Mutagenetix > Incidental Mutation

Incidental Mutation 'R7270:Mocs1'

565264

Institutional Source

Beutler Lab

Gene Symbol

Mocs1

Ensembl Gene

ENSMUSG00000064120

Gene Name

molybdenum cofactor synthesis 1

Synonyms

3110045D15Rik

MMRRC Submission

045390-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R7270 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

49735390-49762463 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 49756143 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 200 (M200K)

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: M200K

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120
AA Change: M200K

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

possibly damaging
Transcript: ENSMUST00000173033
AA Change: M200K

PolyPhen 2 Score 0.830 (Sensitivity: 0.84; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: M200K

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

Predicted Effect

probably null
Transcript: ENSMUST00000173362
AA Change: Y203*

SMART Domains

Protein: ENSMUSP00000134265
Gene: ENSMUSG00000064120
AA Change: Y203*

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: 99.9%
10x: 99.7%
20x: 99.0%

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: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Afg1l	A	T	10: 42,301,245 (GRCm39)	Y193N	probably damaging	Het
Ahnak2	A	T	12: 112,780,802 (GRCm38)	V70E		Het
Aimp1	T	C	3: 132,382,772 (GRCm39)	K44E	probably damaging	Het
Arid1b	T	A	17: 5,046,318 (GRCm39)	Y369N	unknown	Het
Art5	A	T	7: 101,747,080 (GRCm39)	V233D	probably damaging	Het
Baz2b	T	A	2: 59,792,836 (GRCm39)	N431Y	possibly damaging	Het
Bik	T	A	15: 83,428,364 (GRCm39)	F131I	possibly damaging	Het
Bmpr1a	A	G	14: 34,163,082 (GRCm39)	Y103H	probably damaging	Het
Cabp7	C	T	11: 4,696,676 (GRCm39)	V18M	possibly damaging	Het
Cacna1a	C	A	8: 85,297,866 (GRCm39)	T1240N	probably damaging	Het
Cacna1h	A	G	17: 25,603,739 (GRCm39)	V1311A	probably damaging	Het
Cbarp	A	C	10: 79,973,151 (GRCm39)	S16A	possibly damaging	Het
Ccng2	C	G	5: 93,421,202 (GRCm39)	S237R	probably benign	Het
Ces2b	A	T	8: 105,564,472 (GRCm39)	H494L	possibly damaging	Het
Cfap43	T	A	19: 47,728,224 (GRCm39)	H1511L	possibly damaging	Het
Cfap54	A	G	10: 92,675,320 (GRCm39)	V2867A	probably benign	Het
Col5a1	C	T	2: 27,887,597 (GRCm39)	P956L	unknown	Het
Dcakd	T	G	11: 102,891,032 (GRCm39)	Q19P	possibly damaging	Het
Ddx47	T	A	6: 135,000,301 (GRCm39)	D432E	probably benign	Het
Dhrs7b	T	C	11: 60,735,055 (GRCm39)	F29L	probably benign	Het
Dis3l2	A	T	1: 86,918,025 (GRCm39)	D558V	possibly damaging	Het
Dtx3l	T	A	16: 35,754,027 (GRCm39)	D193V	probably damaging	Het
Eif1ad12	T	C	12: 87,541,663 (GRCm39)	L58P	probably damaging	Het
Epha4	G	A	1: 77,376,422 (GRCm39)	R486C	probably damaging	Het
Fam186a	T	C	15: 99,842,033 (GRCm39)	T1404A	possibly damaging	Het
Fat1	A	G	8: 45,490,475 (GRCm39)	T3796A	probably damaging	Het
Ffar2	A	T	7: 30,518,929 (GRCm39)	W204R	probably benign	Het
Ftmt	A	G	18: 52,465,091 (GRCm39)	I136V	probably benign	Het
Gm10300	T	C	4: 131,802,167 (GRCm39)	W54R	unknown	Het
Gm10518	C	T	1: 179,630,949 (GRCm39)	P3L	unknown	Het
Grm2	G	A	9: 106,528,257 (GRCm39)	T209M	probably damaging	Het
Gtdc1	C	T	2: 44,525,322 (GRCm39)	M176I	probably benign	Het
Insrr	T	C	3: 87,710,440 (GRCm39)	L382P	probably damaging	Het
Jade2	A	G	11: 51,708,011 (GRCm39)	V734A	possibly damaging	Het
Kcnh4	C	T	11: 100,638,472 (GRCm39)	R586H	probably benign	Het
Kdm1a	A	T	4: 136,279,838 (GRCm39)	D721E	probably damaging	Het
Knl1	G	A	2: 118,933,003 (GRCm39)	C2054Y	possibly damaging	Het
Lrrk2	C	T	15: 91,584,644 (GRCm39)	P354S	probably benign	Het
Luzp2	A	G	7: 54,724,774 (GRCm39)	I112V	probably damaging	Het
Mgl2	T	C	11: 70,026,506 (GRCm39)	S105P	probably damaging	Het
Oat	T	A	7: 132,168,927 (GRCm39)	I98L	probably benign	Het
Obscn	T	C	11: 58,920,312 (GRCm39)	Y8C		Het
Or5b108	G	A	19: 13,168,768 (GRCm39)	V246I	possibly damaging	Het
Or6c1b	T	G	10: 129,273,319 (GRCm39)	F213V	probably benign	Het
Pde1b	T	A	15: 103,430,082 (GRCm39)	M137K	possibly damaging	Het
Phf21a	T	C	2: 92,157,484 (GRCm39)	I204T	probably damaging	Het
Plcd4	A	G	1: 74,593,838 (GRCm39)	E321G	possibly damaging	Het
Plpp7	C	T	2: 31,985,662 (GRCm39)		probably benign	Het
Prdm1	A	G	10: 44,317,566 (GRCm39)	I419T	probably benign	Het
Sec16b	A	T	1: 157,392,032 (GRCm39)	R855W	probably damaging	Het
Sec16b	G	T	1: 157,392,033 (GRCm39)	R855M	probably damaging	Het
Sec31b	T	C	19: 44,511,482 (GRCm39)	T640A	probably benign	Het
Siglec1	T	C	2: 130,923,471 (GRCm39)	T425A	possibly damaging	Het
Sirpd	A	T	3: 15,385,704 (GRCm39)	I66N	probably benign	Het
Skil	T	C	3: 31,151,324 (GRCm39)		probably benign	Het
Slc1a5	G	A	7: 16,519,623 (GRCm39)	V200M	probably damaging	Het
Slc25a12	T	C	2: 71,154,369 (GRCm39)	H139R	probably benign	Het
Slc25a32	A	T	15: 38,961,630 (GRCm39)	V187D	probably damaging	Het
Slc35a3	G	A	3: 116,505,455 (GRCm39)		probably benign	Het
Smap2	C	A	4: 120,829,264 (GRCm39)	M328I	probably benign	Het
Spef2	C	T	15: 9,600,066 (GRCm39)		probably null	Het
Srarp	A	G	4: 141,160,389 (GRCm39)	V148A	possibly damaging	Het
Stard9	T	A	2: 120,464,755 (GRCm39)	Y73*	probably null	Het
Tars1	A	G	15: 11,392,105 (GRCm39)	C236R	probably benign	Het
Tchh	G	C	3: 93,351,837 (GRCm39)	D426H	unknown	Het
Tnks2	T	C	19: 36,836,545 (GRCm39)	F17S		Het
Ube2g1	T	C	11: 72,553,939 (GRCm39)	I30T	possibly damaging	Het
Ube2o	C	T	11: 116,434,761 (GRCm39)	D567N	possibly damaging	Het
Unc5b	A	T	10: 60,608,002 (GRCm39)	Y710*	probably null	Het
Vmn1r215	T	C	13: 23,260,089 (GRCm39)	V43A	possibly damaging	Het
Xkr8	A	G	4: 132,455,648 (GRCm39)	F242L	probably benign	Het
Zfp526	T	A	7: 24,925,345 (GRCm39)	C535S	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
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
R9181:Mocs1	UTSW	17	49,756,801 (GRCm39)	missense	probably damaging	0.97

Predicted Primers

PCR Primer
(F):5'- AGACTCATGTCATATACCATGTCTGG -3'
(R):5'- TTGGCTCTTGACACCCAGTG -3'

Sequencing Primer
(F):5'- ATGTCTGGGAGCTGCCTC -3'
(R):5'- ACACCCAGTGTTCCAGAGG -3'

Posted On

2019-06-26