Incidental Mutation 'R0688:Hsd3b9'
ID 61216
Institutional Source Beutler Lab
Gene Symbol Hsd3b9
Ensembl Gene ENSMUSG00000090817
Gene Name hydroxy-delta-5-steroid dehydrogenase, 3 beta- and steroid delta-isomerase 9
Synonyms Gm4450
MMRRC Submission 038873-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.076) question?
Stock # R0688 (G1)
Quality Score 82
Status Not validated
Chromosome 3
Chromosomal Location 98352991-98364442 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 98363710 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 45 (E45G)
Ref Sequence ENSEMBL: ENSMUSP00000139967 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000167753] [ENSMUST00000188356]
AlphaFold E9Q007
Predicted Effect probably benign
Transcript: ENSMUST00000167753
AA Change: E45G

PolyPhen 2 Score 0.117 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000127882
Gene: ENSMUSG00000090817
AA Change: E45G

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 4 260 2.4e-9 PFAM
Pfam:KR 5 133 4.7e-8 PFAM
Pfam:Polysacc_synt_2 6 135 1.2e-12 PFAM
Pfam:NmrA 6 147 2.8e-12 PFAM
Pfam:Epimerase 6 249 2.7e-24 PFAM
Pfam:GDP_Man_Dehyd 7 218 8.6e-13 PFAM
Pfam:3Beta_HSD 7 288 2.4e-106 PFAM
Pfam:NAD_binding_4 8 225 5.8e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000188356
AA Change: E45G

PolyPhen 2 Score 0.190 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000139967
Gene: ENSMUSG00000090817
AA Change: E45G

DomainStartEndE-ValueType
Pfam:RmlD_sub_bind 4 175 1.8e-6 PFAM
Pfam:adh_short 5 133 1.3e-8 PFAM
Pfam:KR 5 133 5.6e-8 PFAM
Pfam:Polysacc_synt_2 6 137 3.1e-11 PFAM
Pfam:NmrA 6 147 2.1e-10 PFAM
Pfam:NAD_binding_10 6 175 4e-12 PFAM
Pfam:Epimerase 6 191 1.6e-22 PFAM
Pfam:3Beta_HSD 7 191 1e-71 PFAM
Pfam:NAD_binding_4 8 191 4e-19 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000196741
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.8%
  • 10x: 97.4%
  • 20x: 95.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad11 T G 9: 104,001,299 (GRCm39) V615G probably damaging Het
Apaf1 T G 10: 90,897,567 (GRCm39) E305D possibly damaging Het
Apol10b A G 15: 77,469,419 (GRCm39) S253P probably damaging Het
Bbs9 T A 9: 22,479,015 (GRCm39) C153S probably damaging Het
Bicra C T 7: 15,723,247 (GRCm39) G90D probably damaging Het
Clca4a A C 3: 144,667,735 (GRCm39) L412R probably damaging Het
Cul3 A T 1: 80,249,281 (GRCm39) D597E possibly damaging Het
Cxcr5 A G 9: 44,424,964 (GRCm39) probably null Het
Dnah10 T C 5: 124,824,782 (GRCm39) I646T possibly damaging Het
Focad T A 4: 88,192,450 (GRCm39) V593D unknown Het
Fsip2 T A 2: 82,812,683 (GRCm39) S3001T probably benign Het
Ganab T A 19: 8,888,477 (GRCm39) Y511N probably damaging Het
Gdf9 T A 11: 53,327,467 (GRCm39) L141Q probably damaging Het
Gpr180 A G 14: 118,385,596 (GRCm39) D136G probably benign Het
Itga2 G T 13: 114,976,090 (GRCm39) A1094E probably benign Het
Ly75 C T 2: 60,146,565 (GRCm39) A1238T probably benign Het
Macc1 T C 12: 119,410,738 (GRCm39) V502A probably damaging Het
Mroh4 T C 15: 74,478,527 (GRCm39) K923E probably damaging Het
Msh3 G A 13: 92,487,939 (GRCm39) P93S possibly damaging Het
Myo18a A G 11: 77,714,966 (GRCm39) D474G probably damaging Het
Npat T A 9: 53,481,522 (GRCm39) Y1077N probably benign Het
Or4c109 A T 2: 88,817,939 (GRCm39) S202R probably damaging Het
Or6c69 T G 10: 129,747,752 (GRCm39) T132P probably damaging Het
Or6k14 A C 1: 173,927,630 (GRCm39) H202P probably damaging Het
Or8u8 A T 2: 86,011,949 (GRCm39) probably null Het
Paqr5 T G 9: 61,880,076 (GRCm39) T59P probably benign Het
Phyhipl C T 10: 70,395,085 (GRCm39) G329R probably damaging Het
Pomgnt1 T C 4: 116,013,086 (GRCm39) Y430H probably damaging Het
Pramel21 T C 4: 143,343,927 (GRCm39) F409S probably benign Het
Prkd3 A T 17: 79,264,662 (GRCm39) M651K probably damaging Het
Puf60 A T 15: 75,942,623 (GRCm39) M440K probably damaging Het
Recql4 A G 15: 76,594,009 (GRCm39) probably null Het
Sgk1 A C 10: 21,874,059 (GRCm39) M320L probably benign Het
Slc27a4 T C 2: 29,702,627 (GRCm39) F509S probably damaging Het
Sorbs1 T C 19: 40,351,706 (GRCm39) T235A probably damaging Het
Srrm3 A G 5: 135,898,130 (GRCm39) probably benign Het
Tex15 C T 8: 34,063,528 (GRCm39) T986I probably damaging Het
Ugcg C T 4: 59,207,798 (GRCm39) P46S probably benign Het
Zswim4 T C 8: 84,955,517 (GRCm39) M301V possibly damaging Het
Other mutations in Hsd3b9
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00469:Hsd3b9 APN 3 98,363,716 (GRCm39) missense probably benign
IGL02004:Hsd3b9 APN 3 98,363,735 (GRCm39) missense probably damaging 1.00
R1301:Hsd3b9 UTSW 3 98,354,182 (GRCm39) nonsense probably null
R2926:Hsd3b9 UTSW 3 98,357,872 (GRCm39) splice site probably benign
R4797:Hsd3b9 UTSW 3 98,363,747 (GRCm39) nonsense probably null
R4915:Hsd3b9 UTSW 3 98,357,845 (GRCm39) missense probably damaging 0.97
R5796:Hsd3b9 UTSW 3 98,354,168 (GRCm39) missense probably benign 0.00
R6479:Hsd3b9 UTSW 3 98,354,157 (GRCm39) missense possibly damaging 0.79
R7085:Hsd3b9 UTSW 3 98,357,710 (GRCm39) missense probably damaging 1.00
R8417:Hsd3b9 UTSW 3 98,363,731 (GRCm39) missense probably benign 0.08
R8821:Hsd3b9 UTSW 3 98,354,047 (GRCm39) missense probably benign 0.27
R8831:Hsd3b9 UTSW 3 98,354,047 (GRCm39) missense probably benign 0.27
R9182:Hsd3b9 UTSW 3 98,354,005 (GRCm39) missense possibly damaging 0.70
R9401:Hsd3b9 UTSW 3 98,363,819 (GRCm39) missense probably damaging 1.00
R9522:Hsd3b9 UTSW 3 98,353,783 (GRCm39) missense probably benign
Z1176:Hsd3b9 UTSW 3 98,363,771 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TCATGACCAATTGTGGGTGAGGC -3'
(R):5'- GGCACAGACTAATGCAGTACCTCAG -3'

Sequencing Primer
(F):5'- TGTGCTGTTCCAGTTGTGAA -3'
(R):5'- TCCCACAAGATTTGGGATCAG -3'
Posted On 2013-07-30