Incidental Mutation 'IGL02236:Dhrs3'
ID 285878
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs3
Ensembl Gene ENSMUSG00000066026
Gene Name dehydrogenase/reductase 3
Synonyms dehydrogenase/reductase (SDR family) member 3, retSDR1, Rsdr1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02236
Quality Score
Status
Chromosome 4
Chromosomal Location 144619397-144654779 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 144620133 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Leucine at position 17 (I17L)
Ref Sequence ENSEMBL: ENSMUSP00000122552 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084184] [ENSMUST00000105744] [ENSMUST00000142808] [ENSMUST00000154208] [ENSMUST00000171001]
AlphaFold O88876
Predicted Effect probably benign
Transcript: ENSMUST00000084184
AA Change: I17L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000081200
Gene: ENSMUSG00000066026
AA Change: I17L

DomainStartEndE-ValueType
Pfam:adh_short 39 121 1.7e-19 PFAM
Pfam:KR 40 119 1.5e-16 PFAM
Pfam:Polysacc_synt_2 41 121 1.3e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000105744
SMART Domains Protein: ENSMUSP00000101370
Gene: ENSMUSG00000066026

DomainStartEndE-ValueType
Pfam:adh_short 13 92 2.1e-18 PFAM
Pfam:KR 14 93 1.5e-15 PFAM
Pfam:Polysacc_synt_2 15 90 4.2e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128926
Predicted Effect probably benign
Transcript: ENSMUST00000142808
SMART Domains Protein: ENSMUSP00000122578
Gene: ENSMUSG00000066026

DomainStartEndE-ValueType
Pfam:adh_short 13 146 6.1e-29 PFAM
Pfam:KR 14 139 5.9e-20 PFAM
Pfam:Polysacc_synt_2 15 109 4.2e-10 PFAM
Pfam:Epimerase 15 124 3.8e-8 PFAM
Pfam:adh_short_C2 19 146 3.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000154208
AA Change: I17L

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000122552
Gene: ENSMUSG00000066026
AA Change: I17L

DomainStartEndE-ValueType
Pfam:adh_short 39 233 7.8e-42 PFAM
Pfam:KR 40 213 2.3e-21 PFAM
Pfam:Polysacc_synt_2 41 132 2.8e-9 PFAM
Pfam:adh_short_C2 45 205 4.8e-14 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000171001
SMART Domains Protein: ENSMUSP00000126154
Gene: ENSMUSG00000066026

DomainStartEndE-ValueType
Pfam:adh_short 13 181 2.1e-34 PFAM
Pfam:KR 14 191 2.7e-21 PFAM
Pfam:Polysacc_synt_2 15 106 1.8e-9 PFAM
Pfam:Epimerase 15 124 2e-7 PFAM
Pfam:adh_short_C2 19 179 2e-14 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Short-chain dehydrogenases/reductases (SDRs), such as DHRS3, catalyze the oxidation/reduction of a wide range of substrates, including retinoids and steroids (Haeseleer and Palczewski, 2000 [PubMed 10800688]).[supplied by OMIM, Jun 2009]
PHENOTYPE: Mice homozygous for a targeted mutation die before weaning age. Mice homozygous for a gene trap allele exhibit perinatal lethality, altered retinoid metabolism and heart, craniofacial and skeletal defects. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 31 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Baz1b T C 5: 135,246,138 (GRCm39) L529P probably damaging Het
Bdp1 A T 13: 100,197,399 (GRCm39) D995E probably benign Het
Cd22 T C 7: 30,566,893 (GRCm39) N607S possibly damaging Het
Ddx10 T A 9: 53,146,682 (GRCm39) D180V probably damaging Het
Dennd4c T C 4: 86,725,672 (GRCm39) Y709H possibly damaging Het
Dnah8 A T 17: 30,868,747 (GRCm39) K394* probably null Het
Flnc T A 6: 29,454,375 (GRCm39) I1896N probably damaging Het
Glipr1l2 A G 10: 111,928,534 (GRCm39) Y143C probably damaging Het
Lmo7 T C 14: 102,163,524 (GRCm39) probably benign Het
Lpp C T 16: 24,580,895 (GRCm39) R204W probably damaging Het
Mast3 A G 8: 71,241,888 (GRCm39) S98P probably benign Het
Myf5 A G 10: 107,320,051 (GRCm39) S200P possibly damaging Het
Or52r1b T G 7: 102,690,928 (GRCm39) S76A possibly damaging Het
Pramel12 G A 4: 143,143,512 (GRCm39) V93I probably benign Het
Recql5 A C 11: 115,784,856 (GRCm39) S824A probably benign Het
Reg2 A G 6: 78,383,188 (GRCm39) E45G probably damaging Het
Rergl T C 6: 139,471,918 (GRCm39) D77G probably benign Het
Rnf224 T C 2: 25,126,260 (GRCm39) D31G probably damaging Het
Sema4c C T 1: 36,592,166 (GRCm39) S227N probably damaging Het
Sgsm2 C T 11: 74,750,698 (GRCm39) G439D probably damaging Het
Smap2 T A 4: 120,832,587 (GRCm39) M185L probably benign Het
Spty2d1 A G 7: 46,647,360 (GRCm39) V523A probably benign Het
Stk17b C A 1: 53,803,247 (GRCm39) R184L probably damaging Het
Syt13 A G 2: 92,771,210 (GRCm39) D99G probably damaging Het
Trav14-1 T A 14: 53,791,763 (GRCm39) S38T possibly damaging Het
Ttn T C 2: 76,700,812 (GRCm39) probably benign Het
Usp17la G A 7: 104,510,353 (GRCm39) W319* probably null Het
Vmn2r73 T C 7: 85,521,902 (GRCm39) T146A probably benign Het
Vwa3b C T 1: 37,193,132 (GRCm39) probably benign Het
Zfp13 A T 17: 23,799,739 (GRCm39) probably benign Het
Zscan18 A C 7: 12,503,251 (GRCm39) D769E probably benign Het
Other mutations in Dhrs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01730:Dhrs3 APN 4 144,646,042 (GRCm39) missense probably damaging 0.96
IGL02226:Dhrs3 APN 4 144,650,519 (GRCm39) missense possibly damaging 0.94
IGL02728:Dhrs3 APN 4 144,646,642 (GRCm39) missense probably damaging 0.98
R0079:Dhrs3 UTSW 4 144,646,618 (GRCm39) missense probably damaging 0.99
R0734:Dhrs3 UTSW 4 144,653,746 (GRCm39) missense probably damaging 0.99
R1474:Dhrs3 UTSW 4 144,646,057 (GRCm39) missense probably damaging 1.00
R1632:Dhrs3 UTSW 4 144,620,116 (GRCm39) missense probably benign 0.30
R2010:Dhrs3 UTSW 4 144,653,758 (GRCm39) missense possibly damaging 0.49
R3162:Dhrs3 UTSW 4 144,646,016 (GRCm39) missense possibly damaging 0.80
R3162:Dhrs3 UTSW 4 144,646,016 (GRCm39) missense possibly damaging 0.80
R3176:Dhrs3 UTSW 4 144,650,510 (GRCm39) missense probably benign 0.00
R3276:Dhrs3 UTSW 4 144,650,510 (GRCm39) missense probably benign 0.00
R3440:Dhrs3 UTSW 4 144,646,628 (GRCm39) missense probably damaging 1.00
R3709:Dhrs3 UTSW 4 144,620,281 (GRCm39) critical splice donor site probably null
R3795:Dhrs3 UTSW 4 144,645,962 (GRCm39) missense probably damaging 0.99
R5571:Dhrs3 UTSW 4 144,620,134 (GRCm39) missense probably benign 0.34
R5943:Dhrs3 UTSW 4 144,646,546 (GRCm39) missense possibly damaging 0.88
R6457:Dhrs3 UTSW 4 144,646,522 (GRCm39) missense probably damaging 1.00
R7607:Dhrs3 UTSW 4 144,650,510 (GRCm39) missense probably benign 0.00
R8144:Dhrs3 UTSW 4 144,646,474 (GRCm39) missense probably damaging 1.00
R8371:Dhrs3 UTSW 4 144,645,953 (GRCm39) critical splice acceptor site probably null
R9029:Dhrs3 UTSW 4 144,653,755 (GRCm39) missense probably damaging 1.00
R9112:Dhrs3 UTSW 4 144,653,769 (GRCm39) missense probably benign 0.41
R9698:Dhrs3 UTSW 4 144,646,508 (GRCm39) missense possibly damaging 0.78
Posted On 2015-04-16