Mutagenetix > Incidental Mutation

Incidental Mutation 'R9492:Aoc1l1'

716992

Institutional Source

Beutler Lab

Gene Symbol

Aoc1l1

Ensembl Gene

ENSMUSG00000068536

Gene Name

amine oxidase copper containing 1-like 1

Synonyms

Doxl2

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9492 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48951897-48955680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 48955540 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 717 (S717P)

Ref Sequence

ENSEMBL: ENSMUSP00000139012 (fasta)

Gene Model

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

AlphaFold

Q6IMK7

Predicted Effect

probably benign
Transcript: ENSMUST00000090063

SMART Domains

Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536

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

probably benign
Transcript: ENSMUST00000184917
AA Change: S717P

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: S717P

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

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
3110009E18Rik	A	C	1: 120,078,472 (GRCm39)	K43T	probably damaging	Het
Abca12	A	G	1: 71,297,380 (GRCm39)	V2370A	possibly damaging	Het
Abca13	T	A	11: 9,243,667 (GRCm39)	C1843*	probably null	Het
Abr	C	T	11: 76,399,751 (GRCm39)	S82N	probably benign	Het
Acot2	T	C	12: 84,039,384 (GRCm39)	S298P	probably benign	Het
Acrbp	A	G	6: 125,038,062 (GRCm39)	D421G	probably benign	Het
Adam25	A	T	8: 41,206,736 (GRCm39)	M1L	probably benign	Het
Ano8	A	G	8: 71,934,784 (GRCm39)	V441A	possibly damaging	Het
Atg2b	T	C	12: 105,624,549 (GRCm39)	H650R	probably benign	Het
Atp11a	C	T	8: 12,894,490 (GRCm39)	T695I	probably damaging	Het
AU018091	A	G	7: 3,214,023 (GRCm39)	S74P	probably benign	Het
Cadps2	A	G	6: 23,427,238 (GRCm39)	Y597H	probably benign	Het
Ccdc15	C	T	9: 37,215,665 (GRCm39)	E619K	probably damaging	Het
Ceacam11	G	T	7: 17,709,468 (GRCm39)	C222F	probably benign	Het
Cmya5	T	C	13: 93,177,822 (GRCm39)	*3677W	probably null	Het
Col11a1	G	C	3: 114,005,752 (GRCm39)	C1628S	probably benign	Het
Dhx8	T	C	11: 101,654,808 (GRCm39)	I1032T	possibly damaging	Het
Dpp10	T	C	1: 123,281,159 (GRCm39)	D630G	probably damaging	Het
Eci3	C	T	13: 35,143,976 (GRCm39)	G50R	probably benign	Het
Eif2a	A	G	3: 58,448,475 (GRCm39)	T103A	probably benign	Het
Frem1	T	C	4: 82,920,057 (GRCm39)	E432G	probably damaging	Het
Gdnf	C	T	15: 7,840,423 (GRCm39)		probably benign	Het
Hace1	T	A	10: 45,547,230 (GRCm39)	M471K	probably benign	Het
Hydin	A	G	8: 111,326,877 (GRCm39)	T4739A	possibly damaging	Het
Ilf2	A	G	3: 90,394,570 (GRCm39)	I320V	probably benign	Het
Iqgap3	C	A	3: 88,016,176 (GRCm39)	F986L	probably damaging	Het
Klhl21	T	C	4: 152,093,419 (GRCm39)	L7S	probably benign	Het
Lrrc61	G	T	6: 48,545,761 (GRCm39)	E195*	probably null	Het
Maz	G	T	7: 126,622,292 (GRCm39)	A443E	possibly damaging	Het
Mcm5	C	T	8: 75,844,168 (GRCm39)	S313F	probably benign	Het
Mtor	T	A	4: 148,568,801 (GRCm39)	L1107Q	probably damaging	Het
Nectin3	T	C	16: 46,215,511 (GRCm39)	H494R	probably benign	Het
Nlgn1	G	T	3: 25,488,480 (GRCm39)	Y618*	probably null	Het
Nup98	C	T	7: 101,778,252 (GRCm39)	E1372K	probably benign	Het
Or12e9	A	G	2: 87,201,960 (GRCm39)	N28S	probably benign	Het
Or5af1	T	C	11: 58,722,610 (GRCm39)	V210A	probably benign	Het
Otud6b	A	G	4: 14,818,349 (GRCm39)	I184T	probably damaging	Het
Pcsk6	A	G	7: 65,697,346 (GRCm39)	N891S	probably benign	Het
Pde4a	T	A	9: 21,106,096 (GRCm39)	L237Q	probably damaging	Het
Peg10	CCACATCAGGATCCACATCAGGATGCACATCAGCATCAGGATCCCCATCAGGATGCACATCAGGATCCACATCAGGATGCACATCAG	CCACATCAGGATCCACATCAGGATGCACATCAG	6: 4,756,398 (GRCm39)		probably benign	Het
Perm1	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	TGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCTGAGCCTGACACGGCTTTGTCTACACCCGCCTCT	4: 156,302,525 (GRCm39)		probably benign	Het
Pou3f1	A	G	4: 124,552,179 (GRCm39)	H227R	possibly damaging	Het
Prss53	G	A	7: 127,488,802 (GRCm39)	R31C	probably damaging	Het
Psmb8	T	A	17: 34,417,435 (GRCm39)	D21E	probably benign	Het
Ptprq	A	G	10: 107,478,813 (GRCm39)	Y1277H	probably damaging	Het
Rexo2	T	C	9: 48,380,176 (GRCm39)	T219A	probably benign	Het
Rfc3	A	G	5: 151,566,411 (GRCm39)	F346S	probably damaging	Het
Rhoq	A	T	17: 87,304,373 (GRCm39)	Q168L		Het
Sgk1	A	G	10: 21,874,096 (GRCm39)	N452S	probably damaging	Het
Slc35f3	A	G	8: 127,048,026 (GRCm39)	K122R	probably damaging	Het
Slc4a2	T	A	5: 24,644,761 (GRCm39)	M1021K	probably benign	Het
Sorcs2	A	G	5: 36,186,484 (GRCm39)	V886A	probably benign	Het
Spata20	T	A	11: 94,374,444 (GRCm39)	M308L	probably damaging	Het
Spen	A	T	4: 141,199,098 (GRCm39)	H3176Q	probably benign	Het
Stat5b	T	A	11: 100,692,361 (GRCm39)	H141L	probably benign	Het
Syne2	T	A	12: 75,995,839 (GRCm39)	H2126Q	possibly damaging	Het
Traj46	A	G	14: 54,409,851 (GRCm39)	T20A		Het
Trim30a	G	T	7: 104,078,330 (GRCm39)	Q249K	probably damaging	Het
Trmt13	A	G	3: 116,388,281 (GRCm39)	Y52H	probably benign	Het
Trpv3	A	G	11: 73,187,267 (GRCm39)	I700V	probably damaging	Het
Tyr	G	A	7: 87,121,704 (GRCm39)	H363Y	probably damaging	Het
Tyr	C	G	7: 87,121,705 (GRCm39)	M362I	possibly damaging	Het
Ubb	G	A	11: 62,442,984 (GRCm39)	V5M	probably damaging	Het
Unc5a	T	C	13: 55,150,288 (GRCm39)	L519P	probably damaging	Het
Uso1	A	G	5: 92,315,191 (GRCm39)	D185G	possibly damaging	Het
Vmn1r228	C	T	17: 20,996,862 (GRCm39)	E219K	probably damaging	Het
Wdr49	A	G	3: 75,240,669 (GRCm39)	V400A	probably damaging	Het
Zfp292	A	G	4: 34,810,794 (GRCm39)	M755T	probably benign	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
R1535:Aoc1l1	UTSW	6	48,952,398 (GRCm39)	missense	probably damaging	0.98
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
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'- TCTCTCCCACAGGATTTGGTG -3'
(R):5'- CTGTATACAGATCCCATGGCC -3'

Sequencing Primer
(F):5'- GGCCTGGGTGACAGTAGG -3'
(R):5'- CCATGGCCACATATCTGAGTATGTG -3'

Posted On

2022-07-18