Mutagenetix > Incidental Mutations

Incidental Mutation 'R6662:Moxd1'

528027

Institutional Source

Beutler Lab

Gene Symbol

Moxd1

Ensembl Gene

ENSMUSG00000020000

Gene Name

monooxygenase, DBH-like 1

Synonyms

3230402N08Rik

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6662 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

24223517-24302790 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 24284760 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Alanine at position 437 (D437A)

Ref Sequence

ENSEMBL: ENSMUSP00000093460 (fasta)

Gene Model

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

AlphaFold

Q9CXI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000095784
AA Change: D437A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: D437A

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: 99.9%
3x: 99.6%
10x: 98.2%
20x: 94.8%

Validation Efficiency

100% (46/46)

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ablim1	A	G	19: 57,073,853		probably null	Het
Acox1	A	G	11: 116,175,323	Y418H	probably damaging	Het
Akr1b3	C	T	6: 34,310,004	V206M	possibly damaging	Het
Aldh3a1	G	A	11: 61,214,655	V196I	probably benign	Het
Aox3	A	G	1: 58,118,615	K44E	probably damaging	Het
Bad	T	A	19: 6,951,070		probably benign	Het
BC034090	G	T	1: 155,226,339	Q60K	possibly damaging	Het
Casp6	A	G	3: 129,912,226	T181A	probably benign	Het
Catsperg2	G	A	7: 29,719,513		probably benign	Het
Ccdc14	T	C	16: 34,690,794	L46P	probably damaging	Het
Ces1b	A	G	8: 93,064,069	L364S	probably benign	Het
Cfap45	T	C	1: 172,529,850	I15T	probably benign	Het
D730048I06Rik	C	A	9: 35,790,000	R6M	possibly damaging	Het
Dph5	G	A	3: 115,928,556	E228K	probably benign	Het
Fat4	G	T	3: 38,956,821	L2023F	possibly damaging	Het
Garem1	T	C	18: 21,148,247	N351D	probably benign	Het
Gm14124	G	A	2: 150,266,252		probably null	Het
Grm2	C	T	9: 106,648,053	A488T	probably benign	Het
Ifit3b	A	G	19: 34,611,937	E171G	probably damaging	Het
Il1rn	A	T	2: 24,336,875		probably null	Het
Itih5	A	T	2: 10,249,181	I748F	probably benign	Het
Kcnh5	C	A	12: 75,007,611	D520Y	probably damaging	Het
Mgat5	C	A	1: 127,469,237	H574N	probably damaging	Het
Mybpc2	A	G	7: 44,506,166	F888L	probably benign	Het
Ncs1	T	A	2: 31,287,360	L183Q	probably damaging	Het
Neto2	A	T	8: 85,663,215	D206E	probably damaging	Het
Omp	A	G	7: 98,145,339	L27P	probably damaging	Het
Oxsm	A	G	14: 16,242,287	S161P	probably benign	Het
Pde4b	A	G	4: 102,601,898	I381M	possibly damaging	Het
Pramel5	A	T	4: 144,273,105	N137K	probably benign	Het
Prss33	T	C	17: 23,833,960	S247G	probably damaging	Het
Rassf9	T	A	10: 102,546,038	L425Q	possibly damaging	Het
Setx	A	T	2: 29,158,114	D1909V	probably damaging	Het
Slc26a3	A	T	12: 31,457,346	K402*	probably null	Het
Slco1a6	G	A	6: 142,133,215	T118I	probably damaging	Het
Syne1	A	G	10: 5,128,416	L6769P	probably damaging	Het
Tas2r107	A	T	6: 131,659,489	V199D	possibly damaging	Het
Tchp	A	G	5: 114,720,015		probably null	Het
Trdn	A	T	10: 33,474,487	N684I	probably damaging	Het
Trio	G	T	15: 27,854,996	T700K	probably benign	Het
Ttn	C	T	2: 76,755,898	V20084I	probably benign	Het
Ubl3	A	T	5: 148,509,306	Y62*	probably null	Het
Uckl1	A	G	2: 181,573,260	Y267H	possibly damaging	Het
Zfp786	T	C	6: 47,826,986	N41D	probably damaging	Het
Zfp983	T	C	17: 21,662,085	S310P	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
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
R8073:Moxd1	UTSW	10	24252950	missense	probably damaging	1.00
R8089:Moxd1	UTSW	10	24281519	missense	probably benign	0.43
R8255:Moxd1	UTSW	10	24223802	missense	probably benign	0.02
R8314:Moxd1	UTSW	10	24252540	missense	possibly damaging	0.81
R9099:Moxd1	UTSW	10	24279864	missense	probably damaging	1.00
X0063:Moxd1	UTSW	10	24252500	missense	probably benign	0.18
Z1177:Moxd1	UTSW	10	24284804	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GAAGAGTCTGGTCTGAACTTGG -3'
(R):5'- TCACCTAATGATGCTTCAAGCTG -3'

Sequencing Primer
(F):5'- TCTGAACTTGGAGGGTCCTC -3'
(R):5'- GAAGTAGTTCAGGGTTTTGTCTCAAG -3'

Posted On

2018-07-24