Mutagenetix > Incidental Mutation

Incidental Mutation 'R7561:Moxd2'

585112

Institutional Source

Beutler Lab

Gene Symbol

Moxd2

Ensembl Gene

ENSMUSG00000029885

Gene Name

monooxygenase, DBH-like 2

Synonyms

Dbhl1

MMRRC Submission

045654-MU

Accession Numbers

Essential gene?

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

Stock #

R7561 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

40855728-40864428 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 40864337 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Histidine at position 31 (R31H)

Ref Sequence

ENSEMBL: ENSMUSP00000031937 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000031937] [ENSMUST00000103262]

AlphaFold

Q7TT41

Predicted Effect

probably damaging
Transcript: ENSMUST00000031937
AA Change: R31H

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000031937
Gene: ENSMUSG00000029885
AA Change: R31H

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103262

SMART Domains

Protein: ENSMUSP00000100078
Gene: ENSMUSG00000076461

Domain	Start	End	E-Value	Type
signal peptide	1	18	N/A	INTRINSIC
Pfam:V-set	22	116	8.4e-10	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000192446

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 80 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2210408I21Rik	C	A	13: 77,341,314 (GRCm39)	N314K	probably benign	Het
A430005L14Rik	T	A	4: 154,045,097 (GRCm39)	I80N	probably benign	Het
Abca2	A	G	2: 25,336,707 (GRCm39)	H2271R	probably damaging	Het
Acad8	T	C	9: 26,890,538 (GRCm39)	I257V	probably benign	Het
Acot12	A	T	13: 91,918,243 (GRCm39)	T179S	probably damaging	Het
Adcy10	A	G	1: 165,386,741 (GRCm39)	R1155G	possibly damaging	Het
Adcy9	C	T	16: 4,236,028 (GRCm39)	C461Y	probably damaging	Het
Adgrf1	G	A	17: 43,622,000 (GRCm39)	V746I	possibly damaging	Het
Agbl1	C	A	7: 76,348,509 (GRCm39)	Q869K	unknown	Het
AI837181	T	G	19: 5,476,491 (GRCm39)	V218G	probably damaging	Het
Alg9	T	C	9: 50,754,074 (GRCm39)	S585P	possibly damaging	Het
Arhgef38	T	C	3: 132,866,489 (GRCm39)	Q216R		Het
Asb4	A	T	6: 5,430,968 (GRCm39)	H401L	possibly damaging	Het
Atg7	G	T	6: 114,650,002 (GRCm39)	A60S	possibly damaging	Het
Atp10a	T	A	7: 58,476,881 (GRCm39)	C1199S	probably damaging	Het
Blm	G	A	7: 80,152,276 (GRCm39)	A557V	probably damaging	Het
Cbln1	A	T	8: 88,198,624 (GRCm39)	M82K	probably benign	Het
Ccdc183	T	G	2: 25,501,529 (GRCm39)	I293L	probably benign	Het
Col6a3	A	G	1: 90,703,463 (GRCm39)	S3035P	unknown	Het
Cux2	A	T	5: 122,017,931 (GRCm39)	S206T	probably benign	Het
Cyfip2	T	C	11: 46,161,425 (GRCm39)	D355G	probably benign	Het
Dhrs2	A	G	14: 55,474,698 (GRCm39)	H111R	probably benign	Het
Eif3b	T	G	5: 140,428,109 (GRCm39)	D781E	probably benign	Het
Enpp5	G	A	17: 44,396,155 (GRCm39)	G356S	probably damaging	Het
Fermt1	A	T	2: 132,758,008 (GRCm39)	I469N	probably benign	Het
Fgf20	G	T	8: 40,732,975 (GRCm39)	N154K	possibly damaging	Het
Fndc10	T	A	4: 155,779,328 (GRCm39)	V124E	probably damaging	Het
Fra10ac1	T	C	19: 38,210,324 (GRCm39)	D13G	probably damaging	Het
Gpatch1	A	G	7: 35,008,800 (GRCm39)	S74P	probably damaging	Het
Gramd1b	G	A	9: 40,312,911 (GRCm39)	T19I	unknown	Het
Grm8	T	C	6: 27,429,524 (GRCm39)	T457A	probably benign	Het
Gucy2g	C	A	19: 55,194,772 (GRCm39)	V882L	probably benign	Het
Hectd4	G	A	5: 121,429,288 (GRCm39)	R811H	possibly damaging	Het
Hk1	C	T	10: 62,116,807 (GRCm39)		probably null	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Il10ra	T	A	9: 45,167,117 (GRCm39)	D480V	probably benign	Het
Il18rap	A	T	1: 40,563,537 (GRCm39)	H22L	probably benign	Het
Inpp5a	T	A	7: 139,147,338 (GRCm39)	I321N	probably damaging	Het
Insyn1	A	G	9: 58,406,687 (GRCm39)	D199G	probably damaging	Het
Kat2b	T	G	17: 53,948,286 (GRCm39)	L352R	probably benign	Het
Katnip	C	T	7: 125,441,894 (GRCm39)	S627L	probably benign	Het
Kcna1	A	T	6: 126,619,108 (GRCm39)	V404E	probably damaging	Het
Mcm3ap	T	A	10: 76,328,712 (GRCm39)	V1110E	possibly damaging	Het
Mpdz	A	T	4: 81,225,388 (GRCm39)	N1368K	probably damaging	Het
Mpzl3	G	T	9: 44,966,610 (GRCm39)	V24F	probably benign	Het
Mybph	G	A	1: 134,121,465 (GRCm39)		probably null	Het
Ncam1	G	T	9: 49,476,242 (GRCm39)	D282E	probably damaging	Het
Ntrk2	G	A	13: 59,009,202 (GRCm39)	C331Y	probably benign	Het
Nwd2	T	A	5: 63,964,434 (GRCm39)	C1339*	probably null	Het
Or3a1d	T	C	11: 74,238,436 (GRCm39)		probably benign	Het
Or5b98	T	C	19: 12,931,403 (GRCm39)	V150A	probably benign	Het
Or8k33	T	C	2: 86,383,661 (GRCm39)	D269G	probably benign	Het
Osbpl6	C	A	2: 76,416,498 (GRCm39)	T672N	probably damaging	Het
Pds5b	T	C	5: 150,662,783 (GRCm39)		probably null	Het
Perm1	A	G	4: 156,303,217 (GRCm39)	N587S	probably benign	Het
Pex7	A	T	10: 19,770,012 (GRCm39)	C165*	probably null	Het
Pik3r4	A	G	9: 105,564,446 (GRCm39)	T1347A	possibly damaging	Het
Pitpnm3	T	C	11: 71,942,008 (GRCm39)	D933G	probably benign	Het
Rnf213	T	A	11: 119,332,545 (GRCm39)	F2586I		Het
Scn10a	A	G	9: 119,523,390 (GRCm39)	M1T	probably null	Het
Sdhaf3	T	A	6: 6,956,079 (GRCm39)	L18Q	not run	Het
Septin7	A	G	9: 25,209,151 (GRCm39)	E256G	possibly damaging	Het
Slc35b2	A	G	17: 45,877,727 (GRCm39)	T236A	probably damaging	Het
Slc4a4	G	A	5: 89,347,556 (GRCm39)	G766R	probably damaging	Het
Slco6c1	G	T	1: 97,000,691 (GRCm39)	S537Y	probably damaging	Het
Srp68	T	C	11: 116,139,593 (GRCm39)	E452G	probably damaging	Het
Taf2	A	T	15: 54,919,229 (GRCm39)	M382K	probably benign	Het
Tas2r131	A	G	6: 132,933,921 (GRCm39)	L296P	probably benign	Het
Tlr9	A	G	9: 106,103,148 (GRCm39)	E813G	probably benign	Het
Trmt44	T	C	5: 35,715,336 (GRCm39)	E659G	possibly damaging	Het
Ttc21b	G	A	2: 66,047,548 (GRCm39)	A849V	possibly damaging	Het
Unc45a	G	T	7: 79,981,334 (GRCm39)	S489R	possibly damaging	Het
Xrn1	T	C	9: 95,881,511 (GRCm39)	V795A	probably benign	Het
Zbtb22	A	T	17: 34,136,952 (GRCm39)	T366S	probably benign	Het
Zcchc10	T	A	11: 53,215,545 (GRCm39)	H6Q	probably benign	Het
Zfp60	A	G	7: 27,447,955 (GRCm39)	K208E	probably damaging	Het
Zfp780b	A	T	7: 27,664,037 (GRCm39)	C173S	possibly damaging	Het
Zfp786	C	A	6: 47,796,667 (GRCm39)	R757L	probably benign	Het
Zfp936	G	A	7: 42,839,339 (GRCm39)	A269T	probably damaging	Het
Zfp976	T	C	7: 42,265,701 (GRCm39)	Y29C	probably damaging	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
R5973:Moxd2	UTSW	6	40,855,744 (GRCm39)	missense	probably damaging	0.96
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
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'- TTGGGTAGGACTCCTCCAAC -3'
(R):5'- CACCACTCTGTACACAGTGG -3'

Sequencing Primer
(F):5'- GGTAGGACTCCTCCAACTACCAG -3'
(R):5'- CACTCTGTACACAGTGGATAATCAG -3'

Posted On

2019-10-17