Mutagenetix > Incidental Mutations

Incidental Mutation 'R5185:Aox4'

397786

Institutional Source

Beutler Lab

Gene Symbol

Aox4

Ensembl Gene

ENSMUSG00000038242

Gene Name

aldehyde oxidase 4

Synonyms

2310003G12Rik, AOH2

MMRRC Submission

042764-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5185 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

58210397-58268597 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 58254318 bp

Zygosity

Heterozygous

Amino Acid Change

Leucine to Serine at position 943 (L943S)

Ref Sequence

ENSEMBL: ENSMUSP00000048929 (fasta)

Gene Model

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000040442
AA Change: L943S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000048929
Gene: ENSMUSG00000038242
AA Change: L943S

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: ENSMUST00000161126

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161833

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.3%
20x: 95.4%

Validation Efficiency

95% (70/74)

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: 67 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsf2	T	C	11: 94,562,911	Y408C	probably damaging	Het
Ap1g1	G	A	8: 109,863,326		probably benign	Het
Arsb	T	C	13: 93,794,159	S212P	probably damaging	Het
Arsi	A	G	18: 60,916,912	N289S	probably damaging	Het
Atp6v1h	T	A	1: 5,095,642	F72I	probably damaging	Het
Atxn7	T	C	14: 14,090,063	I336T	probably benign	Het
Bak1	G	A	17: 27,022,748	P65L	possibly damaging	Het
Bcl6	A	T	16: 23,972,947	M219K	possibly damaging	Het
Brd3	T	C	2: 27,462,448	K157E	probably damaging	Het
Ccdc171	T	G	4: 83,663,655	S674A	possibly damaging	Het
Cfap43	A	G	19: 47,780,394	I737T	probably benign	Het
Cul9	A	T	17: 46,525,832	V1089D	possibly damaging	Het
Dffa	C	A	4: 149,117,430	A155E	probably benign	Het
Dnhd1	G	A	7: 105,703,209	R2523Q	probably damaging	Het
Efcab12	T	A	6: 115,823,490	M191L	probably benign	Het
Efl1	T	C	7: 82,772,499	L1018P	probably damaging	Het
Fcho1	A	G	8: 71,714,956		probably benign	Het
Fndc3b	T	A	3: 27,457,070	T764S	probably benign	Het
Gm29125	T	C	1: 80,384,231		noncoding transcript	Het
Gm5108	A	G	5: 67,944,610		probably benign	Het
Gm9949	T	G	18: 62,180,565		probably benign	Het
Golgb1	T	C	16: 36,875,141		probably benign	Het
Gpd2	T	C	2: 57,340,204	Y323H	probably damaging	Het
Grip1	T	G	10: 119,931,259	D96E	probably benign	Het
Hmcn1	T	C	1: 150,656,741	I3132V	probably benign	Het
Hsd17b1	T	C	11: 101,080,198	W327R	possibly damaging	Het
Htra2	G	A	6: 83,054,242	P62L	probably benign	Het
Kdr	A	T	5: 75,952,417		probably null	Het
Kif14	T	A	1: 136,527,469	C1626*	probably null	Het
Kmt2a	A	T	9: 44,820,246		probably benign	Het
Krt15	T	C	11: 100,133,433	T321A	probably damaging	Het
Lactbl1	A	T	4: 136,631,045	H109L	probably benign	Het
Lilra6	T	A	7: 3,914,636	H120L	probably benign	Het
Lpcat2	G	A	8: 92,869,737	S134N	probably benign	Het
Mpp4	T	C	1: 59,125,583	D465G	probably benign	Het
Naip2	A	T	13: 100,189,351	D16E	probably damaging	Het
Nek5	C	T	8: 22,083,381	A520T	possibly damaging	Het
Nfatc2	A	G	2: 168,570,707	F132L	possibly damaging	Het
Nlrp3	C	A	11: 59,565,084	T902N	probably benign	Het
Olfr1097	T	C	2: 86,890,602	D191G	probably benign	Het
Olfr1230	A	T	2: 89,296,387	H294Q	probably benign	Het
Olfr149	A	T	9: 39,701,876	W298R	probably benign	Het
Olfr58	T	C	9: 19,783,376	M81T	probably damaging	Het
Pcdhb16	T	C	18: 37,480,089	S701P	possibly damaging	Het
Phf7	A	G	14: 31,248,037		probably null	Het
Plpp4	G	A	7: 129,316,304	V68M	probably damaging	Het
Pnma2	A	T	14: 66,916,129	M1L	possibly damaging	Het
Pnmal2	A	T	7: 16,945,976	D295V	probably damaging	Het
Rad21l	T	C	2: 151,657,462	D270G	probably benign	Het
Ralgapa2	C	A	2: 146,388,486		probably null	Het
Rasal3	A	T	17: 32,396,790	L334Q	probably damaging	Het
Rfx4	G	T	10: 84,863,250	R240L	probably damaging	Het
Rnf19b	T	A	4: 129,083,920	C642*	probably null	Het
Slc28a2	G	A	2: 122,458,194	E594K	probably benign	Het
Spata31	G	T	13: 64,917,526	W15L	possibly damaging	Het
Spink5	T	C	18: 44,015,644	S925P	probably damaging	Het
Svep1	C	T	4: 58,084,534	G1865S	probably damaging	Het
Tg	T	C	15: 66,773,474	L791P	probably damaging	Het
Thbs4	A	C	13: 92,775,167	V247G	probably damaging	Het
Tpcn2	A	T	7: 145,255,454	F705Y	probably damaging	Het
Try10	A	T	6: 41,356,549	H76L	probably damaging	Het
Ttn	C	T	2: 76,939,221	V2695I	probably damaging	Het
Tut1	C	A	19: 8,955,450	T49N	probably benign	Het
Vmn1r17	A	G	6: 57,360,843	V130A	probably benign	Het
Xdh	G	A	17: 73,925,011	R235C	probably damaging	Het
Yipf4	A	G	17: 74,492,475	D70G	probably null	Het
Zfp108	G	T	7: 24,260,738	K251N	probably benign	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
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
R7978:Aox4	UTSW	1	58235207	missense	probably damaging	0.98
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
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'- CAGGTGATAGAATTTGTCGTGC -3'
(R):5'- TTCCAATGAGCTGGCCTAAG -3'

Sequencing Primer
(F):5'- AGAATTTGTCGTGCTGAAATCTG -3'
(R):5'- TGAGCTGGCCTAAGACCAG -3'

Posted On

2016-07-06