Mutagenetix > Incidental Mutation

Incidental Mutation 'R6819:Ebpl'

537535

Institutional Source

Beutler Lab

Gene Symbol

Ebpl

Ensembl Gene

ENSMUSG00000021928

Gene Name

emopamil binding protein-like

Synonyms

5730442K12Rik

MMRRC Submission

044931-MU

Accession Numbers

Essential gene?

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

Stock #

R6819 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

61577212-61597894 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 61578695 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Proline to Glutamine at position 180 (P180Q)

Ref Sequence

ENSEMBL: ENSMUSP00000022494 (fasta)

Gene Model

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

AlphaFold

Q9D0P0

Predicted Effect

probably damaging
Transcript: ENSMUST00000022494
AA Change: P180Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022494
Gene: ENSMUSG00000021928
AA Change: P180Q

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca17	C	A	17: 24,506,767 (GRCm39)	V1196L	probably benign	Het
Adal	T	A	2: 120,978,794 (GRCm39)	I138N	probably damaging	Het
Arfgap1	T	C	2: 180,613,478 (GRCm39)		probably null	Het
Boc	T	C	16: 44,313,188 (GRCm39)	T559A	probably damaging	Het
Brip1	A	G	11: 86,001,267 (GRCm39)	V723A	possibly damaging	Het
Cnot10	A	C	9: 114,444,123 (GRCm39)	I424S	probably benign	Het
Cntnap4	T	G	8: 113,529,858 (GRCm39)	S689A	probably benign	Het
Cuzd1	A	T	7: 130,911,460 (GRCm39)	N506K	possibly damaging	Het
Dctn3	T	A	4: 41,715,259 (GRCm39)	T158S	possibly damaging	Het
Dnai2	A	G	11: 114,635,917 (GRCm39)	I301V	probably benign	Het
Epha5	T	A	5: 84,254,649 (GRCm39)	Y489F	probably damaging	Het
Frmd8	T	C	19: 5,915,208 (GRCm39)	N232S	probably benign	Het
Fuca1	T	C	4: 135,660,267 (GRCm39)	Y262H	probably damaging	Het
Gfy	T	C	7: 44,826,975 (GRCm39)	I374V	possibly damaging	Het
Glg1	G	A	8: 111,914,513 (GRCm39)	R424C	probably damaging	Het
Ica1	G	T	6: 8,742,288 (GRCm39)	T115K	probably damaging	Het
Igf2bp2	T	C	16: 21,879,586 (GRCm39)	E511G	probably damaging	Het
Jag2	C	A	12: 112,874,161 (GRCm39)	R998L	probably damaging	Het
Kcnv1	G	T	15: 44,972,513 (GRCm39)	L457I	probably damaging	Het
Mroh2a	C	A	1: 88,170,142 (GRCm39)	A685D	possibly damaging	Het
Ms4a8a	T	A	19: 11,053,743 (GRCm39)	H121L	probably damaging	Het
Muc5b	T	A	7: 141,412,600 (GRCm39)	S1849T	unknown	Het
Myo10	T	C	15: 25,781,496 (GRCm39)	V997A	possibly damaging	Het
Or10g3b	A	G	14: 52,587,156 (GRCm39)	Y116H	probably damaging	Het
Or10g9b	T	A	9: 39,917,844 (GRCm39)	M134L	probably benign	Het
Or8g54	T	A	9: 39,706,905 (GRCm39)	I78N	probably benign	Het
Pate2	T	A	9: 35,581,801 (GRCm39)	C32S	probably damaging	Het
Per1	G	T	11: 68,992,284 (GRCm39)	Q179H	probably damaging	Het
Pierce1	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	TCTCTGGGGCAGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTCTGGGGCGGGCTTAGCCTTGGGCTCCCCCGGCTCCGGCTCCTC	2: 28,356,122 (GRCm39)		probably benign	Het
Rbp2	T	A	9: 98,391,614 (GRCm39)	V130E	probably damaging	Het
Rictor	T	A	15: 6,825,517 (GRCm39)		probably null	Het
Rundc3a	A	T	11: 102,289,287 (GRCm39)	R153*	probably null	Het
Scrn3	C	T	2: 73,149,826 (GRCm39)	A174V	probably damaging	Het
Serpina10	T	A	12: 103,594,619 (GRCm39)	Q200L	probably benign	Het
Slc25a51	A	T	4: 45,399,365 (GRCm39)	I275N	possibly damaging	Het
Spast	C	T	17: 74,674,281 (GRCm39)	H238Y	possibly damaging	Het
Speg	A	T	1: 75,368,456 (GRCm39)	I775F	possibly damaging	Het
Ssh1	G	T	5: 114,084,851 (GRCm39)	T463K	probably benign	Het
Tm2d3	A	G	7: 65,347,526 (GRCm39)	E151G	probably damaging	Het
Uggt2	A	G	14: 119,263,847 (GRCm39)	I1061T	probably damaging	Het
Unc79	T	G	12: 103,108,267 (GRCm39)	S1941A	probably benign	Het
Vcan	T	C	13: 89,853,244 (GRCm39)	D572G	probably benign	Het
Vmn2r16	T	G	5: 109,488,412 (GRCm39)	S428R	probably benign	Het
Zeb1	A	G	18: 5,591,917 (GRCm39)	D3G	probably damaging	Het
Zfp352	A	G	4: 90,112,936 (GRCm39)	T359A	probably benign	Het
Zfp987	C	A	4: 146,062,315 (GRCm39)	D582E	probably benign	Het
Zg16	G	A	7: 126,649,692 (GRCm39)	P90S	possibly 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
R5748:Ebpl	UTSW	14	61,597,793 (GRCm39)	missense	probably null	0.99
R6578:Ebpl	UTSW	14	61,597,769 (GRCm39)	missense	probably benign
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'- TAATGGCCGCTTCAAAACAC -3'
(R):5'- CTGCTGTAACTCCGAGTTCC -3'

Sequencing Primer
(F):5'- GGTTGCCCTGAGAACTTA -3'
(R):5'- GTAACTCCGAGTTCCAAGCTGTG -3'

Posted On

2018-10-18