Mutagenetix > Incidental Mutations

Incidental Mutation 'R6157:Mocs1'

489666

Institutional Source

Beutler Lab

Gene Symbol

Mocs1

Ensembl Gene

ENSMUSG00000064120

Gene Name

molybdenum cofactor synthesis 1

Synonyms

3110045D15Rik

MMRRC Submission

044304-MU

Accession Numbers

Is this an essential gene?

Essential (E-score: 1.000) question?

Stock #

R6157 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

49428362-49455435 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 49454736 bp

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 619 (E619D)

Ref Sequence

ENSEMBL: ENSMUSP00000133694 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000024797] [ENSMUST00000057610] [ENSMUST00000173033] [ENSMUST00000173362] [ENSMUST00000174647]

Predicted Effect

probably benign
Transcript: ENSMUST00000024797

SMART Domains

Protein: ENSMUSP00000024797
Gene: ENSMUSG00000064120

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

Predicted Effect

probably benign
Transcript: ENSMUST00000057610

SMART Domains

Protein: ENSMUSP00000052085
Gene: ENSMUSG00000040260

Domain	Start	End	E-Value	Type
Drf_GBD	40	228	4.89e-61	SMART
Drf_FH3	231	429	1.19e-73	SMART
Blast:FH2	476	513	4e-10	BLAST
low complexity region	514	534	N/A	INTRINSIC
low complexity region	539	576	N/A	INTRINSIC
FH2	595	1085	7.36e-99	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 benign
Transcript: ENSMUST00000173033
AA Change: E619D

PolyPhen 2 Score 0.064 (Sensitivity: 0.94; Specificity: 0.84)

SMART Domains

Protein: ENSMUSP00000133694
Gene: ENSMUSG00000064120
AA Change: E619D

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000224954

Meta Mutation Damage Score

0.0661

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.6%
20x: 93.1%

Validation Efficiency

93% (40/43)

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930407I10Rik	A	G	15: 82,063,416	K505E	possibly damaging	Het
Abcb1b	A	T	5: 8,824,245	N390I	possibly damaging	Het
Apob	A	T	12: 8,006,077	M1520L	probably benign	Het
Atg4c	C	T	4: 99,235,163	R396*	probably null	Het
Atp2a3	G	A	11: 72,980,616	V648M	probably damaging	Het
Blm	T	C	7: 80,512,985	D203G	probably benign	Het
Csrnp3	A	T	2: 65,949,019	D13V	probably damaging	Het
Dnajc10	A	T	2: 80,317,391		probably benign	Het
Dst	A	G	1: 34,211,172	Y1729C	probably damaging	Het
Ecsit	T	C	9: 22,074,691	Y213C	probably damaging	Het
Fer	A	G	17: 64,078,885	K654R	probably damaging	Het
Hdac9	G	T	12: 34,389,429	A383E	probably damaging	Het
Hltf	T	A	3: 20,076,496	S293T	probably benign	Het
Hrasls	A	G	16: 29,217,749	I46M	possibly damaging	Het
Hydin	T	A	8: 110,528,016	D2359E	probably benign	Het
Inf2	A	G	12: 112,604,788		probably benign	Het
Kcns2	A	G	15: 34,839,358	N289S	possibly damaging	Het
Meioc	T	C	11: 102,668,401	S50P	probably damaging	Het
Nfatc2	A	G	2: 168,519,451		probably benign	Het
Olfr640	T	A	7: 104,021,898	N140I	possibly damaging	Het
Pag1	A	T	3: 9,693,836	H407Q	probably benign	Het
Plcb3	G	A	19: 6,966,165	A122V	probably damaging	Het
Pld4	C	T	12: 112,768,101	T432I	probably damaging	Het
Psd3	T	G	8: 68,121,527	M1L	probably benign	Het
Rasgrp2	C	A	19: 6,402,501	L35I	probably damaging	Het
Ripor2	T	C	13: 24,701,069	L390P	probably damaging	Het
Rpgrip1	A	T	14: 52,112,174	E6D	probably benign	Het
Ryr3	A	T	2: 112,841,899	L1409Q	probably damaging	Het
Slc6a5	A	G	7: 49,951,502	T684A	probably benign	Het
Smpd4	G	T	16: 17,641,066		probably null	Het
Snx18	T	C	13: 113,617,189	S403G	probably damaging	Het
Spsb4	G	T	9: 96,996,107	H54Q	probably damaging	Het
Ssrp1	A	G	2: 85,040,728	Y236C	probably damaging	Het
Tctex1d2	G	A	16: 32,419,842	A12T	possibly damaging	Het
Tenm3	C	T	8: 48,298,808	S982N	probably damaging	Het
Tet1	A	G	10: 62,839,970	S776P	probably damaging	Het
Tln1	G	A	4: 43,534,744	P2166S	probably benign	Het
Ufl1	T	A	4: 25,279,350	Q83L	possibly damaging	Het
Unc80	A	T	1: 66,654,029	K2458*	probably null	Het
Ush2a	A	T	1: 188,728,270	Y2576F	probably benign	Het
Xrcc6	C	A	15: 82,029,104		probably null	Het
Zbtb48	A	G	4: 152,021,607	F380L	probably damaging	Het
Zfp534	C	T	4: 147,674,490	R574K	probably benign	Het

Other mutations in Mocs1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00331:Mocs1	APN	17	49435264	critical splice donor site	probably null
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
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
R8772:Mocs1	UTSW	17	49450374	critical splice donor site	probably null

Predicted Primers

PCR Primer
(F):5'- CTAACCAGTCAGTTGATCCCC -3'
(R):5'- CCTCACAGGTTAGTGGTAAAGAG -3'

Sequencing Primer
(F):5'- TGAGCCACGTGCAGGTACAC -3'
(R):5'- GACAGGGTGATCCTAGGTCTAATCAC -3'

Posted On

2017-10-10