Incidental Mutation 'IGL00331:Mocs1'
ID5754
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Mocs1
Ensembl Gene ENSMUSG00000064120
Gene Namemolybdenum cofactor synthesis 1
Synonyms3110045D15Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00331
Quality Score
Status
Chromosome17
Chromosomal Location49428362-49455435 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 49435264 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000133694 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024797] [ENSMUST00000165390] [ENSMUST00000173033] [ENSMUST00000173362] [ENSMUST00000174647]
Predicted Effect probably null
Transcript: ENSMUST00000024797
SMART Domains Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120

DomainStartEndE-ValueType
Elp3 70 273 1.63e-8 SMART
Predicted Effect probably null
Transcript: ENSMUST00000165390
SMART Domains Protein: ENSMUSP00000132371
Gene: ENSMUSG00000064120

DomainStartEndE-ValueType
Pfam:Fer4_12 67 142 8.8e-9 PFAM
Pfam:Fer4_14 74 141 5.8e-8 PFAM
Pfam:Radical_SAM 74 143 2.2e-13 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000173033
SMART Domains Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120

DomainStartEndE-ValueType
Elp3 70 273 1.63e-8 SMART
Pfam:MoaC 493 628 6.1e-49 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000173362
SMART Domains Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120

DomainStartEndE-ValueType
Pfam:Fer4_12 67 197 5.8e-11 PFAM
Pfam:Radical_SAM 74 199 2.5e-22 PFAM
Pfam:Fer4_14 75 180 2.5e-9 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000174268
Predicted Effect probably benign
Transcript: ENSMUST00000174647
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aamp C A 1: 74,281,436 probably benign Het
Adamts19 T A 18: 59,007,325 probably benign Het
Afg3l1 T A 8: 123,487,389 F190I probably benign Het
Alms1 T A 6: 85,641,371 S2800T possibly damaging Het
Alox5 A T 6: 116,415,517 W348R probably damaging Het
Atp13a5 G A 16: 29,267,014 Q823* probably null Het
Atp6v1b2 T C 8: 69,088,934 probably null Het
Chuk T C 19: 44,088,023 I416M possibly damaging Het
Dmbt1 A T 7: 131,099,290 Q1066L possibly damaging Het
Dnah5 A G 15: 28,421,620 T3873A probably damaging Het
Endog C T 2: 30,172,900 T184M probably damaging Het
Fam166b G A 4: 43,428,158 R100W possibly damaging Het
Fcgbp T C 7: 28,101,541 probably benign Het
Flii A G 11: 60,715,833 I1061T probably benign Het
Hdac2 T A 10: 36,997,071 N308K probably damaging Het
Hoxa2 T G 6: 52,163,517 Y163S probably damaging Het
Hsd3b7 T C 7: 127,802,972 L263P probably damaging Het
Klf17 T C 4: 117,761,038 T41A probably benign Het
Lrrfip1 T C 1: 91,068,621 M42T probably damaging Het
Mapk8ip1 C T 2: 92,385,188 V614I probably benign Het
Moxd1 T C 10: 24,282,555 probably benign Het
Mterf1a T C 5: 3,891,610 E86G probably damaging Het
Muc4 A G 16: 32,753,185 D1021G probably benign Het
Nomo1 T C 7: 46,045,336 S212P possibly damaging Het
Olfr1471 A G 19: 13,445,624 D204G probably benign Het
Olfr893 T A 9: 38,209,238 Y60N probably damaging Het
Phf21a A C 2: 92,348,029 T385P probably damaging Het
Piwil4 A T 9: 14,715,031 probably benign Het
Pknox1 T C 17: 31,599,645 probably null Het
Prr14l T C 5: 32,831,066 I362V probably benign Het
Sergef C T 7: 46,635,420 probably null Het
Sez6l T C 5: 112,424,645 D948G probably damaging Het
Skor1 A T 9: 63,146,441 L54Q probably damaging Het
Sntn C T 14: 13,679,086 Q87* probably null Het
Syde2 A G 3: 146,014,341 K772E possibly damaging Het
Taf2 T A 15: 55,071,449 probably null Het
Tbc1d13 T A 2: 30,140,511 Y113N probably damaging Het
Tmem154 T C 3: 84,684,415 F91L probably benign Het
Tmem63a A G 1: 180,966,497 D533G possibly damaging Het
Tmprss15 A T 16: 78,985,994 N712K possibly damaging Het
Trip12 A T 1: 84,730,541 D603E probably damaging Het
Trmt11 T C 10: 30,566,449 D246G probably damaging Het
Vmn1r174 T A 7: 23,754,533 M208K possibly damaging Het
Wdr54 T C 6: 83,155,773 H33R probably benign Het
Zfp207 A G 11: 80,389,002 D111G probably benign Het
Other mutations in Mocs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00473:Mocs1 APN 17 49433201 missense probably benign 0.01
IGL01565:Mocs1 APN 17 49452320 missense probably benign 0.00
IGL02822:Mocs1 APN 17 49439569 missense probably damaging 1.00
R0321:Mocs1 UTSW 17 49433258 missense probably damaging 1.00
R1313:Mocs1 UTSW 17 49454269 missense probably benign 0.00
R1313:Mocs1 UTSW 17 49454269 missense probably benign 0.00
R2155:Mocs1 UTSW 17 49454358 missense probably damaging 1.00
R2271:Mocs1 UTSW 17 49449109 missense probably damaging 1.00
R2398:Mocs1 UTSW 17 49452834 missense probably damaging 0.99
R4669:Mocs1 UTSW 17 49454585 missense possibly damaging 0.67
R5566:Mocs1 UTSW 17 49454183 missense possibly damaging 0.92
R5751:Mocs1 UTSW 17 49449738 unclassified probably null
R6061:Mocs1 UTSW 17 49450313 missense probably damaging 1.00
R6157:Mocs1 UTSW 17 49454736 missense probably benign 0.06
R6212:Mocs1 UTSW 17 49435196 missense probably damaging 1.00
R6268:Mocs1 UTSW 17 49435155 missense probably damaging 1.00
R7047:Mocs1 UTSW 17 49452859 critical splice donor site probably null
R7270:Mocs1 UTSW 17 49449115 missense possibly damaging 0.83
R7395:Mocs1 UTSW 17 49454557 missense possibly damaging 0.56
R7522:Mocs1 UTSW 17 49435264 critical splice donor site probably null
Posted On2012-04-20