Incidental Mutation 'R5735:Erg28'
ID 451669
Institutional Source Beutler Lab
Gene Symbol Erg28
Ensembl Gene ENSMUSG00000021252
Gene Name ergosterol biosynthesis 28
Synonyms 0610007P14Rik, ORF11
MMRRC Submission 043349-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5735 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85862222-85871324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 85862926 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Lysine at position 129 (E129K)
Ref Sequence ENSEMBL: ENSMUSP00000021676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021676] [ENSMUST00000040461] [ENSMUST00000142331]
AlphaFold Q9ERY9
Predicted Effect probably benign
Transcript: ENSMUST00000021676
AA Change: E129K

PolyPhen 2 Score 0.428 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000021676
Gene: ENSMUSG00000021252
AA Change: E129K

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: 99.0%
  • 3x: 98.3%
  • 10x: 96.8%
  • 20x: 94.4%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts16 C A 13: 70,984,337 (GRCm39) D109Y possibly damaging Het
Armc8 T A 9: 99,379,447 (GRCm39) probably null Het
Atg4b G T 1: 93,701,519 (GRCm39) G71V probably damaging Het
Atp10b A T 11: 43,042,601 (GRCm39) M54L probably benign Het
Baiap2l1 A G 5: 144,223,112 (GRCm39) L75P probably damaging Het
Bnc2 A C 4: 84,210,908 (GRCm39) L487R probably damaging Het
Cacng7 T C 7: 3,387,539 (GRCm39) S141P probably benign Het
Carmil2 G A 8: 106,424,663 (GRCm39) G1361D probably damaging Het
Cenpf T C 1: 189,386,560 (GRCm39) I1907V probably benign Het
Cep192 T C 18: 68,013,866 (GRCm39) V2422A probably benign Het
Cfap73 T A 5: 120,770,671 (GRCm39) Q33L probably benign Het
Cip2a T A 16: 48,837,856 (GRCm39) probably null Het
Cmtm2a A T 8: 105,019,418 (GRCm39) I57N probably damaging Het
Col6a2 T A 10: 76,435,727 (GRCm39) D836V probably benign Het
Dnah2 A G 11: 69,321,643 (GRCm39) V3839A possibly damaging Het
Enpp1 A T 10: 24,530,817 (GRCm39) F546L possibly damaging Het
Eps8l2 A G 7: 140,940,290 (GRCm39) T507A probably damaging Het
Erlec1 A T 11: 30,900,591 (GRCm39) N153K probably benign Het
Fam234a T C 17: 26,432,679 (GRCm39) E490G probably damaging Het
Fat4 C T 3: 39,003,725 (GRCm39) R1815C probably damaging Het
Galnt1 T G 18: 24,397,577 (GRCm39) I226S possibly damaging Het
Ifnl2 T A 7: 28,209,614 (GRCm39) I58F possibly damaging Het
Itih5 A G 2: 10,245,572 (GRCm39) N554D probably benign Het
Kcna10 A G 3: 107,102,394 (GRCm39) I342V probably benign Het
Kif6 G A 17: 50,139,210 (GRCm39) E561K probably damaging Het
Kl A G 5: 150,915,003 (GRCm39) N910S possibly damaging Het
Lpar2 G T 8: 70,276,385 (GRCm39) R58L probably damaging Het
Macrod2 A G 2: 140,260,809 (GRCm39) T27A possibly damaging Het
Mfsd2a A T 4: 122,843,120 (GRCm39) V387D probably damaging Het
Npas3 A T 12: 54,050,262 (GRCm39) T231S probably benign Het
Or4a70 A T 2: 89,323,812 (GRCm39) N281K probably damaging Het
Or52n5 A T 7: 104,587,966 (GRCm39) T78S probably benign Het
Or5aq1b A T 2: 86,901,756 (GRCm39) C241S probably damaging Het
Or8h10 A G 2: 86,809,044 (GRCm39) V32A probably benign Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pde10a A T 17: 9,160,024 (GRCm39) I432F probably damaging Het
Phka2 ACC AC X: 159,342,862 (GRCm39) probably null Het
Pomt1 G A 2: 32,133,517 (GRCm39) G218R probably damaging Het
Potefam1 A T 2: 111,055,837 (GRCm39) L183* probably null Het
Pramel22 A T 4: 143,381,205 (GRCm39) C273S probably damaging Het
Prdm5 C T 6: 65,904,974 (GRCm39) T157I possibly damaging Het
Psen2 T A 1: 180,068,491 (GRCm39) E54V probably benign Het
Ptpn13 C A 5: 103,702,686 (GRCm39) H1217Q probably benign Het
Ptprt A G 2: 161,376,484 (GRCm39) S1306P probably damaging Het
Ptpru G T 4: 131,565,401 (GRCm39) P23T probably benign Het
Rtn3 T C 19: 7,434,057 (GRCm39) E626G probably damaging Het
Scn3a A T 2: 65,312,622 (GRCm39) M1191K probably damaging Het
Scn3a T A 2: 65,314,803 (GRCm39) N1086I probably benign Het
Sgms2 A T 3: 131,129,866 (GRCm39) M174K probably damaging Het
Skor1 T A 9: 63,053,346 (GRCm39) I180F probably damaging Het
Slit2 T G 5: 48,416,958 (GRCm39) C1003W probably damaging Het
Tbc1d2b T A 9: 90,104,462 (GRCm39) Q560L possibly damaging Het
Themis A G 10: 28,598,530 (GRCm39) I51V probably benign Het
Tmem203 T C 2: 25,146,085 (GRCm39) V135A probably benign Het
Tns1 T C 1: 73,967,138 (GRCm39) T1212A probably benign Het
Trgv5 T G 13: 19,376,695 (GRCm39) H47Q probably benign Het
Trim2 G A 3: 84,075,029 (GRCm39) A697V probably damaging Het
Ubxn4 T C 1: 128,186,677 (GRCm39) S37P possibly damaging Het
Vmn2r17 A G 5: 109,600,716 (GRCm39) I671M possibly damaging Het
Vmn2r94 G T 17: 18,464,066 (GRCm39) S741R probably damaging Het
Vwce C A 19: 10,624,431 (GRCm39) D414E probably benign Het
Zfp397 T C 18: 24,093,249 (GRCm39) S245P possibly damaging Het
Zfp747l1 G T 7: 126,984,579 (GRCm39) H174Q possibly damaging Het
Zfp809 T A 9: 22,150,227 (GRCm39) Y241* probably null Het
Zfp995 C T 17: 22,101,010 (GRCm39) C29Y probably benign Het
Zfta A G 19: 7,400,161 (GRCm39) E209G probably benign Het
Zfyve26 T C 12: 79,320,147 (GRCm39) D1066G probably damaging Het
Other mutations in Erg28
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1891:Erg28 UTSW 12 85,862,962 (GRCm39) missense probably benign 0.16
R2304:Erg28 UTSW 12 85,862,937 (GRCm39) missense probably damaging 0.98
R5427:Erg28 UTSW 12 85,866,341 (GRCm39) missense probably damaging 1.00
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'- CTCGAAAGCTTAAGATGCTGAACC -3'
(R):5'- CAGAGTTGTTTGTATTTGGAACAGC -3'

Sequencing Primer
(F):5'- GCTTAAGATGCTGAACCTAGATG -3'
(R):5'- GTATTTGGAACAGCAGCTCCC -3'
Posted On 2017-01-03