Mutagenetix > Incidental Mutation

Incidental Mutation 'R3745:Aox4'

271144

Institutional Source

Beutler Lab

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

2310003G12Rik, AOH2

MMRRC Submission

040731-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3745 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58210397-58268597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 58245870 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Tyrosine at position 594 (H594Y)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: H594Y

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

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: H594Y

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

0.6467

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.2%
20x: 94.8%

Validation Efficiency

98% (44/45)

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: 44 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700012B07Rik	G	T	11: 109,794,154 (GRCm38)	C172*	probably null	Het
Acot9	G	A	X: 155,271,945 (GRCm38)		probably benign	Het
Akap10	A	G	11: 61,915,305 (GRCm38)	V199A	probably benign	Het
Arhgap35	A	T	7: 16,563,722 (GRCm38)	Y473N	probably damaging	Het
Aspn	G	A	13: 49,566,560 (GRCm38)	E351K	probably damaging	Het
Astn1	G	T	1: 158,502,060 (GRCm38)	A162S	probably damaging	Het
Auts2	A	G	5: 131,476,587 (GRCm38)		probably benign	Het
Cog6	A	T	3: 52,992,819 (GRCm38)	M507K	probably benign	Het
Crct1	C	A	3: 93,014,707 (GRCm38)		probably benign	Het
Cyp2d11	A	C	15: 82,391,855 (GRCm38)	I175S	probably benign	Het
Dclk1	A	G	3: 55,247,442 (GRCm38)	N98D	possibly damaging	Het
Erich5	T	A	15: 34,470,732 (GRCm38)	C36S	probably damaging	Het
F5	A	G	1: 164,186,779 (GRCm38)	I540V	possibly damaging	Het
Fam20a	A	T	11: 109,677,790 (GRCm38)	S303R	probably benign	Het
Fam214a	T	C	9: 75,009,862 (GRCm38)	V581A	probably benign	Het
Fat3	G	A	9: 15,998,271 (GRCm38)	S2145F	probably damaging	Het
Gbp9	C	A	5: 105,105,858 (GRCm38)		probably benign	Het
Gm6408	G	T	5: 146,484,436 (GRCm38)	V292F	probably damaging	Het
Kmt2a	A	G	9: 44,831,340 (GRCm38)		probably benign	Het
Lrriq1	T	C	10: 103,170,856 (GRCm38)	D1136G	probably damaging	Het
Macrod2	C	A	2: 141,810,629 (GRCm38)	T204K	probably damaging	Het
Mlkl	A	G	8: 111,315,567 (GRCm38)		probably benign	Het
Msantd1	T	A	5: 34,923,467 (GRCm38)	V155E	possibly damaging	Het
Myo3b	A	G	2: 70,234,485 (GRCm38)		probably benign	Het
Nbn	T	A	4: 15,976,163 (GRCm38)	C375S	possibly damaging	Het
Nell2	A	C	15: 95,432,673 (GRCm38)	C231W	probably damaging	Het
Nipbl	A	G	15: 8,358,874 (GRCm38)	S421P	probably benign	Het
Npr3	A	T	15: 11,905,491 (GRCm38)	V50E	probably damaging	Het
Olfr1425	A	G	19: 12,074,380 (GRCm38)	L84P	probably damaging	Het
Pclo	T	C	5: 14,678,421 (GRCm38)		probably benign	Het
Pkn3	A	G	2: 30,090,341 (GRCm38)	K785R	probably damaging	Het
Ppef2	T	A	5: 92,239,151 (GRCm38)		probably benign	Het
Prdm10	T	C	9: 31,340,407 (GRCm38)	I357T	possibly damaging	Het
Prrc2c	G	A	1: 162,698,185 (GRCm38)	T284I	unknown	Het
Psma3	T	C	12: 70,978,748 (GRCm38)	S13P	possibly damaging	Het
Ptch1	T	G	13: 63,524,959 (GRCm38)	E944A	probably benign	Het
Rpl6l	T	C	10: 111,126,365 (GRCm38)		noncoding transcript	Het
Tex11	A	G	X: 100,916,572 (GRCm38)	V522A	probably benign	Het
Thsd7b	A	G	1: 129,678,241 (GRCm38)	E573G	probably benign	Het
Tom1l1	A	G	11: 90,657,741 (GRCm38)	S259P	probably benign	Het
Trpm8	A	G	1: 88,348,327 (GRCm38)	E549G	probably benign	Het
Vmn1r66	C	T	7: 10,274,321 (GRCm38)	A262T	possibly damaging	Het
Zc3h13	T	A	14: 75,330,661 (GRCm38)	D1131E	probably benign	Het
Zfp445	A	C	9: 122,854,726 (GRCm38)	D289E	probably benign	Het

Other mutations in Aox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Aox4	APN	1	58,239,174 (GRCm38)	missense	probably damaging	1.00
IGL01011:Aox4	APN	1	58,240,775 (GRCm38)	nonsense	probably null
IGL01634:Aox4	APN	1	58,221,930 (GRCm38)	missense	possibly damaging	0.81
IGL01689:Aox4	APN	1	58,245,161 (GRCm38)	splice site	probably benign
IGL01874:Aox4	APN	1	58,252,084 (GRCm38)	missense	probably damaging	1.00
IGL02104:Aox4	APN	1	58,236,657 (GRCm38)	splice site	probably benign
IGL02744:Aox4	APN	1	58,255,552 (GRCm38)	missense	possibly damaging	0.90
IGL02751:Aox4	APN	1	58,259,052 (GRCm38)	missense	probably damaging	1.00
IGL03225:Aox4	APN	1	58,247,227 (GRCm38)	missense	possibly damaging	0.94
IGL03247:Aox4	APN	1	58,264,367 (GRCm38)	missense	probably damaging	1.00
IGL03369:Aox4	APN	1	58,262,587 (GRCm38)	missense	probably benign	0.01
BB008:Aox4	UTSW	1	58,255,486 (GRCm38)	missense	probably benign	0.07
BB018:Aox4	UTSW	1	58,255,486 (GRCm38)	missense	probably benign	0.07
R0138:Aox4	UTSW	1	58,228,866 (GRCm38)	missense	probably damaging	1.00
R0243:Aox4	UTSW	1	58,213,076 (GRCm38)	missense	probably benign
R0368:Aox4	UTSW	1	58,213,079 (GRCm38)	missense	probably benign	0.07
R0499:Aox4	UTSW	1	58,263,397 (GRCm38)	critical splice donor site	probably null
R0513:Aox4	UTSW	1	58,247,300 (GRCm38)	missense	probably damaging	1.00
R0513:Aox4	UTSW	1	58,217,519 (GRCm38)	missense	probably benign
R0546:Aox4	UTSW	1	58,250,174 (GRCm38)	missense	probably damaging	1.00
R0591:Aox4	UTSW	1	58,239,102 (GRCm38)	splice site	probably benign
R0825:Aox4	UTSW	1	58,248,909 (GRCm38)	missense	possibly damaging	0.55
R1912:Aox4	UTSW	1	58,264,402 (GRCm38)	missense	probably damaging	1.00
R1934:Aox4	UTSW	1	58,245,936 (GRCm38)	missense	probably benign	0.01
R2180:Aox4	UTSW	1	58,213,067 (GRCm38)	missense	probably benign	0.00
R2293:Aox4	UTSW	1	58,221,937 (GRCm38)	missense	probably damaging	0.99
R3017:Aox4	UTSW	1	58,235,204 (GRCm38)	missense	probably benign
R3744:Aox4	UTSW	1	58,245,870 (GRCm38)	missense	probably damaging	1.00
R3830:Aox4	UTSW	1	58,255,511 (GRCm38)	missense	probably damaging	0.99
R3856:Aox4	UTSW	1	58,253,934 (GRCm38)	missense	probably damaging	1.00
R4214:Aox4	UTSW	1	58,221,892 (GRCm38)	missense	probably damaging	0.99
R4484:Aox4	UTSW	1	58,262,571 (GRCm38)	missense	probably damaging	1.00
R4706:Aox4	UTSW	1	58,266,787 (GRCm38)	missense	probably damaging	1.00
R4710:Aox4	UTSW	1	58,255,638 (GRCm38)	missense	probably damaging	1.00
R4729:Aox4	UTSW	1	58,259,077 (GRCm38)	nonsense	probably null
R4769:Aox4	UTSW	1	58,259,148 (GRCm38)	missense	probably null	1.00
R4809:Aox4	UTSW	1	58,266,649 (GRCm38)	missense	probably damaging	1.00
R4989:Aox4	UTSW	1	58,236,676 (GRCm38)	missense	probably benign	0.00
R5082:Aox4	UTSW	1	58,231,483 (GRCm38)	missense	possibly damaging	0.63
R5102:Aox4	UTSW	1	58,240,778 (GRCm38)	missense	probably damaging	1.00
R5114:Aox4	UTSW	1	58,246,286 (GRCm38)	missense	possibly damaging	0.89
R5133:Aox4	UTSW	1	58,236,676 (GRCm38)	missense	probably benign	0.00
R5134:Aox4	UTSW	1	58,236,676 (GRCm38)	missense	probably benign	0.00
R5185:Aox4	UTSW	1	58,254,318 (GRCm38)	missense	probably damaging	1.00
R5217:Aox4	UTSW	1	58,246,241 (GRCm38)	nonsense	probably null
R5426:Aox4	UTSW	1	58,220,094 (GRCm38)	missense	probably damaging	1.00
R5443:Aox4	UTSW	1	58,233,992 (GRCm38)	splice site	probably null
R5708:Aox4	UTSW	1	58,245,873 (GRCm38)	missense	possibly damaging	0.69
R6052:Aox4	UTSW	1	58,254,318 (GRCm38)	nonsense	probably null
R6167:Aox4	UTSW	1	58,263,935 (GRCm38)	missense	probably damaging	1.00
R6179:Aox4	UTSW	1	58,231,503 (GRCm38)	missense	probably benign
R6196:Aox4	UTSW	1	58,217,526 (GRCm38)	missense	probably damaging	1.00
R6513:Aox4	UTSW	1	58,213,053 (GRCm38)	missense	probably benign	0.01
R6781:Aox4	UTSW	1	58,245,109 (GRCm38)	missense	probably benign	0.03
R6885:Aox4	UTSW	1	58,264,378 (GRCm38)	missense	probably damaging	1.00
R7082:Aox4	UTSW	1	58,224,193 (GRCm38)	missense	possibly damaging	0.82
R7127:Aox4	UTSW	1	58,228,874 (GRCm38)	missense	probably benign	0.00
R7153:Aox4	UTSW	1	58,250,219 (GRCm38)	missense	probably damaging	0.99
R7371:Aox4	UTSW	1	58,263,854 (GRCm38)	missense	probably damaging	1.00
R7690:Aox4	UTSW	1	58,263,917 (GRCm38)	missense	probably damaging	1.00
R7745:Aox4	UTSW	1	58,240,707 (GRCm38)	missense	probably benign	0.01
R7752:Aox4	UTSW	1	58,253,948 (GRCm38)	missense	not run
R7767:Aox4	UTSW	1	58,235,207 (GRCm38)	missense	probably damaging	0.98
R7782:Aox4	UTSW	1	58,231,092 (GRCm38)	splice site	probably null
R7931:Aox4	UTSW	1	58,255,486 (GRCm38)	missense	probably benign	0.07
R7978:Aox4	UTSW	1	58,235,207 (GRCm38)	missense	probably damaging	0.98
R7982:Aox4	UTSW	1	58,257,241 (GRCm38)	missense	possibly damaging	0.81
R8316:Aox4	UTSW	1	58,254,311 (GRCm38)	missense	possibly damaging	0.69
R8361:Aox4	UTSW	1	58,240,839 (GRCm38)	missense	probably benign	0.03
R8829:Aox4	UTSW	1	58,255,490 (GRCm38)	missense	probably benign	0.01
R8832:Aox4	UTSW	1	58,255,490 (GRCm38)	missense	probably benign	0.01
R8896:Aox4	UTSW	1	58,252,074 (GRCm38)	missense	probably benign
R9103:Aox4	UTSW	1	58,257,282 (GRCm38)	missense	probably damaging	1.00
R9241:Aox4	UTSW	1	58,252,186 (GRCm38)	missense	probably damaging	1.00
R9282:Aox4	UTSW	1	58,245,869 (GRCm38)	missense	possibly damaging	0.59
R9487:Aox4	UTSW	1	58,248,938 (GRCm38)	missense	probably benign	0.00
R9493:Aox4	UTSW	1	58,247,275 (GRCm38)	missense	probably benign	0.01
R9557:Aox4	UTSW	1	58,245,936 (GRCm38)	missense	probably benign	0.00
R9616:Aox4	UTSW	1	58,228,861 (GRCm38)	missense	possibly damaging	0.81
R9644:Aox4	UTSW	1	58,228,119 (GRCm38)	missense	probably benign	0.01
R9683:Aox4	UTSW	1	58,239,303 (GRCm38)	critical splice donor site	probably null
R9727:Aox4	UTSW	1	58,247,314 (GRCm38)	missense	probably benign	0.43
R9767:Aox4	UTSW	1	58,235,198 (GRCm38)	missense	probably benign	0.05
X0021:Aox4	UTSW	1	58,247,295 (GRCm38)	nonsense	probably null
X0028:Aox4	UTSW	1	58,254,183 (GRCm38)	missense	probably damaging	0.99
Z1176:Aox4	UTSW	1	58,246,351 (GRCm38)	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- TGCAAACTTGGTTACCTAGTCACC -3'
(R):5'- GTTCTCGCCCAGAAGAGATG -3'

Sequencing Primer
(F):5'- AACTTGGTTACCTAGTCACCTATAG -3'
(R):5'- GTTCTCGCCCAGAAGAGATGACTAC -3'

Posted On

2015-03-18