Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00434:Jmjd4'

6055

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jmjd4

Ensembl Gene

ENSMUSG00000036819

Gene Name

jumonji domain containing 4

Synonyms

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.135) question?

Stock #

IGL00434

Quality Score

Status

Chromosome

Chromosomal Location

59340871-59349393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 59341321 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 84 (Y84C)

Ref Sequence

ENSEMBL: ENSMUSP00000123531 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000010038] [ENSMUST00000045279] [ENSMUST00000108777] [ENSMUST00000120940] [ENSMUST00000125846] [ENSMUST00000132969] [ENSMUST00000147163] [ENSMUST00000145550] [ENSMUST00000150297] [ENSMUST00000156146] [ENSMUST00000136436]

AlphaFold

Q8BFT6

Predicted Effect

probably benign
Transcript: ENSMUST00000010038

SMART Domains

Protein: ENSMUSP00000010038
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC
SCOP:d1fpza_	181	234	3e-3	SMART
low complexity region	335	349	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000045279
AA Change: Y84C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: Y84C

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
Blast:JmjC	34	89	2e-21	BLAST
Blast:JmjC	103	144	1e-18	BLAST
JmjC	147	294	1.56e-13	SMART

Predicted Effect

probably damaging
Transcript: ENSMUST00000108777
AA Change: Y84C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: Y84C

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
Blast:JmjC	34	89	3e-21	BLAST
JmjC	147	306	1.84e-24	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000120940

SMART Domains

Protein: ENSMUSP00000113555
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC
SCOP:d1fpza_	181	234	3e-3	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000125846

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000126158

Predicted Effect

probably benign
Transcript: ENSMUST00000132969

SMART Domains

Protein: ENSMUSP00000116170
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	147	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000147163
AA Change: Y84C

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819
AA Change: Y84C

Domain	Start	End	E-Value	Type
low complexity region	19	33	N/A	INTRINSIC
Blast:JmjC	68	152	8e-38	BLAST
Blast:JmjC	152	190	2e-15	BLAST

Predicted Effect

probably benign
Transcript: ENSMUST00000145550

Predicted Effect

probably benign
Transcript: ENSMUST00000150297

Predicted Effect

probably benign
Transcript: ENSMUST00000156146

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000136436

SMART Domains

Protein: ENSMUSP00000115762
Gene: ENSMUSG00000009894

Domain	Start	End	E-Value	Type
coiled coil region	125	173	N/A	INTRINSIC

Coding Region Coverage

Validation Efficiency

MGI Phenotype

PHENOTYPE: Mice homozygous for a knock-out allele are healthy, fertile and physiologically normal. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 50 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arid2	T	C	15: 96,269,181 (GRCm39)	V1098A	probably damaging	Het
Bltp1	T	C	3: 37,041,448 (GRCm39)	F2609L	probably damaging	Het
Ccdc126	C	T	6: 49,311,239 (GRCm39)		probably benign	Het
Cds2	T	C	2: 132,135,271 (GRCm39)	L54P	probably damaging	Het
Cdsn	A	T	17: 35,865,740 (GRCm39)	S90C	unknown	Het
Clcn6	G	T	4: 148,098,195 (GRCm39)	D581E	probably damaging	Het
Clec4f	T	A	6: 83,630,198 (GRCm39)	H120L	possibly damaging	Het
Col12a1	T	C	9: 79,560,614 (GRCm39)	T1838A	probably benign	Het
Col22a1	T	C	15: 71,878,524 (GRCm39)	D211G	possibly damaging	Het
Cpne8	T	C	15: 90,381,261 (GRCm39)		probably benign	Het
Dgkk	T	A	X: 6,772,697 (GRCm39)	M462K	probably benign	Het
Dhx29	T	A	13: 113,091,759 (GRCm39)	H834Q	probably benign	Het
Esyt1	A	G	10: 128,353,504 (GRCm39)	Y578H	possibly damaging	Het
Fnip2	C	A	3: 79,419,796 (GRCm39)		probably benign	Het
Fut1	T	G	7: 45,268,855 (GRCm39)	C270G	probably damaging	Het
Ganab	T	A	19: 8,884,707 (GRCm39)	V170D	probably damaging	Het
Gys1	T	A	7: 45,094,256 (GRCm39)	M364K	possibly damaging	Het
Ighv1-85	A	C	12: 115,963,654 (GRCm39)	C115W	probably damaging	Het
Igkv4-74	T	G	6: 69,162,044 (GRCm39)	T42P	probably damaging	Het
Kif11	A	C	19: 37,399,857 (GRCm39)	E781D	possibly damaging	Het
Kif14	G	A	1: 136,396,756 (GRCm39)	S354N	probably benign	Het
Klf1	C	T	8: 85,628,628 (GRCm39)	P9S	possibly damaging	Het
Lrrn3	T	C	12: 41,502,191 (GRCm39)		probably benign	Het
Ltbp4	C	A	7: 27,028,230 (GRCm39)	R309L	probably damaging	Het
Marchf10	T	C	11: 105,293,014 (GRCm39)	E131G	possibly damaging	Het
Men1	G	A	19: 6,387,237 (GRCm39)		probably null	Het
Mgme1	T	A	2: 144,121,056 (GRCm39)		probably benign	Het
Nkiras2	G	A	11: 100,515,808 (GRCm39)	G45D	probably damaging	Het
Orc2	A	T	1: 58,532,875 (GRCm39)	D16E	possibly damaging	Het
Pcyox1l	T	C	18: 61,830,613 (GRCm39)	T420A	probably benign	Het
Pira13	C	A	7: 3,826,088 (GRCm39)	G302C	probably damaging	Het
Pm20d1	A	G	1: 131,741,738 (GRCm39)		probably benign	Het
Ppp1r3c	T	C	19: 36,711,503 (GRCm39)	D89G	probably damaging	Het
Ppp2ca	G	A	11: 52,012,776 (GRCm39)	R302H	probably benign	Het
Riok3	T	C	18: 12,281,904 (GRCm39)	V291A	probably damaging	Het
Rragd	A	G	4: 33,007,219 (GRCm39)		probably benign	Het
Scai	C	A	2: 38,998,406 (GRCm39)	L174F	probably damaging	Het
Slc25a44	T	C	3: 88,323,369 (GRCm39)	I227V	probably benign	Het
Slc35f1	T	C	10: 52,938,548 (GRCm39)	L160P	probably damaging	Het
Slc38a1	A	G	15: 96,483,504 (GRCm39)	Y275H	possibly damaging	Het
Slco6b1	A	G	1: 96,916,375 (GRCm39)		noncoding transcript	Het
Spag8	G	T	4: 43,652,890 (GRCm39)	C190*	probably null	Het
Tbr1	T	C	2: 61,635,625 (GRCm39)	F192L	probably benign	Het
Tti1	C	T	2: 157,850,886 (GRCm39)	E118K	probably damaging	Het
Tti1	T	A	2: 157,850,885 (GRCm39)	E118V	probably damaging	Het
Vcan	G	T	13: 89,852,821 (GRCm39)	P713Q	probably damaging	Het
Vcf2	A	T	X: 149,181,395 (GRCm39)	V132E	possibly damaging	Het
Wt1	G	T	2: 104,974,486 (GRCm39)		probably null	Het
Xylt1	T	A	7: 117,249,912 (GRCm39)	I694N	probably damaging	Het
Zfp516	T	A	18: 82,975,233 (GRCm39)	M477K	probably benign	Het

Other mutations in Jmjd4

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00334:Jmjd4	APN	11	59,346,140 (GRCm39)	missense	probably damaging	1.00
IGL00863:Jmjd4	APN	11	59,341,569 (GRCm39)	missense	probably benign
IGL02566:Jmjd4	APN	11	59,345,880 (GRCm39)	missense	probably damaging	0.99
R0048:Jmjd4	UTSW	11	59,344,778 (GRCm39)	missense	probably benign
R1678:Jmjd4	UTSW	11	59,344,438 (GRCm39)	missense	probably damaging	1.00
R2131:Jmjd4	UTSW	11	59,345,781 (GRCm39)	missense	probably damaging	1.00
R4823:Jmjd4	UTSW	11	59,346,406 (GRCm39)	missense	probably benign	0.00
R5621:Jmjd4	UTSW	11	59,341,219 (GRCm39)	missense	probably damaging	0.99
R6053:Jmjd4	UTSW	11	59,344,870 (GRCm39)	missense	probably damaging	1.00
R6664:Jmjd4	UTSW	11	59,341,245 (GRCm39)	missense	probably benign	0.22
R7816:Jmjd4	UTSW	11	59,341,162 (GRCm39)	missense	probably benign	0.31
R8080:Jmjd4	UTSW	11	59,341,179 (GRCm39)	missense	probably benign
R8957:Jmjd4	UTSW	11	59,340,884 (GRCm39)	unclassified	probably benign
R9356:Jmjd4	UTSW	11	59,345,761 (GRCm39)	missense	probably benign
R9732:Jmjd4	UTSW	11	59,341,339 (GRCm39)	critical splice donor site	probably null
X0018:Jmjd4	UTSW	11	59,345,880 (GRCm39)	missense	probably damaging	0.99
Z1177:Jmjd4	UTSW	11	59,341,100 (GRCm39)	missense	probably benign	0.01

Posted On

2012-04-20