Mutagenetix > Incidental Mutation

Incidental Mutation 'R8015:Jmjd8'

617150

Institutional Source

Beutler Lab

Gene Symbol

Jmjd8

Ensembl Gene

ENSMUSG00000025736

Gene Name

jumonji domain containing 8

Synonyms

2610003J06Rik

MMRRC Submission

067455-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8015 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

26048017-26050817 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 26048302 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 108 (F108I)

Ref Sequence

ENSEMBL: ENSMUSP00000122744 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595]

AlphaFold

Q3TA59

Predicted Effect

probably damaging
Transcript: ENSMUST00000026832
AA Change: F63I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736
AA Change: F63I

Domain	Start	End	E-Value	Type
signal peptide	1	26	N/A	INTRINSIC
JmjC	140	271	5.27e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000026833

SMART Domains

Protein: ENSMUSP00000026833
Gene: ENSMUSG00000025737

Domain	Start	End	E-Value	Type
Blast:WD40	19	53	6e-8	BLAST
WD40	68	103	2.13e1	SMART
WD40	109	149	5.77e-5	SMART
WD40	152	192	4.48e-2	SMART
WD40	196	236	1.48e-11	SMART
WD40	244	282	1.66e0	SMART
WD40	286	327	2.48e0	SMART
low complexity region	605	623	N/A	INTRINSIC
Blast:RING	743	780	2e-7	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000044911

SMART Domains

Protein: ENSMUSP00000040431
Gene: ENSMUSG00000039615

Domain	Start	End	E-Value	Type
low complexity region	9	19	N/A	INTRINSIC
TPR	27	60	2.43e1	SMART
TPR	61	94	1.48e-7	SMART
TPR	95	128	4.52e-3	SMART
low complexity region	168	180	N/A	INTRINSIC
Ubox	231	294	1.27e-28	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000123582
AA Change: F45I

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736
AA Change: F45I

Domain	Start	End	E-Value	Type
low complexity region	158	172	N/A	INTRINSIC
low complexity region	194	208	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000133595
AA Change: F108I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736
AA Change: F108I

Domain	Start	End	E-Value	Type
transmembrane domain	55	74	N/A	INTRINSIC
JmjC	185	316	5.27e-2	SMART

Predicted Effect

SMART Domains

Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736
AA Change: F61I

Domain	Start	End	E-Value	Type
signal peptide	1	25	N/A	INTRINSIC

Meta Mutation Damage Score

0.1726

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.2%

Validation Efficiency

100% (51/51)

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele exhibit reduced capillaries in muscle tissue and reduced glycolysis in isolated cells. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Alad	A	G	4: 62,430,159 (GRCm39)	V121A	probably damaging	Het
Anapc2	T	A	2: 25,174,688 (GRCm39)	Y684N	probably benign	Het
Atp10a	G	T	7: 58,453,245 (GRCm39)	R808L	probably benign	Het
Best2	A	G	8: 85,735,983 (GRCm39)	V317A	probably damaging	Het
Bmal2	T	C	6: 146,722,088 (GRCm39)	S220P	probably damaging	Het
Cacnb4	A	G	2: 52,354,655 (GRCm39)	L241P	probably damaging	Het
Col6a5	T	C	9: 105,758,940 (GRCm39)	T2089A	possibly damaging	Het
Cttnbp2	G	C	6: 18,426,092 (GRCm39)	A762G	possibly damaging	Het
Defb13	G	T	8: 22,436,828 (GRCm39)	V8F	possibly damaging	Het
Dpp6	C	T	5: 27,022,808 (GRCm39)		probably benign	Het
Fat4	A	G	3: 39,036,065 (GRCm39)	D3239G	possibly damaging	Het
Hmcn1	T	G	1: 150,474,062 (GRCm39)	R4793S	possibly damaging	Het
Hspa1a	T	A	17: 35,189,625 (GRCm39)	Q426L	probably damaging	Het
Hycc2	A	G	1: 58,574,641 (GRCm39)	V300A	possibly damaging	Het
Il20rb	T	A	9: 100,356,947 (GRCm39)	Y61F	probably damaging	Het
Iqcn	C	T	8: 71,169,441 (GRCm39)	S1177L	probably benign	Het
Itgb1	T	A	8: 129,448,882 (GRCm39)	V496D	possibly damaging	Het
Jakmip1	T	C	5: 37,317,109 (GRCm39)	S102P	unknown	Het
Krtap15-1	A	G	16: 88,626,097 (GRCm39)	T55A	possibly damaging	Het
Lce3d	A	T	3: 92,865,810 (GRCm39)		probably benign	Het
Lnpep	C	A	17: 17,766,761 (GRCm39)	V702F	probably damaging	Het
Lox	G	A	18: 52,661,420 (GRCm39)	A218V	probably benign	Het
Mcrs1	T	A	15: 99,146,735 (GRCm39)	K99*	probably null	Het
Mfsd8	G	A	3: 40,801,270 (GRCm39)		probably benign	Het
Msto1	G	T	3: 88,818,863 (GRCm39)	P264Q	probably damaging	Het
Nrp2	C	T	1: 62,784,567 (GRCm39)	R239C	probably damaging	Het
Or2ad1	T	C	13: 21,326,303 (GRCm39)	D308G	probably benign	Het
Or5g25	G	T	2: 85,478,136 (GRCm39)	H176Q	probably damaging	Het
Pate2	A	T	9: 35,581,814 (GRCm39)	H36L	probably damaging	Het
Pate9	A	G	9: 36,446,250 (GRCm39)	V54A	probably benign	Het
Phf20l1	T	G	15: 66,511,797 (GRCm39)	N925K	possibly damaging	Het
Pnliprp2	G	T	19: 58,754,714 (GRCm39)	V253F	probably damaging	Het
Polr2b	A	G	5: 77,484,353 (GRCm39)	D745G	probably damaging	Het
Ptdss1	T	A	13: 67,111,407 (GRCm39)	W158R	possibly damaging	Het
Rcn3	T	A	7: 44,734,331 (GRCm39)	I226F	probably damaging	Het
Rhbdl1	C	G	17: 26,054,825 (GRCm39)	V157L	probably damaging	Het
Slc30a2	A	G	4: 134,074,761 (GRCm39)	T173A	probably benign	Het
Spata16	A	G	3: 26,721,808 (GRCm39)	T110A	probably benign	Het
Specc1l	A	G	10: 75,076,902 (GRCm39)	K53E	probably benign	Het
Speg	G	T	1: 75,392,065 (GRCm39)		probably benign	Het
Spta1	T	A	1: 174,067,737 (GRCm39)	C2055S	probably damaging	Het
Tex14	G	A	11: 87,400,426 (GRCm39)	R406Q	probably benign	Het
Tmem150b	C	T	7: 4,719,327 (GRCm39)	G198S	probably null	Het
Tnfrsf14	T	G	4: 155,011,118 (GRCm39)	Q81P	probably damaging	Het
Txndc17	A	G	11: 72,098,568 (GRCm39)	K40R	probably benign	Het
Ube3a	T	A	7: 58,934,504 (GRCm39)	V560E	probably damaging	Het
Vmn1r14	A	G	6: 57,211,015 (GRCm39)	M198V	probably damaging	Het
Vmn2r23	G	A	6: 123,681,500 (GRCm39)	S136N	probably benign	Het
Vmn2r31	C	T	7: 7,387,199 (GRCm39)	V791I	probably damaging	Het
Wdfy4	T	C	14: 32,829,704 (GRCm39)	Y984C		Het
Zfp386	T	G	12: 116,023,027 (GRCm39)	D248E	probably damaging	Het

Other mutations in Jmjd8

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01087:Jmjd8	APN	17	26,048,145 (GRCm39)	splice site	probably benign
IGL01813:Jmjd8	APN	17	26,048,212 (GRCm39)	critical splice acceptor site	probably null
IGL02858:Jmjd8	APN	17	26,049,134 (GRCm39)	missense	probably damaging	1.00
IGL03326:Jmjd8	APN	17	26,048,139 (GRCm39)	critical splice donor site	probably null
R0045:Jmjd8	UTSW	17	26,048,255 (GRCm39)	missense	probably damaging	1.00
R1491:Jmjd8	UTSW	17	26,048,266 (GRCm39)	missense	possibly damaging	0.66
R4276:Jmjd8	UTSW	17	26,048,787 (GRCm39)	unclassified	probably benign
R4277:Jmjd8	UTSW	17	26,048,787 (GRCm39)	unclassified	probably benign
R4279:Jmjd8	UTSW	17	26,048,787 (GRCm39)	unclassified	probably benign
R4534:Jmjd8	UTSW	17	26,047,984 (GRCm39)	splice site	probably null
R6490:Jmjd8	UTSW	17	26,048,086 (GRCm39)	missense	probably benign	0.08
R6904:Jmjd8	UTSW	17	26,048,026 (GRCm39)	missense	possibly damaging	0.90
R7305:Jmjd8	UTSW	17	26,049,301 (GRCm39)	missense	probably benign	0.13
R7935:Jmjd8	UTSW	17	26,048,071 (GRCm39)	missense	probably benign	0.36
R9369:Jmjd8	UTSW	17	26,048,686 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- ATGGTGACTGTGATTCTGCC -3'
(R):5'- TGTCCGTGAGTCCTTGCAAG -3'

Sequencing Primer
(F):5'- GTGATTCTGCCTGCCTCTGG -3'
(R):5'- TCCGTGAGTCCTTGCAAGATGAC -3'

Posted On

2020-01-23