Mutagenetix > Incidental Mutation

Incidental Mutation 'R0959:Aoc1l3'

81768

Institutional Source

Beutler Lab

Gene Symbol

Aoc1l3

Ensembl Gene

ENSMUSG00000039215

Gene Name

amine oxidase copper containing 1-like 3

Synonyms

SVS I, Svs1

MMRRC Submission

039088-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.055) question?

Stock #

R0959 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

48963795-48968656 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 48965566 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 525 (C525S)

Ref Sequence

ENSEMBL: ENSMUSP00000045221 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000037696]

AlphaFold

Q6WIZ7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000037696
AA Change: C525S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000045221
Gene: ENSMUSG00000039215
AA Change: C525S

Domain	Start	End	E-Value	Type
Pfam:Cu_amine_oxidN2	44	130	1.5e-24	PFAM
Pfam:Cu_amine_oxidN3	146	246	2.7e-16	PFAM
internal_repeat_1	286	342	7.28e-22	PROSPERO
Pfam:Cu_amine_oxid	408	811	2e-92	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000203494

Coding Region Coverage

1x: 99.6%
3x: 98.7%
10x: 95.8%
20x: 89.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Actl11	T	C	9: 107,808,434 (GRCm39)	V919A	probably damaging	Het
Adam28	G	A	14: 68,845,387 (GRCm39)	P761L	possibly damaging	Het
Aplf	G	A	6: 87,623,065 (GRCm39)	P338L	probably benign	Het
Arl5b	T	A	2: 15,077,942 (GRCm39)	I89N	probably damaging	Het
Asap2	T	C	12: 21,297,320 (GRCm39)	V596A	probably damaging	Het
Baz1b	T	G	5: 135,273,076 (GRCm39)	F1400C	probably damaging	Het
Ccdc149	A	T	5: 52,542,497 (GRCm39)	L365Q	probably damaging	Het
Ccdc60	A	G	5: 116,318,870 (GRCm39)	S149P	probably damaging	Het
Ces1b	A	G	8: 93,794,775 (GRCm39)	C275R	probably damaging	Het
Creb3	T	C	4: 43,563,509 (GRCm39)	L163P	probably damaging	Het
Dhx37	T	G	5: 125,500,496 (GRCm39)	N570T	probably benign	Het
Epc1	T	C	18: 6,453,657 (GRCm39)	N223D	probably damaging	Het
Gbp5	C	T	3: 142,208,885 (GRCm39)	H143Y	possibly damaging	Het
Gfod1	A	T	13: 43,456,905 (GRCm39)	D23E	probably benign	Het
Gm7361	A	T	5: 26,467,051 (GRCm39)	E223D	possibly damaging	Het
Izumo1	A	G	7: 45,274,415 (GRCm39)	K161E	probably damaging	Het
Kcnh2	C	T	5: 24,527,670 (GRCm39)	R894H	probably damaging	Het
Lrp1b	T	C	2: 41,158,366 (GRCm39)	N1617S	possibly damaging	Het
Med13l	A	T	5: 118,892,350 (GRCm39)	E1924D	possibly damaging	Het
Mroh2a	GCCC	GC	1: 88,159,979 (GRCm39)		probably null	Het
Mtg2	T	G	2: 179,725,221 (GRCm39)	S145A	probably benign	Het
Mug2	G	A	6: 122,062,454 (GRCm39)	S1442N	probably benign	Het
Myo1b	A	T	1: 51,836,246 (GRCm39)	I315N	probably damaging	Het
Naip2	G	A	13: 100,291,386 (GRCm39)	T1184M	probably benign	Het
Naip2	T	A	13: 100,291,419 (GRCm39)	H1173L	probably benign	Het
Nsrp1	G	A	11: 76,937,285 (GRCm39)	R304*	probably null	Het
Or2a56	G	T	6: 42,932,686 (GRCm39)	V85L	probably benign	Het
Oxtr	C	T	6: 112,454,138 (GRCm39)	R42Q	probably benign	Het
Parp4	T	C	14: 56,885,576 (GRCm39)	F1552L	unknown	Het
Pigw	G	A	11: 84,769,033 (GRCm39)	H99Y	probably benign	Het
Ppp6r2	G	A	15: 89,158,379 (GRCm39)	M444I	possibly damaging	Het
Rchy1	A	G	5: 92,105,476 (GRCm39)	F82L	probably damaging	Het
Reln	A	C	5: 22,432,626 (GRCm39)	F125V	probably damaging	Het
Riok1	G	A	13: 38,241,149 (GRCm39)	E435K	probably damaging	Het
Rnf213	A	G	11: 119,343,407 (GRCm39)	R3590G	probably damaging	Het
Scart2	A	G	7: 139,874,704 (GRCm39)	E394G	probably damaging	Het
Scrib	G	C	15: 75,923,310 (GRCm39)	P1249A	probably benign	Het
Shc4	C	T	2: 125,520,607 (GRCm39)		probably null	Het
Slc12a2	T	A	18: 58,037,450 (GRCm39)	I520N	probably damaging	Het
Slc26a5	A	G	5: 22,021,959 (GRCm39)	I484T	probably benign	Het
Slc39a11	G	T	11: 113,354,899 (GRCm39)	T110K	probably benign	Het
Snd1	T	A	6: 28,884,970 (GRCm39)	S774T	probably benign	Het
Spata31d1c	C	T	13: 65,184,129 (GRCm39)	P557L	probably damaging	Het
Tada1	A	G	1: 166,216,198 (GRCm39)	D133G	probably benign	Het
Tg	A	T	15: 66,579,859 (GRCm39)	T1555S	probably damaging	Het
Thra	A	G	11: 98,644,455 (GRCm39)	E15G	possibly damaging	Het
Timd5	A	T	11: 46,427,247 (GRCm39)	R187*	probably null	Het
Ttn	T	A	2: 76,625,440 (GRCm39)	I15128F	probably damaging	Het
Ube2r2	A	G	4: 41,174,066 (GRCm39)	Y68C	probably damaging	Het
Uncx	A	T	5: 139,532,442 (GRCm39)	N169I	probably damaging	Het
Vmn2r100	A	G	17: 19,743,786 (GRCm39)	Y483C	possibly damaging	Het
Xkr4	T	C	1: 3,286,897 (GRCm39)	D431G	probably damaging	Het
Xylb	C	A	9: 119,209,091 (GRCm39)	A311E	possibly damaging	Het
Zbtb39	C	G	10: 127,578,175 (GRCm39)	Q250E	probably benign	Het
Zbtb39	C	A	10: 127,578,931 (GRCm39)	H502N	probably damaging	Het
Zfp82	A	G	7: 29,755,876 (GRCm39)	L402P	probably damaging	Het
Zpbp2	G	A	11: 98,448,451 (GRCm39)	R256Q	probably benign	Het

Other mutations in Aoc1l3

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00780:Aoc1l3	APN	6	48,964,673 (GRCm39)	missense	probably damaging	0.98
IGL01876:Aoc1l3	APN	6	48,966,970 (GRCm39)	missense	possibly damaging	0.71
IGL01934:Aoc1l3	APN	6	48,965,695 (GRCm39)	missense	probably damaging	0.97
IGL03002:Aoc1l3	APN	6	48,964,052 (GRCm39)	missense	probably benign	0.01
IGL03059:Aoc1l3	APN	6	48,964,349 (GRCm39)	missense	probably benign	0.13
IGL03213:Aoc1l3	APN	6	48,965,279 (GRCm39)	missense	possibly damaging	0.92
IGL03249:Aoc1l3	APN	6	48,965,303 (GRCm39)	missense	probably benign
IGL03365:Aoc1l3	APN	6	48,965,531 (GRCm39)	missense	probably damaging	0.97
PIT4280001:Aoc1l3	UTSW	6	48,964,054 (GRCm39)	missense	probably benign	0.01
PIT4495001:Aoc1l3	UTSW	6	48,964,710 (GRCm39)	missense	possibly damaging	0.92
R0010:Aoc1l3	UTSW	6	48,965,840 (GRCm39)	missense	probably damaging	0.99
R0528:Aoc1l3	UTSW	6	48,964,965 (GRCm39)	missense	probably benign
R0784:Aoc1l3	UTSW	6	48,964,235 (GRCm39)	missense	possibly damaging	0.78
R1173:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1174:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1175:Aoc1l3	UTSW	6	48,967,173 (GRCm39)	missense	probably damaging	1.00
R1940:Aoc1l3	UTSW	6	48,967,007 (GRCm39)	nonsense	probably null
R3115:Aoc1l3	UTSW	6	48,964,331 (GRCm39)	missense	probably damaging	0.99
R3116:Aoc1l3	UTSW	6	48,964,331 (GRCm39)	missense	probably damaging	0.99
R3808:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R3809:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R3852:Aoc1l3	UTSW	6	48,964,928 (GRCm39)	missense	possibly damaging	0.93
R4455:Aoc1l3	UTSW	6	48,964,394 (GRCm39)	missense	possibly damaging	0.56
R4898:Aoc1l3	UTSW	6	48,964,651 (GRCm39)	missense	possibly damaging	0.95
R4933:Aoc1l3	UTSW	6	48,964,426 (GRCm39)	missense	probably damaging	1.00
R5108:Aoc1l3	UTSW	6	48,965,504 (GRCm39)	missense	probably damaging	0.97
R5320:Aoc1l3	UTSW	6	48,964,509 (GRCm39)	missense	probably benign	0.02
R6053:Aoc1l3	UTSW	6	48,965,422 (GRCm39)	missense	probably benign	0.42
R6728:Aoc1l3	UTSW	6	48,965,779 (GRCm39)	missense	possibly damaging	0.86
R6922:Aoc1l3	UTSW	6	48,964,508 (GRCm39)	missense	probably damaging	0.99
R7045:Aoc1l3	UTSW	6	48,965,546 (GRCm39)	missense	possibly damaging	0.81
R7046:Aoc1l3	UTSW	6	48,964,512 (GRCm39)	missense	probably benign	0.11
R7137:Aoc1l3	UTSW	6	48,967,083 (GRCm39)	missense	probably damaging	1.00
R7267:Aoc1l3	UTSW	6	48,964,952 (GRCm39)	small deletion	probably benign
R7874:Aoc1l3	UTSW	6	48,965,600 (GRCm39)	missense	possibly damaging	0.91
R7993:Aoc1l3	UTSW	6	48,964,542 (GRCm39)	missense	possibly damaging	0.85
R8238:Aoc1l3	UTSW	6	48,966,975 (GRCm39)	missense	probably damaging	0.96
R8807:Aoc1l3	UTSW	6	48,965,188 (GRCm39)	missense	probably benign	0.30
R9036:Aoc1l3	UTSW	6	48,965,074 (GRCm39)	small deletion	probably benign
R9070:Aoc1l3	UTSW	6	48,965,329 (GRCm39)	missense	possibly damaging	0.80
R9350:Aoc1l3	UTSW	6	48,965,260 (GRCm39)	missense	probably damaging	1.00
R9451:Aoc1l3	UTSW	6	48,965,774 (GRCm39)	missense	probably damaging	1.00
R9498:Aoc1l3	UTSW	6	48,964,952 (GRCm39)	small deletion	probably benign
X0022:Aoc1l3	UTSW	6	48,965,273 (GRCm39)	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- AGACCAAATACATGGATGTGGGCTG -3'
(R):5'- AATGCGGTAATGCGCTAGGTGG -3'

Sequencing Primer
(F):5'- CGCCATCCACTACTATGACA -3'
(R):5'- GCCCTTCTGAGCTGTAGAAAG -3'

Posted On

2013-11-08