Incidental Mutation 'IGL03222:Ebpl'
ID 413690
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ebpl
Ensembl Gene ENSMUSG00000021928
Gene Name emopamil binding protein-like
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock # IGL03222
Quality Score
Status
Chromosome 14
Chromosomal Location 61331742-61360439 bp(-) (GRCm38)
Type of Mutation splice site
DNA Base Change (assembly) A to G at 61342233 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000022494 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022494]
AlphaFold Q9D0P0
Predicted Effect probably benign
Transcript: ENSMUST00000022494
SMART Domains Protein: ENSMUSP00000022494
Gene: ENSMUSG00000021928

DomainStartEndE-ValueType
Pfam:EBP 12 197 1.2e-66 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000158628
Predicted Effect noncoding transcript
Transcript: ENSMUST00000223560
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225112
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921511C20Rik A G X: 127,395,470 D344G probably benign Het
Aqr A T 2: 114,121,256 L877Q probably damaging Het
Ctr9 T C 7: 111,043,050 Y328H probably benign Het
Ebf2 A G 14: 67,411,992 probably null Het
Efcab5 A T 11: 77,137,367 D515E probably benign Het
Gon4l A G 3: 88,895,643 N1187S possibly damaging Het
Hmces A G 6: 87,925,692 R172G probably damaging Het
Ighv14-2 T C 12: 113,994,494 D109G possibly damaging Het
Kcnn1 C T 8: 70,848,199 R423H probably damaging Het
Muc13 T C 16: 33,798,965 S28P unknown Het
Olfr495 A T 7: 108,395,186 D22V possibly damaging Het
Olfr862 G T 9: 19,884,199 Y35* probably null Het
Polg T C 7: 79,454,656 T824A probably damaging Het
Rapgef2 A T 3: 79,087,995 V782D probably damaging Het
Rin2 T A 2: 145,860,195 C270* probably null Het
Sdk2 C A 11: 113,838,431 V1107L probably benign Het
Sema5a T A 15: 32,628,158 V539E probably benign Het
Tiam2 T C 17: 3,438,708 S764P probably damaging Het
Tnfrsf11a A G 1: 105,821,490 Y211C probably damaging Het
Ttn T C 2: 76,755,739 T21883A probably damaging Het
Xkr5 T C 8: 18,937,299 T117A probably damaging Het
Xkr9 T A 1: 13,701,281 Y340* probably null Het
Other mutations in Ebpl
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1740:Ebpl UTSW 14 61341207 missense probably benign 0.01
R4735:Ebpl UTSW 14 61342118 missense probably damaging 0.99
R4744:Ebpl UTSW 14 61360233 missense probably damaging 1.00
R5748:Ebpl UTSW 14 61360344 missense probably null 0.99
R6578:Ebpl UTSW 14 61360320 missense probably benign
R6819:Ebpl UTSW 14 61341246 missense probably damaging 1.00
R6863:Ebpl UTSW 14 61360302 missense probably damaging 0.99
R6903:Ebpl UTSW 14 61360244 nonsense probably null
Posted On 2016-08-02