Mutagenetix > Incidental Mutation

Incidental Mutation 'R1802:Jmjd7'

203193

Institutional Source

Beutler Lab

Gene Symbol

Jmjd7

Ensembl Gene

ENSMUSG00000098789

Gene Name

jumonji domain containing 7

Synonyms

MMRRC Submission

039832-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.115) question?

Stock #

R1802 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

119857964-119863075 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 119860589 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Phenylalanine at position 39 (L39F)

Ref Sequence

ENSEMBL: ENSMUSP00000117535 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000044675] [ENSMUST00000066058] [ENSMUST00000126150] [ENSMUST00000129679] [ENSMUST00000129685] [ENSMUST00000156805] [ENSMUST00000162393] [ENSMUST00000135365] [ENSMUST00000229024]

AlphaFold

P0C872

Predicted Effect

probably damaging
Transcript: ENSMUST00000044675
AA Change: L39F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000041220
Gene: ENSMUSG00000098789
AA Change: L39F

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

probably benign
Transcript: ENSMUST00000125805

SMART Domains

Protein: ENSMUSP00000122869
Gene: ENSMUSG00000033852

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 damaging
Transcript: ENSMUST00000129685
AA Change: L39F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115498
Gene: ENSMUSG00000033852
AA Change: L39F

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

noncoding transcript
Transcript: ENSMUST00000130176

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000139862

Predicted Effect

probably damaging
Transcript: ENSMUST00000156805
AA Change: L39F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000117535
Gene: ENSMUSG00000033852
AA Change: L39F

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 damaging
Transcript: ENSMUST00000162393
AA Change: L39F

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000125329
Gene: ENSMUSG00000033852
AA Change: L39F

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000136042

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141511

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134380

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000143794

Predicted Effect

probably benign
Transcript: ENSMUST00000135365

Predicted Effect

probably benign
Transcript: ENSMUST00000229024

Coding Region Coverage

1x: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.3%

Validation Efficiency

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: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcd2	G	T	15: 91,047,305 (GRCm39)	R583S	probably benign	Het
Ago2	A	T	15: 72,993,029 (GRCm39)	F492Y	probably damaging	Het
Ano4	T	A	10: 88,816,878 (GRCm39)	D610V	probably damaging	Het
Atp6v0d2	A	G	4: 19,922,366 (GRCm39)		probably null	Het
Atxn7	T	G	14: 14,089,419 (GRCm38)	S312A	probably benign	Het
Azgp1	A	G	5: 137,983,493 (GRCm39)	Y56C	probably damaging	Het
Bcan	A	G	3: 87,900,415 (GRCm39)	V606A	possibly damaging	Het
Btnl9	T	A	11: 49,066,617 (GRCm39)	I335F	probably benign	Het
Ccdc63	T	C	5: 122,267,940 (GRCm39)	R9G	probably damaging	Het
Cdyl	T	A	13: 36,056,619 (GRCm39)	L534*	probably null	Het
Celf2	T	C	2: 6,554,744 (GRCm39)	E445G	probably damaging	Het
Cfap97d1	T	A	11: 101,879,302 (GRCm39)	Y25N	possibly damaging	Het
Cimap3	T	A	3: 105,921,866 (GRCm39)	Q19L	possibly damaging	Het
Cnot8	T	C	11: 58,008,361 (GRCm39)	C276R	probably benign	Het
Dock4	A	G	12: 40,844,597 (GRCm39)	I1135V	possibly damaging	Het
Edc3	A	G	9: 57,634,598 (GRCm39)	D205G	probably damaging	Het
Emilin1	C	T	5: 31,075,082 (GRCm39)	P441L	possibly damaging	Het
Fancl	T	G	11: 26,409,709 (GRCm39)	S188R	probably benign	Het
Fbn2	T	A	18: 58,186,048 (GRCm39)	K1767*	probably null	Het
Glrb	A	T	3: 80,769,264 (GRCm39)	H154Q	probably damaging	Het
Gm19965	C	T	1: 116,748,633 (GRCm39)	R105*	probably null	Het
Grhpr	C	A	4: 44,988,950 (GRCm39)	Y202*	probably null	Het
Herc2	A	G	7: 55,834,080 (GRCm39)	E3095G	probably damaging	Het
Il22ra2	A	T	10: 19,502,447 (GRCm39)	N89Y	probably damaging	Het
Itgb6	T	C	2: 60,483,625 (GRCm39)	D261G	probably benign	Het
Kif1a	T	A	1: 92,993,871 (GRCm39)	I360F	probably damaging	Het
Kmt2d	T	C	15: 98,760,866 (GRCm39)	Q828R	unknown	Het
Marchf10	C	A	11: 105,280,741 (GRCm39)	A515S	probably benign	Het
Mios	T	A	6: 8,216,385 (GRCm39)	Y436*	probably null	Het
Mprip	C	T	11: 59,645,867 (GRCm39)	L684F	probably damaging	Het
Mybpc2	T	A	7: 44,161,894 (GRCm39)	N519Y	possibly damaging	Het
Naga	C	T	15: 82,221,669 (GRCm39)	R24Q	probably benign	Het
Nr2c1	G	A	10: 93,999,648 (GRCm39)	V103M	possibly damaging	Het
Oca2	A	G	7: 55,904,728 (GRCm39)	S65G	possibly damaging	Het
Or4k49	G	T	2: 111,495,099 (GRCm39)	S176I	probably damaging	Het
Or52ab7	A	G	7: 102,977,854 (GRCm39)	I54V	probably benign	Het
Phyhipl	A	T	10: 70,434,855 (GRCm39)	I28N	probably benign	Het
Pik3cb	C	A	9: 98,983,342 (GRCm39)	E89*	probably null	Het
Plekhm2	A	T	4: 141,361,658 (GRCm39)	S262T	probably benign	Het
Ppm1a	T	A	12: 72,840,481 (GRCm39)		probably null	Het
Relt	T	C	7: 100,499,401 (GRCm39)	I173V	probably damaging	Het
Rfx7	T	A	9: 72,526,919 (GRCm39)	S1370T	possibly damaging	Het
Rps7	G	A	12: 28,684,258 (GRCm39)	R81C	probably benign	Het
Saa3	T	C	7: 46,361,550 (GRCm39)	*123W	probably null	Het
Serpina3b	C	A	12: 104,104,896 (GRCm39)	H357Q	probably damaging	Het
Slc9c1	T	A	16: 45,378,644 (GRCm39)	N493K	probably benign	Het
Spata31	T	C	13: 65,070,197 (GRCm39)	Y782H	probably benign	Het
Tfap2a	T	C	13: 40,878,646 (GRCm39)	D166G	probably damaging	Het
Thada	A	T	17: 84,771,835 (GRCm39)	M9K	probably benign	Het
Tmem269	A	T	4: 119,068,070 (GRCm39)		probably null	Het
Tnxb	C	A	17: 34,922,863 (GRCm39)	P2482Q	probably damaging	Het
Vit	T	C	17: 78,912,940 (GRCm39)	V291A	possibly damaging	Het
Zfp930	G	T	8: 69,679,046 (GRCm39)	A18S	possibly damaging	Het
Zup1	A	T	10: 33,819,714 (GRCm39)	V200D	probably damaging	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
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
R7262:Jmjd7	UTSW	2	119,862,467 (GRCm39)	missense	probably benign	0.03
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'- ATCACCATTGGAGGCTGTC -3'
(R):5'- ACAGACACTTGGTTTGTAGTCTG -3'

Sequencing Primer
(F):5'- CACACATGAATCTGTGGGGTCATC -3'
(R):5'- AGTCTGCTGCTAATGGTCAC -3'

Posted On

2014-06-23