Incidental Mutation 'IGL01411:Mocs3'
ID 80044
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mocs3
Ensembl Gene ENSMUSG00000074576
Gene Name molybdenum cofactor synthesis 3
Synonyms Uba4, 1700020H17Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.928) question?
Stock # IGL01411
Quality Score
Status
Chromosome 2
Chromosomal Location 168072542-168074223 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 168073297 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 248 (V248A)
Ref Sequence ENSEMBL: ENSMUSP00000096670 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000099071] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]
AlphaFold A2BDX3
Predicted Effect probably damaging
Transcript: ENSMUST00000099071
AA Change: V248A

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000096670
Gene: ENSMUSG00000074576
AA Change: V248A

DomainStartEndE-ValueType
coiled coil region 5 34 N/A INTRINSIC
Pfam:ThiF 63 303 6e-66 PFAM
RHOD 337 455 7.43e-12 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000099072
SMART Domains Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 16 118 1.8e-11 PFAM
Pfam:Glyco_tranf_2_2 20 119 1.3e-8 PFAM
Pfam:Glycos_transf_2 20 119 6.3e-28 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000109193
SMART Domains Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_2 2 101 1.2e-8 PFAM
Pfam:Glycos_transf_2 2 147 7.8e-36 PFAM
Pfam:Glyco_tranf_2_3 2 187 1.2e-11 PFAM
Pfam:Glyco_transf_21 34 148 1.1e-7 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000138667
SMART Domains Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 24 240 1.1e-13 PFAM
Pfam:Glyco_tranf_2_2 28 153 8.4e-10 PFAM
Pfam:Glycos_transf_2 28 199 3.8e-40 PFAM
Pfam:Glyco_transf_21 87 200 1.5e-7 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142482
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150437
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156800
Predicted Effect probably benign
Transcript: ENSMUST00000154111
SMART Domains Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919

DomainStartEndE-ValueType
Pfam:Glyco_tranf_2_3 24 241 3.2e-13 PFAM
Pfam:Glyco_tranf_2_2 28 153 7.6e-10 PFAM
Pfam:Glycos_transf_2 28 199 8.1e-41 PFAM
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A1cf G A 19: 31,888,629 (GRCm39) E36K possibly damaging Het
Alox8 A T 11: 69,079,516 (GRCm39) S257R probably benign Het
Apc2 T C 10: 80,150,912 (GRCm39) S1960P probably damaging Het
Arhgap35 T C 7: 16,298,192 (GRCm39) N291S probably benign Het
AW551984 A T 9: 39,505,087 (GRCm39) D468E possibly damaging Het
B3gnt6 A C 7: 97,843,730 (GRCm39) F77V probably damaging Het
C1qtnf7 A T 5: 43,766,403 (GRCm39) M1L probably benign Het
Calm3 T C 7: 16,651,409 (GRCm39) T63A probably benign Het
Ccdc33 G A 9: 58,024,919 (GRCm39) probably benign Het
Cdh4 C T 2: 179,422,196 (GRCm39) R107C probably damaging Het
Cdr2l A G 11: 115,273,192 (GRCm39) E15G probably damaging Het
Chil6 A G 3: 106,296,141 (GRCm39) W365R probably damaging Het
Ckap5 G T 2: 91,431,356 (GRCm39) R1525L probably benign Het
Col6a6 T A 9: 105,663,157 (GRCm39) K127* probably null Het
Dclre1b A G 3: 103,710,639 (GRCm39) V298A probably damaging Het
Fat1 T A 8: 45,479,837 (GRCm39) V2961E probably damaging Het
Fhit T C 14: 9,573,483 (GRCm38) D126G probably benign Het
Gpc1 T C 1: 92,784,736 (GRCm39) F303S probably damaging Het
Hsd17b4 T A 18: 50,324,881 (GRCm39) V698D probably damaging Het
Itpr2 C T 6: 146,277,560 (GRCm39) probably null Het
Klhl4 A T X: 113,432,091 (GRCm39) D168V probably damaging Het
Krt42 A G 11: 100,154,167 (GRCm39) L405P possibly damaging Het
Lrp1 A T 10: 127,417,634 (GRCm39) C85* probably null Het
Lrp2 A G 2: 69,312,611 (GRCm39) L2559P probably damaging Het
Maob T G X: 16,578,808 (GRCm39) R448S possibly damaging Het
Mast3 A G 8: 71,232,227 (GRCm39) V1250A possibly damaging Het
Mfsd4b5 C T 10: 39,846,723 (GRCm39) V286M probably damaging Het
Mlip A G 9: 77,146,699 (GRCm39) I198T possibly damaging Het
Nxf2 T A X: 133,852,861 (GRCm39) R367S probably benign Het
Or10j3b T G 1: 173,043,695 (GRCm39) V159G probably benign Het
Or52z12 T C 7: 103,233,324 (GRCm39) W32R probably damaging Het
Parva T C 7: 112,176,217 (GRCm39) probably benign Het
Pot1a A T 6: 25,750,143 (GRCm39) probably benign Het
Ptpra T C 2: 130,386,359 (GRCm39) I603T probably damaging Het
Rad9a T C 19: 4,251,336 (GRCm39) K33E probably benign Het
Rimbp3 A G 16: 17,028,958 (GRCm39) D794G probably damaging Het
Septin5 G A 16: 18,443,680 (GRCm39) R90C probably damaging Het
Skint8 T A 4: 111,794,103 (GRCm39) N164K probably damaging Het
Slc30a3 T G 5: 31,247,424 (GRCm39) I73L probably benign Het
Stab2 A T 10: 86,815,872 (GRCm39) probably benign Het
Tnc C T 4: 63,918,959 (GRCm39) V1155M probably damaging Het
Ttc13 T G 8: 125,410,024 (GRCm39) Q525P probably damaging Het
Ttn T C 2: 76,550,479 (GRCm39) E31601G probably damaging Het
Unc5a A T 13: 55,150,741 (GRCm39) D577V probably damaging Het
Usp18 G A 6: 121,238,380 (GRCm39) V176M probably benign Het
Vmn1r184 T C 7: 25,966,320 (GRCm39) V22A probably benign Het
Vmn1r33 T A 6: 66,588,865 (GRCm39) I230F probably damaging Het
Vmn1r51 A G 6: 90,106,386 (GRCm39) I101V probably benign Het
Vmn2r108 T A 17: 20,691,282 (GRCm39) M414L probably benign Het
Vmn2r87 A C 10: 130,308,429 (GRCm39) V603G probably benign Het
Wt1 A G 2: 104,963,319 (GRCm39) Y16C probably damaging Het
Wwp2 C T 8: 108,232,977 (GRCm39) T159I probably benign Het
Xirp2 T C 2: 67,344,427 (GRCm39) F2223L probably benign Het
Zan T A 5: 137,387,155 (GRCm39) H4966L unknown Het
Other mutations in Mocs3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00340:Mocs3 APN 2 168,073,411 (GRCm39) missense possibly damaging 0.94
R0052:Mocs3 UTSW 2 168,073,602 (GRCm39) missense probably benign 0.03
R0100:Mocs3 UTSW 2 168,073,110 (GRCm39) missense probably damaging 1.00
R0367:Mocs3 UTSW 2 168,073,602 (GRCm39) missense probably benign 0.03
R0368:Mocs3 UTSW 2 168,073,602 (GRCm39) missense probably benign 0.03
R1183:Mocs3 UTSW 2 168,073,573 (GRCm39) missense possibly damaging 0.92
R1651:Mocs3 UTSW 2 168,073,489 (GRCm39) missense probably damaging 0.98
R8100:Mocs3 UTSW 2 168,073,257 (GRCm39) missense possibly damaging 0.63
R8101:Mocs3 UTSW 2 168,073,801 (GRCm39) missense probably damaging 1.00
Posted On 2013-11-05