Mutagenetix > Incidental Mutation

Incidental Mutation 'R5335:Esd'

423492

Institutional Source

Beutler Lab

Gene Symbol

Esd

Ensembl Gene

ENSMUSG00000021996

Gene Name

esterase D/formylglutathione hydrolase

Synonyms

Es10, Esd, Es-10

MMRRC Submission

042916-MU

Accession Numbers

Essential gene?

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

Stock #

R5335 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

74969737-74988205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 74979553 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Isoleucine at position 119 (R119I)

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: R119I

PolyPhen 2 Score 0.983 (Sensitivity: 0.75; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: R119I

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 damaging
Transcript: ENSMUST00000175712
AA Change: R119I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: R119I

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000175887
AA Change: R119I

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: R119I

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

noncoding transcript
Transcript: ENSMUST00000176484

Predicted Effect

unknown
Transcript: ENSMUST00000176726
AA Change: R70I

Predicted Effect

probably damaging
Transcript: ENSMUST00000176957
AA Change: R132I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: R132I

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: R119I

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: R119I

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: R119I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: R119I

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: R119I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: R119I

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

Meta Mutation Damage Score

0.5279

Coding Region Coverage

1x: 99.3%
3x: 98.8%
10x: 97.6%
20x: 96.1%

Validation Efficiency

98% (62/63)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2010003K11Rik	A	G	19: 4,548,292 (GRCm39)	W86R	probably damaging	Het
Ankrd6	T	C	4: 32,818,651 (GRCm39)	E225G	probably damaging	Het
Atxn10	A	G	15: 85,220,785 (GRCm39)		probably null	Het
Bcas2	A	G	3: 103,082,951 (GRCm39)	I146V	probably damaging	Het
C2cd6	T	A	1: 59,043,393 (GRCm39)		noncoding transcript	Het
Cachd1	G	A	4: 100,825,282 (GRCm39)	V579I	possibly damaging	Het
Col11a1	A	G	3: 113,888,889 (GRCm39)	T311A	unknown	Het
Cyp2c50	A	T	19: 40,079,060 (GRCm39)	L134F	probably benign	Het
Cyp2j11	T	C	4: 96,195,589 (GRCm39)	H369R	probably damaging	Het
Dis3	A	G	14: 99,335,089 (GRCm39)	V171A	possibly damaging	Het
Dnah12	A	G	14: 26,601,695 (GRCm39)	N3718D	probably damaging	Het
Dnah17	T	C	11: 118,003,340 (GRCm39)	I541V	probably damaging	Het
Eif3i	T	C	4: 129,488,979 (GRCm39)	D86G	probably benign	Het
Epc1	C	T	18: 6,490,689 (GRCm39)		probably benign	Het
Epc2	A	G	2: 49,403,242 (GRCm39)	N110S	probably benign	Het
Epha8	A	T	4: 136,659,246 (GRCm39)	L831Q	probably damaging	Het
F2	T	C	2: 91,465,277 (GRCm39)	K96E	possibly damaging	Het
Fcgbp	T	C	7: 27,789,159 (GRCm39)	V575A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gemin6	T	C	17: 80,533,184 (GRCm39)	V39A	probably damaging	Het
Glmp	G	T	3: 88,233,962 (GRCm39)		probably benign	Het
Gm10306	C	A	4: 94,445,044 (GRCm39)		probably benign	Het
Gm4846	A	T	1: 166,325,022 (GRCm39)	L23*	probably null	Het
Grik1	CGG	CGGG	16: 87,720,082 (GRCm39)		probably null	Het
Ifi203	T	C	1: 173,754,485 (GRCm39)	T749A	possibly damaging	Het
Kcnip2	C	A	19: 45,782,685 (GRCm39)	A133S	probably benign	Het
Limch1	A	T	5: 67,039,300 (GRCm39)	I76F	probably damaging	Het
Mcph1	T	A	8: 18,739,077 (GRCm39)		probably null	Het
Mplkipl1	C	T	19: 61,164,364 (GRCm39)	G24R	unknown	Het
Mtcl3	A	T	10: 29,023,102 (GRCm39)	I150L	probably benign	Het
Myh7	A	G	14: 55,224,020 (GRCm39)		probably benign	Het
Odad2	A	T	18: 7,294,566 (GRCm39)	Y16N	probably benign	Het
Opcml	A	G	9: 28,586,621 (GRCm39)	D113G	possibly damaging	Het
Or1j17	A	T	2: 36,578,106 (GRCm39)	I31F	probably benign	Het
Or1x2	A	C	11: 50,918,161 (GRCm39)	N111H	probably benign	Het
Or2ag18	A	C	7: 106,404,941 (GRCm39)	S243A	probably damaging	Het
Or2b6	A	C	13: 21,822,949 (GRCm39)	V248G	probably damaging	Het
Or51f1d	A	C	7: 102,700,742 (GRCm39)	D79A	probably damaging	Het
Or52s19	A	C	7: 103,007,729 (GRCm39)	L224R	probably damaging	Het
Or5j1	T	G	2: 86,879,509 (GRCm39)	K24Q	probably damaging	Het
Pcdhb1	G	T	18: 37,400,308 (GRCm39)	C753F	probably benign	Het
Phip	T	C	9: 82,782,809 (GRCm39)	S879G	possibly damaging	Het
Pi4k2b	A	G	5: 52,899,098 (GRCm39)	D13G	possibly damaging	Het
Ptpn18	A	T	1: 34,502,259 (GRCm39)	I68F	probably damaging	Het
Rnf168	C	T	16: 32,117,402 (GRCm39)	T321I	possibly damaging	Het
Sp110	C	G	1: 85,516,839 (GRCm39)	E219D	probably damaging	Het
Srgap1	C	T	10: 121,621,282 (GRCm39)		probably benign	Het
Sry	A	T	Y: 2,663,647 (GRCm39)	H4Q	probably benign	Het
Taf2	G	A	15: 54,909,136 (GRCm39)	A703V	probably benign	Het
Taf5l	A	G	8: 124,730,390 (GRCm39)	F65L	probably damaging	Het
Tcp10b	T	C	17: 13,281,954 (GRCm39)		probably null	Het
Timm44	A	T	8: 4,316,814 (GRCm39)	I273N	probably damaging	Het
Tspan4	A	G	7: 141,069,528 (GRCm39)	T43A	probably damaging	Het
Ube2r2	T	C	4: 41,190,846 (GRCm39)		probably benign	Het
Urgcp	T	C	11: 5,667,754 (GRCm39)	T195A	possibly damaging	Het
Vmn1r197	T	C	13: 22,512,361 (GRCm39)	I94T	probably damaging	Het
Vmn2r15	A	T	5: 109,434,673 (GRCm39)	I677K	probably damaging	Het
Zfp853	T	A	5: 143,274,318 (GRCm39)	H434L	unknown	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
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'- GTTCCATTGTGTGTAGACGC -3'
(R):5'- AACTGCAGGAGCTATAATATTGGG -3'

Sequencing Primer
(F):5'- TTATAGGTAGGTGCCACTGAACCC -3'
(R):5'- TGCAGGAGCTATAATATTGGGAAATC -3'

Posted On

2016-08-04