Incidental Mutation 'PIT4581001:Dhrs7b'
ID556518
Institutional Source Beutler Lab
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: 0.784) question?
Stock #PIT4581001 (G1)
Quality Score225.009
Status Not validated
Chromosome11
Chromosomal Location60830631-60860195 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 60851897 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Methionine at position 153 (I153M)
Ref Sequence ENSEMBL: ENSMUSP00000044924 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042281] [ENSMUST00000108718]
Predicted Effect possibly damaging
Transcript: ENSMUST00000042281
AA Change: I153M

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000044924
Gene: ENSMUSG00000042569
AA Change: I153M

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: I138M

PolyPhen 2 Score 0.530 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000104358
Gene: ENSMUSG00000042569
AA Change: I138M

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: 92.9%
  • 3x: 90.6%
  • 10x: 84.5%
  • 20x: 71.1%
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: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam15 T C 3: 89,343,832 H522R probably benign Het
Adcy8 A T 15: 64,754,817 I724N probably damaging Het
BC117090 T C 16: 36,322,932 I52V probably benign Het
Ctsj A T 13: 61,002,556 C210S probably damaging Het
Cyp2d12 A G 15: 82,558,451 E365G probably damaging Het
Dbi A T 1: 120,119,912 V85E probably damaging Het
Dock10 C A 1: 80,505,446 C2096F probably damaging Het
Eid3 T A 10: 82,867,755 I350K probably damaging Het
Fam83b A T 9: 76,491,152 F890I probably damaging Het
Fras1 G A 5: 96,555,301 D308N probably benign Het
Ftsj3 T C 11: 106,249,476 D822G unknown Het
Gabra5 T C 7: 57,488,857 T148A probably damaging Het
Gad1 A G 2: 70,599,667 D526G probably benign Het
Gm12184 A G 11: 48,826,144 I69T possibly damaging Het
Gm21698 T A 5: 25,987,352 T79S probably benign Het
Gon4l T G 3: 88,895,514 V1144G probably damaging Het
Ighv1-24 A T 12: 114,773,183 N32K probably benign Het
Islr T C 9: 58,157,201 N341S possibly damaging Het
Mybph A G 1: 134,194,741 T175A probably benign Het
Mycn T C 12: 12,940,243 K51E possibly damaging Het
Myh14 T C 7: 44,613,482 N1763D probably benign Het
Myrip T C 9: 120,467,517 S831P probably damaging Het
Neb G T 2: 52,288,802 A1314E probably damaging Het
Notch2 T C 3: 98,104,462 Y599H probably damaging Het
Npr1 C A 3: 90,462,257 G387V probably damaging Het
Olfr49 T A 14: 54,282,538 D119V probably damaging Het
Orai2 G A 5: 136,150,510 T223M probably damaging Het
Pcdhga5 A G 18: 37,696,857 E786G probably benign Het
Pde6b A G 5: 108,428,508 T749A probably benign Het
Pdzrn3 A G 6: 101,151,503 V734A probably benign Het
Pkd1l1 GCC GCCC 11: 8,916,298 probably null Het
Recql5 C A 11: 115,932,856 K21N possibly damaging Het
Rimbp3 G A 16: 17,210,716 S668N possibly damaging Het
Sdr42e1 A T 8: 117,663,518 I128N probably damaging Het
Shprh TAAAA T 10: 11,192,494 probably null Het
Slc15a2 A T 16: 36,772,043 C251S probably benign Het
Slc17a4 A T 13: 23,902,018 S329T probably damaging Het
Slc35a1 A G 4: 34,669,501 V246A possibly damaging Het
Slc37a2 A T 9: 37,237,405 S260R probably benign Het
Slco6d1 A T 1: 98,423,325 I177L possibly damaging Het
Tmcc1 A G 6: 116,043,456 V345A Het
Tmod2 T C 9: 75,597,301 Y12C probably damaging Het
Top2a A T 11: 99,002,964 W1035R probably damaging Het
Trpc1 A G 9: 95,736,921 S126P probably benign Het
Ttn A G 2: 76,733,961 S28576P probably damaging Het
Vmn1r16 A T 6: 57,322,873 W255R probably benign Het
Vmn2r5 T A 3: 64,503,927 K407* probably null Het
Vps13b G T 15: 35,534,263 W908C probably damaging Het
Ykt6 A G 11: 5,962,747 K150E possibly damaging Het
Zbtb2 A G 10: 4,369,265 Y254H possibly damaging Het
Zfp217 A G 2: 170,114,583 S832P probably benign Het
Zfp595 A G 13: 67,317,885 S108P probably benign Het
Zfp786 A T 6: 47,819,822 F727L probably damaging Het
Zzef1 G A 11: 72,899,672 V2151I probably benign Het
Other mutations in Dhrs7b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01995:Dhrs7b APN 11 60830715 missense probably benign
IGL02074:Dhrs7b APN 11 60851754 missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGGCTGTCATTCATAAGGTGC -3'
(R):5'- GTGATGTGAGGGCCCAAAAC -3'

Sequencing Primer
(F):5'- CTGTCATTCATAAGGTGCATTTTG -3'
(R):5'- TGTGAGGGCCCAAAACAGATAC -3'
Posted On2019-06-07