Mutagenetix > Incidental Mutation

Incidental Mutation 'R1574:Moxd1'

500345

Institutional Source

Beutler Lab

Gene Symbol

Moxd1

Ensembl Gene

ENSMUSG00000020000

Gene Name

monooxygenase, DBH-like 1

Synonyms

3230402N08Rik

MMRRC Submission

045014-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1574 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

24099415-24178681 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 24176217 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Arginine at position 558 (W558R)

Ref Sequence

ENSEMBL: ENSMUSP00000093460 (fasta)

Gene Model

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

AlphaFold

Q9CXI3

Predicted Effect

probably damaging
Transcript: ENSMUST00000095784
AA Change: W558R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000093460
Gene: ENSMUSG00000020000
AA Change: W558R

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: 98.3%
3x: 96.3%
10x: 84.0%
20x: 52.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 72 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrl3	T	A	5: 81,935,296 (GRCm39)	N1276K	probably damaging	Het
Als2cl	A	G	9: 110,713,128 (GRCm39)	E6G	probably damaging	Het
Ankrd12	A	T	17: 66,293,269 (GRCm39)	D721E	probably benign	Het
Anpep	A	G	7: 79,488,155 (GRCm39)		probably null	Het
Apob	A	T	12: 8,040,839 (GRCm39)	I655L	possibly damaging	Het
Atp2b1	T	A	10: 98,832,810 (GRCm39)	L437Q	probably damaging	Het
Cacna2d3	T	A	14: 29,073,779 (GRCm39)	R222S	probably damaging	Het
Cenpf	C	T	1: 189,384,910 (GRCm39)	D2457N	probably damaging	Het
Cenpo	A	T	12: 4,265,433 (GRCm39)		probably null	Het
Ces2b	G	T	8: 105,562,521 (GRCm39)	A284S	probably benign	Het
Clock	T	C	5: 76,390,679 (GRCm39)	D311G	probably damaging	Het
Csmd3	T	C	15: 47,559,257 (GRCm39)		probably null	Het
D430041D05Rik	GTGATGATGATGATGATGATG	GTGATGATGATGATGATG	2: 104,051,553 (GRCm39)		probably benign	Het
Dbil5	A	G	11: 76,109,308 (GRCm39)	M71V	probably benign	Het
Ddhd1	A	C	14: 45,833,004 (GRCm39)	L864R	probably damaging	Het
Dnah11	A	G	12: 118,024,052 (GRCm39)	C1900R	probably damaging	Het
Dnah2	A	G	11: 69,405,514 (GRCm39)	V666A	probably benign	Het
Dnah5	T	A	15: 28,252,569 (GRCm39)	M754K	probably benign	Het
Dnajc15	A	T	14: 78,063,854 (GRCm39)	S145T	probably benign	Het
Drap1	A	G	19: 5,474,285 (GRCm39)	F25S	probably damaging	Het
Fam83e	G	A	7: 45,376,135 (GRCm39)	E283K	probably damaging	Het
Fbxo48	G	T	11: 16,903,368 (GRCm39)		probably benign	Het
Fndc3a	A	T	14: 72,793,997 (GRCm39)	I892N	probably damaging	Het
Gcn1	A	G	5: 115,753,611 (GRCm39)	T2321A	probably benign	Het
Greb1l	A	G	18: 10,554,997 (GRCm39)	D1681G	possibly damaging	Het
Hmcn2	A	C	2: 31,294,899 (GRCm39)	T2563P	probably damaging	Het
Iqcd	A	T	5: 120,738,300 (GRCm39)	K39N	probably damaging	Het
Kank2	A	G	9: 21,685,871 (GRCm39)	S668P	probably damaging	Het
Kcng1	T	A	2: 168,110,961 (GRCm39)	N68Y	probably damaging	Het
Kmt5b	T	A	19: 3,836,633 (GRCm39)		probably null	Het
Lama2	T	A	10: 27,200,750 (GRCm39)	I533F	possibly damaging	Het
Lcmt1	T	A	7: 123,002,131 (GRCm39)	I132N	probably damaging	Het
Mcph1	T	C	8: 18,851,428 (GRCm39)	I807T	probably damaging	Het
Mdn1	A	G	4: 32,722,315 (GRCm39)	I2366V	probably benign	Het
Mtus2	A	C	5: 148,013,362 (GRCm39)	K52Q	probably benign	Het
Myrf	T	C	19: 10,202,851 (GRCm39)	D141G	probably damaging	Het
Naca	G	T	10: 127,876,267 (GRCm39)		probably benign	Het
Ncoa7	T	C	10: 30,570,097 (GRCm39)	I249M	probably damaging	Het
Obox5	T	C	7: 15,492,558 (GRCm39)	V171A	probably damaging	Het
Or13e8	A	T	4: 43,697,134 (GRCm39)	V13D	possibly damaging	Het
Or13p3	T	A	4: 118,566,751 (GRCm39)	I49N	probably damaging	Het
Or2c1	T	C	16: 3,657,521 (GRCm39)	I228T	probably damaging	Het
Or5ak20	A	T	2: 85,184,243 (GRCm39)	V9E	probably damaging	Het
Or6c219	A	G	10: 129,781,379 (GRCm39)	L69P	probably damaging	Het
Or7a36	C	A	10: 78,819,820 (GRCm39)	N32K	probably damaging	Het
Parp4	A	G	14: 56,839,752 (GRCm39)	T487A	probably damaging	Het
Pclo	A	G	5: 14,729,845 (GRCm39)		probably benign	Het
Pcnx2	G	A	8: 126,500,669 (GRCm39)	R1474C	probably damaging	Het
Pkd1l3	A	G	8: 110,341,445 (GRCm39)	I99M	unknown	Het
Ruvbl1	T	C	6: 88,456,136 (GRCm39)	V70A	probably damaging	Het
Sart1	G	A	19: 5,430,287 (GRCm39)	P788L	probably damaging	Het
Sdk1	A	G	5: 141,984,634 (GRCm39)	T740A	probably benign	Het
Serpinb1c	T	C	13: 33,072,979 (GRCm39)	D61G	possibly damaging	Het
Sfi1	TCGC	TC	11: 3,096,254 (GRCm39)		probably null	Het
Slc24a5	G	A	2: 124,922,782 (GRCm39)	G152S	probably damaging	Het
Slc6a4	A	T	11: 76,910,022 (GRCm39)	I426F	possibly damaging	Het
Srsf4	T	A	4: 131,625,006 (GRCm39)	D134E	probably damaging	Het
Stk33	C	T	7: 108,879,027 (GRCm39)	V441I	probably benign	Het
Sult1c2	A	G	17: 54,143,927 (GRCm39)		probably null	Het
Tdpoz4	T	A	3: 93,703,835 (GRCm39)	V44E	probably benign	Het
Tdrd6	G	A	17: 43,936,515 (GRCm39)	S1511L	probably damaging	Het
Tmprss13	C	A	9: 45,254,529 (GRCm39)	T432K	probably damaging	Het
Traf7	A	G	17: 24,729,527 (GRCm39)	L428P	probably damaging	Het
Tubb1	T	C	2: 174,299,215 (GRCm39)	I299T	probably benign	Het
Vmn1r158	A	T	7: 22,489,772 (GRCm39)	W146R	probably damaging	Het
Vmn1r42	A	G	6: 89,822,059 (GRCm39)	I170T	possibly damaging	Het
Vmn1r42	C	T	6: 89,822,363 (GRCm39)	G69S	probably damaging	Het
Vmn2r116	A	T	17: 23,606,063 (GRCm39)	H325L	probably damaging	Het
Zfp516	T	A	18: 83,011,300 (GRCm39)	L1111H	possibly damaging	Het
Zfp61	C	G	7: 23,990,635 (GRCm39)	K505N	probably damaging	Het
Zfp653	C	A	9: 21,969,274 (GRCm39)	E331*	probably null	Het
Zfp949	A	T	9: 88,451,830 (GRCm39)	K467*	probably null	Het

Other mutations in Moxd1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00091:Moxd1	APN	10	24,155,762 (GRCm39)	missense	probably damaging	1.00
IGL00227:Moxd1	APN	10	24,158,491 (GRCm39)	missense	probably damaging	1.00
IGL00331:Moxd1	APN	10	24,158,453 (GRCm39)	splice site	probably benign
IGL01074:Moxd1	APN	10	24,155,282 (GRCm39)	missense	probably benign	0.45
IGL01462:Moxd1	APN	10	24,120,286 (GRCm39)	critical splice donor site	probably null
IGL01777:Moxd1	APN	10	24,128,494 (GRCm39)	missense	probably benign	0.00
IGL02051:Moxd1	APN	10	24,128,916 (GRCm39)	splice site	probably null
IGL02272:Moxd1	APN	10	24,158,598 (GRCm39)	nonsense	probably null
IGL02343:Moxd1	APN	10	24,155,762 (GRCm39)	missense	probably damaging	1.00
IGL02425:Moxd1	APN	10	24,155,334 (GRCm39)	missense	probably benign	0.01
IGL02448:Moxd1	APN	10	24,158,617 (GRCm39)	missense	probably damaging	0.99
IGL02452:Moxd1	APN	10	24,158,650 (GRCm39)	missense	probably damaging	1.00
IGL03301:Moxd1	APN	10	24,155,382 (GRCm39)	missense	probably damaging	0.99
R0631:Moxd1	UTSW	10	24,128,852 (GRCm39)	missense	probably damaging	1.00
R1436:Moxd1	UTSW	10	24,120,256 (GRCm39)	missense	probably damaging	1.00
R1484:Moxd1	UTSW	10	24,099,758 (GRCm39)	missense	probably damaging	1.00
R1574:Moxd1	UTSW	10	24,176,217 (GRCm39)	missense	probably damaging	1.00
R1713:Moxd1	UTSW	10	24,157,394 (GRCm39)	missense	probably damaging	1.00
R1954:Moxd1	UTSW	10	24,155,781 (GRCm39)	missense	probably benign	0.17
R3115:Moxd1	UTSW	10	24,177,429 (GRCm39)	nonsense	probably null
R3116:Moxd1	UTSW	10	24,177,429 (GRCm39)	nonsense	probably null
R5183:Moxd1	UTSW	10	24,163,034 (GRCm39)	missense	probably damaging	1.00
R5183:Moxd1	UTSW	10	24,155,445 (GRCm39)	critical splice donor site	probably null
R5322:Moxd1	UTSW	10	24,120,151 (GRCm39)	missense	possibly damaging	0.88
R5728:Moxd1	UTSW	10	24,099,581 (GRCm39)	missense	possibly damaging	0.92
R5824:Moxd1	UTSW	10	24,162,995 (GRCm39)	missense	probably damaging	1.00
R6158:Moxd1	UTSW	10	24,160,675 (GRCm39)	missense	probably damaging	1.00
R6322:Moxd1	UTSW	10	24,160,709 (GRCm39)	missense	probably damaging	1.00
R6662:Moxd1	UTSW	10	24,160,658 (GRCm39)	missense	probably damaging	1.00
R6827:Moxd1	UTSW	10	24,155,748 (GRCm39)	missense	probably benign	0.29
R6928:Moxd1	UTSW	10	24,176,186 (GRCm39)	missense	probably damaging	1.00
R7048:Moxd1	UTSW	10	24,157,374 (GRCm39)	missense	probably damaging	1.00
R7320:Moxd1	UTSW	10	24,177,363 (GRCm39)	missense	probably benign	0.05
R7736:Moxd1	UTSW	10	24,158,608 (GRCm39)	missense	probably damaging	1.00
R8060:Moxd1	UTSW	10	24,177,510 (GRCm39)	missense	unknown
R8073:Moxd1	UTSW	10	24,128,848 (GRCm39)	missense	probably damaging	1.00
R8089:Moxd1	UTSW	10	24,157,417 (GRCm39)	missense	probably benign	0.43
R8255:Moxd1	UTSW	10	24,099,700 (GRCm39)	missense	probably benign	0.02
R8314:Moxd1	UTSW	10	24,128,438 (GRCm39)	missense	possibly damaging	0.81
R9039:Moxd1	UTSW	10	24,155,251 (GRCm39)	splice site	probably benign
R9099:Moxd1	UTSW	10	24,155,762 (GRCm39)	missense	probably damaging	1.00
R9306:Moxd1	UTSW	10	24,128,824 (GRCm39)	splice site	probably benign
R9657:Moxd1	UTSW	10	24,128,485 (GRCm39)	missense	probably benign	0.16
X0063:Moxd1	UTSW	10	24,128,398 (GRCm39)	missense	probably benign	0.18
Z1177:Moxd1	UTSW	10	24,160,702 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- GACATGGCCTTTCATTATCAAAAGCCC -3'
(R):5'- TCCTCATGGAGTCTAAAGCTGTCCC -3'

Sequencing Primer
(F):5'- CTTTCATTATCAAAAGCCCTAAGCAG -3'
(R):5'- ATGGTATCTAAAGCTGCCCC -3'

Posted On

2017-12-01