Mutagenetix > Incidental Mutation

Incidental Mutation 'R5446:Jade2'

429084

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

Phf15, 1200017K05Rik

MMRRC Submission

043011-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5446 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

51813455-51857653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 51816959 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 809 (V809A)

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: V809A

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

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: V809A

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

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387

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: V809A

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

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: V809A

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

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adar	A	G	3: 89,740,179	N155S	probably damaging	Het
Ak9	A	G	10: 41,420,509	D1417G	possibly damaging	Het
Ankrd52	G	T	10: 128,388,561	C736F	probably damaging	Het
Arhgap15	T	A	2: 43,828,760	H85Q	probably benign	Het
BC051142	T	C	17: 34,440,893		probably null	Het
Bcat2	G	A	7: 45,585,145	R110H	possibly damaging	Het
Bscl2	A	G	19: 8,846,200	H4R	possibly damaging	Het
Cdh2	T	C	18: 16,646,627	I126V	probably damaging	Het
Cnbd2	A	C	2: 156,367,661	E508A	possibly damaging	Het
Crb2	T	C	2: 37,795,449	I1191T	probably benign	Het
Dync2h1	T	C	9: 7,144,217	T1075A	probably benign	Het
Edil3	A	C	13: 89,184,838	H371P	possibly damaging	Het
Gm5134	T	C	10: 75,995,836	S370P	probably damaging	Het
Gm9573	T	A	17: 35,622,503		probably benign	Het
Helz	T	C	11: 107,632,204	V737A	probably damaging	Het
Klhl23	T	A	2: 69,824,238	C151S	probably damaging	Het
Krt75	T	C	15: 101,571,067	D276G	probably null	Het
Lipm	C	T	19: 34,117,887	A294V	possibly damaging	Het
Med13l	A	G	5: 118,742,397	N1185D	possibly damaging	Het
Mmp27	T	A	9: 7,573,515		probably benign	Het
Mroh2a	A	T	1: 88,254,965	N1205I	possibly damaging	Het
Npnt	A	G	3: 132,908,369	L191P	probably damaging	Het
Olfr1257	A	T	2: 89,881,549	H241L	probably damaging	Het
Paip2b	T	C	6: 83,814,862	I13V	probably benign	Het
Pcdhac2	T	A	18: 37,145,200	L411Q	probably damaging	Het
Plekhd1	A	G	12: 80,720,636	N266S	probably benign	Het
Pnpla8	A	G	12: 44,290,585	T454A	possibly damaging	Het
Prkcg	A	T	7: 3,330,264	Y675F	probably benign	Het
Pwwp2b	T	A	7: 139,255,150	I169N	probably damaging	Het
Rreb1	G	A	13: 37,898,497	R86H	possibly damaging	Het
Smok3c	A	C	5: 138,064,633	L127F	probably damaging	Het
St6galnac1	T	A	11: 116,766,269	M427L	probably benign	Het
Synm	T	C	7: 67,735,974	T205A	probably benign	Het
Ttn	A	T	2: 76,811,243	L5176Q	possibly damaging	Het
Vmn2r112	A	G	17: 22,618,250	Y564C	probably damaging	Het
Vmn2r90	A	C	17: 17,712,202	T124P	probably damaging	Het
Vpreb1	A	T	16: 16,868,690	V112E	probably damaging	Het
Zfp451	A	G	1: 33,777,528	L447S	probably damaging	Het
Zfp746	T	C	6: 48,064,173	T539A	probably damaging	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
R0116:Jade2	UTSW	11	51831309	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
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'- TAATGTCCTAGGCCAGCACAG -3'
(R):5'- GAAGGTCAGTCGGAAATCTCC -3'

Sequencing Primer
(F):5'- CGGGGTGGAATTCAGAACTCTCTC -3'
(R):5'- AAATCTCCGGGTGCTAGATCC -3'

Posted On

2016-09-06