Incidental Mutation 'IGL02425:Moxd1'
ID292866
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Moxd1
Ensembl Gene ENSMUSG00000020000
Gene Namemonooxygenase, DBH-like 1
Synonyms3230402N08Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02425
Quality Score
Status
Chromosome10
Chromosomal Location24223517-24302790 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 24279436 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 245 (N245S)
Ref Sequence ENSEMBL: ENSMUSP00000093460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095784]
Predicted Effect probably benign
Transcript: ENSMUST00000095784
AA Change: N245S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: N245S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
8430423G03Rik A G 5: 148,950,662 probably benign Het
Adam4 C T 12: 81,421,328 R173H probably benign Het
Akap12 A G 10: 4,356,034 E948G possibly damaging Het
Akr1c12 T C 13: 4,273,750 Y184C probably damaging Het
Avil T C 10: 127,018,447 V761A probably benign Het
Bahd1 T A 2: 118,919,164 F480L probably benign Het
Bicral T C 17: 46,808,454 T714A probably benign Het
Col4a3bp T C 13: 96,609,882 I263T probably damaging Het
Csgalnact1 C A 8: 68,401,492 G219V probably damaging Het
Cyp2d34 C T 15: 82,618,279 V219I probably benign Het
Dsn1 A G 2: 156,996,747 V316A probably damaging Het
Errfi1 T A 4: 150,866,356 F80L probably benign Het
Fam221b A G 4: 43,660,642 probably null Het
Fgd6 G A 10: 94,074,202 G790R probably benign Het
Fn1 T C 1: 71,641,143 probably benign Het
Gldn T A 9: 54,338,721 Y519N probably damaging Het
Il18r1 T C 1: 40,491,221 probably benign Het
Itpr2 A G 6: 146,391,321 V380A probably damaging Het
Kcnab1 T C 3: 65,302,179 Y154H possibly damaging Het
Lama1 T C 17: 67,811,485 V2564A probably benign Het
Lca5 T C 9: 83,399,721 T337A probably damaging Het
Lrp1 A G 10: 127,571,887 probably null Het
Napepld T C 5: 21,683,442 E3G probably benign Het
Nr1d2 T C 14: 18,222,011 T87A probably benign Het
Nudt4 T A 10: 95,549,383 T149S probably benign Het
Rad18 A T 6: 112,620,898 D219E probably damaging Het
Ryr2 T C 13: 11,745,674 I1508V probably damaging Het
Setx G A 2: 29,148,408 S1635N probably benign Het
Slc6a19 A G 13: 73,691,800 V121A probably benign Het
Snapc4 T C 2: 26,368,200 D736G probably damaging Het
Spink5 T C 18: 43,990,744 probably null Het
Strip1 T C 3: 107,614,646 I739V probably benign Het
Tmem161a T C 8: 70,176,927 probably null Het
Top1mt T C 15: 75,676,121 T39A probably benign Het
Trpm1 T C 7: 64,240,427 M926T probably damaging Het
Ttn T A 2: 76,757,280 K19744* probably null Het
Vmn2r26 A G 6: 124,061,818 E784G probably damaging Het
Wnk1 A G 6: 119,963,454 F774S probably damaging Het
Zfp317 T A 9: 19,643,613 Y101* probably null Het
Other mutations in Moxd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00091:Moxd1 APN 10 24279864 missense probably damaging 1.00
IGL00227:Moxd1 APN 10 24282593 missense probably damaging 1.00
IGL00331:Moxd1 APN 10 24282555 splice site probably benign
IGL01074:Moxd1 APN 10 24279384 missense probably benign 0.45
IGL01462:Moxd1 APN 10 24244388 critical splice donor site probably null
IGL01777:Moxd1 APN 10 24252596 missense probably benign 0.00
IGL02051:Moxd1 APN 10 24253018 splice site probably null
IGL02272:Moxd1 APN 10 24282700 nonsense probably null
IGL02343:Moxd1 APN 10 24279864 missense probably damaging 1.00
IGL02448:Moxd1 APN 10 24282719 missense probably damaging 0.99
IGL02452:Moxd1 APN 10 24282752 missense probably damaging 1.00
IGL03301:Moxd1 APN 10 24279484 missense probably damaging 0.99
R0631:Moxd1 UTSW 10 24252954 missense probably damaging 1.00
R1436:Moxd1 UTSW 10 24244358 missense probably damaging 1.00
R1484:Moxd1 UTSW 10 24223860 missense probably damaging 1.00
R1574:Moxd1 UTSW 10 24300319 missense probably damaging 1.00
R1574:Moxd1 UTSW 10 24300319 missense probably damaging 1.00
R1713:Moxd1 UTSW 10 24281496 missense probably damaging 1.00
R1954:Moxd1 UTSW 10 24279883 missense probably benign 0.17
R3115:Moxd1 UTSW 10 24301531 nonsense probably null
R3116:Moxd1 UTSW 10 24301531 nonsense probably null
R5183:Moxd1 UTSW 10 24279547 critical splice donor site probably null
R5183:Moxd1 UTSW 10 24287136 missense probably damaging 1.00
R5322:Moxd1 UTSW 10 24244253 missense possibly damaging 0.88
R5728:Moxd1 UTSW 10 24223683 missense possibly damaging 0.92
R5824:Moxd1 UTSW 10 24287097 missense probably damaging 1.00
R6158:Moxd1 UTSW 10 24284777 missense probably damaging 1.00
R6322:Moxd1 UTSW 10 24284811 missense probably damaging 1.00
R6662:Moxd1 UTSW 10 24284760 missense probably damaging 1.00
R6827:Moxd1 UTSW 10 24279850 missense probably benign 0.29
R6928:Moxd1 UTSW 10 24300288 missense probably damaging 1.00
R7048:Moxd1 UTSW 10 24281476 missense probably damaging 1.00
R7320:Moxd1 UTSW 10 24301465 missense probably benign 0.05
X0063:Moxd1 UTSW 10 24252500 missense probably benign 0.18
Posted On2015-04-16