Incidental Mutation 'IGL00966:Sdr39u1'
ID 28980
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Sdr39u1
Ensembl Gene ENSMUSG00000022223
Gene Name short chain dehydrogenase/reductase family 39U, member 1
Synonyms 2310014G06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # IGL00966
Quality Score
Status
Chromosome 14
Chromosomal Location 56134740-56137750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56135463 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 160 (V160A)
Ref Sequence ENSEMBL: ENSMUSP00000106957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227211] [ENSMUST00000227032] [ENSMUST00000228462]
AlphaFold Q5M8N4
Predicted Effect probably benign
Transcript: ENSMUST00000022831
SMART Domains Protein: ENSMUSP00000022831
Gene: ENSMUSG00000047153

DomainStartEndE-ValueType
low complexity region 350 365 N/A INTRINSIC
low complexity region 367 380 N/A INTRINSIC
Pfam:RNase_Zc3h12a 429 582 1.9e-66 PFAM
low complexity region 623 637 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000111325
AA Change: V160A

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223
AA Change: V160A

DomainStartEndE-ValueType
Pfam:Epimerase 3 216 2.7e-7 PFAM
Pfam:DUF1731 245 291 5.9e-21 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000226273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226338
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226427
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226746
Predicted Effect probably benign
Transcript: ENSMUST00000227387
AA Change: V104A

PolyPhen 2 Score 0.326 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227163
Predicted Effect probably benign
Transcript: ENSMUST00000227211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect probably benign
Transcript: ENSMUST00000227032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228209
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of the short-chain dehydrogenases/reductases (SDR) superfamily, which includes both classical and extended types. The encoded protein represents an extended type, with similarity to epimerases. Alternatively spliced transcript variants that encode different protein isoforms have been described. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 A G 9: 104,003,855 (GRCm39) E649G probably damaging Het
Adgre1 C A 17: 57,726,335 (GRCm39) T402K probably benign Het
Agap3 A G 5: 24,706,000 (GRCm39) probably benign Het
Amy1 T C 3: 113,349,689 (GRCm39) I494V probably benign Het
Arhgef40 G A 14: 52,229,155 (GRCm39) probably null Het
Atp2c2 T C 8: 120,472,329 (GRCm39) V461A probably benign Het
Bub1 A G 2: 127,652,583 (GRCm39) S595P probably damaging Het
Cdcp3 T A 7: 130,844,836 (GRCm39) Y692* probably null Het
Cmya5 C T 13: 93,234,414 (GRCm39) V225I probably benign Het
Cnbd1 T C 4: 18,906,988 (GRCm39) probably benign Het
Cux1 A T 5: 136,340,345 (GRCm39) probably benign Het
Dsg3 T A 18: 20,656,664 (GRCm39) I178N probably benign Het
Dus2 T A 8: 106,752,533 (GRCm39) probably null Het
Enpp1 G A 10: 24,529,929 (GRCm39) H570Y probably damaging Het
Ephb3 A C 16: 21,036,044 (GRCm39) T57P probably benign Het
Fat3 C A 9: 15,910,390 (GRCm39) V1871F possibly damaging Het
Fbll1 T C 11: 35,688,874 (GRCm39) T130A probably benign Het
Fbxl20 C T 11: 98,001,800 (GRCm39) S99N probably damaging Het
Folr2 T C 7: 101,489,593 (GRCm39) E182G probably damaging Het
Fras1 A G 5: 96,703,080 (GRCm39) D281G probably benign Het
Gm17175 G T 14: 51,810,526 (GRCm39) Q34K possibly damaging Het
Gm5592 T A 7: 40,938,519 (GRCm39) D600E probably damaging Het
Gtf2e1 T C 16: 37,336,092 (GRCm39) E294G probably benign Het
Gtf3c2 A G 5: 31,327,517 (GRCm39) probably benign Het
Heg1 T C 16: 33,530,977 (GRCm39) L151P probably damaging Het
Hmcn2 T G 2: 31,319,006 (GRCm39) V3902G probably damaging Het
Ift140 A G 17: 25,237,776 (GRCm39) Y4C probably damaging Het
Ighv1-19 A C 12: 114,672,569 (GRCm39) V17G possibly damaging Het
Iqca1 T A 1: 89,973,379 (GRCm39) I770F probably benign Het
Jak3 T A 8: 72,131,656 (GRCm39) C115S probably benign Het
Kif18b A T 11: 102,805,501 (GRCm39) M252K probably damaging Het
Klhdc7a A T 4: 139,694,236 (GRCm39) V237D probably benign Het
Klhl11 C T 11: 100,354,031 (GRCm39) V597I possibly damaging Het
Krt72 T A 15: 101,689,396 (GRCm39) Y312F probably damaging Het
Lonp2 T A 8: 87,360,600 (GRCm39) I191N probably damaging Het
Npc2 A T 12: 84,819,619 (GRCm39) I8N possibly damaging Het
Nr4a1 T C 15: 101,170,669 (GRCm39) L413P probably damaging Het
Nup133 T C 8: 124,638,645 (GRCm39) N895S probably damaging Het
Or7e175 T C 9: 20,048,531 (GRCm39) F40L probably benign Het
Ppef1 A G X: 159,468,290 (GRCm39) I94T probably benign Het
Prrt4 G A 6: 29,176,455 (GRCm39) T290I probably benign Het
Ptpru A T 4: 131,499,927 (GRCm39) V1239E probably damaging Het
Rab8b T G 9: 66,760,274 (GRCm39) M117L probably benign Het
S1pr5 T A 9: 21,155,512 (GRCm39) I305F possibly damaging Het
Slc6a21 C T 7: 44,937,668 (GRCm39) T653M probably benign Het
Stk39 T A 2: 68,042,302 (GRCm39) E544D probably benign Het
Tgfbr3 T C 5: 107,290,367 (GRCm39) T313A probably benign Het
Tle6 A T 10: 81,430,292 (GRCm39) L287M probably damaging Het
Tmc2 A G 2: 130,105,932 (GRCm39) H821R probably benign Het
Tmem230 G T 2: 132,087,897 (GRCm39) D26E probably benign Het
Tnfaip3 A G 10: 18,880,885 (GRCm39) F394S probably damaging Het
Ttn T A 2: 76,641,721 (GRCm39) L13458F probably damaging Het
Vwa5a A T 9: 38,634,675 (GRCm39) N161I probably benign Het
Wdr87-ps C A 7: 29,236,888 (GRCm39) noncoding transcript Het
Other mutations in Sdr39u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02490:Sdr39u1 APN 14 56,135,798 (GRCm39) missense probably damaging 0.98
IGL03074:Sdr39u1 APN 14 56,137,103 (GRCm39) critical splice donor site probably null
R2240:Sdr39u1 UTSW 14 56,137,124 (GRCm39) missense probably damaging 1.00
R5822:Sdr39u1 UTSW 14 56,135,196 (GRCm39) missense probably benign 0.01
R5937:Sdr39u1 UTSW 14 56,135,364 (GRCm39) missense probably damaging 1.00
R6377:Sdr39u1 UTSW 14 56,135,166 (GRCm39) missense probably benign 0.00
R6620:Sdr39u1 UTSW 14 56,135,172 (GRCm39) missense probably damaging 1.00
R7685:Sdr39u1 UTSW 14 56,135,191 (GRCm39) nonsense probably null
R7710:Sdr39u1 UTSW 14 56,137,116 (GRCm39) missense probably benign 0.13
R7996:Sdr39u1 UTSW 14 56,135,344 (GRCm39) nonsense probably null
R8350:Sdr39u1 UTSW 14 56,135,363 (GRCm39) missense probably damaging 1.00
R8450:Sdr39u1 UTSW 14 56,135,363 (GRCm39) missense probably damaging 1.00
R8964:Sdr39u1 UTSW 14 56,135,170 (GRCm39) missense possibly damaging 0.54
R9256:Sdr39u1 UTSW 14 56,135,209 (GRCm39) missense probably benign 0.09
R9766:Sdr39u1 UTSW 14 56,135,194 (GRCm39) missense probably benign 0.06
Posted On 2013-04-17