Mutagenetix > Incidental Mutation

Incidental Mutation 'R7157:Mocs2'

557395

Institutional Source

Beutler Lab

Gene Symbol

Mocs2

Ensembl Gene

ENSMUSG00000015536

Gene Name

molybdenum cofactor synthesis 2

Synonyms

MMRRC Submission

045258-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7157 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

114954707-114965956 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 114961143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Leucine at position 47 (I47L)

Ref Sequence

ENSEMBL: ENSMUSP00000015680 (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
AA Change: I47L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000015680
Gene: ENSMUSG00000015536
AA Change: I47L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000164737
AA Change: I47L

PolyPhen 2 Score 0.235 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000133069
Gene: ENSMUSG00000015536
AA Change: I47L

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
AA Change: I47L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000131816
Gene: ENSMUSG00000015536
AA Change: I47L

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

SMART Domains

Protein: ENSMUSP00000128965
Gene: ENSMUSG00000015536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166104

SMART Domains

Protein: ENSMUSP00000129021
Gene: ENSMUSG00000015536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000166176
AA Change: I47L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000125797
Gene: ENSMUSG00000015536
AA Change: I47L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000183407

SMART Domains

Protein: ENSMUSP00000139011
Gene: ENSMUSG00000015536

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

SMART Domains

Protein: ENSMUSP00000139285
Gene: ENSMUSG00000015536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184245

SMART Domains

Protein: ENSMUSP00000139355
Gene: ENSMUSG00000015536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184335

SMART Domains

Protein: ENSMUSP00000139064
Gene: ENSMUSG00000015536

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184672
AA Change: I47L

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000139298
Gene: ENSMUSG00000015536
AA Change: I47L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000184781

SMART Domains

Protein: ENSMUSP00000138856
Gene: ENSMUSG00000015536

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

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: 65 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2610021A01Rik	G	A	7: 41,276,400 (GRCm39)	G701D	probably damaging	Het
6030468B19Rik	T	A	11: 117,693,780 (GRCm39)	N82K	probably damaging	Het
Abca17	A	T	17: 24,554,564 (GRCm39)	V130E	possibly damaging	Het
Alpk2	T	A	18: 65,399,348 (GRCm39)	K2077*	probably null	Het
Aox1	T	C	1: 58,322,651 (GRCm39)	F73S	probably benign	Het
Ap3b1	T	A	13: 94,668,542 (GRCm39)	C965*	probably null	Het
Arhgef10	T	A	8: 14,980,030 (GRCm39)	V90E	probably damaging	Het
Atr	T	A	9: 95,751,953 (GRCm39)	H523Q	probably benign	Het
Bicdl1	G	T	5: 115,789,916 (GRCm39)	Q511K	possibly damaging	Het
Capn15	A	T	17: 26,184,228 (GRCm39)	N150K	probably damaging	Het
Card6	A	T	15: 5,129,591 (GRCm39)	W602R	probably benign	Het
Clnk	A	T	5: 38,927,234 (GRCm39)	S82T	possibly damaging	Het
Cmah	T	C	13: 24,620,612 (GRCm39)	I282T	probably damaging	Het
Cog8	A	G	8: 107,779,131 (GRCm39)	I382T	probably benign	Het
Dhrs7c	G	T	11: 67,700,722 (GRCm39)		probably null	Het
Dhrs9	T	A	2: 69,223,502 (GRCm39)	D83E	probably damaging	Het
Dmac2l	A	T	12: 69,788,562 (GRCm39)	N154Y	probably benign	Het
Dmgdh	G	A	13: 93,852,043 (GRCm39)	G624E	probably damaging	Het
Dnajc30	C	A	5: 135,093,569 (GRCm39)	F155L	probably damaging	Het
Drc7	A	C	8: 95,800,778 (GRCm39)	K600T	probably damaging	Het
Efhb	A	C	17: 53,707,928 (GRCm39)	I745S	probably damaging	Het
Elp1	ACTTCTTCTTCTTCTTCTTCTTC	ACTTCTTCTTCTTCTTCTTC	4: 56,781,176 (GRCm39)		probably benign	Het
Fasn	T	A	11: 120,701,291 (GRCm39)	K1988*	probably null	Het
Gad2	T	C	2: 22,525,035 (GRCm39)	L273P	probably damaging	Het
Gm45861	A	T	8: 28,032,536 (GRCm39)	K887*	probably null	Het
Gm45861	A	T	8: 28,032,537 (GRCm39)	K887I	unknown	Het
Gm9195	A	G	14: 72,718,221 (GRCm39)	Y152H	probably damaging	Het
Grip1	G	A	10: 119,781,061 (GRCm39)	D237N	probably damaging	Het
Hamp	A	C	7: 30,641,961 (GRCm39)	C65G	possibly damaging	Het
Hes3	A	G	4: 152,372,581 (GRCm39)		probably benign	Het
Hgh1	T	C	15: 76,254,650 (GRCm39)	I342T	probably damaging	Het
Hlcs	T	A	16: 94,069,023 (GRCm39)	K66*	probably null	Het
Ift80	A	T	3: 68,898,277 (GRCm39)	C19*	probably null	Het
Kbtbd12	C	T	6: 88,595,650 (GRCm39)	C60Y	probably damaging	Het
Kdm4c	T	A	4: 74,263,804 (GRCm39)	V696E	probably benign	Het
Lect2	A	G	13: 56,690,803 (GRCm39)	I117T	unknown	Het
Lipn	T	A	19: 34,054,390 (GRCm39)	Y209*	probably null	Het
Lpin3	G	A	2: 160,740,627 (GRCm39)	V391I	probably benign	Het
Mogs	T	A	6: 83,095,488 (GRCm39)	H768Q	probably benign	Het
Nbeal1	T	A	1: 60,276,317 (GRCm39)	I686N	probably damaging	Het
Nbeal1	T	A	1: 60,299,793 (GRCm39)	C1376*	probably null	Het
Ninl	A	G	2: 150,791,263 (GRCm39)	Y1087H	possibly damaging	Het
Or10a3	A	G	7: 108,480,475 (GRCm39)	F113L	probably benign	Het
Or10ak14	A	G	4: 118,611,615 (GRCm39)	V42A	possibly damaging	Het
Or4k5	A	G	14: 50,385,689 (GRCm39)	L214S	probably damaging	Het
Or51b6b	A	C	7: 103,309,788 (GRCm39)	L223R	probably damaging	Het
Or6s1	A	G	14: 51,308,616 (GRCm39)	V78A	possibly damaging	Het
Or8k30	T	A	2: 86,339,369 (GRCm39)	C189S	probably damaging	Het
Pkn1	A	G	8: 84,398,363 (GRCm39)	F768S	probably damaging	Het
Plekha2	A	G	8: 25,553,957 (GRCm39)	F82L	probably damaging	Het
Ppie	T	C	4: 123,028,900 (GRCm39)	E111G	probably benign	Het
Rps6ka5	T	C	12: 100,547,679 (GRCm39)	Y277C	probably damaging	Het
Scgb2b12	A	G	7: 32,026,102 (GRCm39)	V30A	probably benign	Het
Serac1	A	T	17: 6,124,476 (GRCm39)	S16T	probably benign	Het
Sf3a3	T	C	4: 124,616,693 (GRCm39)	Y192H	probably damaging	Het
Slc14a1	A	G	18: 78,145,626 (GRCm39)	V436A	probably benign	Het
Smc3	T	A	19: 53,630,329 (GRCm39)	M1112K	probably damaging	Het
Tnk2	G	A	16: 32,499,986 (GRCm39)	G1017E	probably damaging	Het
Tnn	T	A	1: 159,953,947 (GRCm39)	K603*	probably null	Het
Trpm6	T	C	19: 18,815,462 (GRCm39)	S1183P	possibly damaging	Het
Ttn	A	T	2: 76,614,724 (GRCm39)	V16964E	possibly damaging	Het
Usp17le	G	A	7: 104,417,696 (GRCm39)	T482I	probably benign	Het
Vmn1r219	T	A	13: 23,347,525 (GRCm39)	M238K	probably damaging	Het
Wfs1	C	T	5: 37,124,516 (GRCm39)	G792S	probably benign	Het
Xpa	A	T	4: 46,185,612 (GRCm39)	L122Q	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
R6829:Mocs2	UTSW	13	114,955,980 (GRCm39)	missense	probably benign	0.01
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'- TGTAGATTCCCGAGGGAGTG -3'
(R):5'- TTTGGCTTGTCACTCAGTATTGTAC -3'

Sequencing Primer
(F):5'- ATTCCCGAGGGAGTGTAATAATTG -3'
(R):5'- GTCACTCAGTATTGTACATCCAAC -3'

Posted On

2019-06-26