Incidental Mutation 'IGL03074:Sdr39u1'
ID 417633
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 # IGL03074
Quality Score
Status
Chromosome 14
Chromosomal Location 56134740-56137750 bp(-) (GRCm39)
Type of Mutation critical splice donor site (1 bp from exon)
DNA Base Change (assembly) C to T at 56137103 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227032] [ENSMUST00000227211] [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 null
Transcript: ENSMUST00000111325
SMART Domains Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223

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: ENSMUST00000227032
Predicted Effect probably null
Transcript: ENSMUST00000227211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227163
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228151
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Predicted Effect probably null
Transcript: ENSMUST00000227387
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T A 11: 110,201,101 (GRCm39) Y433F probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Anks4b A T 7: 119,781,140 (GRCm39) D57V probably damaging Het
Brwd1 A G 16: 95,813,050 (GRCm39) V1486A probably benign Het
Cd163 A G 6: 124,294,945 (GRCm39) T670A probably benign Het
Dmtf1 T C 5: 9,174,435 (GRCm39) probably benign Het
Dnajc22 T A 15: 98,999,403 (GRCm39) L196Q probably damaging Het
Dock9 A G 14: 121,844,682 (GRCm39) L1097P possibly damaging Het
Dtna T C 18: 23,735,662 (GRCm39) V339A possibly damaging Het
Dysf T A 6: 84,165,208 (GRCm39) S1646T probably benign Het
Ermp1 A T 19: 29,589,935 (GRCm39) Y893N probably damaging Het
Etv6 A T 6: 134,199,888 (GRCm39) N76I probably damaging Het
Farp2 T C 1: 93,488,049 (GRCm39) V92A probably benign Het
Fgf21 T C 7: 45,263,605 (GRCm39) T158A probably benign Het
Gcm1 T C 9: 77,972,057 (GRCm39) S333P possibly damaging Het
Grm7 T A 6: 111,472,604 (GRCm39) probably null Het
Itgae T C 11: 73,016,136 (GRCm39) F782L probably benign Het
Kbtbd8 A G 6: 95,099,333 (GRCm39) T204A probably damaging Het
Kcp A G 6: 29,496,630 (GRCm39) C627R probably damaging Het
Loxhd1 T C 18: 77,529,480 (GRCm39) V2041A possibly damaging Het
Mcm5 T C 8: 75,845,929 (GRCm39) M379T possibly damaging Het
Mcu A G 10: 59,303,580 (GRCm39) S86P probably damaging Het
Naa25 T C 5: 121,546,400 (GRCm39) probably null Het
Or10ag59 T A 2: 87,405,680 (GRCm39) L84H possibly damaging Het
Or5b117 A G 19: 13,431,417 (GRCm39) S155P probably damaging Het
Osbpl9 T C 4: 108,929,158 (GRCm39) H400R probably damaging Het
Pip5kl1 A G 2: 32,470,353 (GRCm39) N278D probably damaging Het
Ppp1r12b T C 1: 134,763,758 (GRCm39) T759A probably benign Het
Psg27 T C 7: 18,294,454 (GRCm39) T318A probably benign Het
Rtkn2 T G 10: 67,877,551 (GRCm39) L537R probably damaging Het
Slc38a1 A T 15: 96,490,405 (GRCm39) I124N possibly damaging Het
Sumf2 T A 5: 129,888,674 (GRCm39) probably benign Het
Thsd7a A G 6: 12,324,680 (GRCm39) Y1464H probably damaging Het
Unc80 C T 1: 66,710,877 (GRCm39) probably benign Het
Zfp366 A G 13: 99,382,913 (GRCm39) D692G probably benign Het
Other mutations in Sdr39u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Sdr39u1 APN 14 56,135,463 (GRCm39) missense probably damaging 1.00
IGL02490:Sdr39u1 APN 14 56,135,798 (GRCm39) missense probably damaging 0.98
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 2016-08-02