Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL00331:Mocs1'

5754

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mocs1

Ensembl Gene

ENSMUSG00000064120

Gene Name

molybdenum cofactor synthesis 1

Synonyms

3110045D15Rik

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL00331

Quality Score

Status

Chromosome

Chromosomal Location

49428362-49455435 bp(+) (GRCm38)

Type of Mutation

critical splice donor site (2 bp from exon)

DNA Base Change (assembly)

T to G at 49435264 bp

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000133694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024797] [ENSMUST00000165390] [ENSMUST00000173033] [ENSMUST00000173362] [ENSMUST00000174647]

Predicted Effect

probably null
Transcript: ENSMUST00000024797

SMART Domains

Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120

Domain	Start	End	E-Value	Type
Elp3	70	273	1.63e-8	SMART

Predicted Effect

probably null
Transcript: ENSMUST00000165390

SMART Domains

Protein: ENSMUSP00000132371
Gene: ENSMUSG00000064120

Domain	Start	End	E-Value	Type
Pfam:Fer4_12	67	142	8.8e-9	PFAM
Pfam:Fer4_14	74	141	5.8e-8	PFAM
Pfam:Radical_SAM	74	143	2.2e-13	PFAM

Predicted Effect

probably null
Transcript: ENSMUST00000173033

SMART Domains

Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120

Domain	Start	End	E-Value	Type
Elp3	70	273	1.63e-8	SMART
Pfam:MoaC	493	628	6.1e-49	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000173362

SMART Domains

Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120

Domain	Start	End	E-Value	Type
Pfam:Fer4_12	67	197	5.8e-11	PFAM
Pfam:Radical_SAM	74	199	2.5e-22	PFAM
Pfam:Fer4_14	75	180	2.5e-9	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000174268

Predicted Effect

probably benign
Transcript: ENSMUST00000174647

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Homozygotes for a targeted null mutation lack the cofactor molybdopterin and enzyme activities dependent on the cofactor (including sulfate oxidase and xanthine oxidase), have curly whiskers, and die between postnatal days 1 and 11. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aamp	C	A	1: 74,281,436		probably benign	Het
Adamts19	T	A	18: 59,007,325		probably benign	Het
Afg3l1	T	A	8: 123,487,389	F190I	probably benign	Het
Alms1	T	A	6: 85,641,371	S2800T	possibly damaging	Het
Alox5	A	T	6: 116,415,517	W348R	probably damaging	Het
Atp13a5	G	A	16: 29,267,014	Q823*	probably null	Het
Atp6v1b2	T	C	8: 69,088,934		probably null	Het
Chuk	T	C	19: 44,088,023	I416M	possibly damaging	Het
Dmbt1	A	T	7: 131,099,290	Q1066L	possibly damaging	Het
Dnah5	A	G	15: 28,421,620	T3873A	probably damaging	Het
Endog	C	T	2: 30,172,900	T184M	probably damaging	Het
Fam166b	G	A	4: 43,428,158	R100W	possibly damaging	Het
Fcgbp	T	C	7: 28,101,541		probably benign	Het
Flii	A	G	11: 60,715,833	I1061T	probably benign	Het
Hdac2	T	A	10: 36,997,071	N308K	probably damaging	Het
Hoxa2	T	G	6: 52,163,517	Y163S	probably damaging	Het
Hsd3b7	T	C	7: 127,802,972	L263P	probably damaging	Het
Klf17	T	C	4: 117,761,038	T41A	probably benign	Het
Lrrfip1	T	C	1: 91,068,621	M42T	probably damaging	Het
Mapk8ip1	C	T	2: 92,385,188	V614I	probably benign	Het
Moxd1	T	C	10: 24,282,555		probably benign	Het
Mterf1a	T	C	5: 3,891,610	E86G	probably damaging	Het
Muc4	A	G	16: 32,753,185	D1021G	probably benign	Het
Nomo1	T	C	7: 46,045,336	S212P	possibly damaging	Het
Olfr1471	A	G	19: 13,445,624	D204G	probably benign	Het
Olfr893	T	A	9: 38,209,238	Y60N	probably damaging	Het
Phf21a	A	C	2: 92,348,029	T385P	probably damaging	Het
Piwil4	A	T	9: 14,715,031		probably benign	Het
Pknox1	T	C	17: 31,599,645		probably null	Het
Prr14l	T	C	5: 32,831,066	I362V	probably benign	Het
Sergef	C	T	7: 46,635,420		probably null	Het
Sez6l	T	C	5: 112,424,645	D948G	probably damaging	Het
Skor1	A	T	9: 63,146,441	L54Q	probably damaging	Het
Sntn	C	T	14: 13,679,086	Q87*	probably null	Het
Syde2	A	G	3: 146,014,341	K772E	possibly damaging	Het
Taf2	T	A	15: 55,071,449		probably null	Het
Tbc1d13	T	A	2: 30,140,511	Y113N	probably damaging	Het
Tmem154	T	C	3: 84,684,415	F91L	probably benign	Het
Tmem63a	A	G	1: 180,966,497	D533G	possibly damaging	Het
Tmprss15	A	T	16: 78,985,994	N712K	possibly damaging	Het
Trip12	A	T	1: 84,730,541	D603E	probably damaging	Het
Trmt11	T	C	10: 30,566,449	D246G	probably damaging	Het
Vmn1r174	T	A	7: 23,754,533	M208K	possibly damaging	Het
Wdr54	T	C	6: 83,155,773	H33R	probably benign	Het
Zfp207	A	G	11: 80,389,002	D111G	probably benign	Het

Other mutations in Mocs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00473:Mocs1	APN	17	49433201	missense	probably benign	0.01
IGL01565:Mocs1	APN	17	49452320	missense	probably benign	0.00
IGL02822:Mocs1	APN	17	49439569	missense	probably damaging	1.00
R0321:Mocs1	UTSW	17	49433258	missense	probably damaging	1.00
R1313:Mocs1	UTSW	17	49454269	missense	probably benign	0.00
R1313:Mocs1	UTSW	17	49454269	missense	probably benign	0.00
R2155:Mocs1	UTSW	17	49454358	missense	probably damaging	1.00
R2271:Mocs1	UTSW	17	49449109	missense	probably damaging	1.00
R2398:Mocs1	UTSW	17	49452834	missense	probably damaging	0.99
R4669:Mocs1	UTSW	17	49454585	missense	possibly damaging	0.67
R5566:Mocs1	UTSW	17	49454183	missense	possibly damaging	0.92
R5751:Mocs1	UTSW	17	49449738	splice site	probably null
R6061:Mocs1	UTSW	17	49450313	missense	probably damaging	1.00
R6157:Mocs1	UTSW	17	49454736	missense	probably benign	0.06
R6212:Mocs1	UTSW	17	49435196	missense	probably damaging	1.00
R6268:Mocs1	UTSW	17	49435155	missense	probably damaging	1.00
R7047:Mocs1	UTSW	17	49452859	critical splice donor site	probably null
R7270:Mocs1	UTSW	17	49449115	missense	possibly damaging	0.83
R7395:Mocs1	UTSW	17	49454557	missense	possibly damaging	0.56
R7522:Mocs1	UTSW	17	49435264	critical splice donor site	probably null
R7872:Mocs1	UTSW	17	49439533	missense	probably damaging	1.00
R7953:Mocs1	UTSW	17	49454771	missense	possibly damaging	0.92
R7954:Mocs1	UTSW	17	49454771	missense	possibly damaging	0.92
R8119:Mocs1	UTSW	17	49449519	missense	probably damaging	1.00

Posted On

2012-04-20