Mutagenetix > Incidental Mutation

Incidental Mutation 'R5973:Moxd2'

471540

Institutional Source

Beutler Lab

Gene Symbol

Moxd2

Ensembl Gene

ENSMUSG00000029885

Gene Name

monooxygenase, DBH-like 2

Synonyms

Dbhl1

MMRRC Submission

044156-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.074) question?

Stock #

R5973 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

40855728-40864428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 40855744 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 615 (L615Q)

Ref Sequence

ENSEMBL: ENSMUSP00000031937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031937]

AlphaFold

Q7TT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000031937
AA Change: L615Q

PolyPhen 2 Score 0.963 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: L615Q

Domain	Start	End	E-Value	Type
signal peptide	1	21	N/A	INTRINSIC
DoH	66	156	1.43e-12	SMART
Pfam:Cu2_monooxygen	192	316	8.3e-39	PFAM
Pfam:Cu2_monoox_C	336	493	1.8e-37	PFAM

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.5%
20x: 92.3%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	A	5: 114,364,928 (GRCm39)	I1536N	probably damaging	Het
Actr1b	A	G	1: 36,741,162 (GRCm39)	S140P	probably damaging	Het
Afg3l2	G	T	18: 67,554,329 (GRCm39)	L458M	probably damaging	Het
Anapc7	A	T	5: 122,566,366 (GRCm39)	T92S	probably benign	Het
Ash2l	G	A	8: 26,307,642 (GRCm39)	T585M	possibly damaging	Het
Asxl1	T	C	2: 153,243,931 (GRCm39)	F1495L	probably damaging	Het
Atp5pf	T	C	16: 84,625,328 (GRCm39)		probably null	Het
Bcl2a1c	A	G	9: 114,159,465 (GRCm39)	N81S	probably benign	Het
Bfsp2	A	C	9: 103,309,856 (GRCm39)		probably null	Het
Casq1	A	G	1: 172,047,068 (GRCm39)	Y64H	probably damaging	Het
Ceacam16	A	G	7: 19,590,262 (GRCm39)	V227A	probably damaging	Het
Cers6	T	A	2: 68,898,969 (GRCm39)		probably null	Het
Chrnb1	A	G	11: 69,686,671 (GRCm39)		probably benign	Het
Clpb	G	A	7: 101,313,204 (GRCm39)	V63I	probably benign	Het
Dnah11	G	T	12: 118,074,687 (GRCm39)	D1388E	probably benign	Het
Dst	T	C	1: 34,195,938 (GRCm39)	L405P	probably damaging	Het
Dstyk	A	G	1: 132,362,149 (GRCm39)	E193G	probably damaging	Het
Dusp2	A	T	2: 127,179,208 (GRCm39)	S188C	probably damaging	Het
Ep400	T	C	5: 110,877,697 (GRCm39)	I810V	unknown	Het
Faim2	C	T	15: 99,419,132 (GRCm39)	G79D	probably benign	Het
Fpgt	A	T	3: 154,793,040 (GRCm39)	I329K	probably damaging	Het
Fut8	A	G	12: 77,411,771 (GRCm39)	T78A	probably benign	Het
Gm15130	A	G	2: 110,965,714 (GRCm39)		probably benign	Het
Gm17087	A	C	17: 8,785,529 (GRCm39)	I58R	probably benign	Het
Grk2	T	C	19: 4,337,925 (GRCm39)	D485G	possibly damaging	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hmcn1	A	G	1: 150,439,568 (GRCm39)	S5539P	probably damaging	Het
Hmcn2	G	A	2: 31,310,335 (GRCm39)	V3310M	probably damaging	Het
Impdh1	A	T	6: 29,207,161 (GRCm39)	L61Q	probably damaging	Het
Inhbb	A	T	1: 119,345,806 (GRCm39)	V161D	possibly damaging	Het
Kansl2	C	T	15: 98,427,306 (GRCm39)	V192M	probably damaging	Het
Krt1c	T	C	15: 101,724,747 (GRCm39)	K288E	probably damaging	Het
Lyar	A	G	5: 38,385,290 (GRCm39)	K110R	probably damaging	Het
Lyrm9	C	A	11: 78,726,961 (GRCm39)	H35N	probably damaging	Het
Mab21l1	A	G	3: 55,690,533 (GRCm39)	D40G	probably benign	Het
Maml2	A	C	9: 13,532,915 (GRCm39)		probably benign	Het
Mbd5	A	G	2: 49,162,401 (GRCm39)	H69R	probably benign	Het
Morc2b	G	T	17: 33,356,446 (GRCm39)	A442E	probably damaging	Het
Msh2	G	A	17: 88,016,011 (GRCm39)	G548S	probably damaging	Het
Napg	G	A	18: 63,128,054 (GRCm39)	S279N	possibly damaging	Het
Ncor1	A	T	11: 62,240,136 (GRCm39)		probably null	Het
Nkiras2	G	T	11: 100,516,866 (GRCm39)	R128L	probably damaging	Het
Npy4r	T	C	14: 33,868,664 (GRCm39)	D208G	probably benign	Het
Or10ak11	C	T	4: 118,687,413 (GRCm39)	V75I	probably benign	Het
Or52e2	A	G	7: 102,804,081 (GRCm39)	V291A	possibly damaging	Het
Or8b42	G	T	9: 38,341,627 (GRCm39)	L16F	probably damaging	Het
Pcdhgb2	A	G	18: 37,823,560 (GRCm39)	T184A	probably benign	Het
Plxna4	T	C	6: 32,228,000 (GRCm39)		probably null	Het
Pnldc1	C	T	17: 13,113,260 (GRCm39)	E328K	probably benign	Het
Pon1	T	A	6: 5,185,334 (GRCm39)	L55F	probably damaging	Het
Pramel51	T	C	12: 88,142,683 (GRCm39)	I312V	probably benign	Het
Prkci	G	T	3: 31,092,605 (GRCm39)	D296Y	probably damaging	Het
Prkd1	T	C	12: 50,435,038 (GRCm39)	H563R	probably damaging	Het
Ptpru	T	C	4: 131,546,236 (GRCm39)	N266S	probably benign	Het
Rapgef6	A	T	11: 54,530,609 (GRCm39)	I589F	probably damaging	Het
Rcan3	A	T	4: 135,145,853 (GRCm39)	S127T	probably benign	Het
Sh3tc2	A	G	18: 62,110,975 (GRCm39)	D277G	probably benign	Het
Sipa1l3	G	A	7: 29,098,949 (GRCm39)	A440V	probably benign	Het
Slc13a2	A	C	11: 78,291,358 (GRCm39)	I372S	probably damaging	Het
Slco1a7	T	A	6: 141,700,182 (GRCm39)	T117S	probably benign	Het
Spns1	A	T	7: 125,969,495 (GRCm39)	I528N	probably damaging	Het
Sult6b2	T	C	6: 142,736,021 (GRCm39)	K191R	probably benign	Het
Swt1	A	G	1: 151,278,700 (GRCm39)		probably null	Het
Tcn2	A	T	11: 3,877,546 (GRCm39)	L34*	probably null	Het
Tmem131l	C	T	3: 83,829,553 (GRCm39)	A1035T	possibly damaging	Het
Trpc4	A	G	3: 54,223,263 (GRCm39)	E733G	probably damaging	Het
Uap1l1	A	T	2: 25,254,642 (GRCm39)	H184Q	possibly damaging	Het
Vil1	T	G	1: 74,455,192 (GRCm39)	V48G	possibly damaging	Het
Vps39	A	T	2: 120,159,186 (GRCm39)	H367Q	probably damaging	Het
Wars2	A	G	3: 99,094,962 (GRCm39)	T86A	probably benign	Het
Wdr90	A	G	17: 26,064,107 (GRCm39)	S1872P	probably damaging	Het
Wdr90	A	G	17: 26,065,381 (GRCm39)	L1625P	probably damaging	Het
Xaf1	A	T	11: 72,194,256 (GRCm39)	M46L	probably damaging	Het
Zfp1005	A	G	2: 150,109,855 (GRCm39)	T182A	unknown	Het

Other mutations in Moxd2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00885:Moxd2	APN	6	40,861,113 (GRCm39)	splice site	probably benign
IGL02113:Moxd2	APN	6	40,862,338 (GRCm39)	missense	probably benign	0.06
IGL02223:Moxd2	APN	6	40,861,967 (GRCm39)	missense	probably damaging	1.00
IGL03204:Moxd2	APN	6	40,864,239 (GRCm39)	missense	probably benign	0.04
IGL03385:Moxd2	APN	6	40,855,952 (GRCm39)	missense	probably damaging	1.00
R0084:Moxd2	UTSW	6	40,856,342 (GRCm39)	missense	probably null	0.01
R1213:Moxd2	UTSW	6	40,868,831 (GRCm39)	unclassified	probably benign
R1326:Moxd2	UTSW	6	40,857,288 (GRCm39)	missense	probably benign	0.00
R1652:Moxd2	UTSW	6	40,864,337 (GRCm39)	missense	probably damaging	1.00
R1940:Moxd2	UTSW	6	40,860,466 (GRCm39)	missense	probably damaging	1.00
R2040:Moxd2	UTSW	6	40,861,887 (GRCm39)	splice site	probably null
R2088:Moxd2	UTSW	6	40,861,901 (GRCm39)	missense	probably damaging	1.00
R3018:Moxd2	UTSW	6	40,855,820 (GRCm39)	missense	probably benign	0.01
R3962:Moxd2	UTSW	6	40,862,331 (GRCm39)	missense	probably benign
R4248:Moxd2	UTSW	6	40,855,933 (GRCm39)	missense	probably damaging	1.00
R4438:Moxd2	UTSW	6	40,860,996 (GRCm39)	missense	probably damaging	1.00
R4715:Moxd2	UTSW	6	40,864,181 (GRCm39)	missense	probably damaging	1.00
R4732:Moxd2	UTSW	6	40,855,793 (GRCm39)	missense	probably benign
R4733:Moxd2	UTSW	6	40,855,793 (GRCm39)	missense	probably benign
R4760:Moxd2	UTSW	6	40,868,537 (GRCm39)	missense	probably benign	0.06
R4851:Moxd2	UTSW	6	40,855,756 (GRCm39)	missense	probably damaging	1.00
R5087:Moxd2	UTSW	6	40,856,270 (GRCm39)	missense	probably damaging	1.00
R5187:Moxd2	UTSW	6	40,856,271 (GRCm39)	missense	probably benign	0.18
R5339:Moxd2	UTSW	6	40,862,354 (GRCm39)	missense	probably damaging	1.00
R5452:Moxd2	UTSW	6	40,859,048 (GRCm39)	splice site	probably null
R5860:Moxd2	UTSW	6	40,857,341 (GRCm39)	missense	probably damaging	1.00
R6015:Moxd2	UTSW	6	40,860,688 (GRCm39)	missense	probably damaging	1.00
R6316:Moxd2	UTSW	6	40,860,481 (GRCm39)	missense	probably damaging	1.00
R7500:Moxd2	UTSW	6	40,868,746 (GRCm39)	missense	probably benign
R7561:Moxd2	UTSW	6	40,864,337 (GRCm39)	missense	probably damaging	1.00
R7840:Moxd2	UTSW	6	40,862,378 (GRCm39)	missense	possibly damaging	0.95
R8042:Moxd2	UTSW	6	40,862,301 (GRCm39)	missense	probably benign	0.40
R9147:Moxd2	UTSW	6	40,860,978 (GRCm39)	missense	probably damaging	1.00
R9148:Moxd2	UTSW	6	40,860,978 (GRCm39)	missense	probably damaging	1.00
R9169:Moxd2	UTSW	6	40,860,490 (GRCm39)	missense	possibly damaging	0.94
R9259:Moxd2	UTSW	6	40,860,969 (GRCm39)	missense	probably damaging	1.00
R9291:Moxd2	UTSW	6	40,857,362 (GRCm39)	missense	probably damaging	1.00
R9448:Moxd2	UTSW	6	40,864,160 (GRCm39)	missense	probably benign	0.01
R9522:Moxd2	UTSW	6	40,857,375 (GRCm39)	missense	probably benign	0.13
R9635:Moxd2	UTSW	6	40,863,000 (GRCm39)	missense	possibly damaging	0.93
X0052:Moxd2	UTSW	6	40,859,462 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CAGGCTTAGAGGCAGAATTTCTC -3'
(R):5'- GGACCATGCTTAGAGTCTACTGG -3'

Sequencing Primer
(F):5'- TGGTCCTGAAACCTTAAGAGTG -3'
(R):5'- CATGCTTAGAGTCTACTGGAGGCAAG -3'

Posted On

2017-03-31