Mutagenetix > Incidental Mutation

Incidental Mutation 'R9630:Aoc1l1'

725425

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 #

R9630 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

48951897-48955680 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 48952756 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 227 (D227G)

Ref Sequence

ENSEMBL: ENSMUSP00000139012 (fasta)

Gene Model

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

AlphaFold

Q6IMK7

Predicted Effect

SMART Domains

Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: D227G

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 damaging
Transcript: ENSMUST00000184917
AA Change: D227G

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: D227G

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: 99.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 70 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap17	A	G	7: 122,907,540 (GRCm39)	M274T	probably benign	Het
Bco2	T	C	9: 50,456,757 (GRCm39)	T128A	possibly damaging	Het
Bcr	T	A	10: 74,966,950 (GRCm39)	L519Q	probably damaging	Het
Cadps2	A	T	6: 23,587,571 (GRCm39)	S306R	probably benign	Het
Cage1	T	C	13: 38,206,855 (GRCm39)	E330G	probably damaging	Het
Ccdc8	A	G	7: 16,728,733 (GRCm39)	K74R	possibly damaging	Het
Cdc42ep2	C	A	19: 5,968,363 (GRCm39)	G114V		Het
Celsr3	T	C	9: 108,704,296 (GRCm39)	S260P	probably benign	Het
Clic4	G	A	4: 134,944,476 (GRCm39)	T233I	probably damaging	Het
Clip2	C	A	5: 134,531,934 (GRCm39)	D624Y	probably damaging	Het
Clock	A	G	5: 76,393,281 (GRCm39)	S221P	probably benign	Het
Creb3l2	G	T	6: 37,356,808 (GRCm39)	S86R	possibly damaging	Het
Cspp1	G	A	1: 10,108,292 (GRCm39)		probably benign	Het
Dusp13b	A	T	14: 21,784,974 (GRCm39)	N128K	probably benign	Het
Efnb2	T	C	8: 8,670,617 (GRCm39)	S328G	probably damaging	Het
Egf	A	G	3: 129,518,844 (GRCm39)	L335P	possibly damaging	Het
Eml4	T	A	17: 83,717,572 (GRCm39)	V48D	probably damaging	Het
Fat2	A	C	11: 55,147,605 (GRCm39)	V3879G	probably benign	Het
Fcgbpl1	T	C	7: 27,836,624 (GRCm39)	L181P	probably damaging	Het
Flnb	T	A	14: 7,926,438 (GRCm38)	Y1827*	probably null	Het
Fuca2	A	T	10: 13,378,820 (GRCm39)	Y71F	probably benign	Het
Gcn1	C	A	5: 115,741,349 (GRCm39)	H1463N	probably damaging	Het
Ifitm10	C	T	7: 141,924,909 (GRCm39)	A48T	probably damaging	Het
Iqce	T	C	5: 140,666,591 (GRCm39)	D385G	possibly damaging	Het
Kdm5b	T	A	1: 134,512,971 (GRCm39)		probably null	Het
Kdm7a	A	T	6: 39,150,239 (GRCm39)	S178T	probably damaging	Het
Mmp12	T	A	9: 7,347,516 (GRCm39)	M31K	probably benign	Het
Mon2	C	T	10: 122,874,415 (GRCm39)	R311H	probably damaging	Het
Myh15	A	G	16: 48,980,341 (GRCm39)	T1488A	probably benign	Het
Myo15a	T	A	11: 60,407,988 (GRCm39)	C3159S	probably damaging	Het
Nf1	T	C	11: 79,302,470 (GRCm39)	V346A	probably damaging	Het
Nfkbib	A	T	7: 28,461,304 (GRCm39)	Y114*	probably null	Het
Nr2c1	T	A	10: 93,998,285 (GRCm39)	D76E	probably benign	Het
Obscn	G	A	11: 58,943,397 (GRCm39)	R4251C	probably benign	Het
Or1ak2	T	C	2: 36,827,653 (GRCm39)	I174T	probably damaging	Het
Or4a74	C	A	2: 89,440,349 (GRCm39)	M32I	probably benign	Het
Or5m10b	A	G	2: 85,699,493 (GRCm39)	M186V	probably benign	Het
Or6c33	T	C	10: 129,853,410 (GRCm39)	F60S	probably damaging	Het
Or8h7	A	C	2: 86,720,956 (GRCm39)	S188A	probably damaging	Het
Pced1a	A	T	2: 130,261,109 (GRCm39)	I416N	probably benign	Het
Pdzd2	G	T	15: 12,374,443 (GRCm39)	D1897E	probably benign	Het
Pign	A	T	1: 105,481,591 (GRCm39)	F802I	probably benign	Het
Pik3c2g	C	A	6: 139,599,237 (GRCm39)	Q118K	possibly damaging	Het
Plcl2	A	G	17: 50,947,147 (GRCm39)	M1009V	probably benign	Het
Ppil6	T	A	10: 41,370,550 (GRCm39)	D59E	probably benign	Het
Rad23a	T	C	8: 85,564,919 (GRCm39)	D152G	probably benign	Het
Rif1	A	G	2: 51,979,607 (GRCm39)	I430V	probably damaging	Het
Rint1	T	C	5: 24,020,810 (GRCm39)	V611A	possibly damaging	Het
Rsf1	GGCG	GGCGACGGCCGCG	7: 97,229,113 (GRCm39)		probably benign	Het
Sall4	A	G	2: 168,596,408 (GRCm39)	S811P	probably benign	Het
Scaf11	G	A	15: 96,316,049 (GRCm39)	P1172S	probably damaging	Het
Sel1l3	T	G	5: 53,342,117 (GRCm39)	N368H	possibly damaging	Het
Sele	C	A	1: 163,879,523 (GRCm39)	P352Q	probably damaging	Het
Serpinf1	T	A	11: 75,301,852 (GRCm39)	T268S	probably benign	Het
Sez6	G	A	11: 77,865,121 (GRCm39)	E623K	possibly damaging	Het
Sis	A	T	3: 72,828,722 (GRCm39)	N1152K	probably benign	Het
Slc16a13	T	C	11: 70,108,597 (GRCm39)	E411G	possibly damaging	Het
Slc22a23	T	C	13: 34,379,390 (GRCm39)	N459S	possibly damaging	Het
Srpk1	C	A	17: 28,819,404 (GRCm39)	K268N	probably benign	Het
Ssbp3	A	G	4: 106,895,426 (GRCm39)	Y258C	probably damaging	Het
Ssc5d	C	T	7: 4,939,426 (GRCm39)	P621S	probably damaging	Het
Strada	T	C	11: 106,077,781 (GRCm39)	Q61R	unknown	Het
Strn3	G	A	12: 51,657,013 (GRCm39)	T755I	probably damaging	Het
Taf4b	C	G	18: 14,930,077 (GRCm39)	P150A	probably damaging	Het
Tmem236	T	A	2: 14,223,815 (GRCm39)	H201Q	probably benign	Het
Top3b	A	G	16: 16,710,354 (GRCm39)	E728G	probably benign	Het
Tshr	C	T	12: 91,504,409 (GRCm39)	P449L	probably damaging	Het
Ugt2b36	C	T	5: 87,239,773 (GRCm39)	G204D	possibly damaging	Het
Vldlr	A	T	19: 27,207,623 (GRCm39)	Q37L	probably damaging	Het
Zfat	A	T	15: 67,990,793 (GRCm39)	I1031N	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
R9492:Aoc1l1	UTSW	6	48,955,540 (GRCm39)	missense	probably benign	0.02
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'- AAGCAGAGCAAAGCCTTCTC -3'
(R):5'- GTTAAAGACTTGTGGCAGCTCTG -3'

Sequencing Primer
(F):5'- TTAAAGGGGTTTTTCCTTGACACCAC -3'
(R):5'- CAGCTCTGTGTTCTTGGGAC -3'

Posted On

2022-09-12