Mutagenetix > Incidental Mutation

Incidental Mutation 'R9181:Mocs1'

697048

Institutional Source

Beutler Lab

Gene Symbol

Mocs1

Ensembl Gene

ENSMUSG00000064120

Gene Name

molybdenum cofactor synthesis 1

Synonyms

3110045D15Rik

MMRRC Submission

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R9181 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49735390-49762463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49756801 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 261 (M261K)

Ref Sequence

ENSEMBL: ENSMUSP00000133694 (fasta)

Gene Model

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

AlphaFold

Q5RKZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000024797
AA Change: M261K

PolyPhen 2 Score 0.936 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
AA Change: M261K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000172871

SMART Domains

Protein: ENSMUSP00000134449
Gene: ENSMUSG00000064120

Domain	Start	End	E-Value	Type
Pfam:Mob_synth_C	1	86	8.6e-33	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000173033
AA Change: M261K

PolyPhen 2 Score 0.971 (Sensitivity: 0.77; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: M261K

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

probably benign
Transcript: ENSMUST00000173430

Predicted Effect

probably benign
Transcript: ENSMUST00000174647

Coding Region Coverage

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

Validation Efficiency

100% (53/53)

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcg3	G	T	5: 105,121,962 (GRCm39)	D138E	probably benign	Het
Acvr2a	T	A	2: 48,760,307 (GRCm39)	I21K	probably damaging	Het
Adam30	C	G	3: 98,070,194 (GRCm39)	P676A	probably benign	Het
Ankrd28	A	C	14: 31,470,627 (GRCm39)	H145Q	probably damaging	Het
Ap3m2	A	G	8: 23,289,774 (GRCm39)	Y110H	probably damaging	Het
Apoc4	A	G	7: 19,412,665 (GRCm39)	S27P	possibly damaging	Het
Bbs1	A	C	19: 4,941,070 (GRCm39)	L548R	possibly damaging	Het
Cfap99	A	T	5: 34,471,602 (GRCm39)	D346V	probably damaging	Het
Ckmt1	T	A	2: 121,189,870 (GRCm39)		probably benign	Het
Col13a1	T	C	10: 61,703,612 (GRCm39)	K436E	possibly damaging	Het
Col15a1	G	C	4: 47,288,200 (GRCm39)		probably benign	Het
Dbf4	A	G	5: 8,462,206 (GRCm39)	V105A	possibly damaging	Het
Disp2	T	A	2: 118,617,393 (GRCm39)	V129E	probably benign	Het
Dnah7b	T	C	1: 46,181,194 (GRCm39)	V1027A	probably damaging	Het
Dst	T	A	1: 34,231,818 (GRCm39)	I3137N	probably benign	Het
F5	A	G	1: 164,019,895 (GRCm39)	D790G	probably benign	Het
Fan1	A	G	7: 64,016,400 (GRCm39)	S575P	probably damaging	Het
Gemin5	C	T	11: 58,021,035 (GRCm39)	A1051T	probably benign	Het
Gsta4	A	G	9: 78,105,597 (GRCm39)	Y9C	probably damaging	Het
H2-M3	C	A	17: 37,583,172 (GRCm39)	A211E	probably damaging	Het
Ifna1	A	T	4: 88,768,453 (GRCm39)	M44L	probably benign	Het
Ildr2	A	T	1: 166,122,283 (GRCm39)	D242V	probably damaging	Het
Kif27	G	T	13: 58,492,543 (GRCm39)	Q199K	probably damaging	Het
Lmf1	T	A	17: 25,804,718 (GRCm39)	L132H	probably damaging	Het
Mbtd1	A	G	11: 93,803,241 (GRCm39)	N173S	probably benign	Het
Mettl25b	A	G	3: 87,835,392 (GRCm39)		probably benign	Het
Mgat4c	A	T	10: 102,225,123 (GRCm39)	N446Y	probably benign	Het
Minar1	A	G	9: 89,485,394 (GRCm39)	M1T	probably null	Het
Nlrp10	A	T	7: 108,524,108 (GRCm39)	F457L	probably damaging	Het
Nlrp4e	C	T	7: 23,061,270 (GRCm39)	R954*	probably null	Het
Or4s2	T	C	2: 88,473,348 (GRCm39)	M79T	probably benign	Het
Pigu	T	C	2: 155,141,109 (GRCm39)	I261M	probably damaging	Het
Pkd1l3	T	A	8: 110,375,318 (GRCm39)	I1576N	probably damaging	Het
Plekhg6	A	C	6: 125,355,854 (GRCm39)		probably benign	Het
Pmpca	T	C	2: 26,283,365 (GRCm39)	L388P	probably damaging	Het
Polg	A	T	7: 79,104,421 (GRCm39)	I818N	probably damaging	Het
Pramel46	A	T	5: 95,418,414 (GRCm39)	V194D	probably benign	Het
Radil	A	G	5: 142,480,722 (GRCm39)	Y578H	probably damaging	Het
Retnlb	A	G	16: 48,639,084 (GRCm39)	D95G	probably damaging	Het
Rufy2	A	T	10: 62,836,166 (GRCm39)	Y365F	possibly damaging	Het
Ssc5d	A	G	7: 4,945,814 (GRCm39)	T949A	possibly damaging	Het
Svil	C	A	18: 5,090,833 (GRCm39)	R1312S	possibly damaging	Het
Syne1	T	C	10: 5,063,994 (GRCm39)	T7142A	probably damaging	Het
Tert	A	T	13: 73,785,294 (GRCm39)		probably benign	Het
Tpbgl	A	T	7: 99,274,776 (GRCm39)	D360E	probably damaging	Het
Traj13	G	A	14: 54,443,248 (GRCm39)	V17I	unknown	Het
Trim13	G	A	14: 61,842,046 (GRCm39)	R21Q	possibly damaging	Het
Wdr36	T	C	18: 32,981,382 (GRCm39)	V357A	possibly damaging	Het
Xdh	G	A	17: 74,232,006 (GRCm39)	R235C	probably damaging	Het
Zfp971	T	C	2: 177,674,736 (GRCm39)	F112L	probably damaging	Het
Znfx1	C	T	2: 166,879,738 (GRCm39)	C1546Y	probably damaging	Het
Znfx1	T	A	2: 166,880,137 (GRCm39)	E1413V	probably benign	Het
Zscan4c	A	G	7: 10,743,741 (GRCm39)	M447V	probably benign	Het
Zyx	T	A	6: 42,334,818 (GRCm39)	D541E	probably damaging	Het

Other mutations in Mocs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Mocs1	APN	17	49,742,292 (GRCm39)	critical splice donor site	probably null
IGL00473:Mocs1	APN	17	49,740,229 (GRCm39)	missense	probably benign	0.01
IGL01565:Mocs1	APN	17	49,759,348 (GRCm39)	missense	probably benign	0.00
IGL02822:Mocs1	APN	17	49,746,597 (GRCm39)	missense	probably damaging	1.00
R0321:Mocs1	UTSW	17	49,740,286 (GRCm39)	missense	probably damaging	1.00
R1313:Mocs1	UTSW	17	49,761,297 (GRCm39)	missense	probably benign	0.00
R1313:Mocs1	UTSW	17	49,761,297 (GRCm39)	missense	probably benign	0.00
R2155:Mocs1	UTSW	17	49,761,386 (GRCm39)	missense	probably damaging	1.00
R2271:Mocs1	UTSW	17	49,756,137 (GRCm39)	missense	probably damaging	1.00
R2398:Mocs1	UTSW	17	49,759,862 (GRCm39)	missense	probably damaging	0.99
R4669:Mocs1	UTSW	17	49,761,613 (GRCm39)	missense	possibly damaging	0.67
R5566:Mocs1	UTSW	17	49,761,211 (GRCm39)	missense	possibly damaging	0.92
R5751:Mocs1	UTSW	17	49,756,766 (GRCm39)	splice site	probably null
R6061:Mocs1	UTSW	17	49,757,341 (GRCm39)	missense	probably damaging	1.00
R6157:Mocs1	UTSW	17	49,761,764 (GRCm39)	missense	probably benign	0.06
R6212:Mocs1	UTSW	17	49,742,224 (GRCm39)	missense	probably damaging	1.00
R6268:Mocs1	UTSW	17	49,742,183 (GRCm39)	missense	probably damaging	1.00
R7047:Mocs1	UTSW	17	49,759,887 (GRCm39)	critical splice donor site	probably null
R7270:Mocs1	UTSW	17	49,756,143 (GRCm39)	missense	possibly damaging	0.83
R7395:Mocs1	UTSW	17	49,761,585 (GRCm39)	missense	possibly damaging	0.56
R7522:Mocs1	UTSW	17	49,742,292 (GRCm39)	critical splice donor site	probably null
R7872:Mocs1	UTSW	17	49,746,561 (GRCm39)	missense	probably damaging	1.00
R7953:Mocs1	UTSW	17	49,761,799 (GRCm39)	missense	possibly damaging	0.92
R7954:Mocs1	UTSW	17	49,761,799 (GRCm39)	missense	possibly damaging	0.92
R8119:Mocs1	UTSW	17	49,756,547 (GRCm39)	missense	probably damaging	1.00
R8772:Mocs1	UTSW	17	49,757,402 (GRCm39)	critical splice donor site	probably null
R9007:Mocs1	UTSW	17	49,756,819 (GRCm39)	missense	probably damaging	1.00
R9179:Mocs1	UTSW	17	49,740,303 (GRCm39)	missense	probably damaging	0.98

Predicted Primers

PCR Primer
(F):5'- GCCATTTGACGGTGAGTGAC -3'
(R):5'- TGCTACACTCTGAGCTCACAG -3'

Sequencing Primer
(F):5'- CATTTGACGGTGAGTGACAAGGG -3'
(R):5'- GCTCACAGCAGCACCCC -3'

Posted On

2022-02-07