Incidental Mutation 'R7114:Mocos'
ID 551707
Institutional Source Beutler Lab
Gene Symbol Mocos
Ensembl Gene ENSMUSG00000039616
Gene Name molybdenum cofactor sulfurase
Synonyms 1110018O12Rik
MMRRC Submission 045244-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.172) question?
Stock # R7114 (G1)
Quality Score 225.009
Status Validated
Chromosome 18
Chromosomal Location 24786748-24834632 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 24799572 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 269 (P269S)
Ref Sequence ENSEMBL: ENSMUSP00000063609 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000068006]
AlphaFold Q14CH1
Predicted Effect probably damaging
Transcript: ENSMUST00000068006
AA Change: P269S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: P269S

DomainStartEndE-ValueType
Pfam:Aminotran_5 50 481 7.5e-29 PFAM
Pfam:MOSC_N 569 689 1.1e-32 PFAM
Pfam:MOSC 715 853 3.7e-21 PFAM
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.2%
Validation Efficiency 98% (59/60)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] MOCOS sulfurates the molybdenum cofactor of xanthine dehydrogenase (XDH; MIM 607633) and aldehyde oxidase (AOX1; MIM 602841), which is required for their enzymatic activities (Ichida et al., 2001 [PubMed 11302742]).[supplied by OMIM, Feb 2010]
Allele List at MGI

All alleles(11) : Targeted(1) Gene trapped(10)

Other mutations in this stock
Total: 57 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatk C T 11: 119,900,445 (GRCm39) A1291T probably benign Het
Anks1b G A 10: 90,143,560 (GRCm39) R523Q probably damaging Het
Arhgap12 T A 18: 6,028,056 (GRCm39) I690F probably damaging Het
Caln1 T C 5: 130,868,124 (GRCm39) V220A possibly damaging Het
Cd79b T A 11: 106,202,713 (GRCm39) T263S probably damaging Het
Cep290 A T 10: 100,379,220 (GRCm39) K67N probably damaging Het
Col19a1 T C 1: 24,377,017 (GRCm39) T443A possibly damaging Het
Col25a1 A G 3: 130,389,324 (GRCm39) I636V probably benign Het
Col9a3 C T 2: 180,245,590 (GRCm39) P154S unknown Het
Cyp3a11 T A 5: 145,795,593 (GRCm39) M453L probably benign Het
Disp1 C A 1: 182,869,030 (GRCm39) R1130L probably damaging Het
Eno1b T C 18: 48,180,560 (GRCm39) V246A possibly damaging Het
Eogt T C 6: 97,092,965 (GRCm39) Y404C probably damaging Het
Ephx3 T A 17: 32,404,006 (GRCm39) E380V possibly damaging Het
Fancl T C 11: 26,357,615 (GRCm39) L114P probably damaging Het
Flad1 C T 3: 89,314,837 (GRCm39) G287S probably benign Het
Gcm1 G T 9: 77,967,061 (GRCm39) K93N probably damaging Het
Golga3 T A 5: 110,350,578 (GRCm39) D704E probably benign Het
Grb14 A C 2: 64,747,197 (GRCm39) I451S probably damaging Het
Gtf3c3 T C 1: 54,462,666 (GRCm39) N366D probably benign Het
Hecw1 A T 13: 14,486,356 (GRCm39) H376Q probably benign Het
Helb A T 10: 119,941,161 (GRCm39) V509E probably benign Het
Hephl1 C T 9: 14,981,111 (GRCm39) E774K probably damaging Het
Hkdc1 T C 10: 62,229,622 (GRCm39) E685G probably damaging Het
Igfn1 T C 1: 135,894,519 (GRCm39) T2016A probably benign Het
Igkv5-43 T G 6: 69,800,515 (GRCm39) Q57H probably damaging Het
Lamc3 T A 2: 31,820,657 (GRCm39) V1224E probably damaging Het
Lgals3bp C T 11: 118,284,309 (GRCm39) W423* probably null Het
Mcm9 G A 10: 53,414,669 (GRCm39) T137I possibly damaging Het
Mdga1 C A 17: 30,061,816 (GRCm39) probably null Het
Naa40 A G 19: 7,207,322 (GRCm39) V134A probably damaging Het
Neb G A 2: 52,082,571 (GRCm39) L5680F probably damaging Het
Nedd9 A G 13: 41,492,099 (GRCm39) V137A probably benign Het
Nup133 T C 8: 124,642,112 (GRCm39) I784V probably benign Het
Nup214 T C 2: 31,915,256 (GRCm39) S1147P possibly damaging Het
Or10x4 A T 1: 174,218,805 (GRCm39) M57L probably damaging Het
Or8g28 G T 9: 39,169,897 (GRCm39) Q24K possibly damaging Het
Plcb4 T A 2: 135,824,043 (GRCm39) probably null Het
Pomt1 C T 2: 32,143,848 (GRCm39) T671I probably benign Het
Pomt2 G T 12: 87,157,150 (GRCm39) P723H probably damaging Het
Prpf8 T A 11: 75,394,181 (GRCm39) Y1741* probably null Het
Ptprs C G 17: 56,758,697 (GRCm39) V175L probably benign Het
Slc36a4 T C 9: 15,633,250 (GRCm39) F95L probably benign Het
Smn1 C T 13: 100,267,648 (GRCm39) P225S probably benign Het
Snrpa A T 7: 26,891,174 (GRCm39) I99N probably benign Het
Tgm5 G T 2: 120,878,977 (GRCm39) Y588* probably null Het
Tmeff2 T A 1: 51,224,404 (GRCm39) probably null Het
Tmem120b T C 5: 123,254,741 (GRCm39) F314S probably damaging Het
Trim43b C T 9: 88,967,661 (GRCm39) R325H probably benign Het
Vmn1r26 C T 6: 57,985,755 (GRCm39) A145T probably benign Het
Wdfy4 T C 14: 32,693,531 (GRCm39) probably null Het
Wnt5a C A 14: 28,244,713 (GRCm39) T320K probably damaging Het
Wrn AGCAGGTAATACATACCG AG 8: 33,775,149 (GRCm39) probably null Het
Zfp398 T C 6: 47,842,910 (GRCm39) S321P probably benign Het
Zfp959 T A 17: 56,205,501 (GRCm39) C513S possibly damaging Het
Zfr2 A G 10: 81,080,559 (GRCm39) D411G probably damaging Het
Zkscan5 T A 5: 145,147,988 (GRCm39) probably benign Het
Other mutations in Mocos
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00310:Mocos APN 18 24,793,101 (GRCm39) missense possibly damaging 0.88
IGL01859:Mocos APN 18 24,799,717 (GRCm39) splice site probably benign
IGL01884:Mocos APN 18 24,816,273 (GRCm39) missense probably damaging 1.00
IGL02174:Mocos APN 18 24,828,953 (GRCm39) missense probably benign 0.00
IGL02966:Mocos APN 18 24,809,668 (GRCm39) missense probably damaging 1.00
IGL02976:Mocos APN 18 24,799,626 (GRCm39) missense possibly damaging 0.92
buteo UTSW 18 24,799,467 (GRCm39) missense probably damaging 0.98
swainson UTSW 18 24,812,447 (GRCm39) missense probably damaging 1.00
P0008:Mocos UTSW 18 24,812,663 (GRCm39) missense probably benign 0.32
PIT4810001:Mocos UTSW 18 24,819,759 (GRCm39) missense probably damaging 1.00
R0131:Mocos UTSW 18 24,812,819 (GRCm39) missense probably benign 0.01
R0131:Mocos UTSW 18 24,812,819 (GRCm39) missense probably benign 0.01
R0132:Mocos UTSW 18 24,812,819 (GRCm39) missense probably benign 0.01
R0265:Mocos UTSW 18 24,799,333 (GRCm39) missense probably benign 0.01
R0737:Mocos UTSW 18 24,822,044 (GRCm39) missense probably damaging 0.98
R1231:Mocos UTSW 18 24,812,758 (GRCm39) missense probably benign 0.01
R1351:Mocos UTSW 18 24,793,107 (GRCm39) missense probably damaging 1.00
R1699:Mocos UTSW 18 24,816,273 (GRCm39) missense probably damaging 1.00
R1853:Mocos UTSW 18 24,829,026 (GRCm39) missense probably damaging 1.00
R2190:Mocos UTSW 18 24,797,114 (GRCm39) missense probably benign 0.01
R2350:Mocos UTSW 18 24,799,713 (GRCm39) splice site probably benign
R2680:Mocos UTSW 18 24,809,686 (GRCm39) missense probably damaging 1.00
R3840:Mocos UTSW 18 24,809,681 (GRCm39) missense probably damaging 1.00
R3841:Mocos UTSW 18 24,809,681 (GRCm39) missense probably damaging 1.00
R3847:Mocos UTSW 18 24,809,719 (GRCm39) missense probably damaging 0.99
R4059:Mocos UTSW 18 24,812,447 (GRCm39) missense probably damaging 1.00
R4158:Mocos UTSW 18 24,807,303 (GRCm39) missense probably damaging 0.99
R4205:Mocos UTSW 18 24,799,248 (GRCm39) missense possibly damaging 0.88
R4514:Mocos UTSW 18 24,816,269 (GRCm39) missense probably damaging 0.99
R4589:Mocos UTSW 18 24,787,095 (GRCm39) missense probably damaging 0.99
R4667:Mocos UTSW 18 24,799,491 (GRCm39) missense probably benign 0.11
R4668:Mocos UTSW 18 24,799,491 (GRCm39) missense probably benign 0.11
R5162:Mocos UTSW 18 24,787,109 (GRCm39) missense probably damaging 0.98
R5187:Mocos UTSW 18 24,825,611 (GRCm39) missense probably damaging 0.97
R5533:Mocos UTSW 18 24,807,357 (GRCm39) missense probably damaging 1.00
R5629:Mocos UTSW 18 24,797,142 (GRCm39) critical splice donor site probably null
R5661:Mocos UTSW 18 24,799,052 (GRCm39) splice site probably null
R5952:Mocos UTSW 18 24,834,444 (GRCm39) missense possibly damaging 0.91
R5987:Mocos UTSW 18 24,819,750 (GRCm39) missense probably damaging 1.00
R6173:Mocos UTSW 18 24,809,639 (GRCm39) missense probably benign 0.03
R6209:Mocos UTSW 18 24,799,672 (GRCm39) missense probably benign 0.41
R6376:Mocos UTSW 18 24,834,542 (GRCm39) missense possibly damaging 0.50
R6416:Mocos UTSW 18 24,834,513 (GRCm39) missense probably damaging 0.99
R6452:Mocos UTSW 18 24,828,998 (GRCm39) missense probably benign 0.02
R6520:Mocos UTSW 18 24,799,447 (GRCm39) missense probably benign 0.01
R6631:Mocos UTSW 18 24,832,988 (GRCm39) missense probably benign 0.03
R6669:Mocos UTSW 18 24,799,467 (GRCm39) missense probably damaging 0.98
R7366:Mocos UTSW 18 24,809,673 (GRCm39) missense probably damaging 1.00
R7690:Mocos UTSW 18 24,797,082 (GRCm39) missense probably damaging 1.00
R7955:Mocos UTSW 18 24,799,216 (GRCm39) missense probably damaging 1.00
R8458:Mocos UTSW 18 24,799,314 (GRCm39) missense probably benign 0.00
R8762:Mocos UTSW 18 24,812,554 (GRCm39) missense probably damaging 0.99
R9072:Mocos UTSW 18 24,797,089 (GRCm39) missense probably damaging 0.98
R9073:Mocos UTSW 18 24,797,089 (GRCm39) missense probably damaging 0.98
R9192:Mocos UTSW 18 24,812,594 (GRCm39) missense probably benign 0.00
R9781:Mocos UTSW 18 24,828,939 (GRCm39) missense probably benign 0.02
Z1176:Mocos UTSW 18 24,803,690 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- GCTCAGAGTAACTTTTCGGGC -3'
(R):5'- TTACAGGTCACACATGCCAG -3'

Sequencing Primer
(F):5'- GGCACCAGATACCCATTGTCATG -3'
(R):5'- ATGCCAGCCTGCCTTACTGAAG -3'
Posted On 2019-05-15