Mutagenetix > Incidental Mutation

Incidental Mutation 'R9241:Aox4'

700722

Institutional Source

Beutler Lab

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

AOH2, 2310003G12Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9241 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

58249556-58307756 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 58291345 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 821 (V821E)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: V821E

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: V821E

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.2%

Validation Efficiency

98% (51/52)

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: 53 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700030J22Rik	A	G	8: 117,697,937 (GRCm39)	L390P	probably damaging	Het
AL732309.1	T	A	2: 25,135,919 (GRCm39)	E98D	possibly damaging	Het
Aldh2	T	C	5: 121,710,220 (GRCm39)	I372V	probably benign	Het
Amph	G	T	13: 19,278,972 (GRCm39)	R149L	probably damaging	Het
Ano6	T	C	15: 95,688,887 (GRCm39)	V8A	probably benign	Het
Baz2b	T	A	2: 59,743,993 (GRCm39)	Q1504L	probably benign	Het
Cdcp1	C	A	9: 123,014,301 (GRCm39)	G158W	probably damaging	Het
Cryge	T	G	1: 65,088,018 (GRCm39)	D97A	possibly damaging	Het
Dusp9	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	TAAAGCGGAGGCCAAAGCGGAGGCCAAAGCGGAGGCTAAAGCGGAGGCCAAAGCGGAGGCCAAAG	X: 72,684,217 (GRCm39)		probably benign	Het
Dyrk1b	A	G	7: 27,886,058 (GRCm39)	T594A	probably benign	Het
Emilin3	T	C	2: 160,750,177 (GRCm39)	D477G	possibly damaging	Het
Fat2	T	C	11: 55,147,566 (GRCm39)	H3892R	probably benign	Het
Fktn	G	A	4: 53,734,854 (GRCm39)	G125D	probably benign	Het
Gm9922	A	T	14: 101,967,220 (GRCm39)	S11T	unknown	Het
Hcfc2	T	C	10: 82,568,485 (GRCm39)	V43A	probably benign	Het
Hcn1	T	C	13: 117,793,249 (GRCm39)	F167S	probably benign	Het
Jag1	T	C	2: 136,926,507 (GRCm39)	I1012M	probably damaging	Het
Kash5	A	G	7: 44,833,313 (GRCm39)	I603T	probably benign	Het
Lepr	G	T	4: 101,671,788 (GRCm39)	M937I	probably benign	Het
Macf1	T	C	4: 123,271,952 (GRCm39)	D6532G	probably damaging	Het
Mapk13	A	T	17: 28,990,187 (GRCm39)	D102V	probably damaging	Het
Mapt	A	T	11: 104,189,797 (GRCm39)	T272S	probably benign	Het
Mfap3	A	G	11: 57,420,672 (GRCm39)	T218A	probably damaging	Het
Mki67	A	T	7: 135,297,653 (GRCm39)	H2460Q	possibly damaging	Het
Nalcn	G	T	14: 123,809,429 (GRCm39)	P241Q	probably benign	Het
Nup50	A	G	15: 84,822,611 (GRCm39)	T378A	possibly damaging	Het
Oprl1	C	T	2: 181,360,405 (GRCm39)	R154C	probably damaging	Het
Or2n1e	A	G	17: 38,585,781 (GRCm39)	M40V	probably benign	Het
Pcdha8	C	T	18: 37,127,008 (GRCm39)	R497W	probably damaging	Het
Pik3c2a	A	G	7: 116,017,115 (GRCm39)	V214A	probably benign	Het
Plekha5	T	C	6: 140,525,204 (GRCm39)		probably null	Het
Pole3	A	G	4: 62,442,845 (GRCm39)		probably benign	Het
Prkn	A	T	17: 11,456,382 (GRCm39)	I69L	probably benign	Het
Psd3	G	T	8: 68,415,967 (GRCm39)	N357K	probably benign	Het
Psme4	A	T	11: 30,815,576 (GRCm39)	D1696V	probably damaging	Het
Reln	C	T	5: 22,174,067 (GRCm39)	R2012Q	probably damaging	Het
Saxo2	T	C	7: 82,284,250 (GRCm39)	T203A	probably benign	Het
Scgb1a1	T	C	19: 9,065,293 (GRCm39)		probably benign	Het
Selplg	T	A	5: 113,957,647 (GRCm39)	N220Y	possibly damaging	Het
Septin9	C	A	11: 117,109,724 (GRCm39)	R15S	probably benign	Het
Slc4a11	C	T	2: 130,533,664 (GRCm39)	A100T	probably damaging	Het
Smarca4	T	G	9: 21,550,604 (GRCm39)	S446A	possibly damaging	Het
Smc1b	T	C	15: 84,976,209 (GRCm39)	N833D	probably benign	Het
Son	T	A	16: 91,454,122 (GRCm39)	D956E	probably damaging	Het
Sorl1	A	T	9: 41,885,420 (GRCm39)	Y2060*	probably null	Het
Tesmin	T	C	19: 3,439,010 (GRCm39)	F21L	probably benign	Het
Tmem200c	G	T	17: 69,144,161 (GRCm39)		probably benign	Het
Tnk2	A	C	16: 32,488,916 (GRCm39)	D252A	probably damaging	Het
Tpcn1	C	T	5: 120,691,558 (GRCm39)	V299I	probably benign	Het
Trpv1	A	G	11: 73,151,182 (GRCm39)	N790S	probably benign	Het
Zfhx4	C	T	3: 5,308,697 (GRCm39)	T641I	probably damaging	Het
Zfp563	A	T	17: 33,321,520 (GRCm39)	Q45L	probably benign	Het
Zswim9	A	T	7: 13,003,360 (GRCm39)	D163E	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
R0825:Aox4	UTSW	1	58,288,068 (GRCm39)	missense	possibly damaging	0.55
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
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'- GCATTCTGCTGTGTATAAGAGC -3'
(R):5'- CTTAGAGAACATTGCCTGGCAG -3'

Sequencing Primer
(F):5'- CTGTGTATAAGAGCAGCAGGC -3'
(R):5'- GCAGCACACGACTTACTTCAGG -3'

Posted On

2022-02-07