Mutagenetix > Incidental Mutation

Incidental Mutation 'R4668:Mocos'

352205

Institutional Source

Beutler Lab

Gene Symbol

Mocos

Ensembl Gene

ENSMUSG00000039616

Gene Name

molybdenum cofactor sulfurase

Synonyms

1110018O12Rik

Accession Numbers

Essential gene?

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

Stock #

R4668 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24786748-24834632 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24799491 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Histidine at position 242 (Y242H)

Ref Sequence

ENSEMBL: ENSMUSP00000063609 (fasta)

Gene Model

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

AlphaFold

Q14CH1

Predicted Effect

probably benign
Transcript: ENSMUST00000068006
AA Change: Y242H

PolyPhen 2 Score 0.112 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000063609
Gene: ENSMUSG00000039616
AA Change: Y242H

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: 98.6%
10x: 97.3%
20x: 95.4%

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: 105 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4921528I07Rik	A	T	9: 114,133,779 (GRCm39)		noncoding transcript	Het
6430548M08Rik	T	C	8: 120,887,153 (GRCm39)		probably null	Het
Abca4	G	A	3: 121,948,948 (GRCm39)	G531E	possibly damaging	Het
Acad8	A	G	9: 26,901,923 (GRCm39)	L147P	probably damaging	Het
Acot10	T	C	15: 20,666,028 (GRCm39)	S238G	probably benign	Het
Adamtsl2	A	T	2: 26,985,487 (GRCm39)	H457L	probably benign	Het
Ankrd35	A	T	3: 96,586,524 (GRCm39)	T67S	probably damaging	Het
Aox1	T	G	1: 58,373,853 (GRCm39)	I838S	possibly damaging	Het
Arnt2	T	C	7: 83,924,594 (GRCm39)	N411S	probably damaging	Het
Bmpr2	T	C	1: 59,906,875 (GRCm39)	L656S	probably damaging	Het
Carns1	A	T	19: 4,215,475 (GRCm39)	Y902*	probably null	Het
Cavin1	T	C	11: 100,849,622 (GRCm39)	E336G	probably damaging	Het
Cbl	A	T	9: 44,065,145 (GRCm39)	C728S	probably benign	Het
Ccdc136	C	A	6: 29,411,280 (GRCm39)	Q218K	probably damaging	Het
Cdk19	C	A	10: 40,342,706 (GRCm39)	T196K	probably damaging	Het
Ceacam20	T	C	7: 19,719,952 (GRCm39)	Y495H	probably damaging	Het
Celf2	T	C	2: 6,726,339 (GRCm39)	I47V	probably benign	Het
Ces3a	A	C	8: 105,780,055 (GRCm39)	K299T	probably damaging	Het
Cfap61	A	T	2: 145,985,056 (GRCm39)	I967F	probably damaging	Het
Cnksr1	C	T	4: 133,960,282 (GRCm39)		probably benign	Het
Cped1	T	C	6: 22,237,652 (GRCm39)	Y923H	probably benign	Het
Crip3	T	C	17: 46,740,290 (GRCm39)	L30P	probably damaging	Het
Csmd1	A	G	8: 16,073,905 (GRCm39)	I2030T	possibly damaging	Het
Ctse	C	A	1: 131,590,487 (GRCm39)	P70T	probably damaging	Het
Cyp2b23	A	G	7: 26,372,159 (GRCm39)	F429L	probably damaging	Het
Cyp2c66	T	A	19: 39,165,100 (GRCm39)	D360E	probably damaging	Het
D8Ertd738e	A	T	8: 84,976,110 (GRCm39)	L46*	probably null	Het
Dcp2	T	A	18: 44,548,429 (GRCm39)		probably null	Het
Ddx10	C	A	9: 53,010,513 (GRCm39)	D834Y	possibly damaging	Het
Ddx19a	A	T	8: 111,705,716 (GRCm39)	V245E	probably damaging	Het
Dpf2	A	C	19: 5,954,515 (GRCm39)	D130E	probably benign	Het
Emc8	A	T	8: 121,394,518 (GRCm39)	M67K	probably damaging	Het
Ephb6	T	C	6: 41,591,536 (GRCm39)	L231P	possibly damaging	Het
Erp27	T	C	6: 136,885,150 (GRCm39)	E216G	possibly damaging	Het
Esco1	A	T	18: 10,594,734 (GRCm39)	I184N	possibly damaging	Het
Fdxacb1	T	A	9: 50,681,560 (GRCm39)	D11E	possibly damaging	Het
Fhod3	C	T	18: 25,199,395 (GRCm39)	P689S	probably benign	Het
Fnip1	T	A	11: 54,394,385 (GRCm39)	S940R	probably damaging	Het
Ganc	G	T	2: 120,261,548 (GRCm39)	V343F	probably benign	Het
Gldn	T	A	9: 54,239,302 (GRCm39)	L228*	probably null	Het
Gm1123	C	T	9: 98,891,426 (GRCm39)	R341H	probably damaging	Het
Gtf2f2	T	C	14: 76,155,078 (GRCm39)	Y161C	probably benign	Het
Gtf3c1	T	C	7: 125,266,510 (GRCm39)	T979A	probably damaging	Het
H4c1	A	G	13: 23,944,959 (GRCm39)	V61A	probably benign	Het
Hmcn2	G	T	2: 31,325,804 (GRCm39)	R4277L	probably benign	Het
Hsd17b6	T	A	10: 127,830,295 (GRCm39)		probably null	Het
Igkv12-46	T	C	6: 69,741,781 (GRCm39)	T25A	probably damaging	Het
Inpp5e	G	A	2: 26,291,006 (GRCm39)	R354C	probably damaging	Het
Jcad	T	A	18: 4,680,221 (GRCm39)		probably null	Het
Kcna10	G	T	3: 107,102,010 (GRCm39)	A214S	possibly damaging	Het
Kit	T	C	5: 75,801,880 (GRCm39)		probably null	Het
Kmt2a	G	A	9: 44,735,869 (GRCm39)		probably benign	Het
Lama1	T	C	17: 68,059,429 (GRCm39)	V604A	probably benign	Het
Mesd	T	C	7: 83,544,964 (GRCm39)	V138A	probably damaging	Het
Mmp13	T	C	9: 7,272,580 (GRCm39)	F9S	possibly damaging	Het
Mrc1	A	C	2: 14,298,297 (GRCm39)	T718P	probably damaging	Het
Msh6	T	C	17: 88,292,234 (GRCm39)	S330P	possibly damaging	Het
Myh10	A	G	11: 68,695,468 (GRCm39)	K1532E	probably damaging	Het
Nat9	T	C	11: 115,075,368 (GRCm39)	N91S	probably damaging	Het
Neto2	A	T	8: 86,367,691 (GRCm39)	I351N	probably damaging	Het
Nfx1	A	G	4: 40,976,367 (GRCm39)	N14D	possibly damaging	Het
Nlrp4b	A	G	7: 10,448,660 (GRCm39)	T288A	possibly damaging	Het
Nutm2	C	A	13: 50,627,033 (GRCm39)	T396K	probably benign	Het
Ogdhl	A	G	14: 32,054,493 (GRCm39)	T196A	probably benign	Het
Omg	T	A	11: 79,393,249 (GRCm39)	N203I	probably damaging	Het
Or52b4i	A	G	7: 102,191,811 (GRCm39)	I223V	possibly damaging	Het
Or52r1b	A	T	7: 102,691,058 (GRCm39)	D119V	probably benign	Het
Or5b101	A	T	19: 13,005,445 (GRCm39)	F83I	probably benign	Het
Pdgfrb	A	G	18: 61,197,185 (GRCm39)	Y207C	probably damaging	Het
Pdzd7	T	A	19: 45,034,126 (GRCm39)		probably benign	Het
Pgs1	C	A	11: 117,894,333 (GRCm39)	H157N	probably damaging	Het
Pik3c2a	A	G	7: 115,957,923 (GRCm39)	V1121A	probably benign	Het
Pikfyve	T	A	1: 65,289,432 (GRCm39)	C1235S	probably damaging	Het
Pms1	G	A	1: 53,228,633 (GRCm39)	Q872*	probably null	Het
Ptgs2	A	G	1: 149,976,835 (GRCm39)	T23A	probably benign	Het
Rgl1	T	G	1: 152,397,122 (GRCm39)	R716S	probably damaging	Het
Rif1	A	G	2: 52,001,964 (GRCm39)	E1806G	probably benign	Het
Ripor1	T	C	8: 106,341,284 (GRCm39)	V39A	probably benign	Het
Ryr2	G	T	13: 11,608,003 (GRCm39)	T868N	probably benign	Het
Sec22b	A	T	3: 97,828,438 (GRCm39)	D167V	probably damaging	Het
Sec24d	T	C	3: 123,149,423 (GRCm39)	V810A	probably damaging	Het
Shh	T	C	5: 28,662,853 (GRCm39)	*438W	probably null	Het
Slc25a12	G	A	2: 71,145,406 (GRCm39)	S178L	probably benign	Het
Sorl1	A	T	9: 41,895,804 (GRCm39)	W1784R	probably damaging	Het
Sp3	A	T	2: 72,801,325 (GRCm39)	S229R	probably damaging	Het
Spata31f3	A	G	4: 42,871,608 (GRCm39)	F256L	probably benign	Het
Spdye4c	G	A	2: 128,434,273 (GRCm39)	V5I	possibly damaging	Het
Spint2	A	T	7: 28,959,804 (GRCm39)	V53D	probably damaging	Het
Stard3nl	T	A	13: 19,560,689 (GRCm39)	N29Y	probably damaging	Het
Stk25	A	G	1: 93,553,205 (GRCm39)	S299P	probably damaging	Het
Sult2a3	A	G	7: 13,856,786 (GRCm39)	S45P	probably damaging	Het
Thsd7a	A	T	6: 12,408,967 (GRCm39)	V685E	probably damaging	Het
Tm9sf4	T	A	2: 153,029,228 (GRCm39)	V92D	probably damaging	Het
Top2b	T	G	14: 16,409,189 (GRCm38)	I777M	probably damaging	Het
Topors	G	A	4: 40,262,669 (GRCm39)	T205I	probably damaging	Het
Tpo	T	A	12: 30,153,289 (GRCm39)	Y355F	probably benign	Het
Uba1y	T	A	Y: 826,032 (GRCm39)	M396K	possibly damaging	Het
Vmn1r50	A	T	6: 90,084,513 (GRCm39)	Q86L	probably benign	Het
Vmn1r77	A	G	7: 11,775,358 (GRCm39)	K45E	probably damaging	Het
Vmn2r114	A	C	17: 23,529,447 (GRCm39)	N218K	possibly damaging	Het
Vmn2r66	T	A	7: 84,643,905 (GRCm39)	N835I	probably damaging	Het
Vps54	T	G	11: 21,249,989 (GRCm39)	N458K	probably benign	Het
Zcchc7	G	T	4: 44,895,964 (GRCm39)	C304F	probably damaging	Het
Zfp335	A	T	2: 164,742,206 (GRCm39)	C593S	probably damaging	Het
Zmynd15	C	G	11: 70,353,414 (GRCm39)	P214R	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
R1231:Mocos	UTSW	18	24,812,758 (GRCm39)	missense	probably benign	0.01
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
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'- TCAAGCCAGAGGACATGTGG -3'
(R):5'- GTAAAAGTCCTCTCCTGCAAGGTAG -3'

Sequencing Primer
(F):5'- CATGTGGTCAGCGGAGG -3'
(R):5'- CAAGGTAGGCAGCTGCAGTC -3'

Posted On

2015-10-08