Mutagenetix > Incidental Mutation

Incidental Mutation 'R4277:Jmjd8'

322751

Institutional Source

Beutler Lab

Gene Symbol

Jmjd8

Ensembl Gene

ENSMUSG00000025736

Gene Name

jumonji domain containing 8

Synonyms

2610003J06Rik

MMRRC Submission

041078-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R4277 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

26048017-26050817 bp(+) (GRCm39)

Type of Mutation

unclassified

DNA Base Change (assembly)

A to G at 26048787 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000139046 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026831] [ENSMUST00000026832] [ENSMUST00000026833] [ENSMUST00000044911] [ENSMUST00000123582] [ENSMUST00000133595] [ENSMUST00000183929]

AlphaFold

Q3TA59

Predicted Effect

probably benign
Transcript: ENSMUST00000026831

SMART Domains

Protein: ENSMUSP00000026831
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	5e-7	SMART
Blast:EFh	43	71	9e-11	BLAST
transmembrane domain	129	151	N/A	INTRINSIC
Pfam:Rhomboid	174	331	6.7e-36	PFAM
transmembrane domain	339	361	N/A	INTRINSIC

Predicted Effect

silent
Transcript: ENSMUST00000026832

SMART Domains

Protein: ENSMUSP00000026832
Gene: ENSMUSG00000025736

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

noncoding transcript
Transcript: ENSMUST00000123560

Predicted Effect

unknown
Transcript: ENSMUST00000123582
AA Change: T134A

SMART Domains

Protein: ENSMUSP00000119840
Gene: ENSMUSG00000025736
AA Change: T134A

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000123692

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143296

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000144589

Predicted Effect

silent
Transcript: ENSMUST00000133595

SMART Domains

Protein: ENSMUSP00000122744
Gene: ENSMUSG00000025736

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

Predicted Effect

silent
Transcript: ENSMUST00000152434

SMART Domains

Protein: ENSMUSP00000119378
Gene: ENSMUSG00000025736

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160275

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175335

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160349

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000160829

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000180868

Predicted Effect

probably benign
Transcript: ENSMUST00000176751

Predicted Effect

probably benign
Transcript: ENSMUST00000183929

SMART Domains

Protein: ENSMUSP00000139046
Gene: ENSMUSG00000025735

Domain	Start	End	E-Value	Type
SCOP:d2mysb_	13	74	9e-6	SMART
Blast:EFh	43	70	2e-9	BLAST
transmembrane domain	136	155	N/A	INTRINSIC
Pfam:Rhomboid	178	327	1e-27	PFAM
transmembrane domain	335	357	N/A	INTRINSIC

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.4%
20x: 95.6%

Validation Efficiency

100% (33/33)

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1b7	A	G	6: 34,397,955 (GRCm39)		probably benign	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Cdh20	T	A	1: 109,993,418 (GRCm39)	I291K	probably benign	Het
Cdhr3	T	G	12: 33,110,232 (GRCm39)	S351R	probably null	Het
Dnah10	T	C	5: 124,809,394 (GRCm39)	S221P	probably benign	Het
Dstyk	G	A	1: 132,383,151 (GRCm39)		probably null	Het
Ern1	T	C	11: 106,298,007 (GRCm39)	I705V	probably benign	Het
Folh1	A	G	7: 86,412,123 (GRCm39)		probably null	Het
Hemk1	A	G	9: 107,205,728 (GRCm39)	Y260H	possibly damaging	Het
Ldhc	G	A	7: 46,515,890 (GRCm39)	A62T	probably benign	Het
Ndufs1	C	T	1: 63,209,256 (GRCm39)	V36I	possibly damaging	Het
Nsun4	C	T	4: 115,891,479 (GRCm39)	G300D	probably damaging	Het
Nsun5	A	G	5: 135,398,914 (GRCm39)	Y26C	probably damaging	Het
Ntn4	T	C	10: 93,577,072 (GRCm39)	I580T	possibly damaging	Het
Or7d10	A	G	9: 19,831,685 (GRCm39)	Y60C	possibly damaging	Het
Rasal2	A	T	1: 156,984,696 (GRCm39)	I992N	possibly damaging	Het
Rasgrp4	T	A	7: 28,852,019 (GRCm39)		probably benign	Het
Rbp3	G	A	14: 33,680,607 (GRCm39)	V1070I	probably benign	Het
Sp140l1	C	T	1: 85,066,521 (GRCm39)		probably benign	Het
Spp2	T	C	1: 88,338,873 (GRCm39)	F79L	probably damaging	Het
Tmem260	C	T	14: 48,715,093 (GRCm39)	T249M	probably damaging	Het
Trpv3	A	G	11: 73,187,264 (GRCm39)	T699A	probably damaging	Het
Ttn	T	A	2: 76,585,168 (GRCm39)	I22042F	probably damaging	Het
Vegfa	A	G	17: 46,342,392 (GRCm39)	V142A	probably benign	Het
Vnn1	A	T	10: 23,774,410 (GRCm39)	D151V	possibly 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
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
R8015:Jmjd8	UTSW	17	26,048,302 (GRCm39)	missense	probably damaging	0.99
R9369:Jmjd8	UTSW	17	26,048,686 (GRCm39)	missense	unknown

Predicted Primers

PCR Primer
(F):5'- TGGCCAAGTGCTCAGTTACC -3'
(R):5'- CCACTCAGTGAAGTTGTTGTC -3'

Sequencing Primer
(F):5'- GGAAAACCTGCTAGCCTCGTTC -3'
(R):5'- TGATAGGCAGGAGTACTG -3'

Posted On

2015-06-20