Mutagenetix > Incidental Mutation

Incidental Mutation 'R1231:Mocos'

152310

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

MMRRC Submission

039300-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.172) question?

Stock #

R1231 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24786748-24834632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24812758 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Serine at position 551 (A551S)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

AlphaFold

Q14CH1

Predicted Effect

probably benign
Transcript: ENSMUST00000068006
AA Change: A551S

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: A551S

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: 99.2%
3x: 98.3%
10x: 96.0%
20x: 91.6%

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: 21 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ascc3	C	T	10: 50,699,756 (GRCm39)	P1860S	probably damaging	Het
Cabp5	T	C	7: 13,139,350 (GRCm39)	I125T	probably damaging	Het
Ccnd2	A	T	6: 127,107,363 (GRCm39)	S269T	probably benign	Het
Cmss1	C	T	16: 57,136,560 (GRCm39)	R104H	probably benign	Het
Dock9	A	T	14: 121,813,362 (GRCm39)	M1522K	possibly damaging	Het
Fcrl5	A	G	3: 87,349,486 (GRCm39)	H87R	probably benign	Het
Gabrr3	G	A	16: 59,281,763 (GRCm39)	D373N	probably benign	Het
Gm21738	T	A	14: 19,415,957 (GRCm38)	Y194F	probably benign	Het
Gm21738	T	C	14: 19,415,963 (GRCm38)	K192R	probably benign	Het
Gtf3c3	C	T	1: 54,456,937 (GRCm39)	A488T	probably damaging	Het
Itgae	C	T	11: 73,010,205 (GRCm39)	T565I	probably benign	Het
Mtmr9	A	T	14: 63,765,640 (GRCm39)	N418K	possibly damaging	Het
Mtus2	T	A	5: 148,014,198 (GRCm39)	S330R	probably benign	Het
Or2t1	A	T	14: 14,328,515 (GRCm38)	M135L	probably benign	Het
Psg16	T	A	7: 16,829,230 (GRCm39)	Y271*	probably null	Het
Psmd2	T	A	16: 20,474,335 (GRCm39)	M297K	possibly damaging	Het
Rnf220	A	T	4: 117,347,081 (GRCm39)	S110R	probably damaging	Het
Sned1	G	A	1: 93,209,376 (GRCm39)	V830M	possibly damaging	Het
St8sia5	T	C	18: 77,320,502 (GRCm39)	Y49H	probably damaging	Het
Umodl1	A	G	17: 31,178,252 (GRCm39)	Y76C	probably damaging	Het
Urm1	G	T	2: 29,722,711 (GRCm39)	A15S	probably damaging	Het

Other mutations in Mocos

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00310:Mocos	APN	18	24,793,101 (GRCm39)	missense	possibly damaging	0.88
IGL01859:Mocos	APN	18	24,799,717 (GRCm39)	splice site	probably benign
IGL01884:Mocos	APN	18	24,816,273 (GRCm39)	missense	probably damaging	1.00
IGL02174:Mocos	APN	18	24,828,953 (GRCm39)	missense	probably benign	0.00
IGL02966:Mocos	APN	18	24,809,668 (GRCm39)	missense	probably damaging	1.00
IGL02976:Mocos	APN	18	24,799,626 (GRCm39)	missense	possibly damaging	0.92
buteo	UTSW	18	24,799,467 (GRCm39)	missense	probably damaging	0.98
swainson	UTSW	18	24,812,447 (GRCm39)	missense	probably damaging	1.00
P0008:Mocos	UTSW	18	24,812,663 (GRCm39)	missense	probably benign	0.32
PIT4810001:Mocos	UTSW	18	24,819,759 (GRCm39)	missense	probably damaging	1.00
R0131:Mocos	UTSW	18	24,812,819 (GRCm39)	missense	probably benign	0.01
R0131:Mocos	UTSW	18	24,812,819 (GRCm39)	missense	probably benign	0.01
R0132:Mocos	UTSW	18	24,812,819 (GRCm39)	missense	probably benign	0.01
R0265:Mocos	UTSW	18	24,799,333 (GRCm39)	missense	probably benign	0.01
R0737:Mocos	UTSW	18	24,822,044 (GRCm39)	missense	probably damaging	0.98
R1351:Mocos	UTSW	18	24,793,107 (GRCm39)	missense	probably damaging	1.00
R1699:Mocos	UTSW	18	24,816,273 (GRCm39)	missense	probably damaging	1.00
R1853:Mocos	UTSW	18	24,829,026 (GRCm39)	missense	probably damaging	1.00
R2190:Mocos	UTSW	18	24,797,114 (GRCm39)	missense	probably benign	0.01
R2350:Mocos	UTSW	18	24,799,713 (GRCm39)	splice site	probably benign
R2680:Mocos	UTSW	18	24,809,686 (GRCm39)	missense	probably damaging	1.00
R3840:Mocos	UTSW	18	24,809,681 (GRCm39)	missense	probably damaging	1.00
R3841:Mocos	UTSW	18	24,809,681 (GRCm39)	missense	probably damaging	1.00
R3847:Mocos	UTSW	18	24,809,719 (GRCm39)	missense	probably damaging	0.99
R4059:Mocos	UTSW	18	24,812,447 (GRCm39)	missense	probably damaging	1.00
R4158:Mocos	UTSW	18	24,807,303 (GRCm39)	missense	probably damaging	0.99
R4205:Mocos	UTSW	18	24,799,248 (GRCm39)	missense	possibly damaging	0.88
R4514:Mocos	UTSW	18	24,816,269 (GRCm39)	missense	probably damaging	0.99
R4589:Mocos	UTSW	18	24,787,095 (GRCm39)	missense	probably damaging	0.99
R4667:Mocos	UTSW	18	24,799,491 (GRCm39)	missense	probably benign	0.11
R4668:Mocos	UTSW	18	24,799,491 (GRCm39)	missense	probably benign	0.11
R5162:Mocos	UTSW	18	24,787,109 (GRCm39)	missense	probably damaging	0.98
R5187:Mocos	UTSW	18	24,825,611 (GRCm39)	missense	probably damaging	0.97
R5533:Mocos	UTSW	18	24,807,357 (GRCm39)	missense	probably damaging	1.00
R5629:Mocos	UTSW	18	24,797,142 (GRCm39)	critical splice donor site	probably null
R5661:Mocos	UTSW	18	24,799,052 (GRCm39)	splice site	probably null
R5952:Mocos	UTSW	18	24,834,444 (GRCm39)	missense	possibly damaging	0.91
R5987:Mocos	UTSW	18	24,819,750 (GRCm39)	missense	probably damaging	1.00
R6173:Mocos	UTSW	18	24,809,639 (GRCm39)	missense	probably benign	0.03
R6209:Mocos	UTSW	18	24,799,672 (GRCm39)	missense	probably benign	0.41
R6376:Mocos	UTSW	18	24,834,542 (GRCm39)	missense	possibly damaging	0.50
R6416:Mocos	UTSW	18	24,834,513 (GRCm39)	missense	probably damaging	0.99
R6452:Mocos	UTSW	18	24,828,998 (GRCm39)	missense	probably benign	0.02
R6520:Mocos	UTSW	18	24,799,447 (GRCm39)	missense	probably benign	0.01
R6631:Mocos	UTSW	18	24,832,988 (GRCm39)	missense	probably benign	0.03
R6669:Mocos	UTSW	18	24,799,467 (GRCm39)	missense	probably damaging	0.98
R7114:Mocos	UTSW	18	24,799,572 (GRCm39)	missense	probably damaging	1.00
R7366:Mocos	UTSW	18	24,809,673 (GRCm39)	missense	probably damaging	1.00
R7690:Mocos	UTSW	18	24,797,082 (GRCm39)	missense	probably damaging	1.00
R7955:Mocos	UTSW	18	24,799,216 (GRCm39)	missense	probably damaging	1.00
R8458:Mocos	UTSW	18	24,799,314 (GRCm39)	missense	probably benign	0.00
R8762:Mocos	UTSW	18	24,812,554 (GRCm39)	missense	probably damaging	0.99
R9072:Mocos	UTSW	18	24,797,089 (GRCm39)	missense	probably damaging	0.98
R9073:Mocos	UTSW	18	24,797,089 (GRCm39)	missense	probably damaging	0.98
R9192:Mocos	UTSW	18	24,812,594 (GRCm39)	missense	probably benign	0.00
R9781:Mocos	UTSW	18	24,828,939 (GRCm39)	missense	probably benign	0.02
Z1176:Mocos	UTSW	18	24,803,690 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TGTTCCTCAAGCCAGCATCAGTG -3'
(R):5'- CGTGCGTTCCAGTAAGCAACATC -3'

Sequencing Primer
(F):5'- CATCAGTGATGCTGGGGC -3'
(R):5'- aGCTATACGCTGCATCAAAAAATAGG -3'

Posted On

2014-01-29