Mutagenetix > Incidental Mutation

Incidental Mutation 'R8673:Esd'

661273

Institutional Source

Beutler Lab

Gene Symbol

Esd

Ensembl Gene

ENSMUSG00000021996

Gene Name

esterase D/formylglutathione hydrolase

Synonyms

Es10, Esd, Es-10

MMRRC Submission

068528-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.212) question?

Stock #

R8673 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74969737-74988205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74969952 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Serine at position 8 (F8S)

Ref Sequence

ENSEMBL: ENSMUSP00000135394 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022573] [ENSMUST00000175712] [ENSMUST00000175887] [ENSMUST00000176957] [ENSMUST00000177137] [ENSMUST00000177181] [ENSMUST00000177283]

AlphaFold

Q9R0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000022573

SMART Domains

Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:Esterase	23	275	8.1e-74	PFAM
Pfam:Chlorophyllase2	29	184	2.7e-8	PFAM
Pfam:Esterase_phd	30	231	1e-7	PFAM
Pfam:Abhydrolase_5	48	261	4.6e-9	PFAM
Pfam:Peptidase_S9	102	282	2.2e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175712

SMART Domains

Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:Esterase	23	131	4.5e-30	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000175887

SMART Domains

Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:Esterase	23	242	1.3e-57	PFAM
Pfam:Chlorophyllase2	29	186	2.6e-8	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000176957
AA Change: F8S

PolyPhen 2 Score 0.146 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: F8S

Domain	Start	End	E-Value	Type
Pfam:AXE1	26	198	1e-7	PFAM
Pfam:Esterase	36	288	6.6e-74	PFAM
Pfam:Abhydrolase_5	61	274	7.1e-9	PFAM
Pfam:Peptidase_S9	116	295	2.4e-7	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177137

SMART Domains

Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:Esterase	23	259	1.4e-68	PFAM
Pfam:Chlorophyllase2	29	184	2.2e-8	PFAM
Pfam:Esterase_phd	30	231	7.9e-8	PFAM
Pfam:Abhydrolase_5	48	247	5.3e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177181

SMART Domains

Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:Esterase	23	261	2e-68	PFAM
Pfam:Chlorophyllase2	29	184	2.3e-8	PFAM
Pfam:Esterase_phd	30	231	8.4e-8	PFAM
Pfam:Abhydrolase_5	48	248	5.6e-9	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000177283

SMART Domains

Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996

Domain	Start	End	E-Value	Type
Pfam:AXE1	16	185	1.1e-7	PFAM
Pfam:Esterase	23	247	1e-67	PFAM
Pfam:Chlorophyllase2	29	184	1.9e-8	PFAM
Pfam:Esterase_phd	30	231	2.5e-8	PFAM
Pfam:Abhydrolase_5	48	239	5.9e-9	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.4%

Validation Efficiency

98% (50/51)

Allele List at MGI

Other mutations in this stock

Total: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700067P10Rik	G	T	17: 48,400,849 (GRCm39)	E45*	probably null	Het
Anxa9	C	T	3: 95,207,657 (GRCm39)	R250Q	probably benign	Het
Apaf1	A	G	10: 90,831,530 (GRCm39)	S1195P	probably damaging	Het
Baiap2l1	T	A	5: 144,212,852 (GRCm39)		probably benign	Het
Bpifb6	G	T	2: 153,747,212 (GRCm39)	C172F	probably damaging	Het
Ccdc9	A	T	7: 16,018,286 (GRCm39)	D7E	probably damaging	Het
Cdcp3	A	T	7: 130,844,846 (GRCm39)	I580F	probably damaging	Het
Chchd6	T	A	6: 89,546,380 (GRCm39)	S109C	probably damaging	Het
Cltc	G	A	11: 86,648,201 (GRCm39)		probably benign	Het
Col4a6	G	A	X: 140,017,173 (GRCm39)	P60L	probably damaging	Het
Cxxc1	C	T	18: 74,351,915 (GRCm39)	T264I	probably benign	Het
D5Ertd579e	A	G	5: 36,830,151 (GRCm39)	S58P	probably benign	Het
Dlgap1	T	A	17: 71,122,293 (GRCm39)	H907Q	probably damaging	Het
Dnah2	A	T	11: 69,405,523 (GRCm39)	M663K	probably benign	Het
Dock8	G	A	19: 25,160,867 (GRCm39)	M1791I	probably damaging	Het
Etnk2	T	C	1: 133,302,300 (GRCm39)	Y273H	probably damaging	Het
Fry	C	A	5: 150,318,576 (GRCm39)	H935Q	possibly damaging	Het
Gabrr3	T	G	16: 59,235,633 (GRCm39)	M45R	possibly damaging	Het
Gata4	T	C	14: 63,478,258 (GRCm39)	T114A	probably benign	Het
Gcnt4	G	A	13: 97,082,997 (GRCm39)	D98N	probably benign	Het
Idh2	TCCCAGG	T	7: 79,748,079 (GRCm39)		probably benign	Het
Igkv1-99	C	T	6: 68,519,387 (GRCm39)	Q115*	probably null	Het
Irak3	G	T	10: 119,982,493 (GRCm39)	T323K	possibly damaging	Het
Lrp2	T	C	2: 69,302,804 (GRCm39)	D2975G	probably damaging	Het
Mybph	T	A	1: 134,126,142 (GRCm39)	W319R	probably damaging	Het
Nell1	A	G	7: 49,869,343 (GRCm39)	D206G	probably damaging	Het
Or10ag55-ps1	A	T	2: 87,114,658 (GRCm39)	D8V	probably benign	Het
Or4c105	T	C	2: 88,647,590 (GRCm39)	V25A	probably benign	Het
Or5b114-ps1	T	C	19: 13,352,581 (GRCm39)	I85T	probably benign	Het
Pex1	A	C	5: 3,685,886 (GRCm39)	D1209A	possibly damaging	Het
Phf10	T	C	17: 15,170,868 (GRCm39)	D355G	probably benign	Het
Psmd2	T	C	16: 20,475,638 (GRCm39)	S413P	probably damaging	Het
Ptgir	G	T	7: 16,641,287 (GRCm39)	C193F	probably damaging	Het
Rad21l	A	G	2: 151,502,718 (GRCm39)	I164T	possibly damaging	Het
Ralgapb	G	A	2: 158,292,133 (GRCm39)	R773H	probably damaging	Het
Rasgef1b	G	T	5: 99,370,844 (GRCm39)	N385K	probably damaging	Het
Shank3	C	T	15: 89,433,979 (GRCm39)	R1575C	probably damaging	Het
Slc7a2	G	T	8: 41,365,446 (GRCm39)		probably benign	Het
Spata1	T	A	3: 146,181,079 (GRCm39)	N293I	probably damaging	Het
Spen	C	T	4: 141,197,681 (GRCm39)	A3396T	probably benign	Het
Sphkap	T	C	1: 83,253,561 (GRCm39)	H1396R	probably benign	Het
Spire2	A	G	8: 124,086,867 (GRCm39)	E446G	probably damaging	Het
Tdpoz2	A	T	3: 93,558,918 (GRCm39)	C351*	probably null	Het
Thoc5	G	A	11: 4,876,061 (GRCm39)	V605I	possibly damaging	Het
Ttll2	C	T	17: 7,619,340 (GRCm39)	V196I	possibly damaging	Het
Uba6	A	G	5: 86,284,178 (GRCm39)	Y576H	probably damaging	Het
Vegfb	G	A	19: 6,962,812 (GRCm39)	P188L	unknown	Het
Vmn1r62	A	G	7: 5,678,277 (GRCm39)		probably benign	Het
Vmn2r73	T	A	7: 85,521,902 (GRCm39)	T146S	probably benign	Het
Wdr64	A	G	1: 175,633,584 (GRCm39)	Y945C	probably damaging	Het
Zfp870	C	T	17: 33,101,904 (GRCm39)	C475Y	probably damaging	Het
Zfp958	A	T	8: 4,678,268 (GRCm39)	T98S	possibly damaging	Het

Other mutations in Esd

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00324:Esd	APN	14	74,973,467 (GRCm39)	missense	probably damaging	1.00
IGL00534:Esd	APN	14	74,975,901 (GRCm39)	missense	probably damaging	0.99
IGL00904:Esd	APN	14	74,987,128 (GRCm39)	makesense	probably null
IGL01645:Esd	APN	14	74,987,159 (GRCm39)	missense	probably benign	0.00
IGL03117:Esd	APN	14	74,978,686 (GRCm39)	missense	probably damaging	1.00
R0766:Esd	UTSW	14	74,979,561 (GRCm39)	missense	probably damaging	1.00
R0939:Esd	UTSW	14	74,973,467 (GRCm39)	missense	probably damaging	1.00
R1862:Esd	UTSW	14	74,979,514 (GRCm39)	missense	probably damaging	1.00
R1892:Esd	UTSW	14	74,987,113 (GRCm39)	missense	probably damaging	0.96
R3922:Esd	UTSW	14	74,980,667 (GRCm39)	missense	probably benign	0.00
R4580:Esd	UTSW	14	74,979,517 (GRCm39)	missense	possibly damaging	0.55
R4830:Esd	UTSW	14	74,978,600 (GRCm39)	missense	probably damaging	1.00
R4969:Esd	UTSW	14	74,982,153 (GRCm39)	missense	possibly damaging	0.76
R5211:Esd	UTSW	14	74,978,632 (GRCm39)	missense	probably damaging	1.00
R5335:Esd	UTSW	14	74,979,553 (GRCm39)	missense	probably damaging	0.99
R5810:Esd	UTSW	14	74,983,051 (GRCm39)	missense	probably damaging	1.00
R7024:Esd	UTSW	14	74,982,102 (GRCm39)	missense	probably damaging	1.00
R7759:Esd	UTSW	14	74,983,007 (GRCm39)	nonsense	probably null
R9001:Esd	UTSW	14	74,983,123 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- TCTCAGAATGGGAGCAGCTC -3'
(R):5'- AAATCACCTATGGACGGCCG -3'

Sequencing Primer
(F):5'- CCAAAGGGAGGAGCCTCTAC -3'
(R):5'- AATTTTTACCACTGGGCACGG -3'

Posted On

2021-03-08