Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02976:Mocos'

406380

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Is this an essential gene?

Probably non essential (E-score: 0.238) question?

Stock #

IGL02976

Quality Score

Status

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24666569 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 287 (K287E)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000068006]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068006
AA Change: K287E

PolyPhen 2 Score 0.919 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: K287E

Domain	Start	End	E-Value	Type
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

Validation Efficiency

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: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700019N19Rik	A	T	19: 58,789,120	V78E	probably benign	Het
9630041A04Rik	A	G	9: 101,939,646	T84A	possibly damaging	Het
Adgrd1	T	A	5: 129,131,597	S288T	probably benign	Het
Ano7	T	A	1: 93,402,673	D806E	possibly damaging	Het
Arl6	A	G	16: 59,623,896	L79P	probably damaging	Het
Card6	A	T	15: 5,099,828	C695*	probably null	Het
Carmil1	T	C	13: 24,092,551	N610S	possibly damaging	Het
Cdc40	A	G	10: 40,882,921	V52A	probably benign	Het
Chd4	G	A	6: 125,121,368	R369H	probably damaging	Het
Clasp2	C	T	9: 113,906,136	P1031L	probably damaging	Het
Cldn34d	C	T	X: 76,583,084	A121T	probably benign	Het
Clmp	A	C	9: 40,781,224	Y263S	possibly damaging	Het
Cntn5	A	G	9: 10,419,099		probably benign	Het
Folh1	A	T	7: 86,762,918	M215K	probably benign	Het
Fut1	C	T	7: 45,619,320	R233C	probably damaging	Het
Gcdh	A	C	8: 84,888,578	Y398D	probably damaging	Het
Gm26741	T	G	10: 52,358,814	S16R	possibly damaging	Het
Jph3	T	A	8: 121,753,084	L167Q	probably damaging	Het
Jup	A	G	11: 100,378,366	V407A	probably benign	Het
Kif17	C	T	4: 138,269,063	A117V	probably damaging	Het
Lyl1	C	T	8: 84,702,671	P3L	possibly damaging	Het
Magi2	C	T	5: 20,534,475	P349S	probably damaging	Het
Mlycd	T	C	8: 119,401,485	M177T	possibly damaging	Het
Morc2b	T	A	17: 33,137,523	H425L	possibly damaging	Het
Mrpl9	T	A	3: 94,447,777		probably benign	Het
Myo3a	G	A	2: 22,542,452	W825*	probably null	Het
Npas2	T	C	1: 39,287,484	S17P	probably damaging	Het
Nrk	A	G	X: 138,992,068	I1174V	probably benign	Het
Olfr1423	A	T	19: 12,035,973	Y256*	probably null	Het
Olfr392	A	G	11: 73,814,317	I255T	probably damaging	Het
Olfr730	G	A	14: 50,186,432	Q262*	probably null	Het
Parpbp	A	G	10: 88,111,594		probably null	Het
Pcdh10	T	C	3: 45,380,013	V254A	possibly damaging	Het
Plod1	C	T	4: 147,913,321	V644I	probably damaging	Het
Ptpn1	T	C	2: 167,971,784	V149A	probably benign	Het
Rassf4	T	C	6: 116,638,248	E320G	probably damaging	Het
Rgl2	T	A	17: 33,933,962	D448E	possibly damaging	Het
Rnf32	C	T	5: 29,206,712		probably null	Het
Rpa1	T	A	11: 75,312,802	D358V	probably damaging	Het
Sdk2	T	C	11: 113,851,842	N747S	probably damaging	Het
Slc17a4	A	C	13: 23,905,424	M170R	probably damaging	Het
Slc5a4a	G	A	10: 76,170,693	V310M	possibly damaging	Het
Spag9	G	A	11: 94,083,953	R463H	probably benign	Het
Stxbp2	A	T	8: 3,641,971	I538F	probably benign	Het
Syt10	A	G	15: 89,814,479	S221P	probably benign	Het
Tlk1	T	A	2: 70,721,591	K579*	probably null	Het
Tubgcp3	T	C	8: 12,632,300	Y673C	probably damaging	Het
Vmn1r223	T	C	13: 23,249,995	F253S	probably damaging	Het
Vmn2r83	T	C	10: 79,468,998	M14T	probably benign	Het
Zfp59	A	G	7: 27,853,396	D91G	probably benign	Het

Other mutations in Mocos

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Mocos	APN	18	24660044	missense	possibly damaging	0.88
IGL01859:Mocos	APN	18	24666660	splice site	probably benign
IGL01884:Mocos	APN	18	24683216	missense	probably damaging	1.00
IGL02174:Mocos	APN	18	24695896	missense	probably benign	0.00
IGL02966:Mocos	APN	18	24676611	missense	probably damaging	1.00
P0008:Mocos	UTSW	18	24679606	missense	probably benign	0.32
PIT4810001:Mocos	UTSW	18	24686702	missense	probably damaging	1.00
R0131:Mocos	UTSW	18	24679762	missense	probably benign	0.01
R0131:Mocos	UTSW	18	24679762	missense	probably benign	0.01
R0132:Mocos	UTSW	18	24679762	missense	probably benign	0.01
R0265:Mocos	UTSW	18	24666276	missense	probably benign	0.01
R0737:Mocos	UTSW	18	24688987	missense	probably damaging	0.98
R1231:Mocos	UTSW	18	24679701	missense	probably benign	0.01
R1351:Mocos	UTSW	18	24660050	missense	probably damaging	1.00
R1699:Mocos	UTSW	18	24683216	missense	probably damaging	1.00
R1853:Mocos	UTSW	18	24695969	missense	probably damaging	1.00
R2190:Mocos	UTSW	18	24664057	missense	probably benign	0.01
R2350:Mocos	UTSW	18	24666656	splice site	probably benign
R2680:Mocos	UTSW	18	24676629	missense	probably damaging	1.00
R3840:Mocos	UTSW	18	24676624	missense	probably damaging	1.00
R3841:Mocos	UTSW	18	24676624	missense	probably damaging	1.00
R3847:Mocos	UTSW	18	24676662	missense	probably damaging	0.99
R4059:Mocos	UTSW	18	24679390	missense	probably damaging	1.00
R4158:Mocos	UTSW	18	24674246	missense	probably damaging	0.99
R4205:Mocos	UTSW	18	24666191	missense	possibly damaging	0.88
R4514:Mocos	UTSW	18	24683212	missense	probably damaging	0.99
R4589:Mocos	UTSW	18	24654038	missense	probably damaging	0.99
R4667:Mocos	UTSW	18	24666434	missense	probably benign	0.11
R4668:Mocos	UTSW	18	24666434	missense	probably benign	0.11
R5162:Mocos	UTSW	18	24654052	missense	probably damaging	0.98
R5187:Mocos	UTSW	18	24692554	missense	probably damaging	0.97
R5533:Mocos	UTSW	18	24674300	missense	probably damaging	1.00
R5629:Mocos	UTSW	18	24664085	critical splice donor site	probably null
R5661:Mocos	UTSW	18	24665995	splice site	probably null
R5952:Mocos	UTSW	18	24701387	missense	possibly damaging	0.91
R5987:Mocos	UTSW	18	24686693	missense	probably damaging	1.00
R6173:Mocos	UTSW	18	24676582	missense	probably benign	0.03
R6209:Mocos	UTSW	18	24666615	missense	probably benign	0.41
R6376:Mocos	UTSW	18	24701485	missense	possibly damaging	0.50
R6416:Mocos	UTSW	18	24701456	missense	probably damaging	0.99
R6452:Mocos	UTSW	18	24695941	missense	probably benign	0.02
R6520:Mocos	UTSW	18	24666390	missense	probably benign	0.01
R6631:Mocos	UTSW	18	24699931	missense	probably benign	0.03
R6669:Mocos	UTSW	18	24666410	missense	probably damaging	0.98
R7114:Mocos	UTSW	18	24666515	missense	probably damaging	1.00
R7366:Mocos	UTSW	18	24676616	missense	probably damaging	1.00
R7690:Mocos	UTSW	18	24664025	missense	probably damaging	1.00

Posted On

2016-08-02