Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01323:Jade2'

74132

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

Phf15, 1200017K05Rik

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

IGL01323

Quality Score

Status

Chromosome

Chromosomal Location

51813455-51857653 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 51825338 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 347 (T347A)

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: T347A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387
AA Change: T347A

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

possibly damaging
Transcript: ENSMUST00000109090
AA Change: T347A

PolyPhen 2 Score 0.583 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: T347A

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: T347A

PolyPhen 2 Score 0.952 (Sensitivity: 0.79; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387
AA Change: T347A

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arfgef2	A	G	2: 166,871,495	D1272G	probably damaging	Het
Ascl2	A	G	7: 142,968,388	S108P	probably benign	Het
B3gat1	T	C	9: 26,755,910	V146A	possibly damaging	Het
Barhl1	C	T	2: 28,915,546	S45N	probably benign	Het
Birc6	C	T	17: 74,622,925	A2370V	probably damaging	Het
C1qtnf7	A	G	5: 43,609,260	D67G	possibly damaging	Het
Cand2	A	G	6: 115,785,125	T171A	probably benign	Het
Ccdc77	T	C	6: 120,334,796	Q247R	probably benign	Het
Cenpp	A	T	13: 49,647,642	V100D	probably damaging	Het
Cep135	A	G	5: 76,591,765	T3A	probably benign	Het
Eef2k	T	C	7: 120,884,815		probably benign	Het
Fga	T	C	3: 83,030,211	S132P	probably damaging	Het
Gm4070	A	G	7: 105,896,802	S2348P	possibly damaging	Het
Gpr6	T	A	10: 41,071,559	N9I	possibly damaging	Het
Hacd3	A	G	9: 64,998,305	F184L	probably damaging	Het
Heatr1	T	C	13: 12,398,938	I132T	possibly damaging	Het
Igfbp7	A	G	5: 77,352,037		probably benign	Het
Ighv8-6	T	C	12: 115,165,857	D93G	possibly damaging	Het
Izumo3	A	G	4: 92,146,390		probably benign	Het
Kif18a	A	G	2: 109,298,442	T419A	probably benign	Het
Krt34	A	G	11: 100,038,780	S267P	possibly damaging	Het
Krt4	T	G	15: 101,920,281	K383Q	probably damaging	Het
Lgals7	G	T	7: 28,865,564	E42D	probably benign	Het
Morc2b	A	G	17: 33,137,319	V493A	possibly damaging	Het
Mtif2	T	A	11: 29,541,447	S557R	probably damaging	Het
Nup43	T	A	10: 7,669,556	F83I	probably benign	Het
Olfr107	G	T	17: 37,406,140	M197I	probably benign	Het
Oosp2	A	G	19: 11,647,461	L155S	probably damaging	Het
Plxnd1	T	A	6: 115,966,799	T1180S	possibly damaging	Het
Prpf39	T	A	12: 65,042,724	F79I	possibly damaging	Het
Prph	G	A	15: 99,058,636	S465N	possibly damaging	Het
Purg	A	T	8: 33,386,603	I90L	probably damaging	Het
Pxdn	C	A	12: 29,987,137	Q305K	probably benign	Het
R3hdm1	G	A	1: 128,216,543	S816N	probably benign	Het
Src	G	A	2: 157,469,503	G461R	probably damaging	Het
Tmem201	G	A	4: 149,719,588		probably benign	Het
Tnfrsf22	G	A	7: 143,643,374	P76L	probably damaging	Het
Triml1	T	C	8: 43,138,563		probably null	Het
Upp1	A	G	11: 9,136,100	*312W	probably null	Het
Wdfy3	G	T	5: 101,895,064	S1940R	probably damaging	Het
Xpc	T	C	6: 91,492,353	Y804C	probably damaging	Het
Xrn2	C	T	2: 147,034,847		probably benign	Het
Zfp106	A	T	2: 120,524,464	D1275E	possibly damaging	Het

Other mutations in Jade2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

Posted On

2013-10-07