Incidental Mutation 'IGL03385:Moxd2'
ID420843
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Moxd2
Ensembl Gene ENSMUSG00000029885
Gene Namemonooxygenase, DBH-like 2
SynonymsDbhl1
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.091) question?
Stock #IGL03385
Quality Score
Status
Chromosome6
Chromosomal Location40878794-40887494 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 40879018 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 546 (T546A)
Ref Sequence ENSEMBL: ENSMUSP00000031937 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031937]
Predicted Effect probably damaging
Transcript: ENSMUST00000031937
AA Change: T546A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: T546A

DomainStartEndE-ValueType
signal peptide 1 21 N/A INTRINSIC
DoH 66 156 1.43e-12 SMART
Pfam:Cu2_monooxygen 192 316 8.3e-39 PFAM
Pfam:Cu2_monoox_C 336 493 1.8e-37 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Bbs9 A G 9: 22,643,748 T444A probably benign Het
Cdh7 A G 1: 110,065,786 T324A possibly damaging Het
Col14a1 C A 15: 55,410,204 T723K unknown Het
Col14a1 G A 15: 55,471,708 G1513S unknown Het
Col1a2 C A 6: 4,539,612 N1293K unknown Het
Ctdp1 T C 18: 80,449,918 D454G probably damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 A G 5: 92,068,395 V94A probably damaging Het
Gm973 A G 1: 59,582,470 S590G probably benign Het
Gon4l A T 3: 88,907,543 T1940S probably benign Het
Itk G A 11: 46,331,861 Q594* probably null Het
Kcnc2 G A 10: 112,455,786 C293Y probably damaging Het
Krit1 A G 5: 3,807,452 I86V possibly damaging Het
Lyst T A 13: 13,656,980 L1663* probably null Het
Myo7b G T 18: 31,989,577 Q717K probably benign Het
Olfr1368 A G 13: 21,142,487 V190A probably benign Het
Olfr435 T C 6: 43,201,980 V112A probably benign Het
Ostm1 A C 10: 42,698,144 N123H probably damaging Het
Pcdh10 A C 3: 45,381,512 S754R possibly damaging Het
Pomt2 A T 12: 87,116,556 L613Q probably damaging Het
Samd9l T A 6: 3,376,208 N351I probably damaging Het
Serpinb9 T C 13: 33,007,996 probably benign Het
Slc12a4 T A 8: 105,950,864 probably benign Het
Smgc T A 15: 91,841,978 H42Q possibly damaging Het
Tor1a A G 2: 30,963,727 V197A possibly damaging Het
Ttc4 A G 4: 106,668,200 S246P probably benign Het
Tti1 G A 2: 157,993,025 A1005V possibly damaging Het
Ugt3a2 A T 15: 9,338,738 I63F probably damaging Het
Other mutations in Moxd2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00885:Moxd2 APN 6 40884179 splice site probably benign
IGL02113:Moxd2 APN 6 40885404 missense probably benign 0.06
IGL02223:Moxd2 APN 6 40885033 missense probably damaging 1.00
IGL03204:Moxd2 APN 6 40887305 missense probably benign 0.04
R0084:Moxd2 UTSW 6 40879408 missense probably null 0.01
R1213:Moxd2 UTSW 6 40891897 unclassified probably benign
R1326:Moxd2 UTSW 6 40880354 missense probably benign 0.00
R1652:Moxd2 UTSW 6 40887403 missense probably damaging 1.00
R1940:Moxd2 UTSW 6 40883532 missense probably damaging 1.00
R2040:Moxd2 UTSW 6 40884953 splice site probably null
R2088:Moxd2 UTSW 6 40884967 missense probably damaging 1.00
R3018:Moxd2 UTSW 6 40878886 missense probably benign 0.01
R3962:Moxd2 UTSW 6 40885397 missense probably benign
R4248:Moxd2 UTSW 6 40878999 missense probably damaging 1.00
R4438:Moxd2 UTSW 6 40884062 missense probably damaging 1.00
R4715:Moxd2 UTSW 6 40887247 missense probably damaging 1.00
R4732:Moxd2 UTSW 6 40878859 missense probably benign
R4733:Moxd2 UTSW 6 40878859 missense probably benign
R4760:Moxd2 UTSW 6 40891603 missense probably benign 0.06
R4851:Moxd2 UTSW 6 40878822 missense probably damaging 1.00
R5087:Moxd2 UTSW 6 40879336 missense probably damaging 1.00
R5187:Moxd2 UTSW 6 40879337 missense probably benign 0.18
R5339:Moxd2 UTSW 6 40885420 missense probably damaging 1.00
R5452:Moxd2 UTSW 6 40882114 splice site probably null
R5860:Moxd2 UTSW 6 40880407 missense probably damaging 1.00
R5973:Moxd2 UTSW 6 40878810 missense probably damaging 0.96
R6015:Moxd2 UTSW 6 40883754 missense probably damaging 1.00
R6316:Moxd2 UTSW 6 40883547 missense probably damaging 1.00
X0052:Moxd2 UTSW 6 40882528 missense probably benign
Posted On2016-08-02