Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01955:Ptges3l'

181400

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 #

IGL01955

Quality Score

Status

Chromosome

Chromosomal Location

101309634-101316154 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 101314644 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Glutamic Acid at position 13 (K13E)

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

probably benign
Transcript: ENSMUST00000093933
AA Change: K84E

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000091465
Gene: ENSMUSG00000097487
AA Change: K84E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000103102
AA Change: K84E

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000099391
Gene: ENSMUSG00000097487
AA Change: K84E

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

Predicted Effect

probably benign
Transcript: ENSMUST00000107252
AA Change: K84E

PolyPhen 2 Score 0.313 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000102873
Gene: ENSMUSG00000097487
AA Change: K84E

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: K66E

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102878
Gene: ENSMUSG00000097239
AA Change: K66E

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: K84E

PolyPhen 2 Score 0.168 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000102880
Gene: ENSMUSG00000097239
AA Change: K84E

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

possibly damaging
Transcript: ENSMUST00000149706
AA Change: K13E

PolyPhen 2 Score 0.942 (Sensitivity: 0.80; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000116399
Gene: ENSMUSG00000097487
AA Change: K13E

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: 39 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930432E11Rik	G	T	7: 29,273,420 (GRCm39)		noncoding transcript	Het
Abcc1	T	A	16: 14,228,659 (GRCm39)	I302N	probably damaging	Het
Abhd16a	A	G	17: 35,320,316 (GRCm39)	S394G	probably damaging	Het
Adgrv1	T	C	13: 81,330,902 (GRCm39)	Y71C	probably damaging	Het
Apol8	A	G	15: 77,633,899 (GRCm39)	C226R	probably benign	Het
Bbs7	A	G	3: 36,664,471 (GRCm39)	S45P	probably benign	Het
Cacna1b	T	C	2: 24,529,149 (GRCm39)	Y1575C	probably damaging	Het
Cckbr	T	A	7: 105,084,169 (GRCm39)	V301E	probably damaging	Het
Cwc27	A	G	13: 104,944,245 (GRCm39)	Y79H	probably damaging	Het
Dchs1	T	C	7: 105,406,798 (GRCm39)	T2236A	probably benign	Het
Ddx50	T	C	10: 62,482,962 (GRCm39)	R36G	probably benign	Het
Extl3	T	A	14: 65,313,415 (GRCm39)	Y589F	probably benign	Het
Gab2	T	C	7: 96,953,430 (GRCm39)	V601A	probably damaging	Het
Hsd3b1	T	A	3: 98,760,463 (GRCm39)	N176I	probably benign	Het
L3mbtl3	A	T	10: 26,194,336 (GRCm39)	S420R	unknown	Het
Odad2	C	T	18: 7,127,291 (GRCm39)	R974Q	possibly damaging	Het
Or2ak6	T	C	11: 58,592,955 (GRCm39)	S143P	probably damaging	Het
Or52e2	T	A	7: 102,804,061 (GRCm39)	K298*	probably null	Het
Or5g23	A	G	2: 85,439,051 (GRCm39)	F68L	probably benign	Het
Polr2a	T	C	11: 69,632,674 (GRCm39)	D974G	probably damaging	Het
Ptprk	A	G	10: 28,471,861 (GRCm39)		probably benign	Het
Rassf3	T	C	10: 121,253,027 (GRCm39)	Y60C	probably damaging	Het
Rnf157	T	C	11: 116,250,722 (GRCm39)	T160A	probably damaging	Het
Secisbp2l	A	G	2: 125,585,732 (GRCm39)		probably null	Het
Setd2	A	G	9: 110,378,386 (GRCm39)	T734A	probably benign	Het
Skint5	A	G	4: 113,480,933 (GRCm39)		probably null	Het
Slc38a9	A	G	13: 112,831,952 (GRCm39)		probably benign	Het
Snx17	T	G	5: 31,354,426 (GRCm39)		probably benign	Het
Tas2r113	A	T	6: 132,870,817 (GRCm39)	M282L	probably benign	Het
Tbc1d31	A	G	15: 57,805,766 (GRCm39)	N404D	probably benign	Het
Tmem63c	A	T	12: 87,123,982 (GRCm39)	I487F	probably benign	Het
Tpm3	A	G	3: 89,995,742 (GRCm39)	M164V	probably benign	Het
Trafd1	G	T	5: 121,513,217 (GRCm39)	N340K	probably benign	Het
Trpv4	T	A	5: 114,760,743 (GRCm39)	K863*	probably null	Het
Ttn	A	T	2: 76,627,696 (GRCm39)	M13003K	possibly damaging	Het
Tulp1	G	A	17: 28,575,398 (GRCm39)	T103M	probably damaging	Het
Unc5b	T	C	10: 60,614,034 (GRCm39)	T272A	probably benign	Het
Vmn1r82	A	C	7: 12,039,650 (GRCm39)		probably null	Het
Zc3h7b	A	G	15: 81,676,205 (GRCm39)	N704D	probably benign	Het

Other mutations in Ptges3l

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00851:Ptges3l	APN	11	101,314,616 (GRCm39)	missense	possibly damaging	0.62
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

2014-05-07