Mutagenetix > Incidental Mutations

Incidental Mutation 'R6669:Mocos'

528074

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Is this an essential gene?

Possibly non essential (E-score: 0.291) question?

Stock #

R6669 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 24666410 bp

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 234 (F234I)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068006
AA Change: F234I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: F234I

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

Meta Mutation Damage Score

0.3751

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.5%

Validation Efficiency

97% (33/34)

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: 33 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	A	G	10: 50,840,373	I1952V	probably benign	Het
Atg2b	T	C	12: 105,671,529	E142G	possibly damaging	Het
Bbc3	G	T	7: 16,313,716	A122S	possibly damaging	Het
Cenpu	T	C	8: 46,576,284	S191P	probably damaging	Het
Clic3	G	T	2: 25,457,767	R48L	possibly damaging	Het
Cmya5	T	C	13: 93,093,259	K1774E	probably benign	Het
Cnst	T	A	1: 179,605,073		probably null	Het
Cyfip1	T	A	7: 55,900,061	S657T	probably damaging	Het
Dock10	T	C	1: 80,592,855	Y322C	probably damaging	Het
Epn2	C	T	11: 61,519,558	V550I	probably benign	Het
Evc2	C	T	5: 37,378,378	P466S	possibly damaging	Het
Fancd2	C	T	6: 113,593,327	T1413I	probably benign	Het
Gpat2	G	C	2: 127,431,918	G294R	possibly damaging	Het
Herc4	T	A	10: 63,286,068	W400R	probably benign	Het
Kcna7	T	C	7: 45,409,564	V425A	probably damaging	Het
Klhl3	A	T	13: 58,011,152	D564E	probably benign	Het
Man2b2	T	C	5: 36,810,358	I889V	probably benign	Het
Mcm3ap	A	G	10: 76,507,337	I1688V	probably damaging	Het
Muc20	T	C	16: 32,793,937	T357A	possibly damaging	Het
Ncoa6	T	G	2: 155,399,693		probably null	Het
Nlk	C	A	11: 78,587,066	G284*	probably null	Het
Nrxn1	T	A	17: 90,059,563	T12S	probably damaging	Het
Nrxn2	A	G	19: 6,481,191	Y627C	probably damaging	Het
Ntn1	T	C	11: 68,385,750	N124S	probably benign	Het
Pdzd7	T	A	19: 45,036,751	Q435L	possibly damaging	Het
Rsf1	GCGGCGGCG	GCGGCGGCGTCGGCGGCG	7: 97,579,925		probably benign	Het
Slc30a10	G	A	1: 185,464,428	R429Q	probably benign	Het
Tox4	T	C	14: 52,286,756	Y116H	probably damaging	Het
Trpv5	G	A	6: 41,658,042	A451V	probably damaging	Het
Ube3a	T	C	7: 59,276,857	V482A	probably benign	Het
Vcan	A	T	13: 89,704,731	D703E	probably benign	Het
Xirp2	C	A	2: 67,513,355	A1980E	possibly damaging	Het
Xrcc1	T	C	7: 24,547,337	V10A	probably damaging	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
IGL02976:Mocos	APN	18	24666569	missense	possibly damaging	0.92
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
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
Z1176:Mocos	UTSW	18	24670633	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AAGCCAGAGGACATGTGGTC -3'
(R):5'- GACGTAAAAGTCCTCTCCTGCAAG -3'

Sequencing Primer
(F):5'- CATGTGGTCAGCGGAGG -3'
(R):5'- TAAAAGTCCTCTCCTGCAAGGTAGG -3'

Posted On

2018-07-24