Mutagenetix > Incidental Mutation

Incidental Mutation 'R6829:Mocs2'

534309

Institutional Source

Beutler Lab

Gene Symbol

Mocs2

Ensembl Gene

ENSMUSG00000015536

Gene Name

molybdenum cofactor synthesis 2

Synonyms

MMRRC Submission

044939-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R6829 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

114954707-114965956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 114955980 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Glycine at position 43 (S43G)

Ref Sequence

ENSEMBL: ENSMUSP00000138856 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000015680] [ENSMUST00000164737] [ENSMUST00000164871] [ENSMUST00000165022] [ENSMUST00000166104] [ENSMUST00000166176] [ENSMUST00000183407] [ENSMUST00000184046] [ENSMUST00000184214] [ENSMUST00000184245] [ENSMUST00000184335] [ENSMUST00000184672] [ENSMUST00000184781]

AlphaFold

no structure available at present

Predicted Effect

probably benign
Transcript: ENSMUST00000015680

SMART Domains

Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:MoaE	49	161	7.1e-43	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164737

SMART Domains

Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	97	3.1e-12	PFAM
Pfam:MoaE	94	130	7.2e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000164871

SMART Domains

Protein: ENSMUSP00000131816
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
PDB:4AP8\|D	38	75	1e-14	PDB
SCOP:d1fm0e_	44	75	1e-4	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000165022
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166104
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000166176

SMART Domains

Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	162	5.8e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000183407
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184046

Predicted Effect

probably benign
Transcript: ENSMUST00000184214
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184245
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184335
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184672

SMART Domains

Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536

Domain	Start	End	E-Value	Type
Pfam:MoaE	46	162	5.8e-42	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000184781
AA Change: S43G

PolyPhen 2 Score 0.007 (Sensitivity: 0.96; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536
AA Change: S43G

Domain	Start	End	E-Value	Type
Pfam:ThiS	9	88	1.1e-19	PFAM

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 98.2%

Validation Efficiency

98% (40/41)

MGI Phenotype

FUNCTION: Eukaryotic molybdoenzymes use a unique molybdenum cofactor (MoCo) consisting of a pterin, termed molybdopterin, and the catalytically active metal molybdenum. MoCo is synthesized from precursor Z by the heterodimeric enzyme molybdopterin synthase. The large and small subunits of molybdopterin synthase are both encoded from this gene by overlapping open reading frames. The proteins were initially thought to be encoded from a bicistronic transcript. Based on experiments with the human molybdopterin synthase ortholog, they are now thought to be encoded from monocistronic transcripts. Alternatively spliced transcripts have been found for this locus that encode the large and small subunits. [provided by RefSeq, Jul 2008]
PHENOTYPE: Nullizygous mice show inactivity of all molybdenum-dependent enzymes, slow weight gain, weakness, curly whiskers, hair growth and skin abnormalities, altered levels of purines, uric acid and S-sulfocysteine, bladder and kidney stone formation, increased neuronal apoptosis, and postnatal lethality. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam2	A	T	14: 66,265,446 (GRCm39)		probably null	Het
Adamts5	A	T	16: 85,666,959 (GRCm39)	M511K	possibly damaging	Het
Adcy9	A	G	16: 4,125,018 (GRCm39)		probably null	Het
Cast	T	C	13: 74,876,463 (GRCm39)	E113G	possibly damaging	Het
Ccdc198	A	G	14: 49,464,025 (GRCm39)	*295Q	probably null	Het
Dcaf1	T	A	9: 106,715,803 (GRCm39)	S307T	probably damaging	Het
Dmxl1	C	T	18: 50,054,091 (GRCm39)	P2566S	probably damaging	Het
Elac2	A	G	11: 64,880,190 (GRCm39)	E111G	probably benign	Het
Fbxw4	A	G	19: 45,624,813 (GRCm39)	F57S	possibly damaging	Het
Gm17655	T	G	5: 110,194,792 (GRCm39)	H330P	probably damaging	Het
Gm2a	T	C	11: 54,994,576 (GRCm39)		probably null	Het
Gon4l	T	A	3: 88,787,413 (GRCm39)	D600E	possibly damaging	Het
Gsg1l2	T	C	11: 67,665,684 (GRCm39)	I84T	possibly damaging	Het
Igsf9	A	G	1: 172,323,241 (GRCm39)	R652G	probably benign	Het
Il17rd	C	T	14: 26,809,379 (GRCm39)	R112*	probably null	Het
Jph1	C	A	1: 17,074,647 (GRCm39)	R457L	probably damaging	Het
Khdrbs3	T	C	15: 68,964,810 (GRCm39)	V249A	possibly damaging	Het
Myom2	T	A	8: 15,172,643 (GRCm39)	L1190*	probably null	Het
Or2w1	T	A	13: 21,317,023 (GRCm39)	I26N	possibly damaging	Het
Or4f62	G	C	2: 111,986,139 (GRCm39)		probably benign	Het
Or5ac16	A	G	16: 59,021,898 (GRCm39)	V297A	probably damaging	Het
Or8k33	A	T	2: 86,383,613 (GRCm39)	L285*	probably null	Het
Pgc	A	T	17: 48,043,706 (GRCm39)		probably null	Het
Plch1	T	G	3: 63,604,939 (GRCm39)	D1655A	probably damaging	Het
Pnliprp2	G	A	19: 58,748,305 (GRCm39)	G29R	probably benign	Het
Polg	A	G	7: 79,109,857 (GRCm39)	V382A	probably benign	Het
Rb1cc1	T	C	1: 6,319,488 (GRCm39)	I969T	probably benign	Het
Rsf1	CG	CGACGGCGGGG	7: 97,229,115 (GRCm39)		probably benign	Het
Sdf2l1	C	G	16: 16,950,158 (GRCm39)	R6P	probably benign	Het
Sema7a	A	G	9: 57,868,181 (GRCm39)	E538G	probably benign	Het
Slc2a2	C	T	3: 28,781,590 (GRCm39)	Q513*	probably null	Het
Slc4a8	A	G	15: 100,698,419 (GRCm39)	Y636C	probably damaging	Het
Tasor	A	G	14: 27,164,438 (GRCm39)	D248G	possibly damaging	Het
Trpm5	A	G	7: 142,623,166 (GRCm39)		probably benign	Het
Vmn1r14	T	C	6: 57,210,536 (GRCm39)	L38P	probably benign	Het
Washc4	T	C	10: 83,396,380 (GRCm39)	S397P	probably damaging	Het
Wfdc3	C	T	2: 164,576,178 (GRCm39)	G38R	possibly damaging	Het
Zan	A	G	5: 137,414,540 (GRCm39)		probably benign	Het
Zfhx3	C	T	8: 109,676,915 (GRCm39)	T2655M	probably damaging	Het

Other mutations in Mocs2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1605:Mocs2	UTSW	13	114,961,120 (GRCm39)	missense	probably benign	0.03
R1623:Mocs2	UTSW	13	114,961,158 (GRCm39)	missense	probably benign	0.02
R3881:Mocs2	UTSW	13	114,955,882 (GRCm39)	nonsense	probably null
R3957:Mocs2	UTSW	13	114,961,803 (GRCm39)	critical splice donor site	probably null
R4015:Mocs2	UTSW	13	114,957,334 (GRCm39)	splice site	probably benign
R5765:Mocs2	UTSW	13	114,962,692 (GRCm39)	critical splice acceptor site	probably null
R5781:Mocs2	UTSW	13	114,957,455 (GRCm39)	missense	probably damaging	1.00
R6750:Mocs2	UTSW	13	114,962,784 (GRCm39)	missense	probably damaging	0.98
R7157:Mocs2	UTSW	13	114,961,143 (GRCm39)	missense	probably benign	0.11
R7346:Mocs2	UTSW	13	114,964,710 (GRCm39)	splice site	probably null
R7428:Mocs2	UTSW	13	114,957,400 (GRCm39)	missense	probably benign	0.20
R7817:Mocs2	UTSW	13	114,957,382 (GRCm39)	missense	probably damaging	1.00
R8007:Mocs2	UTSW	13	114,957,409 (GRCm39)	missense	possibly damaging	0.57
R8836:Mocs2	UTSW	13	114,961,760 (GRCm39)	missense	possibly damaging	0.51
R8863:Mocs2	UTSW	13	114,962,815 (GRCm39)	missense	probably damaging	1.00
R9445:Mocs2	UTSW	13	114,961,879 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- CATTGCATTTGGGGAGCGAG -3'
(R):5'- AGAAGCATGTAGGGTCTGTTATAC -3'

Sequencing Primer
(F):5'- CGAGGAGCCTTCTTGGTGC -3'
(R):5'- ATATCTAGGGGGCATCCACTTGAC -3'

Posted On

2018-09-12