Mutagenetix > Incidental Mutation

Incidental Mutation 'R4969:Esd'

384299

Institutional Source

Beutler Lab

Gene Symbol

Esd

Ensembl Gene

ENSMUSG00000021996

Gene Name

esterase D/formylglutathione hydrolase

Synonyms

Es10, Esd, Es-10

Accession Numbers

Essential gene?

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

Stock #

R4969 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74969737-74988205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 74982153 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Serine to Arginine at position 189 (S189R)

Ref Sequence

ENSEMBL: ENSMUSP00000135035 (fasta)

Gene Model

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

AlphaFold

Q9R0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000022573
AA Change: S189R

PolyPhen 2 Score 0.172 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: S189R

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

noncoding transcript
Transcript: ENSMUST00000176188

Predicted Effect

probably benign
Transcript: ENSMUST00000176726

Predicted Effect

probably benign
Transcript: ENSMUST00000176957
AA Change: S202R

PolyPhen 2 Score 0.202 (Sensitivity: 0.92; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: S202R

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
AA Change: S189R

PolyPhen 2 Score 0.027 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: S189R

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

possibly damaging
Transcript: ENSMUST00000177181
AA Change: S189R

PolyPhen 2 Score 0.761 (Sensitivity: 0.85; Specificity: 0.92)

SMART Domains

Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: S189R

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

possibly damaging
Transcript: ENSMUST00000177283
AA Change: S189R

PolyPhen 2 Score 0.586 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: S189R

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

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000177445

Coding Region Coverage

1x: 99.1%
3x: 98.4%
10x: 96.6%
20x: 93.2%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 73 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcc8	A	G	7: 45,754,943 (GRCm39)	I1525T	probably benign	Het
Agtpbp1	A	G	13: 59,648,392 (GRCm39)	V476A	probably benign	Het
Aipl1	A	G	11: 71,922,256 (GRCm39)	I151T	probably benign	Het
Apc	C	T	18: 34,445,971 (GRCm39)	R938*	probably null	Het
Atp2a2	A	G	5: 122,596,554 (GRCm39)	F855S	possibly damaging	Het
Axdnd1	T	C	1: 156,223,075 (GRCm39)	T261A	possibly damaging	Het
Cbfa2t2	A	G	2: 154,365,900 (GRCm39)	D370G	probably damaging	Het
Cep350	T	C	1: 155,736,025 (GRCm39)	I2964V	probably damaging	Het
Clec16a	T	C	16: 10,386,375 (GRCm39)	V158A	probably damaging	Het
Col6a5	G	A	9: 105,741,806 (GRCm39)	T2371I	probably damaging	Het
Cpne8	T	C	15: 90,503,929 (GRCm39)	T79A	probably damaging	Het
Cyp2b13	A	G	7: 25,780,413 (GRCm39)	R145G	probably damaging	Het
Disc1	G	A	8: 125,851,289 (GRCm39)	W391*	probably null	Het
Dnah8	G	A	17: 30,941,988 (GRCm39)	V1745I	probably damaging	Het
Dsp	T	C	13: 38,376,886 (GRCm39)	V1557A	probably benign	Het
Egfem1	T	A	3: 29,637,145 (GRCm39)	Y194N	probably damaging	Het
Eif4a3	A	G	11: 119,179,705 (GRCm39)	Y361H	probably damaging	Het
Fancf	A	T	7: 51,511,196 (GRCm39)	Y269*	probably null	Het
Fbln2	A	T	6: 91,248,569 (GRCm39)	H1078L	possibly damaging	Het
Fbxw13	A	G	9: 109,010,592 (GRCm39)		probably null	Het
Fcgr2b	A	T	1: 170,790,941 (GRCm39)	V284D	probably benign	Het
Fuz	G	A	7: 44,549,718 (GRCm39)	G363R	probably damaging	Het
Gas7	A	G	11: 67,574,234 (GRCm39)	E403G	probably damaging	Het
Gnl1	A	G	17: 36,291,581 (GRCm39)	D49G	possibly damaging	Het
Gucy2g	A	G	19: 55,214,445 (GRCm39)	V561A	probably benign	Het
H1f7	A	T	15: 98,154,216 (GRCm39)	V311E	unknown	Het
Hebp2	T	C	10: 18,420,122 (GRCm39)	T104A	probably benign	Het
Ighv1-19	T	A	12: 114,672,377 (GRCm39)	Q80L	probably benign	Het
Kctd19	T	A	8: 106,122,959 (GRCm39)		probably null	Het
Kdm3b	T	C	18: 34,955,428 (GRCm39)	L905P	probably damaging	Het
Klkb1	T	C	8: 45,735,814 (GRCm39)	D183G	probably benign	Het
Krt6b	T	C	15: 101,588,460 (GRCm39)	R67G	possibly damaging	Het
Krt75	T	C	15: 101,482,248 (GRCm39)	I7V	probably benign	Het
Lpo	A	T	11: 87,697,751 (GRCm39)	N685K	probably benign	Het
Mroh7	A	T	4: 106,538,070 (GRCm39)	I1202N	probably benign	Het
Muc4	T	A	16: 32,754,572 (GRCm38)	M1482K	probably benign	Het
Mylk	T	A	16: 34,791,810 (GRCm39)	V1494E	probably damaging	Het
Neurl4	A	G	11: 69,801,913 (GRCm39)	D17G	probably damaging	Het
Nkx6-3	A	G	8: 23,647,725 (GRCm39)	Y228C	probably damaging	Het
Nprl2	G	A	9: 107,420,273 (GRCm39)		probably null	Het
Nxf1	A	G	19: 8,739,669 (GRCm39)		probably null	Het
Or4a39	A	G	2: 89,236,770 (GRCm39)	F218L	probably benign	Het
Or52u1	A	T	7: 104,237,730 (GRCm39)	N240Y	probably damaging	Het
Pde3b	A	G	7: 114,118,847 (GRCm39)	E662G	possibly damaging	Het
Plekhm3	G	A	1: 64,977,078 (GRCm39)	R131C	probably damaging	Het
Plpp7	T	C	2: 31,985,950 (GRCm39)	S43P	probably benign	Het
Pramel5	A	G	4: 143,998,187 (GRCm39)	L352P	probably damaging	Het
Prepl	T	C	17: 85,395,902 (GRCm39)	S27G	probably benign	Het
Ptprd	A	G	4: 76,051,542 (GRCm39)	I227T	probably damaging	Het
Pttg1ip	C	T	10: 77,419,854 (GRCm39)	Q6*	probably null	Het
Rgl1	C	T	1: 152,424,813 (GRCm39)		probably null	Het
Riiad1	C	A	3: 94,380,173 (GRCm39)	G41*	probably null	Het
Rnf214	C	T	9: 45,807,486 (GRCm39)	R239H	probably damaging	Het
Rpap3	C	T	15: 97,584,407 (GRCm39)	V346I	probably benign	Het
Scaf4	G	A	16: 90,048,831 (GRCm39)	Q328*	probably null	Het
Sec23a	A	G	12: 59,051,274 (GRCm39)		probably null	Het
Slc5a8	T	A	10: 88,740,774 (GRCm39)		probably null	Het
Slc9a8	A	G	2: 167,288,449 (GRCm39)	T183A	probably benign	Het
Sod3	A	T	5: 52,525,736 (GRCm39)	H145L	probably damaging	Het
Sp4	A	G	12: 118,263,341 (GRCm39)	V235A	probably damaging	Het
Spp1	A	C	5: 104,588,153 (GRCm39)	E185A	possibly damaging	Het
Susd1	A	T	4: 59,351,679 (GRCm39)	W461R	probably benign	Het
Svil	A	C	18: 5,095,516 (GRCm39)	K1124Q	probably damaging	Het
Tdrd12	A	T	7: 35,186,720 (GRCm39)		probably null	Het
Terb1	A	T	8: 105,221,795 (GRCm39)	N168K	probably benign	Het
Tnnt1	A	G	7: 4,510,573 (GRCm39)	L216P	probably damaging	Het
Ttc28	A	G	5: 111,424,121 (GRCm39)	K1463E	probably damaging	Het
Twf2	T	G	9: 106,089,098 (GRCm39)		probably null	Het
Urb1	C	T	16: 90,602,299 (GRCm39)	R90Q	probably damaging	Het
Wdr45b	A	T	11: 121,219,650 (GRCm39)	C299*	probably null	Het
Wrap73	A	G	4: 154,237,138 (GRCm39)	S54G	probably damaging	Het
Zeb2	T	C	2: 44,888,931 (GRCm39)	K323R	probably damaging	Het
Zfp410	T	C	12: 84,378,582 (GRCm39)	I302T	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
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
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'- TGAAGAAGCCACAGTTGCAG -3'
(R):5'- AGGTCTGAACACATTAATGACAAAC -3'

Sequencing Primer
(F):5'- GATGGCACAAGTTGCAAA -3'
(R):5'- GTTCCTTTTAGTTCAGTCTACAGATG -3'

Posted On

2016-04-27