Mutagenetix > Incidental Mutation

Incidental Mutation 'R0116:Jade2'

20820

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

Phf15, 1200017K05Rik

MMRRC Submission

038402-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R0116 (G1)

Quality Score

225

Status

Validated (trace)

Chromosome

Chromosomal Location

51813455-51857653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 51831309 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Glutamine at position 139 (L139Q)

Ref Sequence

ENSEMBL: ENSMUSP00000104719 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020655] [ENSMUST00000109090] [ENSMUST00000109091]

AlphaFold

Q6ZQF7

Predicted Effect

probably damaging
Transcript: ENSMUST00000020655
AA Change: L139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: L139Q

Domain	Start	End	E-Value	Type
Pfam:EPL1	39	177	3.4e-17	PFAM
PHD	201	247	1.35e-10	SMART
PHD	310	365	1.74e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109090
AA Change: L139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: L139Q

Domain	Start	End	E-Value	Type
Pfam:EPL1	39	177	2e-17	PFAM
PHD	201	247	1.35e-10	SMART
PHD	310	365	1.74e-4	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000109091
AA Change: L139Q

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: L139Q

Domain	Start	End	E-Value	Type
Pfam:EPL1	2	176	9.6e-9	PFAM
PHD	201	247	1.35e-10	SMART
PHD	310	365	1.74e-4	SMART

Meta Mutation Damage Score

0.6467

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.7%
20x: 94.2%

Validation Efficiency

94% (95/101)

Allele List at MGI

Other mutations in this stock

Total: 95 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4931406C07Rik	A	T	9: 15,290,770	V152E	probably damaging	Het
Abca5	T	G	11: 110,276,505	E1495A	probably damaging	Het
Abcc12	G	A	8: 86,534,998	S668F	probably benign	Het
Adgrl4	A	T	3: 151,517,610	T608S	probably benign	Het
Angel2	G	A	1: 190,940,990	D255N	probably benign	Het
Apob	T	A	12: 7,989,113		probably benign	Het
Arfgef2	A	T	2: 166,873,683	R1349S	probably damaging	Het
Atp2b2	C	T	6: 113,793,695	V418I	probably damaging	Het
Birc6	C	A	17: 74,623,746		probably benign	Het
Capn13	T	A	17: 73,351,524	Y183F	probably damaging	Het
Cngb1	A	G	8: 95,260,638	S352P	probably damaging	Het
Col6a3	A	G	1: 90,813,551	S720P	probably damaging	Het
Cpa4	C	T	6: 30,579,658	R155W	probably damaging	Het
Dapk1	A	G	13: 60,761,100	I1176V	probably benign	Het
Dnah17	T	C	11: 118,058,306	E2959G	probably benign	Het
Dnah7b	T	A	1: 46,213,360	I1734N	possibly damaging	Het
Dnajb7	A	G	15: 81,407,354	Y261H	probably benign	Het
Dock2	T	C	11: 34,688,565		probably benign	Het
Dusp27	A	C	1: 166,099,701	S781A	probably benign	Het
Dyrk3	A	T	1: 131,129,839	V199E	probably damaging	Het
F2r	G	T	13: 95,604,486	C180*	probably null	Het
F5	A	G	1: 164,184,914	S466G	probably benign	Het
Fbn2	A	T	18: 58,102,373	C677*	probably null	Het
Fbxo41	A	G	6: 85,477,908	S673P	probably damaging	Het
Fhad1	G	T	4: 141,940,095	H639N	probably benign	Het
Fmnl3	G	C	15: 99,322,738		probably benign	Het
Foxa2	A	G	2: 148,043,561	S270P	probably damaging	Het
Fxyd7	C	T	7: 31,047,368		probably null	Het
Gm5225	A	G	17: 24,024,058	D67G	probably benign	Het
Grik3	G	A	4: 125,670,556	E444K	probably benign	Het
Gsdma2	A	G	11: 98,649,183	K44E	probably damaging	Het
Haus1	T	A	18: 77,762,070	K130*	probably null	Het
Heg1	A	G	16: 33,735,658		probably benign	Het
Hormad2	A	G	11: 4,412,206		probably benign	Het
Hsd17b3	G	A	13: 64,058,589	R300C	possibly damaging	Het
Irf5	T	C	6: 29,536,109	F374S	probably damaging	Het
Itch	A	G	2: 155,217,983		probably benign	Het
Kif5c	G	A	2: 49,752,239		probably benign	Het
Lama1	T	C	17: 67,776,923	Y1387H	probably benign	Het
Larp4b	A	G	13: 9,170,688	R658G	probably damaging	Het
Mcph1	C	T	8: 18,788,248	L729F	probably benign	Het
Me1	A	T	9: 86,654,667	N118K	probably benign	Het
Med13	A	G	11: 86,319,897	L473S	probably damaging	Het
Mgam	T	A	6: 40,658,987	Y359N	probably damaging	Het
Morc2b	A	G	17: 33,137,041	S586P	probably damaging	Het
Mthfr	A	G	4: 148,051,523	D310G	probably benign	Het
Mtmr7	A	T	8: 40,581,405		probably benign	Het
Mtus1	A	G	8: 40,998,477		probably benign	Het
Mus81	G	T	19: 5,486,524	A138D	probably damaging	Het
Myom2	A	T	8: 15,117,633	I1073F	probably damaging	Het
Nhsl1	A	T	10: 18,525,242	K739*	probably null	Het
Nlrp4d	T	A	7: 10,374,891	K762N	probably benign	Het
Nrap	T	C	19: 56,355,546	Y724C	probably damaging	Het
Ogn	A	T	13: 49,621,038	Y219F	possibly damaging	Het
Olfr805	T	A	10: 129,722,977	D189V	probably damaging	Het
Olfr923	T	C	9: 38,828,564	L291P	probably damaging	Het
Olfr948	A	T	9: 39,318,864	I250N	probably damaging	Het
Padi2	T	C	4: 140,926,239	V180A	probably benign	Het
Papss2	C	T	19: 32,638,368	R167*	probably null	Het
Pcbp2	T	C	15: 102,474,235		probably benign	Het
Per1	T	A	11: 69,101,880		probably benign	Het
Pik3ca	T	C	3: 32,459,945	I860T	probably damaging	Het
Pkdrej	G	A	15: 85,817,545	Q1397*	probably null	Het
Plce1	T	C	19: 38,721,821	V1133A	probably benign	Het
Pnmal1	T	G	7: 16,960,700	V160G	probably damaging	Het
Prss12	T	C	3: 123,482,774	C351R	probably damaging	Het
Qprt	A	T	7: 127,109,097	L54Q	probably damaging	Het
Raf1	C	T	6: 115,626,383	S165N	probably damaging	Het
Rere	A	G	4: 150,616,976	N1271S	probably benign	Het
Rnasel	T	A	1: 153,754,512	L258H	probably damaging	Het
Ryr2	T	C	13: 11,709,921	D2502G	probably damaging	Het
Ryr3	G	A	2: 112,803,165	S2081L	probably damaging	Het
Sc5d	G	T	9: 42,259,859	Y11*	probably null	Het
Slc25a29	A	C	12: 108,827,091	L187R	possibly damaging	Het
Slc2a7	G	A	4: 150,168,264	V454M	probably benign	Het
Slco1b2	A	T	6: 141,669,388	T340S	probably benign	Het
Smarcc1	A	G	9: 110,147,104	N153S	possibly damaging	Het
Snx1	C	A	9: 66,088,539	E516*	probably null	Het
Sptlc2	T	C	12: 87,356,680	D115G	probably benign	Het
Stard9	A	G	2: 120,634,255	N67S	probably damaging	Het
Swap70	G	A	7: 110,273,282	R368H	probably benign	Het
Tcaf3	T	C	6: 42,591,350	K691E	probably benign	Het
Tmco4	T	C	4: 139,053,920	F465S	probably damaging	Het
Tmem245	A	G	4: 56,926,213	S290P	probably benign	Het
Top2a	T	C	11: 99,003,590	T972A	probably benign	Het
Tpr	T	A	1: 150,410,147	S527R	probably damaging	Het
Traf2	T	C	2: 25,519,609	D443G	probably damaging	Het
Trim40	A	T	17: 36,883,147		probably null	Het
Trim42	A	T	9: 97,363,403	I448N	possibly damaging	Het
Ttll9	G	A	2: 152,983,134	V78M	probably damaging	Het
Vav1	C	T	17: 57,296,039	L88F	probably damaging	Het
Vps13b	A	G	15: 35,423,155	D207G	probably damaging	Het
Wdsub1	A	G	2: 59,876,665		probably null	Het
Zfp799	A	G	17: 32,821,035	W85R	possibly damaging	Het
Zfp839	A	T	12: 110,858,769		probably benign	Het

Other mutations in Jade2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Jade2	APN	11	51825338	missense	possibly damaging	0.95
IGL01935:Jade2	APN	11	51828384	missense	possibly damaging	0.95
IGL02885:Jade2	APN	11	51831296	missense	probably damaging	1.00
IGL02987:Jade2	APN	11	51830481	missense	probably damaging	1.00
IGL02990:Jade2	APN	11	51831247	splice site	probably benign
IGL03172:Jade2	APN	11	51825371	missense	probably damaging	1.00
R1917:Jade2	UTSW	11	51818538	missense	possibly damaging	0.95
R3410:Jade2	UTSW	11	51817223	missense	probably benign
R3886:Jade2	UTSW	11	51830499	missense	possibly damaging	0.79
R4846:Jade2	UTSW	11	51821148	missense	probably benign
R4916:Jade2	UTSW	11	51817082	missense	probably benign	0.01
R5420:Jade2	UTSW	11	51818607	missense	probably benign	0.21
R5446:Jade2	UTSW	11	51816959	missense	probably benign
R5657:Jade2	UTSW	11	51816987	missense	probably damaging	1.00
R6031:Jade2	UTSW	11	51826586	nonsense	probably null
R6031:Jade2	UTSW	11	51826586	nonsense	probably null
R6116:Jade2	UTSW	11	51835633	missense	probably damaging	0.99
R7039:Jade2	UTSW	11	51828359	missense	probably damaging	0.97
R7270:Jade2	UTSW	11	51817184	missense	possibly damaging	0.89
R7702:Jade2	UTSW	11	51816917	missense	probably damaging	1.00
R7797:Jade2	UTSW	11	51817299	missense	probably benign	0.00
R8054:Jade2	UTSW	11	51818614	missense	probably benign	0.00
R8243:Jade2	UTSW	11	51817218	missense	probably benign
R8371:Jade2	UTSW	11	51825132	missense	probably benign	0.04
R8984:Jade2	UTSW	11	51825079	missense	probably damaging	1.00
R9020:Jade2	UTSW	11	51817627	missense	probably benign	0.00
R9135:Jade2	UTSW	11	51825124	missense	probably benign
R9143:Jade2	UTSW	11	51825103	missense	probably benign	0.00
Z1177:Jade2	UTSW	11	51816990	missense	probably damaging	0.96
Z1177:Jade2	UTSW	11	51848994	missense	probably null	0.20

Predicted Primers

PCR Primer
(F):5'- TGCCCATTAGCCCGATGCTTAC -3'
(R):5'- ACTCTGCCTTACAGCCCTTAGGAC -3'

Sequencing Primer
(F):5'- TGACATCGAGTCCCGTGAATTAC -3'
(R):5'- GGACGTACTGTTCCTGAAGATCC -3'

Posted On

2013-04-11