Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL02316:Jmjd6'

288044

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Jmjd6

Ensembl Gene

ENSMUSG00000056962

Gene Name

jumonji domain containing 6

Synonyms

5730436I23Rik, Ptdsr, PSR, PtdSerR

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL02316

Quality Score

Status

Chromosome

Chromosomal Location

116728258-116734275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 116733928 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 31 (Y31C)

Ref Sequence

ENSEMBL: ENSMUSP00000117922 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000047616] [ENSMUST00000106370] [ENSMUST00000140349] [ENSMUST00000142495] [ENSMUST00000140513]

AlphaFold

Q9ERI5

Predicted Effect

probably benign
Transcript: ENSMUST00000047616
AA Change: Y31C

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)

SMART Domains

Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
AA Change: Y31C

Domain	Start	End	E-Value	Type
JmjC	141	305	6.09e-48	SMART
low complexity region	340	369	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000106370

SMART Domains

Protein: ENSMUSP00000101978
Gene: ENSMUSG00000090266

Domain	Start	End	E-Value	Type
low complexity region	5	22	N/A	INTRINSIC
Pfam:Methyltransf_16	48	203	9.9e-20	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000124831

SMART Domains

Protein: ENSMUSP00000122867
Gene: ENSMUSG00000056962

Domain	Start	End	E-Value	Type
Pfam:JmjC	1	81	6.3e-20	PFAM
low complexity region	150	179	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000128784

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000130120

Predicted Effect

probably benign
Transcript: ENSMUST00000132593

Predicted Effect

probably benign
Transcript: ENSMUST00000140349

SMART Domains

Protein: ENSMUSP00000120850
Gene: ENSMUSG00000056962

Domain	Start	End	E-Value	Type
JmjC	93	257	6.09e-48	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000142495
AA Change: Y31C

PolyPhen 2 Score 0.498 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
AA Change: Y31C

Domain	Start	End	E-Value	Type
JmjC	141	270	4.17e-14	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176799

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141735

Predicted Effect

probably benign
Transcript: ENSMUST00000140869

Predicted Effect

probably benign
Transcript: ENSMUST00000140513

SMART Domains

Protein: ENSMUSP00000115086
Gene: ENSMUSG00000056962

Domain	Start	End	E-Value	Type
JmjC	98	262	6.09e-48	SMART

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: This gene encodes a nuclear protein with a JmjC domain. JmjC domain-containing proteins are predicted to function as protein hydroxylases or histone demethylases. This protein functions in differentiation of multiple tissues during development, and in anti-inflammatory cytokine signaling. It was first identified as a putative phosphatidylserine receptor involved in phagocytosis of apoptotic cells; however, subsequent studies have indicated that this protein does not directly function in the clearance of apoptotic cells, and questioned whether it is a true phosphatidylserine receptor. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene show perinatal lethality. Abnormalities are observed in the nervous. respiratory, cardiovascular, digestive, renal, hematopoietic, and immune systems. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Akr1c13	G	T	13: 4,253,458 (GRCm39)		probably benign	Het
Arhgap26	C	T	18: 38,775,599 (GRCm39)		noncoding transcript	Het
Atp5f1b	T	C	10: 127,920,178 (GRCm39)	V108A	probably benign	Het
B230307C23Rik	G	A	16: 97,809,850 (GRCm39)	V9M	probably damaging	Het
Ccdc85c	T	A	12: 108,177,829 (GRCm39)	H321L	probably damaging	Het
Diaph3	A	T	14: 87,223,551 (GRCm39)	M321K	possibly damaging	Het
Dicer1	G	A	12: 104,668,812 (GRCm39)	A1290V	probably damaging	Het
Dnah6	G	A	6: 73,145,894 (GRCm39)	T839M	probably benign	Het
Eif3a	G	A	19: 60,760,076 (GRCm39)		probably benign	Het
Eml1	T	C	12: 108,501,018 (GRCm39)		probably benign	Het
Exoc4	A	G	6: 33,887,519 (GRCm39)	Q769R	probably damaging	Het
Fam184a	T	G	10: 53,514,335 (GRCm39)	T426P	probably damaging	Het
Fsip2	C	A	2: 82,809,137 (GRCm39)	H1819N	probably benign	Het
Gm6686	T	A	17: 15,786,500 (GRCm39)		probably benign	Het
Hadha	T	C	5: 30,331,565 (GRCm39)	S464G	probably benign	Het
Ighv5-17	A	T	12: 113,822,775 (GRCm39)	C115*	probably null	Het
Klrb1-ps1	G	A	6: 129,093,532 (GRCm39)		noncoding transcript	Het
Mgat1	T	C	11: 49,152,185 (GRCm39)	Y223H	probably damaging	Het
Muc4	T	C	16: 32,569,668 (GRCm39)	S243P	possibly damaging	Het
Numa1	T	C	7: 101,650,577 (GRCm39)	L69P	probably damaging	Het
Or11h6	T	C	14: 50,879,744 (GRCm39)	I2T	probably benign	Het
Or1j21	A	T	2: 36,683,632 (GRCm39)	H128L	probably damaging	Het
Or1j4	C	A	2: 36,740,294 (GRCm39)	P79T	probably damaging	Het
Or4p23	A	G	2: 88,577,187 (GRCm39)	F15S	probably damaging	Het
Pde1c	A	T	6: 56,128,336 (GRCm39)	D332E	possibly damaging	Het
Pitpnm1	A	G	19: 4,162,835 (GRCm39)	I1143V	probably benign	Het
Rsl1	T	A	13: 67,325,120 (GRCm39)		probably null	Het
Scg2	A	C	1: 79,413,398 (GRCm39)	L442V	probably damaging	Het
Sez6l	A	T	5: 112,610,828 (GRCm39)	V530E	probably damaging	Het
Ubr4	T	C	4: 139,200,489 (GRCm39)	I4655T	possibly damaging	Het
Zcwpw1	T	C	5: 137,808,272 (GRCm39)		probably benign	Het

Other mutations in Jmjd6

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00959:Jmjd6	APN	11	116,733,202 (GRCm39)	missense	possibly damaging	0.68
IGL01877:Jmjd6	APN	11	116,733,519 (GRCm39)	missense	probably benign
IGL01941:Jmjd6	APN	11	116,732,184 (GRCm39)	splice site	probably null
IGL03396:Jmjd6	APN	11	116,732,077 (GRCm39)	missense	probably damaging	1.00
jumanji	UTSW	11	116,733,326 (GRCm39)	missense	probably damaging	1.00
R0675:Jmjd6	UTSW	11	116,731,353 (GRCm39)	missense	probably damaging	1.00
R1531:Jmjd6	UTSW	11	116,733,266 (GRCm39)	missense	probably benign
R2259:Jmjd6	UTSW	11	116,732,140 (GRCm39)	missense	probably damaging	1.00
R3937:Jmjd6	UTSW	11	116,731,991 (GRCm39)	missense	probably benign
R4284:Jmjd6	UTSW	11	116,733,534 (GRCm39)	missense	probably damaging	1.00
R5534:Jmjd6	UTSW	11	116,731,252 (GRCm39)	missense	probably damaging	1.00
R5881:Jmjd6	UTSW	11	116,730,682 (GRCm39)	nonsense	probably null
R6546:Jmjd6	UTSW	11	116,733,326 (GRCm39)	missense	probably damaging	1.00
R7468:Jmjd6	UTSW	11	116,733,275 (GRCm39)	missense	probably damaging	1.00
R7940:Jmjd6	UTSW	11	116,734,055 (GRCm39)	start gained	probably benign
R9370:Jmjd6	UTSW	11	116,729,952 (GRCm39)	missense	probably benign	0.00
R9790:Jmjd6	UTSW	11	116,733,438 (GRCm39)	missense	probably benign
R9791:Jmjd6	UTSW	11	116,733,438 (GRCm39)	missense	probably benign

Posted On

2015-04-16