Mutagenetix > Incidental Mutation

Incidental Mutation 'R7366:Mocos'

571846

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

045450-MU

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Essential gene?

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

Stock #

R7366 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 24676616 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Lysine at position 425 (N425K)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

AlphaFold

Q14CH1

Predicted Effect

probably damaging
Transcript: ENSMUST00000068006
AA Change: N425K

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

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: N425K

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: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.1%

Validation Efficiency

99% (94/95)

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: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700023F06Rik	T	C	11: 103,208,118		probably null	Het
1700030K09Rik	C	T	8: 72,449,459	P244S	possibly damaging	Het
4930404N11Rik	T	C	10: 81,364,191	D165G	possibly damaging	Het
4930562C15Rik	A	G	16: 4,835,769	I61V	unknown	Het
Abcb11	C	T	2: 69,299,867	D282N	probably damaging	Het
Acbd3	A	G	1: 180,734,499	E181G	probably benign	Het
Ano3	T	C	2: 110,757,067	Y43C	probably damaging	Het
Aspa	T	A	11: 73,319,890		probably null	Het
AU018091	A	T	7: 3,156,330	N620K	probably damaging	Het
Bicc1	G	T	10: 70,943,386	T724K	probably benign	Het
Bmper	T	C	9: 23,484,004	I677T	probably damaging	Het
C3	T	A	17: 57,221,162	T686S	probably benign	Het
Cc2d2a	G	T	5: 43,729,990	R1315L	probably damaging	Het
Ccdc150	G	T	1: 54,300,382	E462*	probably null	Het
Ccdc88c	C	A	12: 100,944,950	R875L	possibly damaging	Het
Cd177	C	T	7: 24,756,722	G207D	probably damaging	Het
Cdh23	A	T	10: 60,315,692	Y2471*	probably null	Het
Cep89	G	A	7: 35,429,928	R630H	probably damaging	Het
Cmbl	A	T	15: 31,589,856	Y244F	probably benign	Het
Dcaf10	T	C	4: 45,373,919	V448A	probably damaging	Het
Ddr2	A	G	1: 169,997,964	W356R	probably damaging	Het
Depdc1a	A	G	3: 159,523,212	I534V	probably benign	Het
Dhtkd1	T	A	2: 5,917,906	I481L	probably benign	Het
Dlst	A	T	12: 85,128,315	I260L	probably benign	Het
Dnajc13	T	G	9: 104,184,706	K1350Q	probably benign	Het
Dpp4	T	C	2: 62,354,599	Y520C	probably damaging	Het
Dr1	C	A	5: 108,275,728	A127E	unknown	Het
Dsel	C	T	1: 111,861,573	G411S	probably damaging	Het
E130308A19Rik	T	C	4: 59,752,770	C628R	probably damaging	Het
Edem3	T	A	1: 151,812,614		probably null	Het
Fam20a	T	A	11: 109,673,342	Q528H	possibly damaging	Het
Fanca	T	C	8: 123,281,213	E981G	probably benign	Het
Fbp2	A	G	13: 62,837,198	V303A	possibly damaging	Het
Flii	C	T	11: 60,721,119	V353M	possibly damaging	Het
Gm10277	T	A	11: 77,785,758	Y129F	unknown	Het
Gm3159	A	T	14: 4,398,525	H72L	probably benign	Het
Gm5114	T	G	7: 39,409,344	T284P	possibly damaging	Het
Gm7168	T	C	17: 13,949,885	S505P	probably damaging	Het
Gnal	T	C	18: 67,211,071	V239A	possibly damaging	Het
Gtf2i	C	T	5: 134,265,749	E370K	probably damaging	Het
Hivep3	CGG	CG	4: 120,097,911	1141	probably null	Het
Il3	T	A	11: 54,265,883	R93S	probably benign	Het
Itsn1	A	G	16: 91,908,450	E1573G	unknown	Het
Kif26a	G	A	12: 112,163,542		probably null	Het
Klb	T	C	5: 65,372,431	M434T	probably damaging	Het
Lrp2	T	A	2: 69,483,806	R2194W	probably damaging	Het
Lrp6	G	T	6: 134,450,818	P1604T	probably damaging	Het
Mak16	A	G	8: 31,166,099	Y119H	possibly damaging	Het
Map3k19	T	A	1: 127,817,455	M1421L	probably damaging	Het
Mbd5	A	G	2: 49,274,568	I1186V	probably benign	Het
Mboat1	T	A	13: 30,202,362	C120S	possibly damaging	Het
Mctp2	T	A	7: 72,259,214	D117V	probably benign	Het
Nav2	A	G	7: 49,554,203		probably null	Het
Ngfr	A	T	11: 95,574,429	W198R	possibly damaging	Het
Nr4a3	T	G	4: 48,051,290	S15A	possibly damaging	Het
Obsl1	T	C	1: 75,502,964	S596G	probably damaging	Het
Olfr111	T	A	17: 37,530,817	V280D	probably damaging	Het
Olfr1414	A	G	1: 92,511,678	S117P	possibly damaging	Het
Olfr578	A	T	7: 102,984,516	I216K	probably damaging	Het
Olfr594	T	G	7: 103,220,533	Y272D	probably benign	Het
Olfr705	G	T	7: 106,873,396	P283Q	probably damaging	Het
Pithd1	T	C	4: 135,987,050	Y29C	probably benign	Het
Plcb3	T	C	19: 6,962,021	T530A	probably benign	Het
Prss40	A	T	1: 34,559,871	Y70*	probably null	Het
Ralgps1	T	C	2: 33,324,688	M61V	possibly damaging	Het
Rbp4	C	T	19: 38,124,962	R36H	possibly damaging	Het
Rnf125	A	G	18: 20,974,433	N7S	not run	Het
Rpe65	G	A	3: 159,624,729	S511N	probably benign	Het
Rspo4	A	T	2: 151,867,873	Y66F	probably damaging	Het
Ruvbl2	A	G	7: 45,422,149	S437P	probably benign	Het
Sele	C	A	1: 164,048,719	R12S	probably benign	Het
Sgo2b	T	A	8: 63,938,417	K139*	probably null	Het
Shroom3	C	A	5: 92,964,606	S1942*	probably null	Het
Slc12a9	G	A	5: 137,328,623	R191*	probably null	Het
Spag9	G	T	11: 94,108,521	V1088L	possibly damaging	Het
Sptb	T	G	12: 76,604,194	D1669A	probably damaging	Het
Sptlc2	A	G	12: 87,314,049		probably null	Het
Sult2a8	A	T	7: 14,416,329		probably null	Het
Synpo2	A	G	3: 123,114,041	V542A	probably damaging	Het
Tecpr2	T	C	12: 110,915,480		probably null	Het
Tenm2	T	C	11: 36,069,414	T1029A	probably benign	Het
Tgoln1	G	C	6: 72,616,278	T73R	probably benign	Het
Tnfaip8l1	C	A	17: 56,171,897	N62K	probably damaging	Het
Tollip	A	G	7: 141,889,597	S174P	probably benign	Het
Trp53tg5	A	G	2: 164,471,107	I216T	possibly damaging	Het
Tssk5	A	G	15: 76,374,513	S58P	probably benign	Het
Ttc9b	T	C	7: 27,654,959	Y157H	probably damaging	Het
Tuba8	A	G	6: 121,222,912	Y185C	probably damaging	Het
Ubr2	C	T	17: 46,955,845	A1127T	probably damaging	Het
Urb1	CACTTAC	CAC	16: 90,772,573		probably benign	Het
Yipf3	T	A	17: 46,248,929	L57Q	possibly damaging	Het
Zbtb32	A	C	7: 30,590,181	C19G	probably damaging	Het
Zfp735	A	T	11: 73,712,153	H641L	possibly damaging	Het
Zfyve28	A	T	5: 34,232,227	Y210N	probably damaging	Het
Zpr1	T	A	9: 46,273,373		probably null	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
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
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'- ATTTGCAATATAGCAGCCATGGC -3'
(R):5'- TACAGAGTGGTCCTGGCAAAAG -3'

Sequencing Primer
(F):5'- TTTTAGAGCAAGCGTCCAGACTC -3'
(R):5'- TCCTGGCAAAAGGGTCCTG -3'

Posted On

2019-09-13