Mutagenetix > Incidental Mutation

Incidental Mutation 'R3886:Jade2'

309662

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

Phf15, 1200017K05Rik

MMRRC Submission

040798-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R3886 (G1)

Quality Score

200

Status

Not validated

Chromosome

Chromosomal Location

51813455-51857653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 51830499 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Isoleucine at position 201 (V201I)

Ref Sequence

ENSEMBL: ENSMUSP00000104719 (fasta)

Gene Model

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

AlphaFold

Q6ZQF7

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020655
AA Change: V201I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: V201I

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: V201I

PolyPhen 2 Score 0.394 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: V201I

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

possibly damaging
Transcript: ENSMUST00000109091
AA Change: V201I

PolyPhen 2 Score 0.794 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: V201I

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: 99.2%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 42 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310035C23Rik	A	G	1: 105,692,213	N331S	probably benign	Het
2410089E03Rik	T	A	15: 8,171,805	V22E	probably damaging	Het
4933407L21Rik	T	A	1: 85,940,551		probably null	Het
Adam17	G	A	12: 21,325,587	R744C	probably damaging	Het
Adss	A	G	1: 177,767,769	Y402H	probably damaging	Het
B020004J07Rik	T	C	4: 101,835,723	K360R	probably benign	Het
Ccdc73	A	T	2: 104,991,343	T546S	possibly damaging	Het
Cd22	T	C	7: 30,870,107	D354G	possibly damaging	Het
Chchd6	T	C	6: 89,467,451	E183G	probably damaging	Het
Col6a5	A	G	9: 105,930,930	L973P	unknown	Het
Cp	T	C	3: 19,989,111	L1021P	probably damaging	Het
Cps1	C	A	1: 67,165,500	T493K	possibly damaging	Het
D630045J12Rik	A	G	6: 38,142,698	V1703A	possibly damaging	Het
Dennd1a	T	C	2: 37,858,077	N376S	possibly damaging	Het
Dmxl1	T	A	18: 49,878,259	M1161K	probably damaging	Het
Ect2l	C	T	10: 18,168,458	V310M	probably damaging	Het
Fn1	T	C	1: 71,640,306	Y511C	probably damaging	Het
Foxd2	T	C	4: 114,908,286	H179R	unknown	Het
Gm8674	T	C	13: 49,902,163		noncoding transcript	Het
Ice1	T	C	13: 70,605,370	T866A	probably benign	Het
Kcnb2	T	C	1: 15,710,415	S504P	probably damaging	Het
Kcng4	T	C	8: 119,633,247	K130R	probably benign	Het
Lcor	T	A	19: 41,558,356	S126R	probably damaging	Het
Lct	T	C	1: 128,304,226	M629V	probably damaging	Het
Lrch2	C	G	X: 147,473,007	A437P	probably damaging	Het
Lrrk1	C	T	7: 66,292,364	V709I	probably damaging	Het
Mdh1	A	G	11: 21,559,832	V181A	probably damaging	Het
Olfr1243	T	A	2: 89,527,732	H226L	possibly damaging	Het
Olfr978	A	G	9: 39,994,539	H243R	probably damaging	Het
Papd5	C	A	8: 88,200,415	A151E	probably benign	Het
Ppp1r3a	A	C	6: 14,719,912	D334E	possibly damaging	Het
Ptpro	T	A	6: 137,443,594	V1007D	probably damaging	Het
Rbm45	A	G	2: 76,375,424	S207G	probably benign	Het
Robo3	G	A	9: 37,422,181	Q723*	probably null	Het
Rreb1	G	A	13: 37,898,506		probably null	Het
Slc35f2	T	A	9: 53,816,957	S372T	probably benign	Het
Slitrk5	T	A	14: 111,679,797	C284*	probably null	Het
Snapc4	G	A	2: 26,365,498	Q1005*	probably null	Het
Tnxb	A	G	17: 34,718,911	D3896G	probably damaging	Het
Tti1	A	G	2: 158,008,950	V123A	possibly damaging	Het
Usp1	T	C	4: 98,929,736	C147R	probably damaging	Het
Vill	A	G	9: 119,066,714	N106S	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
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
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'- GGTCCATTGTGCCCATGTTC -3'
(R):5'- AATGGATGGATGGAGCCTTCC -3'

Sequencing Primer
(F):5'- GTGCCCATGTTCCTGTATCCAG -3'
(R):5'- TGGCTGCAAAGCTTCCTGAG -3'

Posted On

2015-04-17