Incidental Mutation 'IGL02490:Sdr39u1'
ID 295598
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 # IGL02490
Quality Score
Status
Chromosome 14
Chromosomal Location 56134740-56137750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 56135798 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Leucine at position 98 (P98L)
Ref Sequence ENSEMBL: ENSMUSP00000153845 (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 benign
Transcript: ENSMUST00000111325
AA Change: P125L

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223
AA Change: P125L

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 damaging
Transcript: ENSMUST00000227211
AA Change: P98L

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227965
Predicted Effect probably benign
Transcript: ENSMUST00000227387
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227677
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227163
Predicted Effect probably benign
Transcript: ENSMUST00000227032
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227712
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227268
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D06Rik A G 6: 89,078,559 (GRCm39) noncoding transcript Het
Adam5 A T 8: 25,271,720 (GRCm39) Y562* probably null Het
Akr1d1 T C 6: 37,535,423 (GRCm39) V269A probably damaging Het
Anks4b A G 7: 119,773,241 (GRCm39) T34A probably damaging Het
Arhgef40 A G 14: 52,226,652 (GRCm39) N232S probably damaging Het
Cdc40 C T 10: 40,717,767 (GRCm39) V379I probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Cdh13 A G 8: 119,822,062 (GRCm39) D307G probably damaging Het
Ces1h A G 8: 94,083,627 (GRCm39) probably null Het
Chchd6 T A 6: 89,361,656 (GRCm39) H249L possibly damaging Het
Clxn T A 16: 14,734,810 (GRCm39) V60E probably benign Het
Cul1 T C 6: 47,491,820 (GRCm39) V392A probably damaging Het
Cwc15 A T 9: 14,413,320 (GRCm39) D34V probably damaging Het
Cyp2c39 T C 19: 39,527,446 (GRCm39) I264T probably damaging Het
Dapk1 A G 13: 60,897,148 (GRCm39) D789G probably damaging Het
Dcdc2a T A 13: 25,291,635 (GRCm39) Y207N probably damaging Het
Flt3 T A 5: 147,268,106 (GRCm39) N960Y probably damaging Het
Fmn1 C T 2: 113,359,817 (GRCm39) probably benign Het
Foxm1 T A 6: 128,350,314 (GRCm39) C400* probably null Het
Ftmt A C 18: 52,464,760 (GRCm39) R25S probably benign Het
Guca1b T C 17: 47,700,190 (GRCm39) probably benign Het
Hectd4 A T 5: 121,456,676 (GRCm39) K680N possibly damaging Het
Hephl1 C A 9: 14,964,981 (GRCm39) R1138L probably benign Het
Il1rl2 T A 1: 40,395,972 (GRCm39) probably benign Het
Ints2 A T 11: 86,124,009 (GRCm39) I593K possibly damaging Het
Iqcg T A 16: 32,855,937 (GRCm39) K213* probably null Het
Kif1b T A 4: 149,288,665 (GRCm39) S1259C probably benign Het
Klc1 C T 12: 111,748,210 (GRCm39) T371M possibly damaging Het
Loxl4 T C 19: 42,593,269 (GRCm39) T301A probably benign Het
Lrrc40 T C 3: 157,768,336 (GRCm39) L497P probably damaging Het
Masp2 C T 4: 148,692,400 (GRCm39) R298W possibly damaging Het
Myo5a A T 9: 75,043,737 (GRCm39) Y242F probably damaging Het
Nup98 A G 7: 101,801,573 (GRCm39) V784A probably damaging Het
Or5w15 T C 2: 87,568,299 (GRCm39) Y123C probably damaging Het
Osbpl1a G T 18: 13,015,341 (GRCm39) probably benign Het
Pcdh10 A G 3: 45,334,922 (GRCm39) Y412C probably damaging Het
Pfkfb2 T A 1: 130,628,589 (GRCm39) Y339F probably damaging Het
Plcb2 T C 2: 118,550,241 (GRCm39) N172D probably damaging Het
Plec T C 15: 76,073,463 (GRCm39) Y517C probably damaging Het
Plod2 G T 9: 92,468,895 (GRCm39) A207S probably benign Het
Plxdc1 A T 11: 97,845,604 (GRCm39) D229E probably benign Het
Ppp3cb A G 14: 20,581,726 (GRCm39) probably null Het
Procr T C 2: 155,595,352 (GRCm39) L52P probably damaging Het
Psme2b G T 11: 48,836,946 (GRCm39) probably benign Het
Rgs22 G A 15: 36,054,993 (GRCm39) A727V probably damaging Het
Rock2 T A 12: 16,998,564 (GRCm39) W277R probably damaging Het
Rpl26 A G 11: 68,795,216 (GRCm39) D112G probably damaging Het
Rxfp1 C A 3: 79,559,474 (GRCm39) probably null Het
Sgms1 T C 19: 32,137,543 (GRCm39) K8E probably damaging Het
Stk31 T C 6: 49,394,469 (GRCm39) V277A probably benign Het
Trav15-1-dv6-1 A C 14: 53,797,588 (GRCm39) E79A probably benign Het
Ttll6 A T 11: 96,047,546 (GRCm39) D715V possibly damaging Het
Ush2a T C 1: 188,542,561 (GRCm39) S3376P probably damaging Het
Vmn2r109 T A 17: 20,761,246 (GRCm39) T704S possibly damaging Het
Zfp27 T A 7: 29,594,360 (GRCm39) H535L possibly damaging Het
Zfp609 A T 9: 65,611,250 (GRCm39) V571D possibly damaging Het
Zfp874a A T 13: 67,590,819 (GRCm39) Y288* probably null Het
Zfp993 T C 4: 146,742,074 (GRCm39) S133P probably damaging Het
Other mutations in Sdr39u1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00966:Sdr39u1 APN 14 56,135,463 (GRCm39) missense probably damaging 1.00
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 2015-04-16