Mutagenetix > Incidental Mutation

Incidental Mutation 'R8458:Mocos'

655150

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

067835-MU

Accession Numbers

NCBI RefSeq: NM_026779.1; MGI:1915841

Essential gene?

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

Stock #

R8458 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24653691-24701556 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 24666257 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 183 (K183E)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

AlphaFold

Q14CH1

Predicted Effect

probably benign
Transcript: ENSMUST00000068006
AA Change: K183E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: K183E

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: 99.9%
10x: 99.7%
20x: 99.1%

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: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts20	T	A	15: 94,353,640	H422L	probably benign	Het
Adgra3	G	T	5: 49,987,671	P527T	probably damaging	Het
Afg1l	A	G	10: 42,426,521	V161A	probably damaging	Het
Als2cl	A	C	9: 110,884,957	E65A	probably damaging	Het
Arl3	A	C	19: 46,558,270	S39A	probably benign	Het
Cacna1a	T	C	8: 84,549,458	V560A	probably damaging	Het
Ccr10	C	T	11: 101,174,156	G183R	probably damaging	Het
Celsr2	T	A	3: 108,398,902	T2029S	probably benign	Het
Chkb	A	T	15: 89,428,173	V213E	possibly damaging	Het
Chst5	A	G	8: 111,890,790	V66A	probably damaging	Het
Crx	C	A	7: 15,868,106	A216S	possibly damaging	Het
Ctnnd1	T	C	2: 84,613,943	D556G	probably damaging	Het
Cyp4a14	C	A	4: 115,495,932	G61V	probably damaging	Het
Cyp4f17	T	A	17: 32,520,576	F157L	probably damaging	Het
Dnah12	A	T	14: 26,826,892		probably null	Het
Dnah14	A	C	1: 181,806,012	H4P		Het
Dnah7a	T	C	1: 53,617,983	D878G	probably benign	Het
Epb41l1	C	T	2: 156,521,764	T731I	probably benign	Het
Epg5	G	C	18: 77,948,731	E214D	probably benign	Het
Fam171b	A	G	2: 83,860,520	T276A	probably benign	Het
Fat4	G	A	3: 38,981,553	R3118H	probably benign	Het
Fbrs	C	T	7: 127,483,157	R327W	probably damaging	Het
Fmo3	A	G	1: 162,966,940	V187A	possibly damaging	Het
Gins1	T	C	2: 150,930,887	V190A	probably benign	Het
Gm17067	T	C	7: 42,708,731	S116G	probably damaging	Het
Gm5478	A	G	15: 101,645,427	V250A	probably benign	Het
Gpr85	T	C	6: 13,836,849	T19A	probably benign	Het
Hepacam2	T	C	6: 3,483,358	N217S	probably damaging	Het
Igf1r	T	C	7: 68,195,629	Y889H	probably benign	Het
Itpr2	T	G	6: 146,233,966	R1822S	possibly damaging	Het
Kcnk7	C	T	19: 5,704,379		probably benign	Het
Klk1	T	C	7: 44,225,509	S11P	probably damaging	Het
Klra7	C	T	6: 130,224,146	G216R	probably damaging	Het
Krt34	T	C	11: 100,040,075	D167G	probably damaging	Het
Larp1b	A	C	3: 40,976,560	E291D	probably benign	Het
Lats1	T	A	10: 7,710,924	L950*	probably null	Het
Lrrc2	A	C	9: 110,970,150	D255A	probably damaging	Het
Lrrc49	A	T	9: 60,598,173	M605K	probably benign	Het
Mpl	C	A	4: 118,444,016		probably null	Het
Mroh9	T	A	1: 163,055,681	T410S	probably damaging	Het
Notch3	T	C	17: 32,156,050	E430G	probably damaging	Het
Nsun6	T	C	2: 15,030,052	T252A	probably benign	Het
Ntrk1	C	A	3: 87,791,669		probably null	Het
Nts	G	T	10: 102,485,060	T56N	probably damaging	Het
Nup210l	A	G	3: 90,185,567	D1276G	probably null	Het
Olfr1255	G	T	2: 89,817,150	V269F	probably damaging	Het
Olfr1458	T	C	19: 13,102,476	Y276C	probably damaging	Het
Olfr642	C	A	7: 104,049,668	A229S	possibly damaging	Het
Osbpl8	A	G	10: 111,277,316	S535G	possibly damaging	Het
Pax9	A	G	12: 56,696,765	I66V	possibly damaging	Het
Pja2	A	G	17: 64,292,848	V547A	probably damaging	Het
Plekhs1	T	C	19: 56,477,158	L185S	probably benign	Het
Prkdc	T	A	16: 15,790,676		probably null	Het
Ptgdr2	A	T	19: 10,940,421	T101S	possibly damaging	Het
Ptprd	T	C	4: 76,066,259	D550G	probably benign	Het
Ptx3	G	T	3: 66,220,998	R160L	probably benign	Het
Rdh16f1	A	C	10: 127,788,845	E184A	probably damaging	Het
Rfx3	C	T	19: 27,793,672	E560K	possibly damaging	Het
Scgb2b24	T	C	7: 33,737,354	Q111R	probably benign	Het
Spg20	A	G	3: 55,124,894	D383G	probably damaging	Het
Stpg3	C	A	2: 25,213,321	R252L	probably damaging	Het
Tcp11l2	C	T	10: 84,613,532	Q454*	probably null	Het
Trav10d	A	G	14: 52,811,323	Y57C	probably damaging	Het
Vmn1r170	T	A	7: 23,606,896	M241K	possibly damaging	Het
Vwa8	T	A	14: 79,064,892	N1000K	probably damaging	Het
Wdsub1	T	C	2: 59,861,701	E329G	probably benign	Het
Wnk4	C	A	11: 101,275,321	C891*	probably null	Het
Zdhhc16	G	T	19: 41,939,654	C204F	probably damaging	Het
Zfp868	T	C	8: 69,611,908	I259V	possibly damaging	Het
Zranb3	G	T	1: 127,992,910	Q426K	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
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
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
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'- AGGACTACATCGTGATCTTCAC -3'
(R):5'- ACATAGGAGGCTGCATCCAG -3'

Sequencing Primer
(F):5'- TCTTCACAGCTGGGAGTACAG -3'
(R):5'- TCCAGCAGCACAAACCACTTC -3'

Posted On

2020-10-20