Mutagenetix > Incidental Mutation

Incidental Mutation 'R9020:Jade2'

686681

Institutional Source

Beutler Lab

Gene Symbol

Jade2

Ensembl Gene

ENSMUSG00000020387

Gene Name

jade family PHD finger 2

Synonyms

1200017K05Rik, Phf15

MMRRC Submission

068850-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9020 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

51704282-51748480 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 51708454 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 572 (Q572L)

Ref Sequence

ENSEMBL: ENSMUSP00000104718 (fasta)

Gene Model

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

AlphaFold

Q6ZQF7

Predicted Effect

silent
Transcript: ENSMUST00000020655

SMART Domains

Protein: ENSMUSP00000020655
Gene: ENSMUSG00000020387

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: Q572L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000104718
Gene: ENSMUSG00000020387
AA Change: Q572L

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

silent
Transcript: ENSMUST00000109091

SMART Domains

Protein: ENSMUSP00000104719
Gene: ENSMUSG00000020387

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: 99.7%
20x: 98.9%

Validation Efficiency

97% (58/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acot11	A	G	4: 106,605,615 (GRCm39)	S586P	probably damaging	Het
Adora3	T	A	3: 105,815,141 (GRCm39)	I297N	probably damaging	Het
Adrb3	A	T	8: 27,717,947 (GRCm39)	F167L	probably damaging	Het
Apob	A	G	12: 8,063,999 (GRCm39)	Y3955C	probably damaging	Het
Atp2a1	T	C	7: 126,046,135 (GRCm39)	D963G	probably benign	Het
Btbd10	T	C	7: 112,951,057 (GRCm39)	N11S	possibly damaging	Het
Casr	A	G	16: 36,315,611 (GRCm39)	S820P	probably damaging	Het
Ccdc82	C	T	9: 13,281,915 (GRCm39)	R447C	probably damaging	Het
Cfap44	T	A	16: 44,257,522 (GRCm39)	V1019E	probably damaging	Het
Cfap65	T	C	1: 74,959,552 (GRCm39)	E866G	probably damaging	Het
Chd4	T	A	6: 125,084,469 (GRCm39)	D713E	probably damaging	Het
Ctdsp1	T	C	1: 74,434,676 (GRCm39)	F240S	possibly damaging	Het
Cyp26b1	C	T	6: 84,552,056 (GRCm39)	V361I	probably benign	Het
Dmbt1	T	A	7: 130,712,787 (GRCm39)	I1597N	possibly damaging	Het
Dnajc25	C	A	4: 59,003,470 (GRCm39)	Y80*	probably null	Het
Fbxo17	A	T	7: 28,436,782 (GRCm39)	N246Y	possibly damaging	Het
Filip1l	A	G	16: 57,391,058 (GRCm39)	T549A	probably benign	Het
Gm9758	A	C	5: 14,964,739 (GRCm39)	N35K		Het
Gtf2i	T	C	5: 134,275,415 (GRCm39)	T707A	probably benign	Het
Ifnk	T	C	4: 35,152,573 (GRCm39)	V167A	probably damaging	Het
Iqch	T	C	9: 63,432,526 (GRCm39)	M290V	probably benign	Het
Irx1	A	T	13: 72,111,548 (GRCm39)	Y20*	probably null	Het
Kcne4	T	A	1: 78,795,425 (GRCm39)	H24Q	probably benign	Het
Kcnq5	T	C	1: 21,539,463 (GRCm39)		probably benign	Het
Kcnt2	T	A	1: 140,512,049 (GRCm39)	V1068E	probably benign	Het
Klk1b27	T	A	7: 43,705,118 (GRCm39)	V95D	probably damaging	Het
Lins1	A	G	7: 66,357,961 (GRCm39)	D32G	probably damaging	Het
Mavs	A	G	2: 131,088,594 (GRCm39)	E466G	possibly damaging	Het
Mipep	T	A	14: 61,068,677 (GRCm39)	L483*	probably null	Het
Muc16	G	GAATGGCTTTCTT	9: 18,550,015 (GRCm39)		probably benign	Het
Myo1a	C	A	10: 127,549,992 (GRCm39)	Q491K	probably benign	Het
Nle1	C	G	11: 82,797,275 (GRCm39)	E146Q	probably benign	Het
Nphp3	T	C	9: 103,909,150 (GRCm39)	Y787H	probably benign	Het
Pcdh15	A	G	10: 74,481,443 (GRCm39)	S263G	probably benign	Het
Pcdhb8	T	G	18: 37,489,837 (GRCm39)	I505S	probably damaging	Het
Phtf1	C	G	3: 103,898,694 (GRCm39)	S339*	probably null	Het
Pip5k1b	T	A	19: 24,327,585 (GRCm39)	I424F	probably benign	Het
Plxna4	T	A	6: 32,211,497 (GRCm39)	T681S	possibly damaging	Het
Prdm1	A	G	10: 44,316,036 (GRCm39)	L700P	probably damaging	Het
Prtg	C	T	9: 72,799,277 (GRCm39)	T769I	probably damaging	Het
Rasgrf2	A	G	13: 92,165,146 (GRCm39)	V340A	possibly damaging	Het
Ros1	T	A	10: 52,031,023 (GRCm39)	E548D	probably benign	Het
Rsph10b	G	A	5: 143,922,283 (GRCm39)	R823Q	probably benign	Het
Scgb1b3	A	G	7: 31,075,276 (GRCm39)	E42G	probably damaging	Het
Scyl2	T	C	10: 89,488,858 (GRCm39)	N486D	probably damaging	Het
Sdr9c7	T	A	10: 127,745,659 (GRCm39)	I257N	possibly damaging	Het
Serpinb9b	A	T	13: 33,223,887 (GRCm39)	I360F	probably damaging	Het
Slc15a5	T	A	6: 138,032,704 (GRCm39)	I217F	probably benign	Het
Steap2	T	C	5: 5,723,480 (GRCm39)	S467G	probably benign	Het
Sycp1	T	C	3: 102,783,653 (GRCm39)	K607R	probably benign	Het
Tek	C	G	4: 94,708,339 (GRCm39)	P350R	probably benign	Het
Tet3	T	C	6: 83,381,418 (GRCm39)	D250G	probably damaging	Het
Trip11	A	G	12: 101,850,770 (GRCm39)	V1098A	possibly damaging	Het
Tsc2	G	T	17: 24,845,691 (GRCm39)	T209K	probably damaging	Het
Ttc6	A	G	12: 57,752,366 (GRCm39)	Y1424C	probably damaging	Het
Uchl3	A	T	14: 101,903,986 (GRCm39)	K74N	probably damaging	Het
Usp10	T	G	8: 120,667,904 (GRCm39)	S68R	probably benign	Het
Wwp1	T	C	4: 19,650,282 (GRCm39)	I295V	probably benign	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
R4846:Jade2	UTSW	11	51,711,975 (GRCm39)	missense	probably benign
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
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'- TTTCTTCTTGGCAGGCAGGC -3'
(R):5'- CTGCTCTTGCCACTGAAATGC -3'

Sequencing Primer
(F):5'- CCTCATGAAGCTGAGCA -3'
(R):5'- CAATTTAAAAAGCTGGTCCTGGGGTC -3'

Posted On

2021-11-19