Mutagenetix > Incidental Mutation

Incidental Mutation 'R4205:Mocos'

318887

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

041034-MU

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Essential gene?

Probably non essential (E-score: 0.173) question?

Stock #

R4205 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 24666191 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Methionine at position 161 (V161M)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

AlphaFold

Q14CH1

Predicted Effect

possibly damaging
Transcript: ENSMUST00000068006
AA Change: V161M

PolyPhen 2 Score 0.877 (Sensitivity: 0.83; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: V161M

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

0.0760

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 95.2%

Validation Efficiency

100% (40/40)

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: 36 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akap13	T	C	7: 75,610,919	I294T	probably benign	Het
Alpk2	G	A	18: 65,305,211	T1037M	possibly damaging	Het
Ano7	A	G	1: 93,380,478	D77G	probably benign	Het
Arhgef5	A	G	6: 43,273,832	T506A	possibly damaging	Het
Bclaf3	T	A	X: 159,553,833	S419T	probably damaging	Het
Cd101	A	C	3: 101,018,685	D239E	probably damaging	Het
Cdhr1	G	T	14: 37,080,504	F667L	probably benign	Het
Csrp1	T	G	1: 135,745,327	C61G	probably damaging	Het
Dmrtc2	C	T	7: 24,875,806	Q275*	probably null	Het
Dsg1b	A	T	18: 20,408,821	D795V	probably damaging	Het
Elavl1	A	G	8: 4,289,851	W244R	probably damaging	Het
Emilin1	T	C	5: 30,919,899		probably benign	Het
Fam20c	T	G	5: 138,755,676	L14R	probably damaging	Het
Glt1d1	G	T	5: 127,689,871	R217L	probably benign	Het
Gm13762	A	G	2: 88,973,138	V251A	probably benign	Het
Gm498	G	T	7: 143,869,227	V17L	probably damaging	Het
Klk14	G	A	7: 43,694,934	R223H	probably benign	Het
Lrrc26	G	T	2: 25,290,158	C57F	probably damaging	Het
Maml1	A	T	11: 50,257,913	L1000Q	probably damaging	Het
Map2	A	G	1: 66,425,290	Y125C	probably damaging	Het
Mapk1	T	C	16: 17,038,457		probably benign	Het
Pcdhgb5	A	G	18: 37,732,663	N504D	possibly damaging	Het
Pcx	G	A	19: 4,619,166	V731M	possibly damaging	Het
Ppfibp1	C	A	6: 147,029,581	S878R	probably damaging	Het
Ptprh	C	A	7: 4,597,992	G129W	probably damaging	Het
Rasal1	T	C	5: 120,659,563	V120A	probably benign	Het
Rpl31-ps17	C	T	12: 54,701,612		noncoding transcript	Het
Rtn4rl1	A	T	11: 75,265,983	I414F	probably damaging	Het
Rtn4rl1	C	A	11: 75,265,992	P417T	probably damaging	Het
Shank3	T	C	15: 89,503,318	L230P	probably damaging	Het
Shroom3	G	T	5: 92,943,086	V1151F	probably damaging	Het
Taar9	C	T	10: 24,108,579	R319H	possibly damaging	Het
Tbck	T	A	3: 132,838,028	I880N	probably benign	Het
Tsku	C	T	7: 98,352,998	R42H	probably damaging	Het
Tyr	A	G	7: 87,429,068	L528P	possibly damaging	Het
Zc3h13	A	G	14: 75,327,601	D718G	unknown	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
buteo	UTSW	18	24666410	missense	probably damaging	0.98
swainson	UTSW	18	24679390	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
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
R7955:Mocos	UTSW	18	24666159	missense	probably damaging	1.00
R8458:Mocos	UTSW	18	24666257	missense	probably benign	0.00
R8762:Mocos	UTSW	18	24679497	missense	probably damaging	0.99
R9072:Mocos	UTSW	18	24664032	missense	probably damaging	0.98
R9073:Mocos	UTSW	18	24664032	missense	probably damaging	0.98
R9192:Mocos	UTSW	18	24679537	missense	probably benign	0.00
R9781:Mocos	UTSW	18	24695882	missense	probably benign	0.02
Z1176:Mocos	UTSW	18	24670633	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGAAGAAGCTGAGAGCCCG -3'
(R):5'- TGACCTCCTCTACCCATGACAATG -3'

Sequencing Primer
(F):5'- TGAGAGCCCGCTGTGACATTG -3'
(R):5'- CATGACAATGGGTATCTGGTGCC -3'

Posted On

2015-06-10