Mutagenetix > Incidental Mutation

Incidental Mutation 'R1535:Aoc1l1'

166883

Institutional Source

Beutler Lab

Gene Symbol

Aoc1l1

Ensembl Gene

ENSMUSG00000068536

Gene Name

amine oxidase copper containing 1-like 1

Synonyms

Doxl2

MMRRC Submission

039574-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R1535 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

48951897-48955680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48952398 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 108 (F108L)

Ref Sequence

ENSEMBL: ENSMUSP00000087517 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000090063] [ENSMUST00000184917]

AlphaFold

Q6IMK7

Predicted Effect

probably damaging
Transcript: ENSMUST00000090063
AA Change: F108L

PolyPhen 2 Score 0.975 (Sensitivity: 0.76; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: F108L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	44	130	1.8e-26	PFAM
Pfam:Cu_amine_oxidN3	146	246	2.5e-16	PFAM
Pfam:Cu_amine_oxid	298	708	1.3e-91	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184852

SMART Domains

Protein: ENSMUSP00000139236
Gene: ENSMUSG00000068536

Domain	Start	End	E-Value	Type
Pfam:Cu_amine_oxid	15	212	2.4e-39	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000184917
AA Change: F108L

PolyPhen 2 Score 0.747 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: F108L

Domain	Start	End	E-Value	Type
signal peptide	1	24	N/A	INTRINSIC
Pfam:Cu_amine_oxidN2	44	130	1.1e-21	PFAM
Pfam:Cu_amine_oxidN3	146	246	3.1e-14	PFAM
Pfam:Cu_amine_oxid	298	711	1.4e-96	PFAM

Meta Mutation Damage Score

0.5549

Coding Region Coverage

1x: 99.2%
3x: 98.3%
10x: 96.4%
20x: 93.2%

Validation Efficiency

100% (75/75)

Allele List at MGI

Other mutations in this stock

Total: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	T	C	1: 120,099,203 (GRCm39)	S99P	possibly damaging	Het
Abca16	T	A	7: 120,139,928 (GRCm39)	I1530N	probably benign	Het
Abcc9	T	G	6: 142,610,361 (GRCm39)	Q601P	probably damaging	Het
Acap3	A	G	4: 155,980,631 (GRCm39)		probably benign	Het
Adamts16	A	T	13: 70,939,913 (GRCm39)		probably null	Het
Alpk2	G	C	18: 65,483,275 (GRCm39)	S244R	probably benign	Het
Atp8b1	C	T	18: 64,678,335 (GRCm39)	V854M	probably damaging	Het
Bend5	C	A	4: 111,316,960 (GRCm39)	D374E	probably benign	Het
Catsperg2	T	C	7: 29,397,671 (GRCm39)	D1014G	possibly damaging	Het
Ccer2	G	T	7: 28,456,822 (GRCm39)	G189*	probably null	Het
Ces2h	A	G	8: 105,741,118 (GRCm39)	T37A	probably benign	Het
Cfap68	C	T	9: 50,675,307 (GRCm39)	R40Q	probably damaging	Het
Cmah	T	C	13: 24,623,203 (GRCm39)	F213L	probably damaging	Het
Cntn2	T	C	1: 132,453,122 (GRCm39)	E390G	probably benign	Het
Coq7	C	T	7: 118,128,897 (GRCm39)	R46Q	possibly damaging	Het
Cpb1	T	A	3: 20,320,451 (GRCm39)	D136V	probably benign	Het
Cxcr2	T	C	1: 74,198,217 (GRCm39)	L237P	probably damaging	Het
Daam1	T	C	12: 71,998,692 (GRCm39)	L549P	unknown	Het
Diaph1	A	G	18: 38,029,146 (GRCm39)		probably null	Het
Dis3	G	T	14: 99,316,862 (GRCm39)	Q825K	probably damaging	Het
Dnah11	C	T	12: 117,982,465 (GRCm39)	R2568Q	probably damaging	Het
Dnah12	A	T	14: 26,538,279 (GRCm39)	R2312S	possibly damaging	Het
Dock9	C	T	14: 121,783,476 (GRCm39)	E2041K	probably damaging	Het
Eci1	A	G	17: 24,658,064 (GRCm39)	E282G	probably benign	Het
Egf	T	A	3: 129,484,427 (GRCm39)	T464S	probably benign	Het
Eif4g3	C	T	4: 137,824,613 (GRCm39)	P97S	probably damaging	Het
Emsy	A	G	7: 98,242,944 (GRCm39)	V1065A	possibly damaging	Het
Ep400	G	T	5: 110,856,032 (GRCm39)		probably benign	Het
Fam13a	A	C	6: 58,916,332 (GRCm39)	I607S	probably damaging	Het
Fam241b	A	G	10: 61,944,728 (GRCm39)	S113P	probably damaging	Het
Fbxl21	A	T	13: 56,671,340 (GRCm39)	M1L	probably benign	Het
Fnip2	C	A	3: 79,389,072 (GRCm39)	C553F	probably damaging	Het
Frmd3	G	T	4: 73,931,995 (GRCm39)		probably benign	Het
Grm4	G	A	17: 27,653,775 (GRCm39)	S470L	probably benign	Het
Gucy2e	T	A	11: 69,117,070 (GRCm39)	I784F	probably damaging	Het
H1f10	T	C	6: 87,958,130 (GRCm39)	Y70C	probably damaging	Het
Hmcn2	A	T	2: 31,310,419 (GRCm39)	T3338S	possibly damaging	Het
Idh1	C	T	1: 65,207,697 (GRCm39)	G161R	probably damaging	Het
Idi1	T	C	13: 8,936,945 (GRCm39)		probably benign	Het
Idi2l	A	T	13: 8,990,680 (GRCm39)		probably benign	Het
Kcnq2	C	T	2: 180,776,618 (GRCm39)	G90S	probably damaging	Het
Klhl29	A	G	12: 5,134,486 (GRCm39)	Y642H	probably damaging	Het
Lmtk3	T	A	7: 45,443,994 (GRCm39)		probably benign	Het
Macf1	A	T	4: 123,334,486 (GRCm39)	F4420I	probably benign	Het
Me1	A	G	9: 86,469,096 (GRCm39)	S470P	probably damaging	Het
Mfsd2b	A	G	12: 4,920,605 (GRCm39)	S71P	probably damaging	Het
Mfsd3	T	C	15: 76,586,979 (GRCm39)	L273P	probably damaging	Het
Mical1	A	G	10: 41,361,207 (GRCm39)	K757R	possibly damaging	Het
Myh9	A	T	15: 77,662,013 (GRCm39)	V782D	probably damaging	Het
Nab2	C	G	10: 127,500,916 (GRCm39)	E59Q	probably damaging	Het
Nfyc	A	T	4: 120,618,921 (GRCm39)	N244K	probably damaging	Het
Nupr2	A	G	5: 129,937,672 (GRCm39)	I80M	probably damaging	Het
Or4c15b	T	C	2: 89,113,401 (GRCm39)	I46M	probably benign	Het
Or51f1d	A	G	7: 102,700,576 (GRCm39)	T24A	probably benign	Het
Or5a1	A	G	19: 12,097,696 (GRCm39)	C115R	probably damaging	Het
Pkn3	A	G	2: 29,977,065 (GRCm39)	T602A	probably benign	Het
Prrc2b	T	A	2: 32,094,301 (GRCm39)	V561D	probably benign	Het
Psd2	T	A	18: 36,138,843 (GRCm39)	V489E	probably benign	Het
Rasal2	T	C	1: 157,057,629 (GRCm39)	T181A	probably benign	Het
Serpinb13	T	C	1: 106,909,886 (GRCm39)	M1T	probably null	Het
Sgsm1	A	T	5: 113,411,135 (GRCm39)	S864T	possibly damaging	Het
Slc5a10	C	A	11: 61,564,767 (GRCm39)	G404V	possibly damaging	Het
Slc6a1	G	T	6: 114,284,731 (GRCm39)	G263V	probably damaging	Het
Son	A	G	16: 91,456,622 (GRCm39)	K1790E	probably damaging	Het
Spata31e5	T	C	1: 28,816,505 (GRCm39)	E509G	probably damaging	Het
Syde2	A	G	3: 145,708,176 (GRCm39)		probably benign	Het
Tmem126a	T	C	7: 90,102,026 (GRCm39)	I58V	probably benign	Het
Vmn2r8	T	C	5: 108,950,040 (GRCm39)	Y269C	probably damaging	Het
Wdr87-ps	C	T	7: 29,229,004 (GRCm39)		noncoding transcript	Het
Yeats2	T	A	16: 20,008,115 (GRCm39)	S416T	probably damaging	Het
Zfp40	A	T	17: 23,394,843 (GRCm39)	H513Q	probably damaging	Het

Other mutations in Aoc1l1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Aoc1l1	APN	6	48,955,065 (GRCm39)	missense	possibly damaging	0.82
IGL00985:Aoc1l1	APN	6	48,954,481 (GRCm39)	missense	probably benign
IGL01556:Aoc1l1	APN	6	48,952,618 (GRCm39)	missense	possibly damaging	0.58
IGL02083:Aoc1l1	APN	6	48,953,194 (GRCm39)	missense	probably damaging	1.00
IGL02135:Aoc1l1	APN	6	48,952,498 (GRCm39)	missense	probably benign	0.11
IGL02744:Aoc1l1	APN	6	48,952,249 (GRCm39)	missense	probably benign	0.15
IGL03005:Aoc1l1	APN	6	48,953,480 (GRCm39)	nonsense	probably null
R0306:Aoc1l1	UTSW	6	48,953,020 (GRCm39)	missense	probably damaging	1.00
R0380:Aoc1l1	UTSW	6	48,952,773 (GRCm39)	missense	probably benign
R0598:Aoc1l1	UTSW	6	48,952,471 (GRCm39)	missense	probably benign	0.36
R0948:Aoc1l1	UTSW	6	48,953,278 (GRCm39)	missense	probably damaging	1.00
R1404:Aoc1l1	UTSW	6	48,952,767 (GRCm39)	missense	probably benign	0.03
R1404:Aoc1l1	UTSW	6	48,952,767 (GRCm39)	missense	probably benign	0.03
R1432:Aoc1l1	UTSW	6	48,952,588 (GRCm39)	missense	probably damaging	1.00
R1443:Aoc1l1	UTSW	6	48,952,849 (GRCm39)	missense	probably damaging	1.00
R1625:Aoc1l1	UTSW	6	48,952,105 (GRCm39)	missense	probably damaging	1.00
R1872:Aoc1l1	UTSW	6	48,952,554 (GRCm39)	missense	probably benign	0.00
R1960:Aoc1l1	UTSW	6	48,952,687 (GRCm39)	missense	probably damaging	1.00
R2031:Aoc1l1	UTSW	6	48,952,789 (GRCm39)	missense	probably damaging	0.99
R2049:Aoc1l1	UTSW	6	48,954,689 (GRCm39)	nonsense	probably null
R2086:Aoc1l1	UTSW	6	48,954,536 (GRCm39)	missense	probably damaging	1.00
R2144:Aoc1l1	UTSW	6	48,952,225 (GRCm39)	missense	probably benign	0.00
R2145:Aoc1l1	UTSW	6	48,953,629 (GRCm39)	missense	probably damaging	1.00
R2152:Aoc1l1	UTSW	6	48,953,473 (GRCm39)	missense	probably damaging	1.00
R2255:Aoc1l1	UTSW	6	48,952,891 (GRCm39)	missense	possibly damaging	0.75
R2973:Aoc1l1	UTSW	6	48,953,358 (GRCm39)	missense	probably benign	0.07
R2974:Aoc1l1	UTSW	6	48,953,358 (GRCm39)	missense	probably benign	0.07
R3125:Aoc1l1	UTSW	6	48,952,305 (GRCm39)	missense	probably damaging	1.00
R4321:Aoc1l1	UTSW	6	48,953,456 (GRCm39)	missense	probably damaging	1.00
R4367:Aoc1l1	UTSW	6	48,953,064 (GRCm39)	missense	probably damaging	1.00
R4532:Aoc1l1	UTSW	6	48,955,101 (GRCm39)	missense	possibly damaging	0.77
R4575:Aoc1l1	UTSW	6	48,954,502 (GRCm39)	nonsense	probably null
R4611:Aoc1l1	UTSW	6	48,952,090 (GRCm39)	missense	probably benign	0.39
R4823:Aoc1l1	UTSW	6	48,952,195 (GRCm39)	missense	probably damaging	1.00
R5320:Aoc1l1	UTSW	6	48,952,474 (GRCm39)	missense	probably damaging	1.00
R5520:Aoc1l1	UTSW	6	48,952,728 (GRCm39)	missense	possibly damaging	0.93
R5698:Aoc1l1	UTSW	6	48,953,256 (GRCm39)	missense	possibly damaging	0.94
R5765:Aoc1l1	UTSW	6	48,955,471 (GRCm39)	missense	probably damaging	1.00
R6024:Aoc1l1	UTSW	6	48,953,030 (GRCm39)	missense	possibly damaging	0.71
R6061:Aoc1l1	UTSW	6	48,953,535 (GRCm39)	missense	probably benign	0.02
R6268:Aoc1l1	UTSW	6	48,954,616 (GRCm39)	missense	probably benign	0.01
R6564:Aoc1l1	UTSW	6	48,954,509 (GRCm39)	missense	probably benign	0.00
R6640:Aoc1l1	UTSW	6	48,954,605 (GRCm39)	missense	probably benign	0.21
R7131:Aoc1l1	UTSW	6	48,953,306 (GRCm39)	nonsense	probably null
R8678:Aoc1l1	UTSW	6	48,953,158 (GRCm39)	missense	possibly damaging	0.91
R8932:Aoc1l1	UTSW	6	48,952,428 (GRCm39)	missense	probably damaging	1.00
R9145:Aoc1l1	UTSW	6	48,952,890 (GRCm39)	missense	probably benign
R9280:Aoc1l1	UTSW	6	48,955,116 (GRCm39)	missense	possibly damaging	0.83
R9386:Aoc1l1	UTSW	6	48,952,324 (GRCm39)	missense	probably benign	0.19
R9492:Aoc1l1	UTSW	6	48,955,540 (GRCm39)	missense	probably benign	0.02
R9630:Aoc1l1	UTSW	6	48,952,756 (GRCm39)	missense	probably damaging	0.99
R9654:Aoc1l1	UTSW	6	48,952,837 (GRCm39)	missense	probably damaging	1.00
X0013:Aoc1l1	UTSW	6	48,954,547 (GRCm39)	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- TTGGCACAAAGGAGCTTGGCAC -3'
(R):5'- GCAGTCCTCTAATGAGAAGCCAGTG -3'

Sequencing Primer
(F):5'- GTTCTCAGACCTGAGCATCCAG -3'
(R):5'- TGGTGTCAAGGAAAAACCCC -3'

Posted On

2014-04-13