Incidental Mutation 'IGL01995:Dhrs7b'
ID183658
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs7b
Ensembl Gene ENSMUSG00000042569
Gene Namedehydrogenase/reductase (SDR family) member 7B
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.822) question?
Stock #IGL01995
Quality Score
Status
Chromosome11
Chromosomal Location60830631-60860195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60830715 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Valine at position 2 (I2V)
Ref Sequence ENSEMBL: ENSMUSP00000044924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042281] [ENSMUST00000108718]
Predicted Effect probably benign
Transcript: ENSMUST00000042281
AA Change: I2V

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044924
Gene: ENSMUSG00000042569
AA Change: I2V

DomainStartEndE-ValueType
transmembrane domain 22 41 N/A INTRINSIC
Pfam:KR 53 239 3.9e-14 PFAM
Pfam:adh_short 53 251 1.5e-54 PFAM
Pfam:adh_short_C2 59 276 8.7e-17 PFAM
low complexity region 311 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108718
SMART Domains Protein: ENSMUSP00000104358
Gene: ENSMUSG00000042569

DomainStartEndE-ValueType
transmembrane domain 4 26 N/A INTRINSIC
Pfam:adh_short 38 209 3.8e-35 PFAM
Pfam:KR 38 225 7e-15 PFAM
Pfam:NAD_binding_10 40 265 2.2e-8 PFAM
Pfam:adh_short_C2 44 261 2.9e-17 PFAM
Pfam:DUF1776 131 290 1.9e-7 PFAM
low complexity region 296 308 N/A INTRINSIC
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 is located within the Smith-Magenis syndrome region on chromosome 17. It encodes a protein of unknown function. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap mutation die by weaning age and exhibit esophageal and gastric lesions. Thymic atrophy and muscle degeneration is also seen. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930503E14Rik T C 14: 44,163,845 probably benign Het
AI661453 C A 17: 47,468,517 probably benign Het
Arhgap29 G A 3: 122,014,328 V1052I probably benign Het
Arhgef17 A G 7: 100,928,655 S1029P probably benign Het
Arpc5l T C 2: 39,008,214 S7P probably damaging Het
Asf1b A G 8: 83,955,904 I26V probably benign Het
Cep95 T C 11: 106,806,371 L240P probably damaging Het
Cnmd A G 14: 79,642,068 probably benign Het
Cntn3 T A 6: 102,203,885 N783I probably damaging Het
Col6a2 C A 10: 76,604,842 probably benign Het
Col9a2 T C 4: 121,050,410 probably null Het
Cry2 T C 2: 92,424,632 E126G probably benign Het
Cxcl15 T C 5: 90,794,608 V13A possibly damaging Het
Dbr1 A G 9: 99,583,899 D510G probably benign Het
Dct A G 14: 118,034,243 F392L probably damaging Het
Dgkz A G 2: 91,934,050 probably benign Het
Efnb3 A T 11: 69,556,904 probably null Het
Fbf1 T A 11: 116,151,020 R565S probably null Het
Gimap5 T C 6: 48,752,793 I99T probably damaging Het
Gm9912 A G 3: 149,185,449 L16P unknown Het
Gpr17 A G 18: 31,947,134 L292P probably damaging Het
Hdac10 C T 15: 89,127,598 V129M probably damaging Het
Mfap3l A G 8: 60,671,464 I247V possibly damaging Het
Mtus1 A T 8: 41,084,420 S86R probably damaging Het
Mylk3 A G 8: 85,359,261 S55P possibly damaging Het
Nol6 A T 4: 41,118,567 C745S probably damaging Het
Nudt13 A T 14: 20,306,317 E103D probably damaging Het
Olfr1129 A G 2: 87,575,462 Y126C probably damaging Het
Olfr395 A G 11: 73,907,435 I19T possibly damaging Het
Pdzk1 G T 3: 96,857,371 A324S probably benign Het
Pofut2 T C 10: 77,260,681 V80A possibly damaging Het
Rasip1 A G 7: 45,636,816 D821G probably damaging Het
Rnf10 T A 5: 115,251,102 K273* probably null Het
Slc4a9 A G 18: 36,539,775 M811V possibly damaging Het
Smchd1 T C 17: 71,444,020 D301G probably damaging Het
Tm9sf2 A T 14: 122,143,471 T159S probably benign Het
Tom1l1 G A 11: 90,649,861 P327S probably damaging Het
Trim3 A G 7: 105,618,482 probably benign Het
Trpm6 A C 19: 18,830,327 probably benign Het
Ttc13 A C 8: 124,688,882 L245R probably damaging Het
Txnrd1 T A 10: 82,877,284 V60E probably damaging Het
Ung T A 5: 114,136,386 D173E probably benign Het
Zbtb5 A G 4: 44,995,294 V30A probably damaging Het
Other mutations in Dhrs7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02074:Dhrs7b APN 11 60851754 missense probably benign
PIT4581001:Dhrs7b UTSW 11 60851897 missense possibly damaging 0.53
R0479:Dhrs7b UTSW 11 60855687 splice site probably benign
R0606:Dhrs7b UTSW 11 60830746 splice site probably benign
R1607:Dhrs7b UTSW 11 60851891 missense probably benign 0.13
R1626:Dhrs7b UTSW 11 60844256 missense possibly damaging 0.69
R2679:Dhrs7b UTSW 11 60852518 splice site probably benign
R4928:Dhrs7b UTSW 11 60851925 missense probably benign 0.07
R5977:Dhrs7b UTSW 11 60852502 nonsense probably null
R7207:Dhrs7b UTSW 11 60855797 nonsense probably null
R7270:Dhrs7b UTSW 11 60844229 missense probably benign
R7861:Dhrs7b UTSW 11 60855742 missense probably damaging 1.00
R7944:Dhrs7b UTSW 11 60855742 missense probably damaging 1.00
Posted On2014-05-07