Mutagenetix > Incidental Mutation

Incidental Mutation 'R7024:Esd'

545861

Institutional Source

Beutler Lab

Gene Symbol

Esd

Ensembl Gene

ENSMUSG00000021996

Gene Name

esterase D/formylglutathione hydrolase

Synonyms

Es10, Esd, Es-10

MMRRC Submission

045125-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.197) question?

Stock #

R7024 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

74969737-74988205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74982102 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Leucine at position 172 (F172L)

Ref Sequence

ENSEMBL: ENSMUSP00000135063 (fasta)

Gene Model

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

AlphaFold

Q9R0P3

Predicted Effect

probably damaging
Transcript: ENSMUST00000022573
AA Change: F172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: F172L

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: ENSMUST00000176726

Predicted Effect

probably damaging
Transcript: ENSMUST00000176957
AA Change: F185L

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: F185L

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 damaging
Transcript: ENSMUST00000177137
AA Change: F172L

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: F172L

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 damaging
Transcript: ENSMUST00000177181
AA Change: F172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: F172L

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 damaging
Transcript: ENSMUST00000177283
AA Change: F172L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: F172L

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

Meta Mutation Damage Score

0.5777

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

97% (61/63)

Allele List at MGI

Other mutations in this stock

Total: 63 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2310079G19Rik	A	G	16: 88,424,108 (GRCm39)	S128P	probably damaging	Het
Abcc1	G	C	16: 14,231,247 (GRCm39)		probably null	Het
Atg2a	G	A	19: 6,300,249 (GRCm39)	G686S	possibly damaging	Het
Atrnl1	A	T	19: 57,626,882 (GRCm39)		probably null	Het
Brd4	T	C	17: 32,440,884 (GRCm39)		probably benign	Het
Camsap3	A	G	8: 3,658,242 (GRCm39)	E688G	probably damaging	Het
Cc2d2a	T	A	5: 43,891,271 (GRCm39)	S1402R	probably benign	Het
Ccnb1	A	G	13: 100,922,888 (GRCm39)		probably null	Het
Cdc42bpb	G	A	12: 111,292,519 (GRCm39)	H339Y	probably damaging	Het
Ciart	T	A	3: 95,786,392 (GRCm39)	T94S	probably benign	Het
Col6a5	T	A	9: 105,789,674 (GRCm39)	K1540*	probably null	Het
Csmd3	A	T	15: 47,574,387 (GRCm39)	V1969E	probably damaging	Het
Dgka	T	G	10: 128,556,356 (GRCm39)	N710T	probably damaging	Het
Dock6	A	G	9: 21,731,666 (GRCm39)	V1212A	probably benign	Het
Dync2i2	A	G	2: 29,928,278 (GRCm39)	V116A	possibly damaging	Het
En1	C	T	1: 120,531,051 (GRCm39)	P97L	unknown	Het
Gfer	C	A	17: 24,914,942 (GRCm39)	D34Y	probably damaging	Het
Gm2832	G	A	14: 41,001,696 (GRCm39)	M68I		Het
Hmgcr	A	G	13: 96,795,418 (GRCm39)	S384P	probably benign	Het
Hsp90aa1	T	C	12: 110,660,546 (GRCm39)	T299A	possibly damaging	Het
Igsf10	A	G	3: 59,239,122 (GRCm39)	M353T	probably benign	Het
Ino80b	T	C	6: 83,099,306 (GRCm39)	T211A	probably benign	Het
Lamb2	C	A	9: 108,366,687 (GRCm39)	T1607K	probably benign	Het
Lhfpl5	A	G	17: 28,801,957 (GRCm39)	E218G	probably benign	Het
Lpo	C	A	11: 87,707,269 (GRCm39)	C248F	probably damaging	Het
Lrrc3	C	T	10: 77,736,825 (GRCm39)	D204N	probably damaging	Het
Mavs	C	A	2: 131,085,051 (GRCm39)	L160I	probably benign	Het
Morn4	C	T	19: 42,066,483 (GRCm39)	D35N	possibly damaging	Het
Mroh8	G	A	2: 157,063,183 (GRCm39)	H813Y	probably benign	Het
Myf6	T	C	10: 107,330,390 (GRCm39)	E59G	probably damaging	Het
Nhsl3	T	A	4: 129,119,201 (GRCm39)	E173V	probably null	Het
Nlrp10	T	A	7: 108,524,405 (GRCm39)	E358D	possibly damaging	Het
Odad2	A	C	18: 7,211,593 (GRCm39)	D760E	probably benign	Het
Optn	T	C	2: 5,057,648 (GRCm39)		probably null	Het
Or12e8	A	G	2: 87,188,066 (GRCm39)	T93A	probably benign	Het
Or13a19	T	C	7: 139,902,759 (GRCm39)	I49T	possibly damaging	Het
Or1e1d-ps1	T	A	11: 73,819,332 (GRCm39)	L94*	probably null	Het
Or1o1	T	C	17: 37,717,095 (GRCm39)	F219L	probably benign	Het
Or5g9	T	A	2: 85,551,952 (GRCm39)	F68I	probably damaging	Het
Or7g28	T	C	9: 19,272,579 (GRCm39)	E24G	possibly damaging	Het
Plxna4	T	A	6: 32,169,204 (GRCm39)	H1331L	probably damaging	Het
Poli	A	T	18: 70,649,920 (GRCm39)	M357K	possibly damaging	Het
Psd4	T	G	2: 24,284,555 (GRCm39)	C140G	possibly damaging	Het
Rab3gap1	T	A	1: 127,818,835 (GRCm39)		probably null	Het
Rasa3	T	C	8: 13,681,826 (GRCm39)	N41S	probably benign	Het
Rps6kc1	A	G	1: 190,532,407 (GRCm39)	S532P	probably benign	Het
S100a3	T	A	3: 90,509,747 (GRCm39)		probably null	Het
Sfrp5	T	C	19: 42,190,204 (GRCm39)	K83E	possibly damaging	Het
Slco1a4	T	C	6: 141,780,434 (GRCm39)	I119V	probably benign	Het
Snx15	T	A	19: 6,170,626 (GRCm39)	Q271L	probably damaging	Het
Sorcs2	C	A	5: 36,178,605 (GRCm39)	S1128I	probably damaging	Het
Tbc1d7	A	T	13: 43,308,211 (GRCm39)	F85I	probably damaging	Het
Thoc7	A	G	14: 13,953,528 (GRCm38)	Y46H	probably damaging	Het
Top1mt	T	A	15: 75,539,297 (GRCm39)	Y366F	probably damaging	Het
Trpv2	C	A	11: 62,475,287 (GRCm39)	S233R	probably benign	Het
Vav1	C	A	17: 57,586,268 (GRCm39)	T24N	probably damaging	Het
Vmn2r111	T	C	17: 22,778,032 (GRCm39)	N549S	possibly damaging	Het
Wdfy4	G	T	14: 32,686,583 (GRCm39)		probably null	Het
Wdr3	A	G	3: 100,062,313 (GRCm39)	S201P	probably benign	Het
Wfs1	C	T	5: 37,124,294 (GRCm39)	D866N	probably damaging	Het
Wnk1	A	T	6: 119,942,687 (GRCm39)		probably benign	Het
Xpot	G	T	10: 121,438,304 (GRCm39)	Q762K	probably benign	Het
Zfp287	A	T	11: 62,605,764 (GRCm39)	L370H	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
R7759:Esd	UTSW	14	74,983,007 (GRCm39)	nonsense	probably null
R8673:Esd	UTSW	14	74,969,952 (GRCm39)	missense	probably benign	0.15
R9001:Esd	UTSW	14	74,983,123 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- ACTTGCATTCAACAATTCGGTCTG -3'
(R):5'- GATGTAGACCCCATGAACACAG -3'

Sequencing Primer
(F):5'- GCATTCAACAATTCGGTCTGTGAAG -3'
(R):5'- TAGACCCCATGAACACAGAGGAG -3'

Posted On

2019-05-13