Mutagenetix > Incidental Mutation

Incidental Mutation 'R9356:Jmjd4'

708429

Institutional Source

Beutler Lab

Gene Symbol

Jmjd4

Ensembl Gene

ENSMUSG00000036819

Gene Name

jumonji domain containing 4

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9356 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

59340871-59349393 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 59345761 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 280 (D280E)

Ref Sequence

ENSEMBL: ENSMUSP00000104407 (fasta)

Gene Model

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

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 benign
Transcript: ENSMUST00000045279
AA Change: D268E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000043473
Gene: ENSMUSG00000036819
AA Change: D268E

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 benign
Transcript: ENSMUST00000108777
AA Change: D280E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000104407
Gene: ENSMUSG00000036819
AA Change: D280E

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

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 benign
Transcript: ENSMUST00000147163

SMART Domains

Protein: ENSMUSP00000123531
Gene: ENSMUSG00000036819

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: ENSMUST00000156146

SMART Domains

Protein: ENSMUSP00000121880
Gene: ENSMUSG00000009894

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

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca13	G	A	11: 9,206,305 (GRCm39)	V202M	probably benign	Het
Ago3	A	T	4: 126,264,144 (GRCm39)	I354N	probably damaging	Het
Ankrd50	A	T	3: 38,510,236 (GRCm39)	D710E	probably damaging	Het
Apba2	A	T	7: 64,345,421 (GRCm39)	N204Y	probably damaging	Het
Arrdc4	A	G	7: 68,394,627 (GRCm39)	V139A	possibly damaging	Het
Baz1b	A	G	5: 135,239,653 (GRCm39)	E251G	probably benign	Het
Calcr	T	C	6: 3,687,408 (GRCm39)	D530G	probably benign	Het
Chrna7	A	T	7: 62,757,437 (GRCm39)	V154E	probably damaging	Het
Cldn15	T	C	5: 136,996,968 (GRCm39)	V3A	probably benign	Het
Csmd1	A	T	8: 16,252,069 (GRCm39)	L929Q	probably damaging	Het
Ctss	A	C	3: 95,454,120 (GRCm39)	H224P	possibly damaging	Het
Cyp4a12a	C	A	4: 115,185,915 (GRCm39)	H408N	probably benign	Het
Gm10549	C	T	18: 33,597,375 (GRCm39)	P54S	unknown	Het
Gpr162	T	C	6: 124,838,297 (GRCm39)	M118V	possibly damaging	Het
Ifnar1	C	T	16: 91,292,367 (GRCm39)	P207L	probably benign	Het
Igfn1	A	T	1: 135,899,825 (GRCm39)	C495*	probably null	Het
Ints9	T	C	14: 65,269,770 (GRCm39)	S487P	probably benign	Het
Krtap1-4	G	A	11: 99,474,169 (GRCm39)	Q96*	probably null	Het
Ksr2	T	A	5: 117,827,706 (GRCm39)	I495N	probably benign	Het
Lama2	T	A	10: 27,088,186 (GRCm39)	N864Y	probably damaging	Het
Lce1f	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	TCCACAGCAGCCACTGCTGCCACCACTGCTGCCACAGCAGCCACTGCTGCCACCACTGCT	3: 92,626,272 (GRCm39)		probably benign	Het
Lig4	A	G	8: 10,022,538 (GRCm39)	V414A	possibly damaging	Het
Lman2l	A	G	1: 36,467,415 (GRCm39)	F211S	probably damaging	Het
Lmtk3	A	G	7: 45,443,312 (GRCm39)	E665G	probably damaging	Het
Mdm4	G	A	1: 132,938,837 (GRCm39)	L86F	probably damaging	Het
Mfsd10	C	A	5: 34,794,048 (GRCm39)	E22*	probably null	Het
Mindy1	C	T	3: 95,202,590 (GRCm39)	L394F	probably benign	Het
Mroh4	T	C	15: 74,482,760 (GRCm39)	M735V	probably benign	Het
Myo7a	T	A	7: 97,725,873 (GRCm39)	M1060L	probably benign	Het
Myo7b	C	A	18: 32,110,096 (GRCm39)	S1122I	probably damaging	Het
Nudt17	T	A	3: 96,613,688 (GRCm39)	R313S	probably damaging	Het
Or52n5	A	G	7: 104,588,373 (GRCm39)	I213M	probably benign	Het
Or5w15	T	A	2: 87,568,089 (GRCm39)	Q193L	probably benign	Het
Or6c65	T	G	10: 129,604,035 (GRCm39)	I223M	possibly damaging	Het
Or8h7	T	A	2: 86,720,605 (GRCm39)	M305L	probably benign	Het
Otogl	T	C	10: 107,617,890 (GRCm39)	Y1741C	probably damaging	Het
Pja2	A	G	17: 64,618,204 (GRCm39)	V65A	probably damaging	Het
Primpol	A	G	8: 47,043,318 (GRCm39)	V325A	probably benign	Het
Prss36	T	C	7: 127,545,697 (GRCm39)		probably benign	Het
Ptpn20	T	G	14: 33,352,865 (GRCm39)	Y201*	probably null	Het
Rundc3a	T	C	11: 102,292,890 (GRCm39)	S428P	probably damaging	Het
Rxra	T	A	2: 27,649,675 (GRCm39)	L460Q	probably damaging	Het
Sdsl	C	T	5: 120,597,948 (GRCm39)	V182M	probably damaging	Het
Slc14a2	A	C	18: 78,227,823 (GRCm39)	I226S	probably null	Het
Spam1	T	A	6: 24,800,565 (GRCm39)	C435S	probably damaging	Het
Spata31h1	T	C	10: 82,125,157 (GRCm39)	K2618E	possibly damaging	Het
Stbd1	A	G	5: 92,753,277 (GRCm39)	T256A	possibly damaging	Het
Ttc39c	T	A	18: 12,853,102 (GRCm39)		probably null	Het
Uba3	T	C	6: 97,161,811 (GRCm39)	D440G	probably benign	Het
Ythdf1	A	C	2: 180,553,998 (GRCm39)	S72R	probably benign	Het
Zfp770	T	C	2: 114,026,917 (GRCm39)	E384G	possibly damaging	Het
Zfp979	G	T	4: 147,698,358 (GRCm39)	T117K	probably damaging	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
IGL00434:Jmjd4	APN	11	59,341,321 (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
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

Predicted Primers

PCR Primer
(F):5'- AGTATCTGAGAGTCTGTTTTCTACC -3'
(R):5'- GACTCAATATGATCTGGTTGCTTCCC -3'

Sequencing Primer
(F):5'- TCTGCCTAGGGAATGGTACTACAC -3'
(R):5'- GTTGCTTCCCACCTGGCAG -3'

Posted On

2022-04-18