Incidental Mutation 'R9609:Dhrs7b'
ID 724103
Institutional Source Beutler Lab
Gene Symbol Dhrs7b
Ensembl Gene ENSMUSG00000042569
Gene Name dehydrogenase/reductase 7B
Synonyms dehydrogenase/reductase (SDR family) member 7B
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.808) question?
Stock # R9609 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 60721457-60749249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 60735121 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 51 (R51G)
Ref Sequence ENSEMBL: ENSMUSP00000044924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042281] [ENSMUST00000108718]
AlphaFold Q99J47
Predicted Effect possibly damaging
Transcript: ENSMUST00000042281
AA Change: R51G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044924
Gene: ENSMUSG00000042569
AA Change: R51G

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 possibly damaging
Transcript: ENSMUST00000108718
AA Change: R36G

PolyPhen 2 Score 0.485 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104358
Gene: ENSMUSG00000042569
AA Change: R36G

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 T C 11: 9,208,549 (GRCm39) S241P probably damaging Het
Adam23 A T 1: 63,576,102 (GRCm39) M295L probably benign Het
Ano8 T A 8: 71,933,726 (GRCm39) D522V unknown Het
Asgr2 T C 11: 69,988,667 (GRCm39) L120P probably damaging Het
Atp5mc2 A G 15: 102,573,580 (GRCm39) F79L probably damaging Het
Baiap2 C T 11: 119,847,958 (GRCm39) R29C probably damaging Het
Bicdl2 A G 17: 23,884,513 (GRCm39) E145G Het
Cad T C 5: 31,228,018 (GRCm39) probably null Het
Dnah3 A T 7: 119,670,236 (GRCm39) Y694N probably damaging Het
Dnaja4 G A 9: 54,616,644 (GRCm39) G216S probably null Het
Dync1h1 T C 12: 110,607,362 (GRCm39) V2651A probably benign Het
Fbxw28 T C 9: 109,167,515 (GRCm39) T81A probably benign Het
Fga A T 3: 82,940,064 (GRCm39) I573F probably damaging Het
Fgd6 T A 10: 93,879,674 (GRCm39) I176N probably damaging Het
Fhl5 A T 4: 25,214,653 (GRCm39) C41* probably null Het
Fibcd1 A G 2: 31,728,653 (GRCm39) V68A probably benign Het
Fign T C 2: 63,810,286 (GRCm39) D328G probably benign Het
Gtpbp10 A C 5: 5,607,396 (GRCm39) F15C probably damaging Het
Hmcn1 A T 1: 150,555,346 (GRCm39) V2475D probably damaging Het
Iglv3 A G 16: 19,060,221 (GRCm39) S36P probably damaging Het
Igsf10 G T 3: 59,226,869 (GRCm39) T2268N probably damaging Het
Krt75 A G 15: 101,474,677 (GRCm39) I473T probably benign Het
Lcn3 A G 2: 25,657,596 (GRCm39) E162G possibly damaging Het
Lnpk A G 2: 74,401,298 (GRCm39) V17A probably damaging Het
Malrd1 A G 2: 15,700,081 (GRCm39) S643G unknown Het
Mcm5 C T 8: 75,844,168 (GRCm39) S313F probably benign Het
Mlip T A 9: 77,045,797 (GRCm39) L894F possibly damaging Het
Muc4 A T 16: 32,577,234 (GRCm39) T175S Het
Nkpd1 A C 7: 19,257,462 (GRCm39) I414L possibly damaging Het
Nrxn2 C A 19: 6,540,203 (GRCm39) N834K probably damaging Het
Oacyl A G 18: 65,843,599 (GRCm39) T99A probably benign Het
Patj T G 4: 98,576,473 (GRCm39) F570L probably benign Het
Piwil4 T C 9: 14,614,443 (GRCm39) T107A Het
Ppp1r12b G A 1: 134,824,084 (GRCm39) Q180* probably null Het
Prpf4b A G 13: 35,068,032 (GRCm39) D287G unknown Het
Rab17 T C 1: 90,891,907 (GRCm39) Y39C probably damaging Het
Rbsn T A 6: 92,179,565 (GRCm39) I125F probably damaging Het
Rnf207 C A 4: 152,402,222 (GRCm39) G74C probably damaging Het
Rrs1 T C 1: 9,616,518 (GRCm39) L257P probably benign Het
Ryr2 T C 13: 11,683,848 (GRCm39) E3072G probably damaging Het
Scn8a A C 15: 100,834,407 (GRCm39) I68L possibly damaging Het
Slc14a1 C A 18: 78,152,807 (GRCm39) A367S probably damaging Het
Slc26a7 T A 4: 14,532,636 (GRCm39) I413F probably damaging Het
Slc4a11 T A 2: 130,530,035 (GRCm39) T248S possibly damaging Het
Spen A G 4: 141,215,419 (GRCm39) I471T unknown Het
Tbpl2 C T 2: 23,977,197 (GRCm39) D274N probably damaging Het
Timm23 A G 14: 31,902,543 (GRCm39) M200T probably benign Het
Tlr3 T C 8: 45,850,117 (GRCm39) I851V probably benign Het
Tnfrsf18 T A 4: 156,113,208 (GRCm39) V298E possibly damaging Het
Trav6-3 A G 14: 53,667,618 (GRCm39) N41S possibly damaging Het
Trim17 C A 11: 58,855,964 (GRCm39) A7D probably damaging Het
Ttbk1 T C 17: 46,758,148 (GRCm39) T829A probably damaging Het
Ugt3a1 A C 15: 9,361,905 (GRCm39) E227A probably damaging Het
Vmn1r218 C T 13: 23,320,839 (GRCm39) T62I probably benign Het
Vmn2r100 T C 17: 19,743,732 (GRCm39) L465P probably damaging Het
Vps13c A T 9: 67,841,831 (GRCm39) Q1951L probably damaging Het
Wdcp A G 12: 4,900,258 (GRCm39) D38G probably damaging Het
Xdh T A 17: 74,231,990 (GRCm39) Q240L possibly damaging Het
Zc3h4 T A 7: 16,150,751 (GRCm39) V23D unknown Het
Zkscan8 C A 13: 21,709,434 (GRCm39) V155F possibly damaging Het
Other mutations in Dhrs7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Dhrs7b APN 11 60,721,541 (GRCm39) missense probably benign
IGL02074:Dhrs7b APN 11 60,742,580 (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
Predicted Primers PCR Primer
(F):5'- GCTAATTTAGAGAAGGAGCTTTGGC -3'
(R):5'- AGAAGCAGCCTCTTCACTCG -3'

Sequencing Primer
(F):5'- GCTTTGGCTAATCCCCAGTTC -3'
(R):5'- TTCATTCTCACAGACTTGCTCACTG -3'
Posted On 2022-09-12