Incidental Mutation 'IGL00715:Dhrs7'
ID10146
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs7
Ensembl Gene ENSMUSG00000021094
Gene Namedehydrogenase/reductase (SDR family) member 7
SynonymsretSDR4, 2310016E22Rik, 5730564L20Rik, retDSR4
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.080) question?
Stock #IGL00715
Quality Score
Status
Chromosome12
Chromosomal Location72650353-72664909 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 72652390 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Leucine at position 296 (M296L)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021512] [ENSMUST00000208307] [ENSMUST00000220821]
Predicted Effect probably benign
Transcript: ENSMUST00000021512
AA Change: M273L

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000021512
Gene: ENSMUSG00000021094
AA Change: M273L

DomainStartEndE-ValueType
transmembrane domain 5 22 N/A INTRINSIC
Pfam:KR 51 227 2.5e-11 PFAM
Pfam:adh_short 51 250 4.4e-52 PFAM
Pfam:adh_short_C2 57 267 1.3e-17 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000208307
Predicted Effect probably benign
Transcript: ENSMUST00000220821
Predicted Effect probably damaging
Transcript: ENSMUST00000221750
AA Change: M296L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
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) family, which has over 46,000 members. Members in this family are enzymes that metabolize many different compounds, such as steroid hormones, prostaglandins, retinoids, lipids and xenobiotics. [provided by RefSeq, Apr 2016]
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Actr3 C T 1: 125,395,076 A385T probably damaging Het
Cdh17 A T 4: 11,797,780 probably benign Het
Cntnap1 C T 11: 101,183,205 probably benign Het
Fmo2 T A 1: 162,888,713 K102* probably null Het
Foxn3 T C 12: 99,196,607 E345G possibly damaging Het
Gabrg1 A G 5: 70,815,955 probably null Het
Gp1ba A C 11: 70,639,918 probably benign Het
Grwd1 A G 7: 45,830,613 Y57H probably damaging Het
Hars2 G A 18: 36,785,936 C83Y probably damaging Het
Il5ra C T 6: 106,712,474 probably benign Het
Itpr3 T C 17: 27,083,629 V87A probably benign Het
Lrig2 A G 3: 104,463,948 V455A probably damaging Het
P2ry10 T A X: 107,102,583 S41R probably damaging Het
Plcb2 C T 2: 118,713,734 probably null Het
Plod2 G A 9: 92,598,614 R420H probably damaging Het
Prkcd T C 14: 30,596,003 N656S probably damaging Het
Serpinb6a A G 13: 33,931,512 F42S possibly damaging Het
Sis A G 3: 72,934,124 I786T probably damaging Het
Slc5a11 C T 7: 123,250,174 A194V probably null Het
Spo11 T C 2: 172,989,032 probably null Het
Trap1a A G X: 139,334,234 D94G unknown Het
Urb1 A G 16: 90,753,321 probably null Het
Usp1 T C 4: 98,934,581 probably null Het
Zfp300 T C X: 21,084,254 D34G probably damaging Het
Zfp507 T C 7: 35,794,712 E302G possibly damaging Het
Other mutations in Dhrs7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00226:Dhrs7 APN 12 72659350 missense probably damaging 1.00
IGL02398:Dhrs7 APN 12 72664692 missense probably damaging 1.00
R0421:Dhrs7 UTSW 12 72653086 splice site probably benign
R0691:Dhrs7 UTSW 12 72652351 missense probably damaging 1.00
R1640:Dhrs7 UTSW 12 72652315 missense possibly damaging 0.86
R1696:Dhrs7 UTSW 12 72653120 missense possibly damaging 0.88
R1727:Dhrs7 UTSW 12 72659464 missense probably damaging 1.00
R1791:Dhrs7 UTSW 12 72653165 missense probably benign 0.13
R2046:Dhrs7 UTSW 12 72652266 missense possibly damaging 0.47
R2124:Dhrs7 UTSW 12 72653177 missense probably damaging 1.00
R2205:Dhrs7 UTSW 12 72656370 missense probably damaging 1.00
R2356:Dhrs7 UTSW 12 72652381 missense probably benign 0.00
R3431:Dhrs7 UTSW 12 72664727 missense probably damaging 0.99
R4492:Dhrs7 UTSW 12 72653125 missense probably damaging 1.00
R4744:Dhrs7 UTSW 12 72652251 missense possibly damaging 0.94
R4747:Dhrs7 UTSW 12 72653118 missense probably benign 0.03
R5050:Dhrs7 UTSW 12 72657410 missense probably damaging 1.00
R5076:Dhrs7 UTSW 12 72659481 missense probably benign 0.00
R5678:Dhrs7 UTSW 12 72657332 missense probably damaging 1.00
R6361:Dhrs7 UTSW 12 72664659 missense probably damaging 0.98
Posted On2012-12-06