Incidental Mutation 'IGL00227:Moxd1'
ID 2257
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Moxd1
Ensembl Gene ENSMUSG00000020000
Gene Name monooxygenase, DBH-like 1
Synonyms 3230402N08Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00227
Quality Score
Status
Chromosome 10
Chromosomal Location 24099415-24178681 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24158491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Tyrosine at position 382 (H382Y)
Ref Sequence ENSEMBL: ENSMUSP00000093460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095784]
AlphaFold Q9CXI3
Predicted Effect probably damaging
Transcript: ENSMUST00000095784
AA Change: H382Y

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: H382Y

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
DoH 59 148 7.89e-15 SMART
Pfam:Cu2_monooxygen 186 315 2.7e-50 PFAM
Pfam:Cu2_monoox_C 334 491 2.1e-48 PFAM
low complexity region 602 613 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcg8 C A 17: 84,995,957 (GRCm39) probably null Het
Alms1 A G 6: 85,654,946 (GRCm39) E2695G probably damaging Het
B3galnt2 A G 13: 14,162,016 (GRCm39) N246D probably benign Het
Ces1h A T 8: 94,079,098 (GRCm39) M495K unknown Het
Chga A G 12: 102,529,058 (GRCm39) E345G probably damaging Het
Chrnb3 T C 8: 27,875,129 (GRCm39) F43L probably benign Het
Ctu1 C A 7: 43,324,928 (GRCm39) F122L possibly damaging Het
Cwf19l2 C A 9: 3,409,990 (GRCm39) Q40K probably benign Het
Dlg2 T C 7: 91,614,853 (GRCm39) I264T probably damaging Het
Dnah1 C T 14: 31,008,853 (GRCm39) V1974M probably damaging Het
Foxf2 C A 13: 31,810,172 (GRCm39) P37Q unknown Het
Gtf2e2 T C 8: 34,266,473 (GRCm39) probably benign Het
Hectd3 C A 4: 116,857,785 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,786 (GRCm39) probably benign Het
Hectd3 T C 4: 116,857,784 (GRCm39) probably benign Het
Ift122 A T 6: 115,894,018 (GRCm39) H901L probably benign Het
Itih1 C T 14: 30,664,846 (GRCm39) probably null Het
Krt84 C A 15: 101,436,208 (GRCm39) M460I probably benign Het
Npy6r A T 18: 44,409,511 (GRCm39) T311S probably damaging Het
Or1p1 C T 11: 74,179,952 (GRCm39) T160I probably damaging Het
Or52n3 C T 7: 104,530,724 (GRCm39) T270I probably benign Het
Pbk T C 14: 66,051,340 (GRCm39) I126T probably damaging Het
Pde1b C T 15: 103,435,107 (GRCm39) S400F probably damaging Het
Plxna2 T A 1: 194,326,965 (GRCm39) C300S probably damaging Het
Pnpla6 C T 8: 3,573,808 (GRCm39) R419W probably damaging Het
Ppp4r3a A G 12: 101,016,053 (GRCm39) L33P probably damaging Het
Ralb T A 1: 119,403,770 (GRCm39) D119V probably benign Het
Relb A C 7: 19,356,849 (GRCm39) probably null Het
Rims1 T A 1: 22,507,323 (GRCm39) D609V probably damaging Het
Scnn1a A G 6: 125,315,342 (GRCm39) T377A probably benign Het
Slc13a2 T C 11: 78,291,374 (GRCm39) T367A probably damaging Het
Sort1 T C 3: 108,263,623 (GRCm39) L807P probably damaging Het
Sptbn1 C A 11: 30,060,818 (GRCm39) E2051* probably null Het
St6galnac1 T C 11: 116,658,532 (GRCm39) I311V probably damaging Het
Other mutations in Moxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Moxd1 APN 10 24,155,762 (GRCm39) missense probably damaging 1.00
IGL00331:Moxd1 APN 10 24,158,453 (GRCm39) splice site probably benign
IGL01074:Moxd1 APN 10 24,155,282 (GRCm39) missense probably benign 0.45
IGL01462:Moxd1 APN 10 24,120,286 (GRCm39) critical splice donor site probably null
IGL01777:Moxd1 APN 10 24,128,494 (GRCm39) missense probably benign 0.00
IGL02051:Moxd1 APN 10 24,128,916 (GRCm39) splice site probably null
IGL02272:Moxd1 APN 10 24,158,598 (GRCm39) nonsense probably null
IGL02343:Moxd1 APN 10 24,155,762 (GRCm39) missense probably damaging 1.00
IGL02425:Moxd1 APN 10 24,155,334 (GRCm39) missense probably benign 0.01
IGL02448:Moxd1 APN 10 24,158,617 (GRCm39) missense probably damaging 0.99
IGL02452:Moxd1 APN 10 24,158,650 (GRCm39) missense probably damaging 1.00
IGL03301:Moxd1 APN 10 24,155,382 (GRCm39) missense probably damaging 0.99
R0631:Moxd1 UTSW 10 24,128,852 (GRCm39) missense probably damaging 1.00
R1436:Moxd1 UTSW 10 24,120,256 (GRCm39) missense probably damaging 1.00
R1484:Moxd1 UTSW 10 24,099,758 (GRCm39) missense probably damaging 1.00
R1574:Moxd1 UTSW 10 24,176,217 (GRCm39) missense probably damaging 1.00
R1574:Moxd1 UTSW 10 24,176,217 (GRCm39) missense probably damaging 1.00
R1713:Moxd1 UTSW 10 24,157,394 (GRCm39) missense probably damaging 1.00
R1954:Moxd1 UTSW 10 24,155,781 (GRCm39) missense probably benign 0.17
R3115:Moxd1 UTSW 10 24,177,429 (GRCm39) nonsense probably null
R3116:Moxd1 UTSW 10 24,177,429 (GRCm39) nonsense probably null
R5183:Moxd1 UTSW 10 24,163,034 (GRCm39) missense probably damaging 1.00
R5183:Moxd1 UTSW 10 24,155,445 (GRCm39) critical splice donor site probably null
R5322:Moxd1 UTSW 10 24,120,151 (GRCm39) missense possibly damaging 0.88
R5728:Moxd1 UTSW 10 24,099,581 (GRCm39) missense possibly damaging 0.92
R5824:Moxd1 UTSW 10 24,162,995 (GRCm39) missense probably damaging 1.00
R6158:Moxd1 UTSW 10 24,160,675 (GRCm39) missense probably damaging 1.00
R6322:Moxd1 UTSW 10 24,160,709 (GRCm39) missense probably damaging 1.00
R6662:Moxd1 UTSW 10 24,160,658 (GRCm39) missense probably damaging 1.00
R6827:Moxd1 UTSW 10 24,155,748 (GRCm39) missense probably benign 0.29
R6928:Moxd1 UTSW 10 24,176,186 (GRCm39) missense probably damaging 1.00
R7048:Moxd1 UTSW 10 24,157,374 (GRCm39) missense probably damaging 1.00
R7320:Moxd1 UTSW 10 24,177,363 (GRCm39) missense probably benign 0.05
R7736:Moxd1 UTSW 10 24,158,608 (GRCm39) missense probably damaging 1.00
R8060:Moxd1 UTSW 10 24,177,510 (GRCm39) missense unknown
R8073:Moxd1 UTSW 10 24,128,848 (GRCm39) missense probably damaging 1.00
R8089:Moxd1 UTSW 10 24,157,417 (GRCm39) missense probably benign 0.43
R8255:Moxd1 UTSW 10 24,099,700 (GRCm39) missense probably benign 0.02
R8314:Moxd1 UTSW 10 24,128,438 (GRCm39) missense possibly damaging 0.81
R9039:Moxd1 UTSW 10 24,155,251 (GRCm39) splice site probably benign
R9099:Moxd1 UTSW 10 24,155,762 (GRCm39) missense probably damaging 1.00
R9306:Moxd1 UTSW 10 24,128,824 (GRCm39) splice site probably benign
R9657:Moxd1 UTSW 10 24,128,485 (GRCm39) missense probably benign 0.16
X0063:Moxd1 UTSW 10 24,128,398 (GRCm39) missense probably benign 0.18
Z1177:Moxd1 UTSW 10 24,160,702 (GRCm39) missense probably benign
Posted On 2011-12-09