Mutagenetix > Incidental Mutations

Incidental Mutation 'R0131:Mocos'

68325

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

038416-MU

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Is this an essential gene?

Possibly non essential (E-score: 0.342) question?

Stock #

R0131 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to G at 24679762 bp

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 571 (I571S)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

Predicted Effect

probably benign
Transcript: ENSMUST00000068006
AA Change: I571S

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: I571S

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

0.0898

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.6%
20x: 95.5%

Validation Efficiency

99% (74/75)

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9530053A07Rik	A	G	7: 28,137,615	R320G	probably damaging	Het
Abcc12	A	G	8: 86,531,568	I773T	probably benign	Het
Adamtsl1	T	A	4: 86,342,723	I1057N	possibly damaging	Het
Anxa5	G	A	3: 36,450,672	A247V	probably damaging	Het
Ascc3	T	G	10: 50,735,329	W1589G	probably damaging	Het
Atp2b2	G	A	6: 113,793,782	P389S	probably damaging	Het
Bpifa6	T	A	2: 153,982,931	S9T	probably benign	Het
Chd8	A	G	14: 52,205,326	V589A	probably benign	Het
Chrnb2	T	C	3: 89,764,406	M1V	probably null	Het
Col16a1	T	A	4: 130,067,096	V449E	unknown	Het
Cttnbp2nl	T	G	3: 105,005,857	K237T	probably damaging	Het
Dazap1	T	G	10: 80,278,226		probably null	Het
Fam187b	T	A	7: 30,989,120	V22E	probably damaging	Het
Fat2	A	T	11: 55,273,211	S3073T	probably benign	Het
Gm16069	T	C	3: 89,180,925		probably benign	Het
Gm4788	T	A	1: 139,754,271	T196S	probably damaging	Het
H2-T24	T	A	17: 36,014,986	I238F	probably damaging	Het
Hectd4	A	G	5: 121,333,024	E2658G	probably benign	Het
Herc1	A	C	9: 66,480,910	I3826L	probably benign	Het
Hinfp	A	G	9: 44,299,763	C67R	probably damaging	Het
Hp1bp3	C	T	4: 138,237,209	S348F	probably damaging	Het
Hspg2	T	C	4: 137,551,887	Y3094H	probably damaging	Het
Htr1f	A	G	16: 64,926,728	V67A	probably damaging	Het
Iqcc	T	G	4: 129,616,599	E374D	probably damaging	Het
Kcnj9	T	C	1: 172,326,198	T120A	probably damaging	Het
Kif3a	A	G	11: 53,586,916	K404R	possibly damaging	Het
Kitl	C	T	10: 100,087,364	P208S	probably benign	Het
Lpcat4	A	G	2: 112,246,748	Y479C	probably damaging	Het
Lrrc74b	T	C	16: 17,553,152	N227S	probably damaging	Het
Mdc1	T	A	17: 35,852,581	V1007D	probably damaging	Het
Myh8	A	G	11: 67,292,188	N659D	probably damaging	Het
Naip2	A	G	13: 100,183,788	V240A	probably benign	Het
Nap1l1	T	C	10: 111,485,509	S37P	probably benign	Het
Nin	T	G	12: 70,051,141	K515T	probably damaging	Het
Npl	T	A	1: 153,509,118	K258*	probably null	Het
Ntn4	T	A	10: 93,644,707	S98T	possibly damaging	Het
Olfr1037	T	C	2: 86,085,500	I92M	probably damaging	Het
Olfr177	C	A	16: 58,872,906	M81I	probably benign	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Olfr417	T	C	1: 174,369,586	V223A	probably damaging	Het
Pkp2	T	C	16: 16,240,713		probably benign	Het
Ppox	C	A	1: 171,279,275	A192S	possibly damaging	Het
Prkdc	T	C	16: 15,713,653	L1380S	probably benign	Het
Psd4	C	A	2: 24,405,351	A839E	probably damaging	Het
Ptprn2	T	G	12: 116,722,091	F57V	probably damaging	Het
Ptprt	C	T	2: 162,278,110	V146I	probably benign	Het
R3hdm2	T	A	10: 127,498,453	M915K	probably damaging	Het
Rab26	C	T	17: 24,530,785		probably null	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Rprd2	T	C	3: 95,774,361	K407E	probably damaging	Het
Siah3	G	A	14: 75,456,134	V27I	possibly damaging	Het
Slc14a2	T	A	18: 78,192,123	N280Y	probably damaging	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc25a35	A	G	11: 68,971,960	Y247C	probably damaging	Het
Slc29a4	A	G	5: 142,705,530	D55G	probably benign	Het
Slc35d1	C	T	4: 103,208,181	V189I	probably benign	Het
Srrm1	G	A	4: 135,340,573	R322*	probably null	Het
Stac3	A	T	10: 127,503,650	R138S	probably damaging	Het
Tbc1d9b	T	C	11: 50,135,924	I73T	probably benign	Het
Tgtp1	A	G	11: 48,987,332	F182S	probably benign	Het
Tmcc3	T	C	10: 94,545,575		probably benign	Het
Tmem116	A	G	5: 121,493,782		probably benign	Het
Tmem260	T	A	14: 48,483,322	C306*	probably null	Het
Tspyl1	A	G	10: 34,283,089	N270S	probably damaging	Het
Tusc1	A	T	4: 93,334,833	H196Q	probably benign	Het
Ugt2a1	T	A	5: 87,474,861	K293*	probably null	Het
Vmn2r102	A	C	17: 19,678,763	T456P	probably benign	Het
Vmn2r90	T	A	17: 17,712,249	S139R	probably benign	Het
Zfp879	C	A	11: 50,833,599	G210V	probably damaging	Het
Zmym2	A	G	14: 56,943,258	N876D	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
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
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
Z1176:Mocos	UTSW	18	24670633	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- GGCCTTAACCTCGAAGAGTGACTG -3'
(R):5'- GGCTGTCCAAACGACAACAATCTG -3'

Sequencing Primer
(F):5'- GTCACTCACCTCAGGAAGGTTC -3'
(R):5'- ACGACAACAATCTGACATTTGG -3'

Posted On

2013-09-03