Mutagenetix > Incidental Mutations

Incidental Mutation 'R6024:Doxl2'

479083

Institutional Source

Beutler Lab

Gene Symbol

Doxl2

Ensembl Gene

ENSMUSG00000068536

Gene Name

diamine oxidase-like protein 2

Synonyms

MMRRC Submission

044196-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

48974963-48978746 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 48976096 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 318 (K318N)

Ref Sequence

ENSEMBL: ENSMUSP00000139012 (fasta)

Gene Model

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000090063
AA Change: K318N

PolyPhen 2 Score 0.520 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000087517
Gene: ENSMUSG00000068536
AA Change: K318N

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: K318N

PolyPhen 2 Score 0.709 (Sensitivity: 0.86; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000139012
Gene: ENSMUSG00000068536
AA Change: K318N

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: 99.9%
3x: 99.5%
10x: 97.7%
20x: 93.0%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 55 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrv1	A	G	13: 81,476,505	F3782L	probably benign	Het
Akr1d1	T	C	6: 37,558,482	I267T	probably benign	Het
Arhgef5	T	C	6: 43,275,134	S940P	probably benign	Het
Art2b	A	G	7: 101,580,380	I104T	probably benign	Het
Avpr1a	A	G	10: 122,449,148	Y115C	probably damaging	Het
Ccdc84	T	C	9: 44,417,952	T13A	possibly damaging	Het
Cdc42bpg	T	A	19: 6,317,496	L995Q	probably damaging	Het
Clip1	T	C	5: 123,615,089	K210E	possibly damaging	Het
Cog4	C	T	8: 110,881,480	T735I	probably damaging	Het
Creb3l4	G	A	3: 90,238,699	S206L	probably damaging	Het
Csf3r	C	A	4: 126,037,517		probably null	Het
Dnah11	G	T	12: 118,030,272	S2346R	probably benign	Het
Dnaic2	A	T	11: 114,752,908	I467F	possibly damaging	Het
Dpy19l4	A	T	4: 11,276,876	M523K	probably damaging	Het
Ebf3	T	C	7: 137,200,535	D407G	probably damaging	Het
Fbn2	A	G	18: 58,076,836	I991T	probably benign	Het
Gcc1	T	C	6: 28,419,300	T345A	probably benign	Het
Gm1527	C	T	3: 28,920,603	H522Y	probably benign	Het
Gm340	C	A	19: 41,583,957	P384T	possibly damaging	Het
Gm4846	T	A	1: 166,490,127	Y240F	probably benign	Het
Hmgcl	T	C	4: 135,955,615	V126A	probably benign	Het
Ifit1bl2	G	T	19: 34,620,038	S59R	probably benign	Het
Itga6	A	G	2: 71,787,233	N32S	probably benign	Het
Macc1	T	C	12: 119,450,425	S779P	probably benign	Het
Mctp1	G	T	13: 76,385,161	L209F	probably damaging	Het
Mink1	A	G	11: 70,599,089	N97S	possibly damaging	Het
Mst1r	T	A	9: 107,908,151	V336E	probably benign	Het
Muc16	A	T	9: 18,646,671	S2775R	unknown	Het
Muc6	T	A	7: 141,641,574	T1316S	possibly damaging	Het
Myh11	T	A	16: 14,277,703	N65I	probably damaging	Het
Myo9a	A	G	9: 59,855,388	N801D	possibly damaging	Het
Nkain2	A	T	10: 31,951,285	M103K	probably damaging	Het
Nkx2-2	T	A	2: 147,184,041	Y259F	probably benign	Het
Nrxn1	T	C	17: 90,590,098	M877V	possibly damaging	Het
Nxf1	C	T	19: 8,767,744	L453F	probably damaging	Het
Pcnt	T	C	10: 76,420,037	S790G	possibly damaging	Het
Phf3	T	C	1: 30,863,226	D2G	probably damaging	Het
Phrf1	T	C	7: 141,258,985		probably benign	Het
Ptpn3	C	A	4: 57,248,653		probably null	Het
Pygl	T	C	12: 70,197,067	T625A	probably benign	Het
R3hdm2	T	A	10: 127,459,480	F239I	probably damaging	Het
Sesn1	A	T	10: 41,896,200	I242F	probably damaging	Het
Shank2	C	T	7: 144,180,031	T105I	probably benign	Het
Skint3	T	C	4: 112,290,346	F350S	possibly damaging	Het
Slco5a1	T	C	1: 12,944,070	Y320C	probably damaging	Het
Syt11	A	G	3: 88,762,109	S159P	probably benign	Het
Tanc2	G	A	11: 105,867,717	R768Q	probably damaging	Het
Tanc2	T	C	11: 105,923,672	S1981P	probably damaging	Het
Tmem200c	A	C	17: 68,841,727	D435A	possibly damaging	Het
Trappc8	A	G	18: 20,833,009	V1125A	probably damaging	Het
Ttn	A	G	2: 76,814,143	V4762A	possibly damaging	Het
Unc5d	A	G	8: 28,875,511	S149P	possibly damaging	Het
Usf3	A	T	16: 44,219,840	N1561I	probably damaging	Het
Wdr4	A	T	17: 31,501,298		probably benign	Het
Wdr49	T	G	3: 75,301,826	E612D	probably benign	Het

Other mutations in Doxl2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00950:Doxl2	APN	6	48978131	missense	possibly damaging	0.82
IGL00985:Doxl2	APN	6	48977547	missense	probably benign
IGL01556:Doxl2	APN	6	48975684	missense	possibly damaging	0.58
IGL02083:Doxl2	APN	6	48976260	missense	probably damaging	1.00
IGL02135:Doxl2	APN	6	48975564	missense	probably benign	0.11
IGL02744:Doxl2	APN	6	48975315	missense	probably benign	0.15
IGL03005:Doxl2	APN	6	48976546	nonsense	probably null
R0306:Doxl2	UTSW	6	48976086	missense	probably damaging	1.00
R0380:Doxl2	UTSW	6	48975839	missense	probably benign
R0598:Doxl2	UTSW	6	48975537	missense	probably benign	0.36
R0948:Doxl2	UTSW	6	48976344	missense	probably damaging	1.00
R1404:Doxl2	UTSW	6	48975833	missense	probably benign	0.03
R1404:Doxl2	UTSW	6	48975833	missense	probably benign	0.03
R1432:Doxl2	UTSW	6	48975654	missense	probably damaging	1.00
R1443:Doxl2	UTSW	6	48975915	missense	probably damaging	1.00
R1535:Doxl2	UTSW	6	48975464	missense	probably damaging	0.98
R1625:Doxl2	UTSW	6	48975171	missense	probably damaging	1.00
R1872:Doxl2	UTSW	6	48975620	missense	probably benign	0.00
R1960:Doxl2	UTSW	6	48975753	missense	probably damaging	1.00
R2031:Doxl2	UTSW	6	48975855	missense	probably damaging	0.99
R2049:Doxl2	UTSW	6	48977755	nonsense	probably null
R2086:Doxl2	UTSW	6	48977602	missense	probably damaging	1.00
R2144:Doxl2	UTSW	6	48975291	missense	probably benign	0.00
R2145:Doxl2	UTSW	6	48976695	missense	probably damaging	1.00
R2152:Doxl2	UTSW	6	48976539	missense	probably damaging	1.00
R2255:Doxl2	UTSW	6	48975957	missense	possibly damaging	0.75
R2973:Doxl2	UTSW	6	48976424	missense	probably benign	0.07
R2974:Doxl2	UTSW	6	48976424	missense	probably benign	0.07
R3125:Doxl2	UTSW	6	48975371	missense	probably damaging	1.00
R4321:Doxl2	UTSW	6	48976522	missense	probably damaging	1.00
R4367:Doxl2	UTSW	6	48976130	missense	probably damaging	1.00
R4532:Doxl2	UTSW	6	48978167	missense	possibly damaging	0.77
R4575:Doxl2	UTSW	6	48977568	nonsense	probably null
R4611:Doxl2	UTSW	6	48975156	missense	probably benign	0.39
R4823:Doxl2	UTSW	6	48975261	missense	probably damaging	1.00
R5320:Doxl2	UTSW	6	48975540	missense	probably damaging	1.00
R5520:Doxl2	UTSW	6	48975794	missense	possibly damaging	0.93
R5698:Doxl2	UTSW	6	48976322	missense	possibly damaging	0.94
R5765:Doxl2	UTSW	6	48978537	missense	probably damaging	1.00
R6061:Doxl2	UTSW	6	48976601	missense	probably benign	0.02
R6268:Doxl2	UTSW	6	48977682	missense	probably benign	0.01
R6564:Doxl2	UTSW	6	48977575	missense	probably benign	0.00
R6640:Doxl2	UTSW	6	48977671	missense	probably benign	0.21
R7131:Doxl2	UTSW	6	48976372	nonsense	probably null
X0013:Doxl2	UTSW	6	48977613	missense	probably benign	0.09

Predicted Primers

PCR Primer
(F):5'- CTGGCTCAGAAATATGCAGATG -3'
(R):5'- TCTGGACAGTTGATGCCAGG -3'

Sequencing Primer
(F):5'- CTCAGAAATATGCAGATGGAGAAGTG -3'
(R):5'- ACTCGTGAGTTACAGTGCC -3'

Posted On

2017-06-26