Mutagenetix > Incidental Mutation

Incidental Mutation 'R0825:Aox4'

78161

Institutional Source

Beutler Lab

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

AOH2, 2310003G12Rik

MMRRC Submission

039005-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0825 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 58288068 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 727 (D727G)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040442]

AlphaFold

Q3TYQ9

Predicted Effect

possibly damaging
Transcript: ENSMUST00000040442
AA Change: D727G

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: D727G

Domain	Start	End	E-Value	Type
Pfam:Fer2	12	82	1.6e-10	PFAM
Pfam:Fer2_2	91	165	4.6e-30	PFAM
Pfam:FAD_binding_5	240	421	2.7e-47	PFAM
CO_deh_flav_C	428	532	1.19e-26	SMART
Ald_Xan_dh_C	596	699	8.22e-39	SMART
Pfam:Ald_Xan_dh_C2	709	1243	1.1e-178	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161833

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161926

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.3%
3x: 98.5%
10x: 96.4%
20x: 91.4%

Validation Efficiency

98% (46/47)

MGI Phenotype

PHENOTYPE: Mice homozygous for a null allele exhibit a slight decrease in prenatal survival and epidermal thickening that is exacerbated by UV treatment. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca3	T	A	17: 24,619,551 (GRCm39)	I963N	probably damaging	Het
Arhgef26	T	A	3: 62,334,014 (GRCm39)	I590N	probably damaging	Het
Arid1b	T	G	17: 5,392,453 (GRCm39)	C1994W	probably damaging	Het
Chd9	T	C	8: 91,777,825 (GRCm39)	I2628T	probably benign	Het
Clspn	G	A	4: 126,466,923 (GRCm39)		probably benign	Het
Cyp2a4	A	T	7: 26,012,341 (GRCm39)	T375S	probably benign	Het
Dmtf1	A	T	5: 9,180,388 (GRCm39)	M226K	probably damaging	Het
Erap1	T	C	13: 74,822,733 (GRCm39)		probably benign	Het
Frmpd1	A	G	4: 45,285,394 (GRCm39)	D1405G	possibly damaging	Het
Gfm2	A	T	13: 97,279,612 (GRCm39)		probably benign	Het
Ghsr	T	C	3: 27,428,776 (GRCm39)	V267A	probably damaging	Het
Golga2	A	C	2: 32,194,803 (GRCm39)	Q650P	probably damaging	Het
Hmgcl	A	G	4: 135,687,381 (GRCm39)	T219A	probably benign	Het
Ift27	C	A	15: 78,049,336 (GRCm39)		probably benign	Het
Igfn1	C	T	1: 135,890,864 (GRCm39)	E2379K	probably damaging	Het
Iqca1	C	A	1: 90,070,453 (GRCm39)	G133V	probably null	Het
Kpnb1	A	T	11: 97,062,501 (GRCm39)	S421R	probably damaging	Het
Minar1	G	A	9: 89,485,332 (GRCm39)	Q22*	probably null	Het
Mtx3	C	A	13: 92,986,849 (GRCm39)	T264K	probably damaging	Het
Nrg3	G	A	14: 39,194,348 (GRCm39)	P137L	possibly damaging	Het
Nt5c2	A	G	19: 46,887,344 (GRCm39)		probably benign	Het
Or2y1e	T	A	11: 49,218,509 (GRCm39)	H90Q	probably benign	Het
Or5ac17	G	T	16: 59,036,813 (GRCm39)	H54Q	possibly damaging	Het
Pcdhb2	G	A	18: 37,428,710 (GRCm39)	V228I	possibly damaging	Het
Pdcd5	G	A	7: 35,346,338 (GRCm39)	R91W	possibly damaging	Het
Pxdn	G	A	12: 30,034,995 (GRCm39)		probably benign	Het
Rgl2	T	A	17: 34,154,133 (GRCm39)		probably null	Het
Rnf217	T	C	10: 31,393,453 (GRCm39)	D376G	probably damaging	Het
Septin9	C	T	11: 117,250,286 (GRCm39)	L519F	probably damaging	Het
Slc15a5	C	T	6: 137,995,087 (GRCm39)	C386Y	possibly damaging	Het
Srrm4	T	A	5: 116,591,772 (GRCm39)	I256F	unknown	Het
Stab1	G	T	14: 30,874,557 (GRCm39)	D950E	probably benign	Het
Stim2	A	G	5: 54,275,825 (GRCm39)	T667A	probably benign	Het
Strbp	A	T	2: 37,525,539 (GRCm39)	N144K	probably benign	Het
Sync	A	G	4: 129,187,190 (GRCm39)	Y74C	probably benign	Het
Terb1	A	T	8: 105,195,380 (GRCm39)	M587K	possibly damaging	Het
Tgfbi	T	C	13: 56,786,523 (GRCm39)		probably benign	Het
Tmf1	A	T	6: 97,152,956 (GRCm39)	N372K	probably benign	Het
Ubr4	G	T	4: 139,206,887 (GRCm39)		probably null	Het
Uggt1	A	T	1: 36,197,224 (GRCm39)	N1226K	probably benign	Het
Ugt2b34	T	C	5: 87,054,560 (GRCm39)	I74V	possibly damaging	Het
Wdfy3	A	G	5: 102,017,917 (GRCm39)	L2541P	probably damaging	Het
Zfhx3	T	G	8: 109,675,840 (GRCm39)	F2297V	probably damaging	Het

Other mutations in Aox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Aox4	APN	1	58,278,333 (GRCm39)	missense	probably damaging	1.00
IGL01011:Aox4	APN	1	58,279,934 (GRCm39)	nonsense	probably null
IGL01634:Aox4	APN	1	58,261,089 (GRCm39)	missense	possibly damaging	0.81
IGL01689:Aox4	APN	1	58,284,320 (GRCm39)	splice site	probably benign
IGL01874:Aox4	APN	1	58,291,243 (GRCm39)	missense	probably damaging	1.00
IGL02104:Aox4	APN	1	58,275,816 (GRCm39)	splice site	probably benign
IGL02744:Aox4	APN	1	58,294,711 (GRCm39)	missense	possibly damaging	0.90
IGL02751:Aox4	APN	1	58,298,211 (GRCm39)	missense	probably damaging	1.00
IGL03225:Aox4	APN	1	58,286,386 (GRCm39)	missense	possibly damaging	0.94
IGL03247:Aox4	APN	1	58,303,526 (GRCm39)	missense	probably damaging	1.00
IGL03369:Aox4	APN	1	58,301,746 (GRCm39)	missense	probably benign	0.01
BB008:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
BB018:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
R0138:Aox4	UTSW	1	58,268,025 (GRCm39)	missense	probably damaging	1.00
R0243:Aox4	UTSW	1	58,252,235 (GRCm39)	missense	probably benign
R0368:Aox4	UTSW	1	58,252,238 (GRCm39)	missense	probably benign	0.07
R0499:Aox4	UTSW	1	58,302,556 (GRCm39)	critical splice donor site	probably null
R0513:Aox4	UTSW	1	58,286,459 (GRCm39)	missense	probably damaging	1.00
R0513:Aox4	UTSW	1	58,256,678 (GRCm39)	missense	probably benign
R0546:Aox4	UTSW	1	58,289,333 (GRCm39)	missense	probably damaging	1.00
R0591:Aox4	UTSW	1	58,278,261 (GRCm39)	splice site	probably benign
R1912:Aox4	UTSW	1	58,303,561 (GRCm39)	missense	probably damaging	1.00
R1934:Aox4	UTSW	1	58,285,095 (GRCm39)	missense	probably benign	0.01
R2180:Aox4	UTSW	1	58,252,226 (GRCm39)	missense	probably benign	0.00
R2293:Aox4	UTSW	1	58,261,096 (GRCm39)	missense	probably damaging	0.99
R3017:Aox4	UTSW	1	58,274,363 (GRCm39)	missense	probably benign
R3744:Aox4	UTSW	1	58,285,029 (GRCm39)	missense	probably damaging	1.00
R3745:Aox4	UTSW	1	58,285,029 (GRCm39)	missense	probably damaging	1.00
R3830:Aox4	UTSW	1	58,294,670 (GRCm39)	missense	probably damaging	0.99
R3856:Aox4	UTSW	1	58,293,093 (GRCm39)	missense	probably damaging	1.00
R4214:Aox4	UTSW	1	58,261,051 (GRCm39)	missense	probably damaging	0.99
R4484:Aox4	UTSW	1	58,301,730 (GRCm39)	missense	probably damaging	1.00
R4706:Aox4	UTSW	1	58,305,946 (GRCm39)	missense	probably damaging	1.00
R4710:Aox4	UTSW	1	58,294,797 (GRCm39)	missense	probably damaging	1.00
R4729:Aox4	UTSW	1	58,298,236 (GRCm39)	nonsense	probably null
R4769:Aox4	UTSW	1	58,298,307 (GRCm39)	missense	probably null	1.00
R4809:Aox4	UTSW	1	58,305,808 (GRCm39)	missense	probably damaging	1.00
R4989:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5082:Aox4	UTSW	1	58,270,642 (GRCm39)	missense	possibly damaging	0.63
R5102:Aox4	UTSW	1	58,279,937 (GRCm39)	missense	probably damaging	1.00
R5114:Aox4	UTSW	1	58,285,445 (GRCm39)	missense	possibly damaging	0.89
R5133:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5134:Aox4	UTSW	1	58,275,835 (GRCm39)	missense	probably benign	0.00
R5185:Aox4	UTSW	1	58,293,477 (GRCm39)	missense	probably damaging	1.00
R5217:Aox4	UTSW	1	58,285,400 (GRCm39)	nonsense	probably null
R5426:Aox4	UTSW	1	58,259,253 (GRCm39)	missense	probably damaging	1.00
R5443:Aox4	UTSW	1	58,273,151 (GRCm39)	splice site	probably null
R5708:Aox4	UTSW	1	58,285,032 (GRCm39)	missense	possibly damaging	0.69
R6052:Aox4	UTSW	1	58,293,477 (GRCm39)	nonsense	probably null
R6167:Aox4	UTSW	1	58,303,094 (GRCm39)	missense	probably damaging	1.00
R6179:Aox4	UTSW	1	58,270,662 (GRCm39)	missense	probably benign
R6196:Aox4	UTSW	1	58,256,685 (GRCm39)	missense	probably damaging	1.00
R6513:Aox4	UTSW	1	58,252,212 (GRCm39)	missense	probably benign	0.01
R6781:Aox4	UTSW	1	58,284,268 (GRCm39)	missense	probably benign	0.03
R6885:Aox4	UTSW	1	58,303,537 (GRCm39)	missense	probably damaging	1.00
R7082:Aox4	UTSW	1	58,263,352 (GRCm39)	missense	possibly damaging	0.82
R7127:Aox4	UTSW	1	58,268,033 (GRCm39)	missense	probably benign	0.00
R7153:Aox4	UTSW	1	58,289,378 (GRCm39)	missense	probably damaging	0.99
R7371:Aox4	UTSW	1	58,303,013 (GRCm39)	missense	probably damaging	1.00
R7690:Aox4	UTSW	1	58,303,076 (GRCm39)	missense	probably damaging	1.00
R7745:Aox4	UTSW	1	58,279,866 (GRCm39)	missense	probably benign	0.01
R7752:Aox4	UTSW	1	58,293,107 (GRCm39)	missense	not run
R7767:Aox4	UTSW	1	58,274,366 (GRCm39)	missense	probably damaging	0.98
R7782:Aox4	UTSW	1	58,270,251 (GRCm39)	splice site	probably null
R7931:Aox4	UTSW	1	58,294,645 (GRCm39)	missense	probably benign	0.07
R7978:Aox4	UTSW	1	58,274,366 (GRCm39)	missense	probably damaging	0.98
R7982:Aox4	UTSW	1	58,296,400 (GRCm39)	missense	possibly damaging	0.81
R8316:Aox4	UTSW	1	58,293,470 (GRCm39)	missense	possibly damaging	0.69
R8361:Aox4	UTSW	1	58,279,998 (GRCm39)	missense	probably benign	0.03
R8829:Aox4	UTSW	1	58,294,649 (GRCm39)	missense	probably benign	0.01
R8832:Aox4	UTSW	1	58,294,649 (GRCm39)	missense	probably benign	0.01
R8896:Aox4	UTSW	1	58,291,233 (GRCm39)	missense	probably benign
R9103:Aox4	UTSW	1	58,296,441 (GRCm39)	missense	probably damaging	1.00
R9241:Aox4	UTSW	1	58,291,345 (GRCm39)	missense	probably damaging	1.00
R9282:Aox4	UTSW	1	58,285,028 (GRCm39)	missense	possibly damaging	0.59
R9487:Aox4	UTSW	1	58,288,097 (GRCm39)	missense	probably benign	0.00
R9493:Aox4	UTSW	1	58,286,434 (GRCm39)	missense	probably benign	0.01
R9557:Aox4	UTSW	1	58,285,095 (GRCm39)	missense	probably benign	0.00
R9616:Aox4	UTSW	1	58,268,020 (GRCm39)	missense	possibly damaging	0.81
R9644:Aox4	UTSW	1	58,267,278 (GRCm39)	missense	probably benign	0.01
R9683:Aox4	UTSW	1	58,278,462 (GRCm39)	critical splice donor site	probably null
R9727:Aox4	UTSW	1	58,286,473 (GRCm39)	missense	probably benign	0.43
R9767:Aox4	UTSW	1	58,274,357 (GRCm39)	missense	probably benign	0.05
X0021:Aox4	UTSW	1	58,286,454 (GRCm39)	nonsense	probably null
X0028:Aox4	UTSW	1	58,293,342 (GRCm39)	missense	probably damaging	0.99
Z1176:Aox4	UTSW	1	58,285,510 (GRCm39)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- GCTCCAAGTGTCTGAGTGTGTAGC -3'
(R):5'- GCCATATGCCTGAGTCAGTGAATCC -3'

Sequencing Primer
(F):5'- TAGCTATCTGACAGCAAAGGG -3'
(R):5'- cacacacacacacacacac -3'

Posted On

2013-10-16