Mutagenetix > Incidental Mutation

Incidental Mutation 'R1183:Mocs3'

101697

Institutional Source

Beutler Lab

Gene Symbol

Mocs3

Ensembl Gene

ENSMUSG00000074576

Gene Name

molybdenum cofactor synthesis 3

Synonyms

Uba4, 1700020H17Rik

MMRRC Submission

039255-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.918) question?

Stock #

R1183 (G1)

Quality Score

206

Status

Not validated

Chromosome

Chromosomal Location

168072542-168074223 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 168073573 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 340 (D340G)

Ref Sequence

ENSEMBL: ENSMUSP00000096670 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000099071] [ENSMUST00000109193] [ENSMUST00000138667] [ENSMUST00000154111]

AlphaFold

A2BDX3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000099071
AA Change: D340G

PolyPhen 2 Score 0.918 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000096670
Gene: ENSMUSG00000074576
AA Change: D340G

Domain	Start	End	E-Value	Type
coiled coil region	5	34	N/A	INTRINSIC
Pfam:ThiF	63	303	6e-66	PFAM
RHOD	337	455	7.43e-12	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000099072

SMART Domains

Protein: ENSMUSP00000096671
Gene: ENSMUSG00000078919

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	16	118	1.8e-11	PFAM
Pfam:Glyco_tranf_2_2	20	119	1.3e-8	PFAM
Pfam:Glycos_transf_2	20	119	6.3e-28	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000109193

SMART Domains

Protein: ENSMUSP00000104816
Gene: ENSMUSG00000078919

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_2	2	101	1.2e-8	PFAM
Pfam:Glycos_transf_2	2	147	7.8e-36	PFAM
Pfam:Glyco_tranf_2_3	2	187	1.2e-11	PFAM
Pfam:Glyco_transf_21	34	148	1.1e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000138667

SMART Domains

Protein: ENSMUSP00000139070
Gene: ENSMUSG00000093752

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	24	240	1.1e-13	PFAM
Pfam:Glyco_tranf_2_2	28	153	8.4e-10	PFAM
Pfam:Glycos_transf_2	28	199	3.8e-40	PFAM
Pfam:Glyco_transf_21	87	200	1.5e-7	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000142482

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150437

Predicted Effect

probably benign
Transcript: ENSMUST00000154111

SMART Domains

Protein: ENSMUSP00000118776
Gene: ENSMUSG00000078919

Domain	Start	End	E-Value	Type
Pfam:Glyco_tranf_2_3	24	241	3.2e-13	PFAM
Pfam:Glyco_tranf_2_2	28	153	7.6e-10	PFAM
Pfam:Glycos_transf_2	28	199	8.1e-41	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000156800

Coding Region Coverage

1x: 98.9%
3x: 97.9%
10x: 95.0%
20x: 88.8%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Molybdenum cofactor (MoCo) is necessary for the function of all molybdoenzymes. The protein encoded by this gene adenylates and activates molybdopterin synthase, an enzyme required for biosynthesis of MoCo. This gene contains no introns. A pseudogene of this gene is present on chromosome 14. [provided by RefSeq, Nov 2012]

Allele List at MGI

Other mutations in this stock

Total: 83 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aars1	T	G	8: 111,768,206 (GRCm39)	Y192*	probably null	Het
Abcc6	T	C	7: 45,634,677 (GRCm39)	Y1100C	probably damaging	Het
Adamtsl2	T	C	2: 26,974,092 (GRCm39)	W132R	probably damaging	Het
Adgra2	T	A	8: 27,604,416 (GRCm39)	V497E	probably damaging	Het
Adtrp	T	G	13: 41,981,813 (GRCm39)		probably benign	Het
Alg9	T	A	9: 50,700,833 (GRCm39)	L201Q	possibly damaging	Het
Ap4e1	T	A	2: 126,856,121 (GRCm39)	I84K	probably damaging	Het
Atrnl1	T	C	19: 57,638,725 (GRCm39)	S288P	probably damaging	Het
Bltp1	T	A	3: 36,949,452 (GRCm39)	L366Q	possibly damaging	Het
Cacna1a	A	G	8: 85,306,846 (GRCm39)	D1367G	probably damaging	Het
Card19	C	T	13: 49,358,727 (GRCm39)	R82Q	probably damaging	Het
Cep128	T	C	12: 91,292,372 (GRCm39)	I226V	possibly damaging	Het
Ces1f	A	C	8: 93,994,633 (GRCm39)	D259E	probably benign	Het
Ckap5	T	A	2: 91,416,611 (GRCm39)	M1072K	probably benign	Het
Dcpp2	T	A	17: 24,119,468 (GRCm39)	V94D	probably benign	Het
Dnah2	T	C	11: 69,337,474 (GRCm39)	D3209G	possibly damaging	Het
Dsg1c	A	G	18: 20,416,255 (GRCm39)	T719A	probably damaging	Het
Dsp	G	A	13: 38,375,716 (GRCm39)	W1167*	probably null	Het
Eml5	T	C	12: 98,758,305 (GRCm39)	I1874V	probably benign	Het
Epg5	A	G	18: 78,003,926 (GRCm39)	T645A	probably damaging	Het
F2rl2	T	C	13: 95,837,621 (GRCm39)	L222S	probably damaging	Het
Fam114a1	T	A	5: 65,191,731 (GRCm39)	C495S	probably damaging	Het
Fbn1	A	T	2: 125,163,537 (GRCm39)	D2106E	probably benign	Het
Fgf14	T	A	14: 124,913,936 (GRCm39)	N65I	probably benign	Het
Fip1l1	T	C	5: 74,755,763 (GRCm39)	Y497H	probably damaging	Het
Fn1	A	C	1: 71,625,404 (GRCm39)	D2376E	probably damaging	Het
Foxd2	T	C	4: 114,764,662 (GRCm39)	T453A	possibly damaging	Het
Galnt1	G	T	18: 24,404,647 (GRCm39)	W328L	probably damaging	Het
Gapt	A	G	13: 110,490,372 (GRCm39)	V97A	possibly damaging	Het
Gatad1	A	G	5: 3,693,707 (GRCm39)	V154A	possibly damaging	Het
Gdf15	A	G	8: 71,084,202 (GRCm39)	F21L	probably benign	Het
Igdcc4	T	C	9: 65,029,182 (GRCm39)	F273S	possibly damaging	Het
Invs	A	T	4: 48,421,725 (GRCm39)	R786W	possibly damaging	Het
Itfg1	T	G	8: 86,507,152 (GRCm39)	E236A	probably benign	Het
Jak3	A	T	8: 72,137,194 (GRCm39)	I752F	probably damaging	Het
Kcnip3	C	A	2: 127,306,985 (GRCm39)	G144W	probably damaging	Het
Kctd19	T	C	8: 106,109,598 (GRCm39)	H925R	probably benign	Het
Kdr	C	T	5: 76,107,511 (GRCm39)	A1011T	probably damaging	Het
Kif13b	C	A	14: 65,019,826 (GRCm39)	H1398Q	probably benign	Het
Lrp4	A	T	2: 91,307,864 (GRCm39)		probably null	Het
Lrtm2	T	C	6: 119,297,846 (GRCm39)	D65G	probably benign	Het
Lyz1	A	G	10: 117,128,715 (GRCm39)	L10P	probably damaging	Het
Metap2	A	T	10: 93,706,046 (GRCm39)	N245K	probably damaging	Het
Mms19	T	C	19: 41,943,270 (GRCm39)	D297G	possibly damaging	Het
Mtfr1l	A	G	4: 134,256,436 (GRCm39)	L243P	probably damaging	Het
Mtss1	A	G	15: 58,842,897 (GRCm39)	I105T	probably damaging	Het
Myo18a	T	C	11: 77,748,571 (GRCm39)	S1967P	probably damaging	Het
Ncor2	T	C	5: 125,100,585 (GRCm39)	N2248S	possibly damaging	Het
Nfatc2	T	C	2: 168,432,008 (GRCm39)	D35G	possibly damaging	Het
Nup210l	T	A	3: 90,067,252 (GRCm39)	M764K	probably benign	Het
Or10a3n	A	G	7: 108,492,948 (GRCm39)	L222P	probably damaging	Het
Otof	T	C	5: 30,529,256 (GRCm39)	S1753G	probably damaging	Het
Otog	G	A	7: 45,939,179 (GRCm39)	V2070I	probably benign	Het
Piezo2	A	G	18: 63,219,824 (GRCm39)	V961A	probably damaging	Het
Pofut1	C	T	2: 153,103,158 (GRCm39)	S169L	probably benign	Het
Ppp1r10	T	A	17: 36,240,335 (GRCm39)	S542T	possibly damaging	Het
Prpf8	T	C	11: 75,381,156 (GRCm39)	Y219H	possibly damaging	Het
Ptges3l	T	C	11: 101,312,731 (GRCm39)	D113G	possibly damaging	Het
Pycr3	G	A	15: 75,790,647 (GRCm39)	L71F	probably benign	Het
Ramp3	A	G	11: 6,624,867 (GRCm39)	K54E	possibly damaging	Het
Rbpms	C	A	8: 34,294,100 (GRCm39)	Q214H	possibly damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Robo4	C	A	9: 37,319,348 (GRCm39)	D565E	probably damaging	Het
S100a1	C	T	3: 90,418,641 (GRCm39)	V58I	probably benign	Het
Setx	T	A	2: 29,070,104 (GRCm39)	D2636E	probably benign	Het
Sun2	A	T	15: 79,612,669 (GRCm39)	V417E	probably damaging	Het
Tbccd1	T	C	16: 22,660,519 (GRCm39)	N99S	probably benign	Het
Tex15	A	G	8: 34,064,893 (GRCm39)	D1441G	probably benign	Het
Tmc2	T	A	2: 130,089,896 (GRCm39)	M627K	probably damaging	Het
Trim32	A	G	4: 65,532,628 (GRCm39)	Y395C	probably benign	Het
Trpm2	A	G	10: 77,759,398 (GRCm39)	Y1129H	probably damaging	Het
Trpm8	A	T	1: 88,275,813 (GRCm39)	R470S	probably damaging	Het
Tsg101	G	T	7: 46,539,372 (GRCm39)	D389E	probably benign	Het
Ubn1	T	C	16: 4,882,406 (GRCm39)	L46P	probably damaging	Het
Ubr5	T	C	15: 37,997,419 (GRCm39)	I1745V	possibly damaging	Het
Usp20	T	C	2: 30,901,797 (GRCm39)	Y521H	probably benign	Het
Vmn1r159	A	T	7: 22,543,019 (GRCm39)	H4Q	probably null	Het
Vmn2r27	T	A	6: 124,177,491 (GRCm39)	E504D	probably benign	Het
Wdr72	A	T	9: 74,086,867 (GRCm39)	I612F	probably benign	Het
Zbtb8a	T	C	4: 129,251,520 (GRCm39)	H317R	possibly damaging	Het
Zfp507	T	C	7: 35,494,315 (GRCm39)	S243G	probably damaging	Het
Zfp764	A	G	7: 127,005,419 (GRCm39)	W73R	probably damaging	Het
Zmym4	A	T	4: 126,819,632 (GRCm39)	D90E	probably damaging	Het

Other mutations in Mocs3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00340:Mocs3	APN	2	168,073,411 (GRCm39)	missense	possibly damaging	0.94
IGL01411:Mocs3	APN	2	168,073,297 (GRCm39)	missense	probably damaging	0.98
R0052:Mocs3	UTSW	2	168,073,602 (GRCm39)	missense	probably benign	0.03
R0100:Mocs3	UTSW	2	168,073,110 (GRCm39)	missense	probably damaging	1.00
R0367:Mocs3	UTSW	2	168,073,602 (GRCm39)	missense	probably benign	0.03
R0368:Mocs3	UTSW	2	168,073,602 (GRCm39)	missense	probably benign	0.03
R1651:Mocs3	UTSW	2	168,073,489 (GRCm39)	missense	probably damaging	0.98
R8100:Mocs3	UTSW	2	168,073,257 (GRCm39)	missense	possibly damaging	0.63
R8101:Mocs3	UTSW	2	168,073,801 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TTCGAGGGCCAGATGACCGTCTAC -3'
(R):5'- CCCCTAAGAGTTTCAGGCTGTCCG -3'

Sequencing Primer
(F):5'- TCGAGGTGCTCAAGATCGC -3'
(R):5'- TCAGGCTGTCCGCATCC -3'

Posted On

2014-01-15