Mutagenetix > Incidental Mutation

Incidental Mutation 'R7978:Aox4'

651000

Institutional Source

Beutler Lab

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

2310003G12Rik, AOH2

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R7978 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

58210397-58268597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 58235207 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Tyrosine at position 384 (S384Y)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

AlphaFold

Q3TYQ9

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: S384Y

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: S384Y

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: 98.9%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Aasdh	A	T	5: 76,888,668	I342N	probably damaging	Het
Alb	A	T	5: 90,472,073	N453I	possibly damaging	Het
Ap1g1	C	T	8: 109,837,767	R315*	probably null	Het
Cachd1	T	C	4: 100,974,863	Y741H	probably damaging	Het
Cacna2d2	C	G	9: 107,518,257	L661V	probably benign	Het
Ccdc90b	T	A	7: 92,567,713	H64Q	probably damaging	Het
Ccdc93	C	A	1: 121,499,231	N582K	possibly damaging	Het
Cdh7	A	G	1: 109,994,105		probably benign	Het
Cnksr1	T	C	4: 134,236,031	N78D	probably damaging	Het
Cttnbp2nl	A	G	3: 105,007,991	V132A	probably damaging	Het
Cwc25	G	A	11: 97,753,218	Q230*	probably null	Het
Dsel	G	A	1: 111,859,719	R1029*	probably null	Het
Dspp	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	TGACAGCAGTGACAGCAGCGACAGCAGCGACAGCAGTGACAGCAGCGACAGCAGCAACAGCAGTGACAGCAG	5: 104,178,361		probably benign	Het
Fam120a	T	C	13: 48,902,274	Y646C	probably damaging	Het
Hltf	T	C	3: 20,092,804	W576R	probably damaging	Het
Hmcn2	A	G	2: 31,389,347	N1787S	probably benign	Het
Ift122	A	G	6: 115,920,352	E904G	probably benign	Het
Igkv17-121	C	T	6: 68,036,822	T2I	unknown	Het
Ino80	T	G	2: 119,439,393	R590S	possibly damaging	Het
Intu	T	A	3: 40,697,639	I842N	probably damaging	Het
Itgae	A	T	11: 73,134,087	T1015S	probably damaging	Het
Kank1	GCGAACG	GCG	19: 25,411,205		probably null	Het
Kcna10	A	G	3: 107,194,347	E98G	probably damaging	Het
Kcnb2	T	A	1: 15,710,613	Y570N	probably benign	Het
Kmt2c	T	C	5: 25,359,678	I923V	probably benign	Het
Kptn	A	G	7: 16,125,772	D307G	probably damaging	Het
Myo3b	T	C	2: 70,253,114	Y704H	probably damaging	Het
Olfr103	A	G	17: 37,336,501	F244L	probably benign	Het
Olfr1186	T	A	2: 88,525,670	L29*	probably null	Het
Olfr1312	T	C	2: 112,042,178	T285A	possibly damaging	Het
Olfr48	A	T	2: 89,844,267	C235*	probably null	Het
Pmel	G	A	10: 128,715,950	V218M	probably damaging	Het
Prkar2b	T	C	12: 31,963,025	H364R	possibly damaging	Het
Psd4	T	C	2: 24,404,855	F809S	probably damaging	Het
Rabgap1l	A	G	1: 160,251,268	S59P		Het
Rgr	A	G	14: 37,044,688	F134L	probably benign	Het
Rspry1	G	T	8: 94,623,125	R47L	probably damaging	Het
Scd3	G	T	19: 44,234,249	E113*	probably null	Het
Slc22a12	G	A	19: 6,536,908	A476V	possibly damaging	Het
Smg1	T	C	7: 118,193,655	E560G	unknown	Het
Snx3	A	G	10: 42,502,350	D7G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,660,334		probably benign	Het
Tbc1d12	A	G	19: 38,916,841	M667V	probably benign	Het
Tbc1d30	A	T	10: 121,306,199	V81E	probably damaging	Het
Tbc1d9	A	T	8: 83,239,954	I395F	probably damaging	Het
Tes	C	A	6: 17,096,323	N103K	probably benign	Het
Tet2	T	C	3: 133,487,665	Y336C	possibly damaging	Het
Tgfbr3	T	C	5: 107,139,860	N491S	probably damaging	Het
Tomt	T	C	7: 101,900,347	I245V	probably damaging	Het
Trbc1	T	C	6: 41,538,302	L28P		Het
Trp63	T	C	16: 25,820,686	V208A	unknown	Het
Ttll8	G	T	15: 88,915,362	N625K	probably benign	Het
Ush2a	T	A	1: 188,399,938	W786R	probably benign	Het
Vmn2r97	A	T	17: 18,947,592	I703F	probably damaging	Het

Other mutations in Aox4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Aox4	APN	1	58239174	missense	probably damaging	1.00
IGL01011:Aox4	APN	1	58240775	nonsense	probably null
IGL01634:Aox4	APN	1	58221930	missense	possibly damaging	0.81
IGL01689:Aox4	APN	1	58245161	splice site	probably benign
IGL01874:Aox4	APN	1	58252084	missense	probably damaging	1.00
IGL02104:Aox4	APN	1	58236657	splice site	probably benign
IGL02744:Aox4	APN	1	58255552	missense	possibly damaging	0.90
IGL02751:Aox4	APN	1	58259052	missense	probably damaging	1.00
IGL03225:Aox4	APN	1	58247227	missense	possibly damaging	0.94
IGL03247:Aox4	APN	1	58264367	missense	probably damaging	1.00
IGL03369:Aox4	APN	1	58262587	missense	probably benign	0.01
BB008:Aox4	UTSW	1	58255486	missense	probably benign	0.07
BB018:Aox4	UTSW	1	58255486	missense	probably benign	0.07
R0138:Aox4	UTSW	1	58228866	missense	probably damaging	1.00
R0243:Aox4	UTSW	1	58213076	missense	probably benign
R0368:Aox4	UTSW	1	58213079	missense	probably benign	0.07
R0499:Aox4	UTSW	1	58263397	critical splice donor site	probably null
R0513:Aox4	UTSW	1	58217519	missense	probably benign
R0513:Aox4	UTSW	1	58247300	missense	probably damaging	1.00
R0546:Aox4	UTSW	1	58250174	missense	probably damaging	1.00
R0591:Aox4	UTSW	1	58239102	splice site	probably benign
R0825:Aox4	UTSW	1	58248909	missense	possibly damaging	0.55
R1912:Aox4	UTSW	1	58264402	missense	probably damaging	1.00
R1934:Aox4	UTSW	1	58245936	missense	probably benign	0.01
R2180:Aox4	UTSW	1	58213067	missense	probably benign	0.00
R2293:Aox4	UTSW	1	58221937	missense	probably damaging	0.99
R3017:Aox4	UTSW	1	58235204	missense	probably benign
R3744:Aox4	UTSW	1	58245870	missense	probably damaging	1.00
R3745:Aox4	UTSW	1	58245870	missense	probably damaging	1.00
R3830:Aox4	UTSW	1	58255511	missense	probably damaging	0.99
R3856:Aox4	UTSW	1	58253934	missense	probably damaging	1.00
R4214:Aox4	UTSW	1	58221892	missense	probably damaging	0.99
R4484:Aox4	UTSW	1	58262571	missense	probably damaging	1.00
R4706:Aox4	UTSW	1	58266787	missense	probably damaging	1.00
R4710:Aox4	UTSW	1	58255638	missense	probably damaging	1.00
R4729:Aox4	UTSW	1	58259077	nonsense	probably null
R4769:Aox4	UTSW	1	58259148	missense	probably null	1.00
R4809:Aox4	UTSW	1	58266649	missense	probably damaging	1.00
R4989:Aox4	UTSW	1	58236676	missense	probably benign	0.00
R5082:Aox4	UTSW	1	58231483	missense	possibly damaging	0.63
R5102:Aox4	UTSW	1	58240778	missense	probably damaging	1.00
R5114:Aox4	UTSW	1	58246286	missense	possibly damaging	0.89
R5133:Aox4	UTSW	1	58236676	missense	probably benign	0.00
R5134:Aox4	UTSW	1	58236676	missense	probably benign	0.00
R5185:Aox4	UTSW	1	58254318	missense	probably damaging	1.00
R5217:Aox4	UTSW	1	58246241	nonsense	probably null
R5426:Aox4	UTSW	1	58220094	missense	probably damaging	1.00
R5443:Aox4	UTSW	1	58233992	splice site	probably null
R5708:Aox4	UTSW	1	58245873	missense	possibly damaging	0.69
R6052:Aox4	UTSW	1	58254318	nonsense	probably null
R6167:Aox4	UTSW	1	58263935	missense	probably damaging	1.00
R6179:Aox4	UTSW	1	58231503	missense	probably benign
R6196:Aox4	UTSW	1	58217526	missense	probably damaging	1.00
R6513:Aox4	UTSW	1	58213053	missense	probably benign	0.01
R6781:Aox4	UTSW	1	58245109	missense	probably benign	0.03
R6885:Aox4	UTSW	1	58264378	missense	probably damaging	1.00
R7082:Aox4	UTSW	1	58224193	missense	possibly damaging	0.82
R7127:Aox4	UTSW	1	58228874	missense	probably benign	0.00
R7153:Aox4	UTSW	1	58250219	missense	probably damaging	0.99
R7371:Aox4	UTSW	1	58263854	missense	probably damaging	1.00
R7690:Aox4	UTSW	1	58263917	missense	probably damaging	1.00
R7745:Aox4	UTSW	1	58240707	missense	probably benign	0.01
R7752:Aox4	UTSW	1	58253948	missense	not run
R7767:Aox4	UTSW	1	58235207	missense	probably damaging	0.98
R7782:Aox4	UTSW	1	58231092	splice site	probably null
R7931:Aox4	UTSW	1	58255486	missense	probably benign	0.07
R7982:Aox4	UTSW	1	58257241	missense	possibly damaging	0.81
R8316:Aox4	UTSW	1	58254311	missense	possibly damaging	0.69
R8361:Aox4	UTSW	1	58240839	missense	probably benign	0.03
R8829:Aox4	UTSW	1	58255490	missense	probably benign	0.01
R8832:Aox4	UTSW	1	58255490	missense	probably benign	0.01
R8896:Aox4	UTSW	1	58252074	missense	probably benign
R9103:Aox4	UTSW	1	58257282	missense	probably damaging	1.00
R9241:Aox4	UTSW	1	58252186	missense	probably damaging	1.00
R9282:Aox4	UTSW	1	58245869	missense	possibly damaging	0.59
R9487:Aox4	UTSW	1	58248938	missense	probably benign	0.00
R9493:Aox4	UTSW	1	58247275	missense	probably benign	0.01
R9557:Aox4	UTSW	1	58245936	missense	probably benign	0.00
R9616:Aox4	UTSW	1	58228861	missense	possibly damaging	0.81
R9644:Aox4	UTSW	1	58228119	missense	probably benign	0.01
R9683:Aox4	UTSW	1	58239303	critical splice donor site	probably null
R9727:Aox4	UTSW	1	58247314	missense	probably benign	0.43
R9767:Aox4	UTSW	1	58235198	missense	probably benign	0.05
X0021:Aox4	UTSW	1	58247295	nonsense	probably null
X0028:Aox4	UTSW	1	58254183	missense	probably damaging	0.99
Z1176:Aox4	UTSW	1	58246351	missense	possibly damaging	0.49

Predicted Primers

PCR Primer
(F):5'- ATTTAGCAGCTTCCAAATGCTC -3'
(R):5'- CTTCTGAAAGACAGGTGGATCAC -3'

Sequencing Primer
(F):5'- CCCAGATCTTTCTGTGGAGCAAAAAG -3'
(R):5'- ACAGCTTCTGCCTCAGGTTTGAG -3'

Posted On

2020-09-15