Incidental Mutation 'IGL02822:Mocs1'
ID361057
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 #IGL02822
Quality Score
Status
Chromosome17
Chromosomal Location49428362-49455435 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 49439569 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 189 (F189S)
Ref Sequence ENSEMBL: ENSMUSP00000134265 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000024797] [ENSMUST00000165390] [ENSMUST00000173033] [ENSMUST00000173362] [ENSMUST00000174647]
Predicted Effect possibly damaging
Transcript: ENSMUST00000024797
AA Change: F189S

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
AA Change: F189S

DomainStartEndE-ValueType
Elp3 70 273 1.63e-8 SMART
Predicted Effect probably benign
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 possibly damaging
Transcript: ENSMUST00000173033
AA Change: F189S

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: F189S

DomainStartEndE-ValueType
Elp3 70 273 1.63e-8 SMART
Pfam:MoaC 493 628 6.1e-49 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000173362
AA Change: F189S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120
AA Change: F189S

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: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110057P08Rik T C 16: 89,174,795 C2R unknown Het
4931428F04Rik T C 8: 105,284,698 Y268C probably damaging Het
Aldh1a7 A G 19: 20,702,266 V382A possibly damaging Het
Asap2 T C 12: 21,265,910 V943A probably damaging Het
Bod1l C T 5: 41,794,345 V2908M possibly damaging Het
Casd1 C T 6: 4,630,017 T471I probably damaging Het
Col20a1 T C 2: 180,996,807 Y405H probably damaging Het
Evi5l T C 8: 4,187,248 I117T probably damaging Het
Fbxw5 A G 2: 25,503,010 N164S probably benign Het
Fga A G 3: 83,031,482 E388G probably damaging Het
Fgfr1 A G 8: 25,557,802 T55A probably benign Het
Gdpd4 T C 7: 97,971,924 V148A possibly damaging Het
Gm15448 T A 7: 3,816,918 T549S possibly damaging Het
Gm609 T C 16: 45,442,605 Y57C probably damaging Het
Gsap T A 5: 21,217,444 V137D probably damaging Het
Hsdl2 A G 4: 59,601,379 H117R possibly damaging Het
Htr4 T A 18: 62,428,184 probably benign Het
Ifitm1 T C 7: 140,968,278 V8A possibly damaging Het
Ikbkap A G 4: 56,774,520 probably null Het
Kdelr1 A G 7: 45,873,864 probably benign Het
Klra6 G T 6: 130,016,710 Y199* probably null Het
Mmp21 C T 7: 133,676,099 D333N possibly damaging Het
Myo18b C T 5: 112,775,345 A1849T probably damaging Het
Naca C A 10: 128,039,345 probably benign Het
Nbea A T 3: 56,019,447 H778Q possibly damaging Het
Nlrp4c C T 7: 6,065,727 P209L probably damaging Het
Olfr125 T C 17: 37,835,643 Y215H possibly damaging Het
Olfr1254 A G 2: 89,789,100 L84P possibly damaging Het
Olfr1491 A G 19: 13,705,655 D276G probably benign Het
Osbpl9 A G 4: 109,072,921 S258P probably damaging Het
Pclaf A G 9: 65,901,593 E108G possibly damaging Het
Pla2r1 C A 2: 60,455,173 C699F probably damaging Het
Pnkp A G 7: 44,862,424 Y120C probably damaging Het
Psme4 T A 11: 30,848,204 probably benign Het
Rad54l2 A G 9: 106,710,407 S720P probably damaging Het
Rasa1 T C 13: 85,252,514 H301R probably damaging Het
Spg11 C A 2: 122,074,534 W1316L probably damaging Het
Ube2t C T 1: 134,973,950 probably benign Het
Vmn2r94 T A 17: 18,243,620 I803F probably benign Het
Other mutations in Mocs1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00331:Mocs1 APN 17 49435264 critical splice donor site probably null
IGL00473:Mocs1 APN 17 49433201 missense probably benign 0.01
IGL01565:Mocs1 APN 17 49452320 missense probably benign 0.00
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
R7872:Mocs1 UTSW 17 49439533 missense probably damaging 1.00
R7955:Mocs1 UTSW 17 49439533 missense probably damaging 1.00
Posted On2015-12-18