Mutagenetix > Incidental Mutation

Incidental Mutation 'R4846:Jade2'

372178

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

1200017K05Rik, Phf15

MMRRC Submission

042459-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4846 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

51704282-51748480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51711975 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 495 (T495A)

Ref Sequence

ENSEMBL: ENSMUSP00000104719 (fasta)

Gene Model

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

AlphaFold

Q6ZQF7

Predicted Effect

probably benign
Transcript: ENSMUST00000020655
AA Change: T495A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: T495A

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 benign
Transcript: ENSMUST00000109090
AA Change: T495A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: T495A

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 benign
Transcript: ENSMUST00000109091
AA Change: T495A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: T495A

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

0.0898

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.4%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9930012K11Rik	T	A	14: 70,393,392 (GRCm39)	H299L	probably damaging	Het
Abcb4	C	T	5: 8,985,180 (GRCm39)	A687V	probably benign	Het
Abtb3	A	G	10: 85,465,130 (GRCm39)	T657A	probably damaging	Het
Adam20	A	G	8: 41,248,048 (GRCm39)	T53A	probably benign	Het
Afg1l	G	A	10: 42,330,490 (GRCm39)	T59I	probably benign	Het
AI837181	A	G	19: 5,476,329 (GRCm39)	Q164R	probably benign	Het
Anapc15	T	A	7: 101,546,974 (GRCm39)	I12N	probably benign	Het
Ankrd55	A	C	13: 112,499,988 (GRCm39)	E278D	probably benign	Het
Axin2	A	G	11: 108,833,125 (GRCm39)	T437A	probably benign	Het
BC051665	T	C	13: 60,931,895 (GRCm39)	D168G	probably damaging	Het
Cd200	C	T	16: 45,212,664 (GRCm39)	R261H	probably benign	Het
Clk1	G	A	1: 58,460,261 (GRCm39)	S123L	probably benign	Het
Csrnp2	A	T	15: 100,382,571 (GRCm39)	D156E	probably damaging	Het
Ctss	C	T	3: 95,452,695 (GRCm39)	Q159*	probably null	Het
Dennd2b	C	A	7: 109,156,043 (GRCm39)	E236*	probably null	Het
Dip2a	A	G	10: 76,157,327 (GRCm39)	S93P	probably damaging	Het
Dnase1l1	C	T	X: 73,320,644 (GRCm39)		probably null	Het
Dync1h1	C	A	12: 110,624,560 (GRCm39)	T3700N	probably damaging	Het
Ephb6	G	A	6: 41,593,743 (GRCm39)	R542Q	probably benign	Het
Fmo3	T	C	1: 162,781,880 (GRCm39)	D491G	possibly damaging	Het
Galnt14	A	T	17: 73,843,888 (GRCm39)	M140K	probably benign	Het
Ghsr	T	C	3: 27,425,986 (GRCm39)	V14A	probably benign	Het
Gm17546	C	A	15: 95,727,843 (GRCm39)		probably benign	Het
Gprc5c	G	T	11: 114,755,093 (GRCm39)	V257L	possibly damaging	Het
Hc	A	G	2: 34,909,682 (GRCm39)	V866A	probably benign	Het
Hoxb6	G	A	11: 96,190,348 (GRCm39)	G116R	probably damaging	Het
Hykk	A	G	9: 54,827,890 (GRCm39)	Y43C	probably damaging	Het
Kansl1	A	T	11: 104,233,798 (GRCm39)	V755E	possibly damaging	Het
Lrp2	T	A	2: 69,309,457 (GRCm39)	D2814V	probably damaging	Het
Mbd5	T	A	2: 49,147,009 (GRCm39)	N406K	probably damaging	Het
Met	A	T	6: 17,491,928 (GRCm39)	D230V	probably damaging	Het
Mrgprx2	A	T	7: 48,132,584 (GRCm39)	V78D	probably damaging	Het
Mrpl20	A	G	4: 155,892,993 (GRCm39)	T112A	possibly damaging	Het
Nek11	T	A	9: 105,040,362 (GRCm39)	E566D	probably damaging	Het
Nostrin	T	C	2: 69,005,923 (GRCm39)	S235P	probably damaging	Het
Npas4	C	A	19: 5,036,805 (GRCm39)	S453I	probably benign	Het
Pnkp	C	T	7: 44,511,827 (GRCm39)	S113L	probably damaging	Het
Psg18	A	T	7: 18,084,711 (GRCm39)	Y128*	probably null	Het
Ptges3l	A	T	11: 101,310,010 (GRCm39)		probably benign	Het
Pus1	T	C	5: 110,927,796 (GRCm39)		probably benign	Het
Raf1	T	A	6: 115,621,544 (GRCm39)	S12C	possibly damaging	Het
Rps6-ps2	T	G	8: 89,533,206 (GRCm39)		noncoding transcript	Het
Slc5a4b	A	G	10: 75,898,073 (GRCm39)	L547P	probably damaging	Het
Socs3	A	G	11: 117,858,654 (GRCm39)	S135P	probably benign	Het
Spata31d1e	T	C	13: 59,890,047 (GRCm39)	D591G	probably benign	Het
Stra6l	G	A	4: 45,873,682 (GRCm39)	V281M	possibly damaging	Het
Suco	G	A	1: 161,661,977 (GRCm39)	T818I	possibly damaging	Het
Syde1	A	T	10: 78,424,731 (GRCm39)	V367D	probably damaging	Het
Tet3	A	T	6: 83,353,865 (GRCm39)	L932*	probably null	Het
Trpm7	G	A	2: 126,655,105 (GRCm39)	L1278F	possibly damaging	Het
Vmn1r168	A	T	7: 23,240,490 (GRCm39)	T116S	probably damaging	Het
Wfdc6b	A	G	2: 164,459,214 (GRCm39)	Q92R	possibly damaging	Het

Other mutations in Jade2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01323:Jade2	APN	11	51,716,165 (GRCm39)	missense	possibly damaging	0.95
IGL01935:Jade2	APN	11	51,719,211 (GRCm39)	missense	possibly damaging	0.95
IGL02885:Jade2	APN	11	51,722,123 (GRCm39)	missense	probably damaging	1.00
IGL02987:Jade2	APN	11	51,721,308 (GRCm39)	missense	probably damaging	1.00
IGL02990:Jade2	APN	11	51,722,074 (GRCm39)	splice site	probably benign
IGL03172:Jade2	APN	11	51,716,198 (GRCm39)	missense	probably damaging	1.00
R0116:Jade2	UTSW	11	51,722,136 (GRCm39)	missense	probably damaging	1.00
R1917:Jade2	UTSW	11	51,709,365 (GRCm39)	missense	possibly damaging	0.95
R3410:Jade2	UTSW	11	51,708,050 (GRCm39)	missense	probably benign
R3886:Jade2	UTSW	11	51,721,326 (GRCm39)	missense	possibly damaging	0.79
R4916:Jade2	UTSW	11	51,707,909 (GRCm39)	missense	probably benign	0.01
R5420:Jade2	UTSW	11	51,709,434 (GRCm39)	missense	probably benign	0.21
R5446:Jade2	UTSW	11	51,707,786 (GRCm39)	missense	probably benign
R5657:Jade2	UTSW	11	51,707,814 (GRCm39)	missense	probably damaging	1.00
R6031:Jade2	UTSW	11	51,717,413 (GRCm39)	nonsense	probably null
R6031:Jade2	UTSW	11	51,717,413 (GRCm39)	nonsense	probably null
R6116:Jade2	UTSW	11	51,726,460 (GRCm39)	missense	probably damaging	0.99
R7039:Jade2	UTSW	11	51,719,186 (GRCm39)	missense	probably damaging	0.97
R7270:Jade2	UTSW	11	51,708,011 (GRCm39)	missense	possibly damaging	0.89
R7702:Jade2	UTSW	11	51,707,744 (GRCm39)	missense	probably damaging	1.00
R7797:Jade2	UTSW	11	51,708,126 (GRCm39)	missense	probably benign	0.00
R8054:Jade2	UTSW	11	51,709,441 (GRCm39)	missense	probably benign	0.00
R8243:Jade2	UTSW	11	51,708,045 (GRCm39)	missense	probably benign
R8371:Jade2	UTSW	11	51,715,959 (GRCm39)	missense	probably benign	0.04
R8984:Jade2	UTSW	11	51,715,906 (GRCm39)	missense	probably damaging	1.00
R9020:Jade2	UTSW	11	51,708,454 (GRCm39)	missense	probably benign	0.00
R9135:Jade2	UTSW	11	51,715,951 (GRCm39)	missense	probably benign
R9143:Jade2	UTSW	11	51,715,930 (GRCm39)	missense	probably benign	0.00
Z1177:Jade2	UTSW	11	51,739,821 (GRCm39)	missense	probably null	0.20
Z1177:Jade2	UTSW	11	51,707,817 (GRCm39)	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- TCCCACGTGGATCTGTTATGTC -3'
(R):5'- AGATACTCCCTGCATGCTCAG -3'

Sequencing Primer
(F):5'- ATCTGTTATGTCCGTGAGAAGGAACC -3'
(R):5'- CTCAATTGTCTTAAGGCAGAGGG -3'

Posted On

2016-03-01