Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01877:Jmjd6'

178930

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 #

IGL01877

Quality Score

Status

Chromosome

Chromosomal Location

116728258-116734275 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 116733519 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 53 (Q53K)

Ref Sequence

ENSEMBL: ENSMUSP00000117922 (fasta)

Gene Model

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

AlphaFold

Q9ERI5

Predicted Effect

probably benign
Transcript: ENSMUST00000047616
AA Change: Q53K

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

SMART Domains

Protein: ENSMUSP00000047570
Gene: ENSMUSG00000056962
AA Change: Q53K

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
AA Change: Q5K

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

SMART Domains

Protein: ENSMUSP00000120850
Gene: ENSMUSG00000056962
AA Change: Q5K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000140513
AA Change: Q10K

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

SMART Domains

Protein: ENSMUSP00000115086
Gene: ENSMUSG00000056962
AA Change: Q10K

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

Predicted Effect

probably benign
Transcript: ENSMUST00000142495
AA Change: Q53K

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

SMART Domains

Protein: ENSMUSP00000117922
Gene: ENSMUSG00000056962
AA Change: Q53K

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141735

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000184052

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176765

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000175930

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000176799

Predicted Effect

probably benign
Transcript: ENSMUST00000140869

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: 26 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	A	G	8: 41,248,982 (GRCm39)	E364G	probably benign	Het
Aknad1	C	T	3: 108,682,406 (GRCm39)	P523S	probably damaging	Het
Alms1	T	A	6: 85,599,393 (GRCm39)	N1875K	possibly damaging	Het
Ano4	A	T	10: 88,860,932 (GRCm39)	Y179*	probably null	Het
Cacna1h	A	T	17: 25,607,024 (GRCm39)	F965I	probably damaging	Het
Cfh	T	A	1: 140,028,567 (GRCm39)	I1043F	probably damaging	Het
Galnt12	T	A	4: 47,112,315 (GRCm39)		probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm10717	A	T	9: 3,026,287 (GRCm39)	Y195F	probably damaging	Het
Gm10718	A	T	9: 3,025,118 (GRCm39)	Y194F	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gpr21	A	C	2: 37,408,093 (GRCm39)	N213T	probably benign	Het
Hexa	T	C	9: 59,471,163 (GRCm39)		probably benign	Het
Irag2	T	C	6: 145,093,525 (GRCm39)	S94P	probably damaging	Het
Itga6	T	C	2: 71,668,624 (GRCm39)	I521T	probably benign	Het
Mylk3	T	C	8: 86,085,671 (GRCm39)	T225A	possibly damaging	Het
Pcgf2	A	G	11: 97,583,359 (GRCm39)	V79A	probably damaging	Het
Setd1b	T	C	5: 123,286,511 (GRCm39)	M519T	unknown	Het
Slco1c1	T	C	6: 141,500,879 (GRCm39)	S454P	probably damaging	Het
Tubb1	C	A	2: 174,298,691 (GRCm39)	S124R	possibly damaging	Het
Umodl1	A	G	17: 31,201,294 (GRCm39)	I408V	probably benign	Het
Unc13b	T	C	4: 43,249,583 (GRCm39)		probably null	Het
Vmn2r129	C	T	4: 156,690,549 (GRCm39)		noncoding transcript	Het
Vmn2r80	A	G	10: 79,007,334 (GRCm39)		probably null	Het
Yipf4	T	G	17: 74,799,383 (GRCm39)	L41R	possibly damaging	Het
Zfyve26	A	G	12: 79,334,218 (GRCm39)	S267P	probably damaging	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
IGL01941:Jmjd6	APN	11	116,732,184 (GRCm39)	splice site	probably null
IGL02316:Jmjd6	APN	11	116,733,928 (GRCm39)	missense	possibly damaging	0.50
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

2014-05-07