Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL00851:Ptges3l'

8515

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Ptges3l

Ensembl Gene

ENSMUSG00000097487

Gene Name

prostaglandin E synthase 3 like

Synonyms

1110069E20Rik, 1700113I22Rik

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.241) question?

Stock #

IGL00851

Quality Score

Status

Chromosome

Chromosomal Location

101309634-101316154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101314616 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Glycine at position 93 (E93G)

Ref Sequence

ENSEMBL: ENSMUSP00000102873 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000040561] [ENSMUST00000093933] [ENSMUST00000103102] [ENSMUST00000107252] [ENSMUST00000107257] [ENSMUST00000107259]

AlphaFold

Q9D9A7

Predicted Effect

probably benign
Transcript: ENSMUST00000040561

SMART Domains

Protein: ENSMUSP00000042151
Gene: ENSMUSG00000035007

Domain	Start	End	E-Value	Type
low complexity region	43	75	N/A	INTRINSIC
coiled coil region	80	102	N/A	INTRINSIC
coiled coil region	165	201	N/A	INTRINSIC
low complexity region	327	338	N/A	INTRINSIC
RUN	540	602	2.77e-21	SMART

Predicted Effect

possibly damaging
Transcript: ENSMUST00000093933
AA Change: E93G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487
AA Change: E93G

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	8.7e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000103102
AA Change: E93G

PolyPhen 2 Score 0.393 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099391
Gene: ENSMUSG00000097487
AA Change: E93G

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	7.3e-9	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000107252
AA Change: E93G

PolyPhen 2 Score 0.622 (Sensitivity: 0.87; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000102873
Gene: ENSMUSG00000097487
AA Change: E93G

Domain	Start	End	E-Value	Type
Pfam:CS	6	80	9.6e-9	PFAM
low complexity region	141	149	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107257
AA Change: E75G

PolyPhen 2 Score 0.187 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: E75G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2c	91	214	1.4e-8	PFAM
tRNA_SAD	309	352	1.43e-6	SMART
low complexity region	389	406	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000107259
AA Change: E93G

PolyPhen 2 Score 0.255 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: E93G

Domain	Start	End	E-Value	Type
Pfam:tRNA-synt_2c	109	232	3.4e-9	PFAM
tRNA_SAD	327	370	1.43e-6	SMART
low complexity region	407	424	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000149706
AA Change: E22G

SMART Domains

Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487
AA Change: E22G

Domain	Start	End	E-Value	Type
SCOP:d1ejfa_	2	41	6e-11	SMART
PDB:1EJF\|B	2	56	2e-13	PDB

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150957

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000185077

Coding Region Coverage

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 19 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abca15	T	C	7: 119,939,230 (GRCm39)	F208S	probably damaging	Het
Ank3	T	C	10: 69,710,663 (GRCm39)	I396T	probably damaging	Het
Atp9b	T	G	18: 80,809,125 (GRCm39)	E215A	probably damaging	Het
Ces1c	T	A	8: 93,849,745 (GRCm39)	I70F	probably benign	Het
Cntnap2	T	C	6: 46,461,006 (GRCm39)	Y681H	probably benign	Het
Diaph2	A	G	X: 128,872,296 (GRCm39)	K631R	unknown	Het
Gprasp2	A	G	X: 134,744,500 (GRCm39)	T620A	probably damaging	Het
Hgd	C	T	16: 37,452,057 (GRCm39)	S403F	probably damaging	Het
Hmcn1	T	C	1: 150,458,052 (GRCm39)	K5245E	probably benign	Het
Kng2	T	C	16: 22,847,580 (GRCm39)	D27G	probably damaging	Het
Myh1	C	T	11: 67,108,736 (GRCm39)	T1384M	probably damaging	Het
Myo1f	A	T	17: 33,800,938 (GRCm39)	M260L	probably benign	Het
Plcb2	A	G	2: 118,558,732 (GRCm39)	I24T	probably benign	Het
Prdx1	C	T	4: 116,550,147 (GRCm39)	R110C	probably benign	Het
Ralgapa1	T	C	12: 55,756,360 (GRCm39)	D1126G	possibly damaging	Het
Rbm48	T	C	5: 3,641,739 (GRCm39)	T169A	probably damaging	Het
Serpinb3b	T	A	1: 107,087,435 (GRCm39)	N25Y	probably damaging	Het
Tekt3	T	C	11: 62,961,226 (GRCm39)	Y132H	probably benign	Het
Tmod4	A	T	3: 95,032,891 (GRCm39)	E9V	probably damaging	Het

Other mutations in Ptges3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01955:Ptges3l	APN	11	101,314,644 (GRCm39)	missense	possibly damaging	0.94
R1183:Ptges3l	UTSW	11	101,312,731 (GRCm39)	missense	possibly damaging	0.79
R1450:Ptges3l	UTSW	11	101,312,731 (GRCm39)	missense	possibly damaging	0.93
R2513:Ptges3l	UTSW	11	101,314,868 (GRCm39)	missense	possibly damaging	0.81
R3830:Ptges3l	UTSW	11	101,312,443 (GRCm39)	makesense	probably null
R4846:Ptges3l	UTSW	11	101,310,010 (GRCm39)	unclassified	probably benign
R4965:Ptges3l	UTSW	11	101,315,448 (GRCm39)	start codon destroyed	probably null	0.32
R7430:Ptges3l	UTSW	11	101,314,641 (GRCm39)	missense	possibly damaging	0.90

Posted On

2012-12-06