Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4810001:Mocos'

556883

Institutional Source

Beutler Lab

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?

Possibly non essential (E-score: 0.302) question?

Stock #

PIT4810001 (G1)

Quality Score

198.009

Status

Not validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24686702 bp

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 667 (D667G)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000068006
AA Change: D667G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: D667G

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

1x: 93.8%
3x: 91.1%
10x: 85.1%
20x: 72.2%

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1810046K07Rik	C	T	9: 51,291,692	G54D	possibly damaging	Het
4932438H23Rik	A	G	16: 91,055,934	S105P	probably damaging	Het
Adtrp	C	T	13: 41,828,248	W48*	probably null	Het
Agxt2	A	T	15: 10,399,065	M413L	probably benign	Het
Ahnak2	T	A	12: 112,785,594	D211V		Het
Aplnr	T	A	2: 85,137,284	C218S	probably damaging	Het
Arhgdib	T	A	6: 136,924,164	E189V	probably damaging	Het
Atp10a	T	C	7: 58,813,848	I1043T	probably damaging	Het
Atp13a5	C	T	16: 29,314,564	C468Y	probably damaging	Het
Cars2	A	T	8: 11,514,699	C459S	probably benign	Het
Ccr3	T	A	9: 124,029,608	Y327N	probably benign	Het
Ceacam1	T	A	7: 25,471,975	I355F	probably damaging	Het
Celsr3	T	C	9: 108,845,733	L2773P	probably damaging	Het
Ces2g	A	T	8: 104,964,889	H192L	possibly damaging	Het
Cfap157	A	G	2: 32,781,432	F121L	probably damaging	Het
Champ1	G	A	8: 13,879,234	S464N	probably benign	Het
Clasp2	T	A	9: 113,906,067	L990Q	probably damaging	Het
Col6a3	A	T	1: 90,778,794	L2806Q	unknown	Het
Cpz	T	C	5: 35,508,192	E435G	possibly damaging	Het
Crbn	T	A	6: 106,784,479	R233*	probably null	Het
Ctc1	C	T	11: 69,022,526	T116I	probably benign	Het
Cyp4f17	T	C	17: 32,524,600	S314P	possibly damaging	Het
Dmxl1	A	G	18: 49,931,963	E2625G	probably damaging	Het
Dock7	T	A	4: 98,945,559	R1874*	probably null	Het
E130311K13Rik	A	T	3: 63,915,701	L174*	probably null	Het
Etnppl	A	G	3: 130,620,714	D86G	probably benign	Het
Fbxw18	C	A	9: 109,676,890	E438*	probably null	Het
Gpatch8	T	C	11: 102,481,842	N290S	unknown	Het
Gpr155	A	C	2: 73,348,263	L727R	probably benign	Het
Gpr158	C	G	2: 21,826,871	D927E	probably benign	Het
Igsf10	T	C	3: 59,318,482	Y2590C	probably damaging	Het
Ints7	A	G	1: 191,596,236	D207G	probably damaging	Het
Iqsec1	A	G	6: 90,670,491	L743P	probably damaging	Het
Kansl1l	A	T	1: 66,762,149	S553T	probably damaging	Het
Klhl14	G	T	18: 21,557,823	Y523*	probably null	Het
Krtap14	A	G	16: 88,825,627	S155P	probably damaging	Het
Lrrc3b	A	G	14: 15,358,273	V111A	probably benign	Het
Maml2	A	G	9: 13,620,024	N178S		Het
Megf8	G	A	7: 25,342,285	C1208Y	probably damaging	Het
Nid2	A	G	14: 19,810,090	T1359A	possibly damaging	Het
Nup210	T	C	6: 91,030,124	E1357G	probably damaging	Het
Olfr1239	A	T	2: 89,417,953	H153Q	probably damaging	Het
Olfr1411	T	A	1: 92,597,154	F212I	probably benign	Het
Olfr715	A	T	7: 107,128,559	M278K	probably benign	Het
Pign	A	G	1: 105,597,762	V447A	possibly damaging	Het
Pomp	T	C	5: 147,869,419	L57P	probably benign	Het
Rbms3	T	A	9: 117,056,793	Y128F	probably damaging	Het
Slc12a4	A	G	8: 105,951,596	F322L	probably benign	Het
Slc16a9	T	A	10: 70,283,932	C468*	probably null	Het
Slc22a18	A	G	7: 143,492,931	I271V	probably benign	Het
Slc25a41	A	G	17: 57,039,933	V20A	possibly damaging	Het
Smim7	A	T	8: 72,571,013	L6Q	probably damaging	Het
Snx29	T	C	16: 11,400,981	V227A	probably damaging	Het
Sowaha	A	T	11: 53,478,463	L482Q	probably damaging	Het
Srp19	A	G	18: 34,334,470	Y68C	probably damaging	Het
Tecr	A	G	8: 83,572,255	S298P	probably damaging	Het
Terb2	T	A	2: 122,204,898	I200N	probably damaging	Het
Togaram1	G	A	12: 64,983,512	S1030N	probably damaging	Het
Trav7n-4	A	G	14: 53,091,736	M68V	probably benign	Het
Tshz1	A	C	18: 84,013,250	L1011R	possibly damaging	Het
Tubb3	A	G	8: 123,421,657	E443G	possibly damaging	Het
Uba5	A	T	9: 104,055,197	I189K	probably damaging	Het
Vasn	A	G	16: 4,650,045	T619A	probably benign	Het
Wbp1l	A	G	19: 46,654,322	D254G	probably benign	Het
Zzef1	T	C	11: 72,850,745	F738L	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
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
Z1176:Mocos	UTSW	18	24670633	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TAGAGCCAGCCACTTTCCTC -3'
(R):5'- AGCCCTTGGGAGTCATAAGTAG -3'

Sequencing Primer
(F):5'- TCCTCATCTAATCAAATCCCAGTG -3'
(R):5'- CCCTTGGGAGTCATAAGTAGTGAAG -3'

Posted On

2019-06-07