Incidental Mutation 'IGL02074:Dhrs7b'
ID 185923
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Dhrs7b
Ensembl Gene ENSMUSG00000042569
Gene Name dehydrogenase/reductase 7B
Synonyms dehydrogenase/reductase (SDR family) member 7B
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # IGL02074
Quality Score
Status
Chromosome 11
Chromosomal Location 60721457-60749249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 60742580 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Lysine at position 91 (Q91K)
Ref Sequence ENSEMBL: ENSMUSP00000104358 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042281] [ENSMUST00000108718]
AlphaFold Q99J47
Predicted Effect probably benign
Transcript: ENSMUST00000042281
AA Change: Q106K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000044924
Gene: ENSMUSG00000042569
AA Change: Q106K

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
AA Change: Q91K

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000104358
Gene: ENSMUSG00000042569
AA Change: Q91K

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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dixdc1 C T 9: 50,613,317 (GRCm39) V212M probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fam163b C T 2: 27,003,570 (GRCm39) C28Y probably damaging Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Nexmif A T X: 103,131,497 (GRCm39) M140K probably damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Ubxn8 T C 8: 34,113,206 (GRCm39) K216R possibly damaging Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Dhrs7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Dhrs7b APN 11 60,721,541 (GRCm39) missense probably benign
PIT4581001:Dhrs7b UTSW 11 60,742,723 (GRCm39) missense possibly damaging 0.53
R0479:Dhrs7b UTSW 11 60,746,513 (GRCm39) splice site probably benign
R0606:Dhrs7b UTSW 11 60,721,572 (GRCm39) splice site probably benign
R1607:Dhrs7b UTSW 11 60,742,717 (GRCm39) missense probably benign 0.13
R1626:Dhrs7b UTSW 11 60,735,082 (GRCm39) missense possibly damaging 0.69
R2679:Dhrs7b UTSW 11 60,743,344 (GRCm39) splice site probably benign
R4928:Dhrs7b UTSW 11 60,742,751 (GRCm39) missense probably benign 0.07
R5977:Dhrs7b UTSW 11 60,743,328 (GRCm39) nonsense probably null
R7207:Dhrs7b UTSW 11 60,746,623 (GRCm39) nonsense probably null
R7270:Dhrs7b UTSW 11 60,735,055 (GRCm39) missense probably benign
R7861:Dhrs7b UTSW 11 60,746,568 (GRCm39) missense probably damaging 1.00
R7983:Dhrs7b UTSW 11 60,743,287 (GRCm39) missense possibly damaging 0.95
R8272:Dhrs7b UTSW 11 60,742,580 (GRCm39) missense probably benign
R9418:Dhrs7b UTSW 11 60,746,594 (GRCm39) missense probably damaging 0.98
R9609:Dhrs7b UTSW 11 60,735,121 (GRCm39) missense possibly damaging 0.49
Posted On 2014-05-07