Incidental Mutation 'R5778:Erg28'
ID 446839
Institutional Source Beutler Lab
Gene Symbol Erg28
Ensembl Gene ENSMUSG00000021252
Gene Name ergosterol biosynthesis 28
Synonyms 0610007P14Rik, ORF11
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.108) question?
Stock # R5778 (G1)
Quality Score 225
Status Not validated
Chromosome 12
Chromosomal Location 85862222-85871324 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 85866254 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 75 (T75A)
Ref Sequence ENSEMBL: ENSMUSP00000021676 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021676] [ENSMUST00000142331]
AlphaFold Q9ERY9
Predicted Effect possibly damaging
Transcript: ENSMUST00000021676
AA Change: T75A

PolyPhen 2 Score 0.719 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000021676
Gene: ENSMUSG00000021252
AA Change: T75A

DomainStartEndE-ValueType
Pfam:Erg28 6 115 5.9e-43 PFAM
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: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 A G 8: 124,618,864 (GRCm39) S340P probably benign Het
Anpep T C 7: 79,486,139 (GRCm39) T528A probably benign Het
Apob T A 12: 8,065,074 (GRCm39) D4014E probably benign Het
Atp23 A G 10: 126,735,451 (GRCm39) C78R probably damaging Het
Atp8b3 A G 10: 80,356,007 (GRCm39) F1235S probably benign Het
B3gnt3 T C 8: 72,145,582 (GRCm39) D262G probably benign Het
Bltp1 A T 3: 37,012,863 (GRCm39) I1848F probably damaging Het
Brca1 G A 11: 101,416,127 (GRCm39) A669V possibly damaging Het
Caprin2 A T 6: 148,770,820 (GRCm39) S391R probably benign Het
Cdh15 G A 8: 123,583,326 (GRCm39) R43Q possibly damaging Het
Celsr1 A T 15: 85,917,156 (GRCm39) N272K probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Dsg1b A T 18: 20,542,279 (GRCm39) T929S possibly damaging Het
Dusp16 G T 6: 134,695,277 (GRCm39) T518N probably benign Het
Eno2 A T 6: 124,743,261 (GRCm39) H158Q probably damaging Het
Ep400 T C 5: 110,867,450 (GRCm39) D954G unknown Het
Fam135b T A 15: 71,350,881 (GRCm39) T332S probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm39) F357L probably damaging Het
Fcgr2b C T 1: 170,790,957 (GRCm39) G279R probably damaging Het
Fryl A T 5: 73,230,121 (GRCm39) L1679M probably damaging Het
Galm T A 17: 80,435,146 (GRCm39) M1K probably null Het
Gsg1 A T 6: 135,221,348 (GRCm39) I17N possibly damaging Het
Hif3a A T 7: 16,785,909 (GRCm39) I129N probably damaging Het
Ighv1-11 A T 12: 114,576,051 (GRCm39) W55R probably damaging Het
Ighv1-20 C A 12: 114,687,497 (GRCm39) K82N probably benign Het
Igsf21 C T 4: 139,764,832 (GRCm39) E148K probably benign Het
Il22b C A 10: 118,130,768 (GRCm39) E43* probably null Het
Klhdc7b A T 15: 89,271,523 (GRCm39) R802W probably damaging Het
Krt8 T C 15: 101,912,374 (GRCm39) I101V probably damaging Het
Lrrc7 A G 3: 157,876,380 (GRCm39) L570P probably damaging Het
Map4k1 C G 7: 28,693,646 (GRCm39) N412K probably benign Het
Metrnl A T 11: 121,605,564 (GRCm39) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm39) D202E probably damaging Het
Mpp2 A T 11: 101,955,269 (GRCm39) S119T probably benign Het
Ncoa6 T C 2: 155,248,688 (GRCm39) T1539A probably benign Het
Nlrc5 A G 8: 95,206,154 (GRCm39) T715A possibly damaging Het
Nsd1 T A 13: 55,454,792 (GRCm39) N1963K probably damaging Het
Nsd3 T C 8: 26,149,834 (GRCm39) Y340H probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or5d39 T A 2: 87,979,961 (GRCm39) Y134F probably damaging Het
Or7d10 G T 9: 19,832,337 (GRCm39) M277I probably benign Het
Pcdh8 T C 14: 80,008,197 (GRCm39) E122G probably damaging Het
Pcmtd2 A C 2: 181,496,991 (GRCm39) T323P probably benign Het
Pign C A 1: 105,519,447 (GRCm39) G492C probably damaging Het
Plppr3 A G 10: 79,702,337 (GRCm39) V245A possibly damaging Het
Prl7a2 C T 13: 27,844,983 (GRCm39) W134* probably null Het
Prom1 A T 5: 44,164,389 (GRCm39) N722K probably benign Het
Rasal2 A T 1: 156,988,860 (GRCm39) N663K probably damaging Het
Rgl1 G T 1: 152,428,172 (GRCm39) H315Q probably benign Het
Smpdl3a C A 10: 57,677,097 (GRCm39) A65E probably damaging Het
Spdye4b G A 5: 143,188,142 (GRCm39) D212N probably damaging Het
Tafa3 T A 3: 104,679,505 (GRCm39) K126N probably damaging Het
Tanc1 G T 2: 59,529,691 (GRCm39) probably null Het
Trio A G 15: 27,856,250 (GRCm39) V706A probably benign Het
Tshz1 T A 18: 84,033,805 (GRCm39) Q201L probably damaging Het
Ubqln1 C T 13: 58,331,131 (GRCm39) M365I probably benign Het
Usp42 A T 5: 143,705,331 (GRCm39) Y383N probably damaging Het
Vmn1r189 A G 13: 22,286,552 (GRCm39) I95T probably damaging Het
Vmn2r49 A T 7: 9,710,274 (GRCm39) S819R 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
R5735:Erg28 UTSW 12 85,862,926 (GRCm39) missense probably benign 0.43
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'- GAAAGGTGTGCTCTAATCACG -3'
(R):5'- CATCACCAGGGAAGCAGACTAG -3'

Sequencing Primer
(F):5'- CAAGGACAGTGCCGTGCTATTTG -3'
(R):5'- CAGACTAGCATAGGACAAGGCTC -3'
Posted On 2016-12-15