Mutagenetix > Incidental Mutations

Incidental Mutation 'R8073:Moxd1'

620356

Institutional Source

Beutler Lab

Gene Symbol

Moxd1

Ensembl Gene

ENSMUSG00000020000

Gene Name

monooxygenase, DBH-like 1

Synonyms

3230402N08Rik

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8073 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

24223517-24302790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 24252950 bp

Zygosity

Heterozygous

Amino Acid Change

Glycine to Cysteine at position 200 (G200C)

Ref Sequence

ENSEMBL: ENSMUSP00000093460 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000095784]

Predicted Effect

probably damaging
Transcript: ENSMUST00000095784
AA Change: G200C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: G200C

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
DoH	59	148	7.89e-15	SMART
Pfam:Cu2_monooxygen	186	315	2.7e-50	PFAM
Pfam:Cu2_monoox_C	334	491	2.1e-48	PFAM
low complexity region	602	613	N/A	INTRINSIC

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago1	C	T	4: 126,443,226	V533I	probably benign	Het
Akap3	A	T	6: 126,865,773	T452S	probably damaging	Het
Angpt1	C	T	15: 42,438,303	M436I	probably benign	Het
B3galt4	T	C	17: 33,950,823	K147R	probably damaging	Het
Birc6	C	A	17: 74,603,085	T1491K	probably damaging	Het
Boll	T	C	1: 55,355,722		probably benign	Het
C6	T	C	15: 4,735,193	F124L	probably benign	Het
Camta1	T	C	4: 151,078,824	Y436C	probably damaging	Het
Celsr1	T	C	15: 85,939,155	N1684S	probably benign	Het
Cflar	T	C	1: 58,752,822	L428P		Het
Clk4	T	C	11: 51,277,889	I363T	probably benign	Het
Cnst	A	G	1: 179,606,437	T273A	probably benign	Het
Col5a1	C	T	2: 27,962,129	A546V	possibly damaging	Het
Col6a6	T	A	9: 105,781,947	N600Y	probably benign	Het
Cxadr	A	G	16: 78,333,413	N156S	probably benign	Het
Diaph1	C	T	18: 37,891,797	G537E	unknown	Het
Dmxl1	T	A	18: 49,878,433	V1219D	probably damaging	Het
Dnajb12	T	A	10: 59,890,179	Y95*	probably null	Het
Dnajc5g	A	G	5: 31,111,685	T137A	probably benign	Het
Dpy19l3	G	A	7: 35,729,748	T89M	probably damaging	Het
Dusp19	C	A	2: 80,617,484	T34N	probably benign	Het
Eln	CTCCAGCTCCGAT	C	5: 134,729,149		probably benign	Het
Enpp1	A	G	10: 24,679,244	V68A	possibly damaging	Het
Epha7	T	A	4: 28,821,022	D62E	probably damaging	Het
Frmd4b	A	T	6: 97,306,713	V445E	probably benign	Het
Gp9	A	C	6: 87,779,354	D117A	probably benign	Het
Haao	T	C	17: 83,835,220	E152G	possibly damaging	Het
Ighd	A	G	12: 113,416,169	S52P	probably benign	Het
Ikzf3	T	C	11: 98,467,429	K361E	probably benign	Het
Lgi2	T	A	5: 52,546,671	E206V	probably benign	Het
Mfsd11	T	A	11: 116,863,923	V220E	probably benign	Het
Mthfd1l	C	A	10: 3,973,417	Q55K	probably benign	Het
Nlrp9a	T	A	7: 26,560,835	L672M	probably damaging	Het
Npvf	A	C	6: 50,654,369	F9V	probably damaging	Het
Nup205	G	T	6: 35,202,169		probably null	Het
Nup43	T	C	10: 7,670,949	V111A	probably benign	Het
Obscn	C	T	11: 59,135,690	R229H	probably benign	Het
Olfml2a	C	A	2: 38,957,754	R442S	probably damaging	Het
Olfr12	T	A	1: 92,620,084	D59E	probably damaging	Het
Olfr1225	T	A	2: 89,170,940	I91F	probably damaging	Het
Olfr1445	T	A	19: 12,884,616	V245E	probably benign	Het
Olfr418	A	G	1: 173,270,985	D270G	probably benign	Het
Olfr698	C	A	7: 106,752,801	E196*	probably null	Het
Pcdhga7	T	C	18: 37,715,345	F135S	probably damaging	Het
Pde4a	A	T	9: 21,210,769	I654F	probably damaging	Het
Pip5kl1	G	A	2: 32,583,428	R359Q	possibly damaging	Het
Ppp2ca	T	C	11: 52,119,297	V244A	possibly damaging	Het
Qrich1	T	A	9: 108,534,428	L384H	possibly damaging	Het
Rab4a	T	C	8: 123,827,396	V62A	possibly damaging	Het
Ranbp10	A	G	8: 105,786,629	L217P	probably damaging	Het
Rhebl1	C	T	15: 98,878,524	A131T	probably benign	Het
Rnf150	A	T	8: 82,863,917		probably benign	Het
Slc32a1	G	A	2: 158,614,765	A447T	probably damaging	Het
Spag5	T	A	11: 78,301,977	M45K	probably benign	Het
Spata13	A	G	14: 60,691,256	N88D	probably damaging	Het
Spred2	C	A	11: 20,008,422	T128N	probably benign	Het
Tenm2	T	C	11: 36,139,644	E776G	possibly damaging	Het
Tet1	C	G	10: 62,813,353	E156Q	probably damaging	Het
Tmc1	T	C	19: 20,868,361	N166S	probably benign	Het
Trim43a	C	A	9: 88,582,437	Q134K	possibly damaging	Het
Tsks	A	T	7: 44,957,881	M543L	probably benign	Het
Ttc30a2	A	G	2: 75,976,653	V505A	probably damaging	Het
Ttn	T	C	2: 76,743,837	K25571E	probably damaging	Het
Vamp5	C	A	6: 72,380,453		probably benign	Het
Vmn2r79	A	T	7: 87,002,254	Q287L	probably benign	Het
Zfp326	T	A	5: 105,914,816	V517E	unknown	Het
Zfp467	A	T	6: 48,438,025	H564Q	probably damaging	Het
Zfp51	G	A	17: 21,464,032	C303Y	probably damaging	Het

Other mutations in Moxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Moxd1	APN	10	24279864	missense	probably damaging	1.00
IGL00227:Moxd1	APN	10	24282593	missense	probably damaging	1.00
IGL00331:Moxd1	APN	10	24282555	splice site	probably benign
IGL01074:Moxd1	APN	10	24279384	missense	probably benign	0.45
IGL01462:Moxd1	APN	10	24244388	critical splice donor site	probably null
IGL01777:Moxd1	APN	10	24252596	missense	probably benign	0.00
IGL02051:Moxd1	APN	10	24253018	splice site	probably null
IGL02272:Moxd1	APN	10	24282700	nonsense	probably null
IGL02343:Moxd1	APN	10	24279864	missense	probably damaging	1.00
IGL02425:Moxd1	APN	10	24279436	missense	probably benign	0.01
IGL02448:Moxd1	APN	10	24282719	missense	probably damaging	0.99
IGL02452:Moxd1	APN	10	24282752	missense	probably damaging	1.00
IGL03301:Moxd1	APN	10	24279484	missense	probably damaging	0.99
R0631:Moxd1	UTSW	10	24252954	missense	probably damaging	1.00
R1436:Moxd1	UTSW	10	24244358	missense	probably damaging	1.00
R1484:Moxd1	UTSW	10	24223860	missense	probably damaging	1.00
R1574:Moxd1	UTSW	10	24300319	missense	probably damaging	1.00
R1574:Moxd1	UTSW	10	24300319	missense	probably damaging	1.00
R1713:Moxd1	UTSW	10	24281496	missense	probably damaging	1.00
R1954:Moxd1	UTSW	10	24279883	missense	probably benign	0.17
R3115:Moxd1	UTSW	10	24301531	nonsense	probably null
R3116:Moxd1	UTSW	10	24301531	nonsense	probably null
R5183:Moxd1	UTSW	10	24279547	critical splice donor site	probably null
R5183:Moxd1	UTSW	10	24287136	missense	probably damaging	1.00
R5322:Moxd1	UTSW	10	24244253	missense	possibly damaging	0.88
R5728:Moxd1	UTSW	10	24223683	missense	possibly damaging	0.92
R5824:Moxd1	UTSW	10	24287097	missense	probably damaging	1.00
R6158:Moxd1	UTSW	10	24284777	missense	probably damaging	1.00
R6322:Moxd1	UTSW	10	24284811	missense	probably damaging	1.00
R6662:Moxd1	UTSW	10	24284760	missense	probably damaging	1.00
R6827:Moxd1	UTSW	10	24279850	missense	probably benign	0.29
R6928:Moxd1	UTSW	10	24300288	missense	probably damaging	1.00
R7048:Moxd1	UTSW	10	24281476	missense	probably damaging	1.00
R7320:Moxd1	UTSW	10	24301465	missense	probably benign	0.05
R7736:Moxd1	UTSW	10	24282710	missense	probably damaging	1.00
R8060:Moxd1	UTSW	10	24301612	missense	unknown
X0063:Moxd1	UTSW	10	24252500	missense	probably benign	0.18
Z1177:Moxd1	UTSW	10	24284804	missense	probably benign

Predicted Primers

Posted On

2020-01-23