Mutagenetix > Incidental Mutation

Incidental Mutation 'R5531:Jade1'

433683

Institutional Source

Beutler Lab

Gene Symbol

Jade1

Ensembl Gene

ENSMUSG00000025764

Gene Name

jade family PHD finger 1

Synonyms

Phf17, D530048A03Rik

MMRRC Submission

043089-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5531 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

41510169-41571299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 41567946 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Asparagine at position 671 (K671N)

Ref Sequence

ENSEMBL: ENSMUSP00000127113 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026865] [ENSMUST00000163764] [ENSMUST00000168086] [ENSMUST00000170711]

AlphaFold

Q6ZPI0

Predicted Effect

probably benign
Transcript: ENSMUST00000026865
AA Change: K671N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: K671N

Domain	Start	End	E-Value	Type
Pfam:EPL1	31	182	5.3e-23	PFAM
PHD	206	252	1.91e-10	SMART
PHD	315	370	1.31e-8	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	817	831	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000163764
AA Change: K671N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: K671N

Domain	Start	End	E-Value	Type
Pfam:EPL1	31	182	5.3e-23	PFAM
PHD	206	252	1.91e-10	SMART
PHD	315	370	1.31e-8	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	817	831	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000168086
AA Change: K671N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: K671N

Domain	Start	End	E-Value	Type
Pfam:EPL1	31	182	5.3e-23	PFAM
PHD	206	252	1.91e-10	SMART
PHD	315	370	1.31e-8	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	817	831	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000170711
AA Change: K671N

PolyPhen 2 Score 0.267 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: K671N

Domain	Start	End	E-Value	Type
Pfam:EPL1	5	182	1.5e-9	PFAM
PHD	206	252	1.91e-10	SMART
PHD	315	370	1.31e-8	SMART
low complexity region	622	634	N/A	INTRINSIC
low complexity region	817	831	N/A	INTRINSIC

Meta Mutation Damage Score

0.0593

Coding Region Coverage

1x: 98.6%
3x: 97.5%
10x: 95.6%
20x: 92.2%

Validation Efficiency

97% (64/66)

MGI Phenotype

PHENOTYPE: Though mice homozygous for mutations of this locus show no overt phenotype at birth, fewer survive to weaning than expected by Mendelian ratios. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acacb	T	C	5: 114,342,767 (GRCm39)	F878L	possibly damaging	Het
Acr	T	A	15: 89,458,146 (GRCm39)	Y276N	probably damaging	Het
AI987944	A	T	7: 41,023,814 (GRCm39)	Y388*	probably null	Het
Ankrd29	G	A	18: 12,412,835 (GRCm39)	T114I	probably damaging	Het
Ap5z1	T	C	5: 142,453,536 (GRCm39)	M168T	probably benign	Het
Bard1	A	C	1: 71,085,880 (GRCm39)	C608W	probably damaging	Het
Brd10	A	G	19: 29,731,072 (GRCm39)	S647P	possibly damaging	Het
Clspn	A	G	4: 126,471,566 (GRCm39)	R907G	probably benign	Het
Cubn	C	T	2: 13,355,743 (GRCm39)	V1830I	probably benign	Het
Cwc22	T	C	2: 77,754,913 (GRCm39)	N221S	probably damaging	Het
Dact3	A	G	7: 16,609,540 (GRCm39)	E64G	possibly damaging	Het
Dhx40	T	C	11: 86,680,330 (GRCm39)	E381G	possibly damaging	Het
Dnah7a	A	G	1: 53,458,907 (GRCm39)	S3744P	possibly damaging	Het
Epha4	A	G	1: 77,351,513 (GRCm39)	V914A	probably benign	Het
Fbxw10	G	A	11: 62,753,482 (GRCm39)	C492Y	probably damaging	Het
G930045G22Rik	C	A	6: 50,824,756 (GRCm39)		noncoding transcript	Het
Gm21103	A	T	14: 17,484,855 (GRCm39)	I63K	probably damaging	Het
Gpr156	T	C	16: 37,825,619 (GRCm39)	V612A	probably benign	Het
Gucy2g	A	G	19: 55,229,572 (GRCm39)	S33P	probably benign	Het
Hibch	A	G	1: 52,884,228 (GRCm39)		probably benign	Het
Hmcn1	A	T	1: 150,619,539 (GRCm39)	C1192S	probably damaging	Het
Hsd11b1	CGG	CG	1: 192,922,557 (GRCm39)		probably null	Het
Ifi214	A	G	1: 173,352,686 (GRCm39)	Y248H	probably damaging	Het
Igf2bp2	T	G	16: 21,907,835 (GRCm39)	I89L	probably damaging	Het
Il2ra	A	T	2: 11,681,703 (GRCm39)	T103S	possibly damaging	Het
Ino80	T	A	2: 119,276,056 (GRCm39)	M407L	probably benign	Het
Lca5	C	T	9: 83,280,648 (GRCm39)	S384N	probably benign	Het
Lce1l	G	T	3: 92,757,804 (GRCm39)	P18H	unknown	Het
Lrrc8d	T	C	5: 105,945,536 (GRCm39)		probably benign	Het
Ly75	T	C	2: 60,195,489 (GRCm39)	N223S	probably damaging	Het
Mcm3	A	T	1: 20,873,768 (GRCm39)	F784Y	possibly damaging	Het
Ncf4	T	G	15: 78,144,988 (GRCm39)		probably benign	Het
Ncoa1	T	A	12: 4,303,746 (GRCm39)	M1362L	probably benign	Het
Or1e16	T	C	11: 73,286,003 (GRCm39)	T282A	probably benign	Het
Or5p5	A	G	7: 107,414,451 (GRCm39)	Y220C	probably benign	Het
Or6c8b	G	C	10: 128,882,433 (GRCm39)	F166L	probably damaging	Het
Prkg2	T	C	5: 99,115,593 (GRCm39)	R543G	probably damaging	Het
Ptprd	A	C	4: 75,977,904 (GRCm39)		probably null	Het
Scap	A	G	9: 110,210,497 (GRCm39)	S969G	possibly damaging	Het
Sgk2	T	C	2: 162,836,624 (GRCm39)	F60S	probably benign	Het
Sgpp1	G	T	12: 75,781,981 (GRCm39)	Y119*	probably null	Het
Siglech	A	T	7: 55,418,413 (GRCm39)	K31*	probably null	Het
Slc40a1	A	G	1: 45,951,498 (GRCm39)	Y220H	probably damaging	Het
Smurf2	G	A	11: 106,743,389 (GRCm39)	T219M	possibly damaging	Het
Speer4f2	A	G	5: 17,581,526 (GRCm39)	K156R	possibly damaging	Het
Spp1	T	G	5: 104,588,424 (GRCm39)	D276E	probably benign	Het
Stk32b	T	C	5: 37,617,078 (GRCm39)		probably null	Het
Stxbp5	G	A	10: 9,638,668 (GRCm39)	Q1044*	probably null	Het
Sv2c	T	A	13: 96,097,886 (GRCm39)	T696S	probably damaging	Het
Tubgcp2	A	C	7: 139,584,937 (GRCm39)		probably null	Het
Ubap1l	C	T	9: 65,278,973 (GRCm39)	P91S	probably damaging	Het
Vmn2r76	A	T	7: 85,874,657 (GRCm39)	D773E	probably damaging	Het
Xirp2	C	G	2: 67,345,646 (GRCm39)	S2629C	probably benign	Het
Zbtb20	C	A	16: 43,431,230 (GRCm39)	C580*	probably null	Het
Zfp957	T	A	14: 79,450,622 (GRCm39)	Q392H	unknown	Het
Zfyve19	C	T	2: 119,042,427 (GRCm39)	T178M	probably damaging	Het
Zswim6	T	C	13: 107,906,128 (GRCm39)		noncoding transcript	Het

Other mutations in Jade1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01482:Jade1	APN	3	41,567,937 (GRCm39)	missense	probably benign	0.01
IGL01564:Jade1	APN	3	41,551,084 (GRCm39)	missense	possibly damaging	0.91
IGL02428:Jade1	APN	3	41,568,374 (GRCm39)	missense	probably benign	0.03
IGL03080:Jade1	APN	3	41,554,510 (GRCm39)	nonsense	probably null
R0763:Jade1	UTSW	3	41,568,218 (GRCm39)	missense	possibly damaging	0.93
R1539:Jade1	UTSW	3	41,559,431 (GRCm39)	missense	probably benign	0.00
R1576:Jade1	UTSW	3	41,546,242 (GRCm39)	missense	probably damaging	1.00
R1826:Jade1	UTSW	3	41,567,648 (GRCm39)	missense	probably damaging	1.00
R2143:Jade1	UTSW	3	41,559,143 (GRCm39)	missense	probably benign
R2255:Jade1	UTSW	3	41,546,185 (GRCm39)	missense	probably damaging	1.00
R2843:Jade1	UTSW	3	41,559,280 (GRCm39)	missense	probably damaging	0.98
R2962:Jade1	UTSW	3	41,567,762 (GRCm39)	missense	probably benign
R3963:Jade1	UTSW	3	41,555,845 (GRCm39)	missense	probably damaging	0.98
R4753:Jade1	UTSW	3	41,551,106 (GRCm39)	nonsense	probably null
R4971:Jade1	UTSW	3	41,555,836 (GRCm39)	missense	probably damaging	1.00
R5278:Jade1	UTSW	3	41,543,444 (GRCm39)	missense	possibly damaging	0.84
R5327:Jade1	UTSW	3	41,568,413 (GRCm39)	missense	possibly damaging	0.60
R5384:Jade1	UTSW	3	41,546,137 (GRCm39)	missense	probably damaging	1.00
R5385:Jade1	UTSW	3	41,546,137 (GRCm39)	missense	probably damaging	1.00
R5566:Jade1	UTSW	3	41,559,338 (GRCm39)	missense	possibly damaging	0.77
R5776:Jade1	UTSW	3	41,568,227 (GRCm39)	missense	probably benign	0.27
R6299:Jade1	UTSW	3	41,568,160 (GRCm39)	missense	probably damaging	1.00
R6520:Jade1	UTSW	3	41,558,917 (GRCm39)	missense	possibly damaging	0.46
R7481:Jade1	UTSW	3	41,559,125 (GRCm39)	missense	probably benign
R7951:Jade1	UTSW	3	41,546,190 (GRCm39)	missense	probably damaging	0.99
R8006:Jade1	UTSW	3	41,568,124 (GRCm39)	missense	probably benign
R8175:Jade1	UTSW	3	41,567,723 (GRCm39)	missense	probably benign	0.27
R8382:Jade1	UTSW	3	41,519,369 (GRCm39)	splice site	probably null
R8493:Jade1	UTSW	3	41,559,113 (GRCm39)	missense	possibly damaging	0.60
R8985:Jade1	UTSW	3	41,568,148 (GRCm39)	missense	probably benign	0.05
R9018:Jade1	UTSW	3	41,564,292 (GRCm39)	missense	probably benign	0.09
R9679:Jade1	UTSW	3	41,567,569 (GRCm39)	missense	probably damaging	0.98
X0026:Jade1	UTSW	3	41,567,848 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TCCCATAAACGAGATGCAGTG -3'
(R):5'- CTAGGGAGCCATTGCACTTG -3'

Sequencing Primer
(F):5'- CGCATAAGCAGCCAGGTCTTTG -3'
(R):5'- CATTGCACTTGGGCACAATC -3'

Posted On

2016-10-06