Mutagenetix > Incidental Mutation

Incidental Mutation 'R9679:Jade1'

728403

Institutional Source

Beutler Lab

Gene Symbol

Jade1

Ensembl Gene

ENSMUSG00000025764

Gene Name

jade family PHD finger 1

Synonyms

Phf17, D530048A03Rik

MMRRC Submission

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R9679 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

41510169-41571299 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 41567569 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 546 (S546P)

Ref Sequence

ENSEMBL: ENSMUSP00000026865 (fasta)

Gene Model

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

AlphaFold

Q6ZPI0

Predicted Effect

probably damaging
Transcript: ENSMUST00000026865
AA Change: S546P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026865
Gene: ENSMUSG00000025764
AA Change: S546P

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 damaging
Transcript: ENSMUST00000163764
AA Change: S546P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000128152
Gene: ENSMUSG00000025764
AA Change: S546P

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 damaging
Transcript: ENSMUST00000168086
AA Change: S546P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000131441
Gene: ENSMUSG00000025764
AA Change: S546P

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 damaging
Transcript: ENSMUST00000170711
AA Change: S546P

PolyPhen 2 Score 0.980 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000127113
Gene: ENSMUSG00000025764
AA Change: S546P

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.2%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam6a	T	A	12: 113,509,542 (GRCm39)	N638K	probably benign	Het
Arid5a	A	G	1: 36,357,648 (GRCm39)	K188E	possibly damaging	Het
Atp11a	T	C	8: 12,909,388 (GRCm39)	I1082T	possibly damaging	Het
Bdp1	T	A	13: 100,180,285 (GRCm39)	I1845F	probably damaging	Het
Ccdc87	A	C	19: 4,891,299 (GRCm39)	E597A	probably benign	Het
Cfap53	A	T	18: 74,492,656 (GRCm39)	Q460L	possibly damaging	Het
Clcn1	G	A	6: 42,263,753 (GRCm39)	S18N	probably damaging	Het
Cntnap3	C	A	13: 64,899,562 (GRCm39)	C977F	probably damaging	Het
Colec11	C	A	12: 28,644,829 (GRCm39)	V222L	probably benign	Het
Dchs2	G	T	3: 83,261,697 (GRCm39)	S2655I	probably damaging	Het
Dnah8	A	G	17: 31,037,115 (GRCm39)	T4227A	probably benign	Het
Dock5	G	A	14: 68,018,450 (GRCm39)	R1242W	probably damaging	Het
Ebf3	T	A	7: 136,832,964 (GRCm39)	N237I	possibly damaging	Het
F2rl3	T	A	8: 73,489,661 (GRCm39)	L296Q	probably damaging	Het
Fbn2	A	G	18: 58,201,433 (GRCm39)	I1328T	probably damaging	Het
Fes	T	C	7: 80,033,050 (GRCm39)	E258G	probably benign	Het
Gins4	G	A	8: 23,717,132 (GRCm39)	A212V	probably damaging	Het
Il15	T	C	8: 83,071,094 (GRCm39)	Y7C	probably benign	Het
Il9r	T	G	11: 32,140,853 (GRCm39)	H395P	probably benign	Het
Krt72	C	T	15: 101,685,152 (GRCm39)	G469D	probably damaging	Het
Limd1	T	A	9: 123,308,457 (GRCm39)	M52K	probably damaging	Het
Mamdc2	T	C	19: 23,351,380 (GRCm39)	N182S	probably benign	Het
Mrpl14	A	G	17: 46,009,240 (GRCm39)	N113S	probably damaging	Het
Ms4a14	A	G	19: 11,280,048 (GRCm39)	S837P	possibly damaging	Het
Mtrex	A	G	13: 113,032,055 (GRCm39)	S586P	probably damaging	Het
Muc21	A	G	17: 35,930,491 (GRCm39)	S1232P	unknown	Het
Myh11	A	T	16: 14,095,436 (GRCm39)	Y109N		Het
Nfrkb	C	T	9: 31,321,385 (GRCm39)	T694M	probably benign	Het
Nlrp4b	T	G	7: 10,449,184 (GRCm39)	S462R	probably benign	Het
Or4k37	A	G	2: 111,159,345 (GRCm39)	T194A	probably benign	Het
Or52e2	T	C	7: 102,804,652 (GRCm39)	I101V	probably benign	Het
Or5g9	T	A	2: 85,552,482 (GRCm39)	H244Q	probably damaging	Het
Or5h19	A	G	16: 58,856,521 (GRCm39)	L193P	possibly damaging	Het
Or6c76	A	G	10: 129,611,882 (GRCm39)	Y33C	probably damaging	Het
Rasip1	T	C	7: 45,277,327 (GRCm39)	V45A	possibly damaging	Het
Rgs22	A	G	15: 36,087,587 (GRCm39)	S568P	probably benign	Het
Sephs1	T	A	2: 4,898,105 (GRCm39)	L172Q	probably damaging	Het
Slc16a3	T	C	11: 120,847,223 (GRCm39)	L137P	probably damaging	Het
Slc22a4	T	C	11: 53,881,599 (GRCm39)	Y373C	probably damaging	Het
Snx1	T	C	9: 65,998,002 (GRCm39)	D410G	probably benign	Het
Son	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	AGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCGCAGGAGCCGAACCCCCAGCCG	16: 91,457,222 (GRCm39)		probably benign	Het
Stam2	G	T	2: 52,606,582 (GRCm39)	A101D	probably damaging	Het
Surf4	A	G	2: 26,814,364 (GRCm39)	F179S	probably benign	Het
Taf8	C	T	17: 47,801,101 (GRCm39)	R294Q	unknown	Het
Tnr	A	G	1: 159,719,608 (GRCm39)	T962A	probably benign	Het
Tpx2	T	A	2: 152,711,618 (GRCm39)	I51K	possibly damaging	Het
Traf7	CA	CAA	17: 24,746,737 (GRCm39)		probably benign	Het
Usp34	T	A	11: 23,394,369 (GRCm39)	Y2305N		Het
Vil1	C	A	1: 74,469,833 (GRCm39)	Q740K	probably benign	Het
Vmn1r236	T	C	17: 21,507,286 (GRCm39)	F135L	possibly damaging	Het
Vmn1r57	A	C	7: 5,224,230 (GRCm39)	I252L	probably benign	Het
Vmn2r77	T	C	7: 86,460,741 (GRCm39)	L689P	probably benign	Het
Wdr1	A	G	5: 38,685,216 (GRCm39)	L585P	probably damaging	Het
Wdr6	T	C	9: 108,450,358 (GRCm39)	I1057V	probably benign	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
R5531:Jade1	UTSW	3	41,567,946 (GRCm39)	missense	probably benign	0.27
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
X0026:Jade1	UTSW	3	41,567,848 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- ATTGAAAGCAGATTCTTGAAGCAGG -3'
(R):5'- AGCTTTCTGAGACCTCCAGC -3'

Sequencing Primer
(F):5'- GCAGATTCTTGAAGCAGGTCATATC -3'
(R):5'- AAAGACCTGGCTGCTTATGC -3'

Posted On

2022-10-06