A	5: 118,731,510 (GRCm39)	R62H	probably damaging	Het
Mrgpra2b	A	G	7: 47,152,280 (GRCm39)		probably benign	Het
Nacad	T	A	11: 6,548,370 (GRCm39)	K1426*	probably null	Het
Ndufb6	A	G	4: 40,279,234 (GRCm39)	L35S	probably damaging	Het
Niban2	A	T	2: 32,809,581 (GRCm39)	K260M	probably damaging	Het
Nkapl	A	G	13: 21,651,779 (GRCm39)	I278T	probably benign	Het
Nrbp2	T	C	15: 75,961,332 (GRCm39)	E263G	probably damaging	Het
Nup85	T	A	11: 115,471,338 (GRCm39)	L110Q	probably damaging	Het
Or14c40	A	G	7: 86,313,293 (GRCm39)	N141S	possibly damaging	Het
Or1e35	A	G	11: 73,797,721 (GRCm39)	I199T	probably damaging	Het
Or2t6	T	C	14: 14,175,314 (GRCm38)	Y256C	probably damaging	Het
Or4a78	A	T	2: 89,498,146 (GRCm39)	M28K	possibly damaging	Het
Or5b12	T	A	19: 12,897,379 (GRCm39)	Q98L	probably damaging	Het
Or6b2b	T	A	1: 92,418,815 (GRCm39)	I221F	probably damaging	Het
Polr2m	C	T	9: 71,390,918 (GRCm39)	D95N	probably benign	Het
Popdc2	A	T	16: 38,194,665 (GRCm39)	D362V	probably damaging	Het
Pot1a	A	T	6: 25,758,855 (GRCm39)	I308N	possibly damaging	Het
Rsf1	GCGGCGGC	GCGGCGGCGTCGGCGGC	7: 97,229,135 (GRCm39)		probably benign	Het
Rufy4	T	C	1: 74,186,822 (GRCm39)	C537R	probably damaging	Het
Rundc3a	G	A	11: 102,290,225 (GRCm39)	E189K	possibly damaging	Het
Scaf1	A	C	7: 44,662,230 (GRCm39)		probably null	Het
Scaper	T	C	9: 55,766,360 (GRCm39)		probably null	Het
Sh3glb1	C	T	3: 144,418,410 (GRCm39)	C51Y	probably damaging	Het
Slc10a5	T	C	3: 10,400,391 (GRCm39)	T90A	probably benign	Het
Slc17a3	T	A	13: 24,040,449 (GRCm39)	S336T	probably damaging	Het
Slc41a2	C	A	10: 83,133,023 (GRCm39)	C341F	probably benign	Het
Spata31	A	G	13: 65,068,127 (GRCm39)	*67W	probably null	Het
Stap2	C	T	17: 56,307,475 (GRCm39)		probably null	Het
Stt3a	A	T	9: 36,663,696 (GRCm39)	M182K	probably benign	Het
Tcfl5	G	A	2: 180,284,050 (GRCm39)		silent	Het
Tmx3	T	C	18: 90,555,225 (GRCm39)	V314A	probably benign	Het
Upf1	A	G	8: 70,791,167 (GRCm39)	L525P	probably damaging	Het
Wdr6	T	C	9: 108,452,981 (GRCm39)	I301V	possibly damaging	Het
Ylpm1	T	A	12: 85,107,025 (GRCm39)		probably null	Het
Zfp273	T	C	13: 67,973,450 (GRCm39)	Y160H	probably damaging	Het

Other mutations in Ebpl

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL03222:Ebpl	APN	14	61,579,682 (GRCm39)	splice site	probably benign
R1740:Ebpl	UTSW	14	61,578,656 (GRCm39)	missense	probably benign	0.01
R4735:Ebpl	UTSW	14	61,579,567 (GRCm39)	missense	probably damaging	0.99
R4744:Ebpl	UTSW	14	61,597,682 (GRCm39)	missense	probably damaging	1.00
R6578:Ebpl	UTSW	14	61,597,769 (GRCm39)	missense	probably benign
R6819:Ebpl	UTSW	14	61,578,695 (GRCm39)	missense	probably damaging	1.00
R6863:Ebpl	UTSW	14	61,597,751 (GRCm39)	missense	probably damaging	0.99
R6903:Ebpl	UTSW	14	61,597,693 (GRCm39)	nonsense	probably null

Predicted Primers

PCR Primer
(F):5'- TCCATCTAGGCCAAAAGCTGC -3'
(R):5'- CATCAGGACAGAATGGGCTG -3'

Sequencing Primer
(F):5'- CAGAGACATCAGGGCTGC -3'
(R):5'- AGAATGGGCTGCACCGATC -3'

Posted On

2016-11-21