Incidental Mutation 'R2304:Erg28'
ID 244534
Institutional Source Beutler Lab
Gene Symbol Erg28
Ensembl Gene ENSMUSG00000021252
Gene Name ergosterol biosynthesis 28
Synonyms 0610007P14Rik, ORF11
MMRRC Submission 040303-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R2304 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85862222-85871324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 85862937 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 125 (L125P)
Ref Sequence ENSEMBL: ENSMUSP00000021676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021676] [ENSMUST00000040461] [ENSMUST00000142331]
AlphaFold Q9ERY9
Predicted Effect probably damaging
Transcript: ENSMUST00000021676
AA Change: L125P

PolyPhen 2 Score 0.982 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021676
Gene: ENSMUSG00000021252
AA Change: L125P

DomainStartEndE-ValueType
Pfam:Erg28 6 115 5.9e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000040461
SMART Domains Protein: ENSMUSP00000035569
Gene: ENSMUSG00000034258

DomainStartEndE-ValueType
Pfam:MFS_1 113 477 1.7e-30 PFAM
transmembrane domain 488 510 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124311
Predicted Effect noncoding transcript
Transcript: ENSMUST00000131681
Predicted Effect probably benign
Transcript: ENSMUST00000142331
SMART Domains Protein: ENSMUSP00000114987
Gene: ENSMUSG00000021252

DomainStartEndE-ValueType
Pfam:Erg28 5 54 1.5e-14 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000148323
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.2%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 23 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam22 T A 5: 8,142,366 (GRCm39) R806S probably damaging Het
Ccdc187 T C 2: 26,171,029 (GRCm39) K483R possibly damaging Het
Dcdc5 T A 2: 106,166,488 (GRCm39) noncoding transcript Het
Dvl1 C T 4: 155,940,041 (GRCm39) S391F probably damaging Het
Gkn3 C T 6: 87,360,507 (GRCm39) A163T probably damaging Het
Gm5449 G T 13: 53,679,899 (GRCm39) noncoding transcript Het
Grid2ip T C 5: 143,373,595 (GRCm39) Y796H probably damaging Het
Mcrip1 A T 11: 120,435,519 (GRCm39) F39I probably damaging Het
Or5w12 T A 2: 87,502,238 (GRCm39) I158L probably benign Het
Prss53 T C 7: 127,487,479 (GRCm39) N291D probably benign Het
Ptpru A T 4: 131,499,879 (GRCm39) V1255D probably damaging Het
Rbl1 T C 2: 156,989,551 (GRCm39) T1023A probably benign Het
Rnaseh2b T C 14: 62,598,838 (GRCm39) S188P probably damaging Het
Sh2d6 T C 6: 72,497,542 (GRCm39) E20G probably damaging Het
Slc13a5 A G 11: 72,149,865 (GRCm39) V172A probably damaging Het
Slco5a1 C T 1: 12,949,486 (GRCm39) G635S probably damaging Het
Sp8 G T 12: 118,812,304 (GRCm39) S53I possibly damaging Het
Tns2 C T 15: 102,017,369 (GRCm39) R281C probably damaging Het
Togaram1 G T 12: 65,023,630 (GRCm39) probably null Het
Trip11 A T 12: 101,865,236 (GRCm39) F146I possibly damaging Het
Vmn1r184 T C 7: 25,966,550 (GRCm39) S99P probably damaging Het
Xpot T C 10: 121,447,488 (GRCm39) I325V probably benign Het
Zfp786 A G 6: 47,797,633 (GRCm39) L435P probably damaging Het
Other mutations in Erg28
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1891:Erg28 UTSW 12 85,862,962 (GRCm39) missense probably benign 0.16
R5427:Erg28 UTSW 12 85,866,341 (GRCm39) missense probably damaging 1.00
R5735:Erg28 UTSW 12 85,862,926 (GRCm39) missense probably benign 0.43
R5778:Erg28 UTSW 12 85,866,254 (GRCm39) missense possibly damaging 0.72
R6383:Erg28 UTSW 12 85,863,203 (GRCm39) missense probably damaging 1.00
R7871:Erg28 UTSW 12 85,866,253 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CCCTCTCGAAAGCTTAAGATGC -3'
(R):5'- TGTTTGTATTTGGAACAGCAGCTC -3'

Sequencing Primer
(F):5'- CTCTCGAAAGCTTAAGATGCTGAAC -3'
(R):5'- ACAGCAGCTCCCACAGTTGG -3'
Posted On 2014-10-30