Incidental Mutation 'R5937:Sdr39u1'
ID 462343
Institutional Source Beutler Lab
Gene Symbol Sdr39u1
Ensembl Gene ENSMUSG00000022223
Gene Name short chain dehydrogenase/reductase family 39U, member 1
Synonyms 2310014G06Rik
MMRRC Submission 043242-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.140) question?
Stock # R5937 (G1)
Quality Score 225
Status Not validated
Chromosome 14
Chromosomal Location 56134740-56137750 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 56135364 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Lysine at position 193 (I193K)
Ref Sequence ENSEMBL: ENSMUSP00000106957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022831] [ENSMUST00000111325] [ENSMUST00000226273] [ENSMUST00000227032] [ENSMUST00000228462] [ENSMUST00000227211]
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: I193K

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000106957
Gene: ENSMUSG00000022223
AA Change: I193K

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 unknown
Transcript: ENSMUST00000227387
AA Change: I137K
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228151
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227139
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227965
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227268
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227712
Predicted Effect probably benign
Transcript: ENSMUST00000228462
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227163
Predicted Effect probably benign
Transcript: ENSMUST00000227211
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227499
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227677
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.4%
  • 10x: 97.3%
  • 20x: 91.5%
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: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1bg A T 15: 60,791,495 (GRCm39) W314R probably benign Het
Adgrv1 A T 13: 81,255,194 (GRCm39) V6143E probably damaging Het
Agap3 C T 5: 24,682,815 (GRCm39) T261I probably damaging Het
Ano6 T C 15: 95,811,838 (GRCm39) I241T probably damaging Het
Arhgef28 T C 13: 98,076,051 (GRCm39) T1328A probably benign Het
Capn10 C T 1: 92,867,105 (GRCm39) R112W probably damaging Het
Car5a A T 8: 122,666,560 (GRCm39) W46R probably damaging Het
Cntn6 C A 6: 104,810,064 (GRCm39) T582K possibly damaging Het
Ctsh T C 9: 89,943,509 (GRCm39) V60A probably benign Het
Ctsll3 A G 13: 60,947,410 (GRCm39) F259L probably damaging Het
Dennd2b A T 7: 109,156,478 (GRCm39) C91S possibly damaging Het
Fam228a T C 12: 4,787,725 (GRCm39) E16G probably damaging Het
G3bp2 A G 5: 92,203,256 (GRCm39) I388T probably damaging Het
Galnt5 A T 2: 57,928,949 (GRCm39) K926N probably benign Het
Gm10097 G A 10: 5,019,485 (GRCm39) probably benign Het
Gm9978 T A 10: 78,322,675 (GRCm39) noncoding transcript Het
Gria1 A G 11: 57,080,559 (GRCm39) T112A probably benign Het
Hnrnpk A C 13: 58,543,016 (GRCm39) V134G probably damaging Het
Insr A G 8: 3,224,808 (GRCm39) V220A probably benign Het
Lhx4 A G 1: 155,586,023 (GRCm39) I96T probably damaging Het
Lrp1 T C 10: 127,419,745 (GRCm39) T955A possibly damaging Het
Lrtm1 T C 14: 28,743,787 (GRCm39) V85A possibly damaging Het
Man2a2 T C 7: 80,013,251 (GRCm39) Y514C probably damaging Het
Npas1 T A 7: 16,197,187 (GRCm39) D226V probably benign Het
Nrcam G A 12: 44,619,074 (GRCm39) V858I probably benign Het
Or14c40 G T 7: 86,313,684 (GRCm39) L271F probably benign Het
Or5b108 T A 19: 13,168,675 (GRCm39) S215T probably damaging Het
Pde6b G T 5: 108,572,193 (GRCm39) A478S probably benign Het
Pex1 T A 5: 3,674,487 (GRCm39) N789K possibly damaging Het
Plekha6 A G 1: 133,187,839 (GRCm39) D120G possibly damaging Het
Pomgnt1 A G 4: 116,011,110 (GRCm39) T220A probably benign Het
Sec61a2 C A 2: 5,891,368 (GRCm39) M54I probably benign Het
Sema5a A G 15: 32,574,987 (GRCm39) Y365C probably damaging Het
Sra1 C T 18: 36,804,652 (GRCm39) probably null Het
Taf5 C T 19: 47,070,334 (GRCm39) S640L probably damaging Het
Tas2r140 T A 6: 133,032,236 (GRCm39) H174L probably benign Het
Tmem63a T A 1: 180,788,716 (GRCm39) V351D probably damaging Het
Ttll7 C T 3: 146,649,847 (GRCm39) Q626* probably null Het
Ubn2 T A 6: 38,440,917 (GRCm39) V263E possibly damaging Het
Vmn2r106 C T 17: 20,505,667 (GRCm39) W9* probably null Het
Xrcc3 C G 12: 111,774,406 (GRCm39) C141S probably null Het
Zfp516 T A 18: 82,974,958 (GRCm39) D385E probably damaging 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
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
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
Predicted Primers PCR Primer
(F):5'- TTCTCCAAAGACCGCTCGTAC -3'
(R):5'- AACATGGACGATTCCTGGGC -3'

Sequencing Primer
(F):5'- AGACCGCTCGTACCACAGTG -3'
(R):5'- CACTATTACTTTAGCTAGCAGAGGG -3'
Posted On 2017-02-28