Mutagenetix > Incidental Mutation

Incidental Mutation 'R8371:Jade2'

646399

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

Phf15, 1200017K05Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8371 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

51813455-51857653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51825132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Aspartic acid at position 415 (E415D)

Ref Sequence

ENSEMBL: ENSMUSP00000020655 (fasta)

Gene Model

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

AlphaFold

Q6ZQF7

Predicted Effect

probably benign
Transcript: ENSMUST00000020655
AA Change: E415D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: E415D

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: E415D

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: E415D

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: E415D

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: E415D

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: 100.0%
3x: 99.9%
10x: 99.6%
20x: 98.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca8a	G	T	11: 110,054,647	Q1050K	probably benign	Het
B4galt5	A	G	2: 167,309,225	M121T	probably damaging	Het
Birc3	A	G	9: 7,849,426	L549P	probably damaging	Het
Cacna1b	T	C	2: 24,720,024	N368S	possibly damaging	Het
Cbr1	A	G	16: 93,609,891	E165G	probably damaging	Het
Ccdc178	T	C	18: 21,811,504	D866G	possibly damaging	Het
Cd40	G	A	2: 165,066,538	G178E	probably damaging	Het
Cers1	T	A	8: 70,329,573	L349H	probably benign	Het
Chd8	T	C	14: 52,232,818	K445R	probably benign	Het
Clca3a2	G	T	3: 144,807,353	S477*	probably null	Het
Clec4a1	T	A	6: 122,933,923	*246R	probably null	Het
CN725425	T	C	15: 91,240,770	I171T	probably benign	Het
Crybg3	A	G	16: 59,557,051	M1280T	probably benign	Het
Csf1r	A	T	18: 61,117,591	Q458L	probably benign	Het
Cyp3a11	A	T	5: 145,868,628	V193E	possibly damaging	Het
Cys1	A	G	12: 24,668,695	I53T	probably benign	Het
Dhrs3	A	C	4: 144,919,383		probably null	Het
Dhx57	T	C	17: 80,275,490	R229G	probably benign	Het
Dhx9	T	C	1: 153,456,215	N1336D	unknown	Het
Dmgdh	T	A	13: 93,708,730	H410Q	probably benign	Het
Dmxl1	T	A	18: 49,898,714	M2225K	probably benign	Het
Eif4g3	T	G	4: 138,096,845	Y80D	probably damaging	Het
Ephx4	A	T	5: 107,413,518	I164F	possibly damaging	Het
Eppk1	C	T	15: 76,110,119	R854Q	probably benign	Het
Fhl4	G	A	10: 85,098,773	A48V	probably benign	Het
Fmn2	T	C	1: 174,609,607	L1048S	unknown	Het
Gemin5	T	C	11: 58,126,558	M1212V	probably benign	Het
Gm9195	C	T	14: 72,460,459	V1294I	probably benign	Het
Gpr55	A	T	1: 85,941,127	V244E	probably damaging	Het
Hgfac	T	A	5: 35,045,443	F429Y	probably damaging	Het
Kcnj4	T	A	15: 79,485,141	I213F	probably damaging	Het
Kcnq5	G	A	1: 21,479,424	R360C	probably damaging	Het
Klhl33	C	T	14: 50,892,232	R312Q	probably damaging	Het
Krt82	T	C	15: 101,545,111	E280G	probably benign	Het
Lemd1	C	A	1: 132,228,949	Q40K	probably damaging	Het
Lmo7	T	C	14: 101,887,008	L423P	possibly damaging	Het
Lrp8	A	G	4: 107,869,071	Y773C	probably damaging	Het
Miga2	AAGAG	AAG	2: 30,375,743		probably null	Het
Mroh8	A	T	2: 157,252,976	Y363*	probably null	Het
Olfr135	G	A	17: 38,208,298	A18T	probably benign	Het
Olfr485	G	A	7: 108,159,228	T215I	probably benign	Het
Olfr559	C	A	7: 102,723,583	K302N	probably damaging	Het
Pcdha2	T	C	18: 36,940,263	Y316H	possibly damaging	Het
Pcdha6	T	A	18: 36,969,867	C704*	probably null	Het
Pik3c2g	G	A	6: 139,936,056	V923M	unknown	Het
Rhd	A	G	4: 134,876,383	S72G	probably benign	Het
Rhot1	T	C	11: 80,243,466	L295P	probably damaging	Het
Rrp1b	A	G	17: 32,049,484	E139G	possibly damaging	Het
Scnn1a	T	G	6: 125,343,843	Y620D	possibly damaging	Het
Serpinb12	A	T	1: 106,956,405	I294L	probably benign	Het
Serpinb3d	T	C	1: 107,080,739	D132G	probably damaging	Het
Slc26a3	A	T	12: 31,452,542	D254V	probably damaging	Het
Srrm1	A	T	4: 135,325,221	I614N	unknown	Het
Stt3b	A	G	9: 115,266,175	Y263H	probably damaging	Het
Taf7	T	A	18: 37,643,499	K5I	probably damaging	Het
Tbck	C	A	3: 132,752,524	H638Q	possibly damaging	Het
Tnfsf9	A	C	17: 57,105,541	D37A	probably benign	Het
Trim71	C	A	9: 114,515,789	V354F	probably benign	Het
Tspoap1	T	G	11: 87,778,301	C1467G	probably benign	Het
Xirp1	C	T	9: 120,019,433	R128Q	possibly damaging	Het
Zc3h12d	GCCC	GCC	10: 7,839,971		probably null	Het
Zfhx2	T	C	14: 55,064,092	D2145G	probably damaging	Het
Zfy2	T	C	Y: 2,117,168	T220A	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
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
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'- GCAGGTGGGTGAAAAGCTTC -3'
(R):5'- CTTTGACCGAGGCCTGGAAATG -3'

Sequencing Primer
(F):5'- GTGAAAAGCTTCAGGCGTC -3'
(R):5'- GAGGTCAAGTTCAAGTCACTTTGCC -3'

Posted On

2020-09-02