Mutagenetix > Incidental Mutation

Incidental Mutation 'R7262:Jmjd7'

564675

Institutional Source

Beutler Lab

Gene Symbol

Jmjd7

Ensembl Gene

ENSMUSG00000098789

Gene Name

jumonji domain containing 7

Synonyms

MMRRC Submission

045353-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.118) question?

Stock #

R7262 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

119857964-119863075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 119862467 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 283 (H283R)

Ref Sequence

ENSEMBL: ENSMUSP00000041220 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000066058] [ENSMUST00000126150] [ENSMUST00000129679] [ENSMUST00000129685] [ENSMUST00000135365] [ENSMUST00000156805] [ENSMUST00000162393]

AlphaFold

P0C872

Predicted Effect

probably benign
Transcript: ENSMUST00000044675
AA Change: H283R

PolyPhen 2 Score 0.034 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
AA Change: H283R

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	307	4.31e-39	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000066058

SMART Domains

Protein: ENSMUSP00000068516
Gene: ENSMUSG00000033902

Domain	Start	End	E-Value	Type
WD40	80	121	8.75e-5	SMART
WD40	124	165	3.64e-2	SMART
WD40	168	205	4.62e-1	SMART
low complexity region	220	234	N/A	INTRINSIC
WD40	264	301	2.65e1	SMART
WD40	332	367	1.99e0	SMART
WD40	374	422	1.29e-2	SMART
WD40	463	502	3.9e-2	SMART
WD40	505	547	2.77e-1	SMART
WD40	551	592	2.67e-1	SMART
WD40	599	639	2.21e1	SMART
WD40	642	684	5.75e-1	SMART
WD40	687	726	6.04e-8	SMART
low complexity region	736	747	N/A	INTRINSIC
low complexity region	779	795	N/A	INTRINSIC
low complexity region	1028	1054	N/A	INTRINSIC
coiled coil region	1400	1427	N/A	INTRINSIC
low complexity region	1460	1477	N/A	INTRINSIC

Predicted Effect

SMART Domains

Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852
AA Change: H46R

Domain	Start	End	E-Value	Type
Pfam:Cupin_8	2	62	2.8e-27	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000126150

SMART Domains

Protein: ENSMUSP00000118458
Gene: ENSMUSG00000098488

Domain	Start	End	E-Value	Type
C2	19	119	1.79e-17	SMART
PLAc	233	789	1.99e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000129679

Predicted Effect

probably benign
Transcript: ENSMUST00000129685

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	1012	1.99e-10	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000135365

Predicted Effect

probably benign
Transcript: ENSMUST00000156805

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	308	1.65e-4	SMART
C2	242	342	1.79e-17	SMART
PLAc	456	892	8.56e-8	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000162393

SMART Domains

Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852

Domain	Start	End	E-Value	Type
low complexity region	2	13	N/A	INTRINSIC
JmjC	128	242	4.42e-3	SMART

Meta Mutation Damage Score

0.0898

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 99.1%

Validation Efficiency

100% (53/53)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a highly conserved protein with a JmjC domain, which are part of the cupin metalloenzyme superfamily. JmjC proteins may function as 2-oxoglutarate-Fe(II)-dependent dioxygenases. Most tissues also express read-through transcripts from this gene into the downstream phospholipase A2, group IVB (cytosolic) gene, some of which may encode fusion proteins combining the N-terminus of this protein with the phospholipase A2, group IVB protein. [provided by RefSeq, Jul 2008]

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acap2	A	G	16: 30,946,137 (GRCm39)		probably null	Het
Adh5	C	A	3: 138,151,133 (GRCm39)	A32D	possibly damaging	Het
Ap1m2	A	G	9: 21,213,762 (GRCm39)	I295T	possibly damaging	Het
B230104I21Rik	T	C	4: 154,434,091 (GRCm39)	S92P	unknown	Het
Carnmt1	A	T	19: 18,655,228 (GRCm39)	N127I	probably benign	Het
Ccdc42	A	G	11: 68,485,399 (GRCm39)	T106A	probably damaging	Het
Cdcp1	T	C	9: 123,002,680 (GRCm39)	E797G	probably damaging	Het
Cep112	T	A	11: 108,555,467 (GRCm39)	V821D	probably damaging	Het
Cpvl	A	T	6: 53,909,500 (GRCm39)	V212D	probably damaging	Het
Cttnbp2nl	A	T	3: 104,940,062 (GRCm39)	N2K	probably damaging	Het
Cyp2c69	T	C	19: 39,875,176 (GRCm39)		probably benign	Het
Cyp2u1	T	C	3: 131,091,605 (GRCm39)	D305G	probably damaging	Het
Dab2ip	A	G	2: 35,512,298 (GRCm39)		probably null	Het
Ddx55	T	C	5: 124,704,919 (GRCm39)	L396P	probably benign	Het
Dhx34	G	A	7: 15,937,623 (GRCm39)	A786V	probably benign	Het
Efcab3	G	A	11: 104,745,432 (GRCm39)		probably null	Het
Ehbp1l1	A	T	19: 5,768,474 (GRCm39)	L943*	probably null	Het
Epm2aip1	A	G	9: 111,101,728 (GRCm39)	T234A	probably benign	Het
Flot2	T	C	11: 77,948,175 (GRCm39)	M145T	probably damaging	Het
Fn3k	T	C	11: 121,339,741 (GRCm39)	F168L	probably damaging	Het
Gmfb	A	T	14: 47,052,386 (GRCm39)	C87S	probably damaging	Het
H2-M3	T	C	17: 37,582,084 (GRCm39)	F180S	probably damaging	Het
Havcr2	C	T	11: 46,360,388 (GRCm39)	T205I	probably benign	Het
Hdac3	C	T	18: 38,078,616 (GRCm39)	C123Y	probably damaging	Het
Itpk1	T	C	12: 102,641,712 (GRCm39)	E37G	possibly damaging	Het
Kif26b	T	C	1: 178,745,219 (GRCm39)	S1772P	possibly damaging	Het
Klhl6	T	C	16: 19,801,546 (GRCm39)	T70A	probably damaging	Het
Kntc1	C	A	5: 123,925,036 (GRCm39)	D1116E	probably benign	Het
Lama4	T	A	10: 38,970,930 (GRCm39)	H1498Q	probably damaging	Het
Lamp1	A	T	8: 13,217,296 (GRCm39)	T102S	probably benign	Het
Lrp8	A	G	4: 107,704,661 (GRCm39)	N168D	probably benign	Het
Ltbp1	G	T	17: 75,671,363 (GRCm39)	D1515Y	probably damaging	Het
Obscn	A	G	11: 59,006,715 (GRCm39)	V1149A	probably damaging	Het
Or10q1	A	T	19: 13,726,535 (GRCm39)	T22S	probably benign	Het
Or4f6	A	G	2: 111,838,902 (GRCm39)	S210P	probably damaging	Het
Or52ad1	T	C	7: 102,995,764 (GRCm39)	R124G	probably damaging	Het
Pak4	C	A	7: 28,264,625 (GRCm39)	M92I	possibly damaging	Het
Pam	T	C	1: 97,782,448 (GRCm39)	K157R		Het
Pcdh9	A	T	14: 93,253,141 (GRCm39)	V1174E	probably benign	Het
Phf8-ps	G	A	17: 33,285,971 (GRCm39)	T277I	probably damaging	Het
Ppp1r3a	T	C	6: 14,719,069 (GRCm39)	D615G	probably benign	Het
Senp1	A	T	15: 97,964,379 (GRCm39)	D278E	probably benign	Het
Serpinc1	A	G	1: 160,817,229 (GRCm39)	N108D	probably damaging	Het
Srl	C	A	16: 4,315,415 (GRCm39)	A76S	probably damaging	Het
Tbc1d16	C	A	11: 119,045,921 (GRCm39)	V509L	probably benign	Het
Tbc1d24	A	G	17: 24,426,820 (GRCm39)	F357S	probably damaging	Het
Tcaf3	A	G	6: 42,570,735 (GRCm39)	L339P	probably damaging	Het
Tmem232	A	T	17: 65,807,112 (GRCm39)	I27N	probably benign	Het
Ubr2	T	C	17: 47,311,665 (GRCm39)	D62G	probably damaging	Het
Vcan	T	G	13: 89,853,280 (GRCm39)	D560A	possibly damaging	Het
Vmn2r80	T	A	10: 79,005,579 (GRCm39)	N405K	probably damaging	Het
Wdhd1	A	T	14: 47,489,430 (GRCm39)	I701K	probably benign	Het

Other mutations in Jmjd7

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R0522:Jmjd7	UTSW	2	119,860,822 (GRCm39)	missense	probably damaging	1.00
R1802:Jmjd7	UTSW	2	119,860,589 (GRCm39)	missense	probably damaging	1.00
R1803:Jmjd7	UTSW	2	119,860,589 (GRCm39)	missense	probably damaging	1.00
R2143:Jmjd7	UTSW	2	119,860,601 (GRCm39)	splice site	probably null
R4586:Jmjd7	UTSW	2	119,862,649 (GRCm39)	missense	probably benign	0.20
R6520:Jmjd7	UTSW	2	119,861,800 (GRCm39)	missense	probably damaging	0.97
R6805:Jmjd7	UTSW	2	119,861,804 (GRCm39)	nonsense	probably null
R7860:Jmjd7	UTSW	2	119,860,996 (GRCm39)	missense	possibly damaging	0.58
R8469:Jmjd7	UTSW	2	119,860,643 (GRCm39)	missense	possibly damaging	0.80
R9276:Jmjd7	UTSW	2	119,860,895 (GRCm39)	missense	possibly damaging	0.82

Predicted Primers

PCR Primer
(F):5'- GTGATTCTTCAAGCCGAGAGG -3'
(R):5'- AACTGTACTTGAGGTCATACTCC -3'

Sequencing Primer
(F):5'- AGCTGGAGATCTTGGGGAC -3'
(R):5'- TGAGGTCATACTCCATGTCATACCAG -3'

Posted On

2019-06-26