Mutagenetix > Incidental Mutation

Incidental Mutation 'R4580:Esd'

343626

Institutional Source

Beutler Lab

Gene Symbol

Esd

Ensembl Gene

ENSMUSG00000021996

Gene Name

esterase D/formylglutathione hydrolase

Synonyms

Es10, Esd, Es-10

MMRRC Submission

041599-MU

Accession Numbers

Essential gene?

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

Stock #

R4580 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

74969737-74988205 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 74979517 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 120 (V120A)

Ref Sequence

ENSEMBL: ENSMUSP00000135394 (fasta)

Gene Model

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

AlphaFold

Q9R0P3

Predicted Effect

probably benign
Transcript: ENSMUST00000022573
AA Change: V107A

PolyPhen 2 Score 0.295 (Sensitivity: 0.91; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000022573
Gene: ENSMUSG00000021996
AA Change: V107A

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
AA Change: V107A

PolyPhen 2 Score 0.144 (Sensitivity: 0.92; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000134932
Gene: ENSMUSG00000021996
AA Change: V107A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175887
AA Change: V107A

PolyPhen 2 Score 0.030 (Sensitivity: 0.95; Specificity: 0.82)

SMART Domains

Protein: ENSMUSP00000135244
Gene: ENSMUSG00000021996
AA Change: V107A

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: V58A

Predicted Effect

possibly damaging
Transcript: ENSMUST00000176957
AA Change: V120A

PolyPhen 2 Score 0.553 (Sensitivity: 0.88; Specificity: 0.91)

SMART Domains

Protein: ENSMUSP00000135394
Gene: ENSMUSG00000021996
AA Change: V120A

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: ENSMUST00000177181
AA Change: V107A

PolyPhen 2 Score 0.278 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000135035
Gene: ENSMUSG00000021996
AA Change: V107A

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

noncoding transcript
Transcript: ENSMUST00000177445

Predicted Effect

probably benign
Transcript: ENSMUST00000177283
AA Change: V107A

PolyPhen 2 Score 0.131 (Sensitivity: 0.93; Specificity: 0.86)

SMART Domains

Protein: ENSMUSP00000135063
Gene: ENSMUSG00000021996
AA Change: V107A

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

probably benign
Transcript: ENSMUST00000177137
AA Change: V107A

PolyPhen 2 Score 0.167 (Sensitivity: 0.92; Specificity: 0.87)

SMART Domains

Protein: ENSMUSP00000135818
Gene: ENSMUSG00000021996
AA Change: V107A

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

Coding Region Coverage

1x: 99.3%
3x: 98.6%
10x: 97.1%
20x: 94.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 74 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
2810408A11Rik	T	C	11: 69,791,237 (GRCm39)	Y114C	probably damaging	Het
Abcc2	T	C	19: 43,799,558 (GRCm39)	S556P	probably damaging	Het
Arl6ip1	AAAATAAATAAATAAATAAATAAATA	AAAATAAATAAATAAATAAATAAATAAATA	7: 117,721,122 (GRCm39)		probably benign	Het
Atp6v1g1	A	G	4: 63,468,269 (GRCm39)	N91D	probably benign	Het
BC005537	G	T	13: 24,987,394 (GRCm39)	A11S	probably benign	Het
Bltp1	A	T	3: 37,084,174 (GRCm39)	T3864S	probably benign	Het
Bub1	A	C	2: 127,671,596 (GRCm39)		probably null	Het
Ccdc162	T	C	10: 41,437,136 (GRCm39)	T1758A	probably benign	Het
Cdh15	T	C	8: 123,591,897 (GRCm39)	L594P	probably damaging	Het
Cobll1	C	T	2: 64,981,417 (GRCm39)	V90I	probably benign	Het
Cog2	T	C	8: 125,271,875 (GRCm39)	V463A	probably benign	Het
Cpeb4	T	A	11: 31,877,757 (GRCm39)		probably null	Het
Creb5	G	A	6: 53,581,519 (GRCm39)	M172I	possibly damaging	Het
Cyp4a32	T	C	4: 115,460,126 (GRCm39)		silent	Het
Dnah8	T	A	17: 30,881,026 (GRCm39)	S588T	probably benign	Het
Ecpas	T	C	4: 58,840,751 (GRCm39)	Y669C	probably damaging	Het
Fbxo5	T	C	10: 5,755,255 (GRCm39)		probably null	Het
Gm4922	T	C	10: 18,659,432 (GRCm39)	D430G	probably benign	Het
Golga4	C	A	9: 118,386,327 (GRCm39)	Q1150K	probably benign	Het
Grb14	T	C	2: 64,783,947 (GRCm39)	N60S	probably benign	Het
Grk4	A	G	5: 34,818,325 (GRCm39)	N2S	probably damaging	Het
Henmt1	T	A	3: 108,850,081 (GRCm39)	S21R	probably benign	Het
Ifngr2	A	G	16: 91,354,906 (GRCm39)	K113E	probably benign	Het
Ighv15-2	T	A	12: 114,528,590 (GRCm39)	T15S	probably benign	Het
Kif24	A	G	4: 41,395,287 (GRCm39)	S529P	probably damaging	Het
Large2	T	C	2: 92,200,957 (GRCm39)	N51S	possibly damaging	Het
Lmtk2	A	G	5: 144,111,599 (GRCm39)	E773G	possibly damaging	Het
Lrfn3	A	T	7: 30,059,467 (GRCm39)	C253S	probably damaging	Het
Maea	T	C	5: 33,517,832 (GRCm39)	V130A	possibly damaging	Het
Marchf11	A	T	15: 26,311,189 (GRCm39)	I222F	probably damaging	Het
Mast4	A	T	13: 102,873,766 (GRCm39)	Y1699*	probably null	Het
Mavs	G	T	2: 131,082,370 (GRCm39)	A85S	probably damaging	Het
Mpzl3	T	A	9: 44,979,529 (GRCm39)	V160E	possibly damaging	Het
Myh15	T	C	16: 48,885,388 (GRCm39)	S88P	possibly damaging	Het
Myl2	A	T	5: 122,244,801 (GRCm39)	H157L	probably benign	Het
Myo9b	A	G	8: 71,767,779 (GRCm39)	N284S	probably damaging	Het
Nphp1	A	G	2: 127,610,089 (GRCm39)		probably null	Het
Nrcam	T	C	12: 44,609,323 (GRCm39)		probably null	Het
Nt5c3b	G	T	11: 100,323,885 (GRCm39)	F134L	probably damaging	Het
Or4c120	T	A	2: 89,001,544 (GRCm39)	Q4L	probably benign	Het
Otog	A	G	7: 45,937,225 (GRCm39)	R1645G	possibly damaging	Het
Pask	T	C	1: 93,249,830 (GRCm39)	I523M	probably benign	Het
Pcdhb7	T	A	18: 37,475,188 (GRCm39)	L108Q	probably damaging	Het
Pdp2	C	A	8: 105,321,576 (GRCm39)	T475K	probably damaging	Het
Pgbd1	G	C	13: 21,612,499 (GRCm39)	P113A	probably benign	Het
Plk5	C	T	10: 80,196,301 (GRCm39)	H291Y	possibly damaging	Het
Pmpca	G	T	2: 26,283,347 (GRCm39)	S382I	probably damaging	Het
Prl3b1	A	G	13: 27,433,450 (GRCm39)	T202A	possibly damaging	Het
Ptgs2	A	T	1: 149,979,845 (GRCm39)	T317S	possibly damaging	Het
Ptprc	C	T	1: 137,998,989 (GRCm39)	M1020I	probably benign	Het
Rhbdl3	T	C	11: 80,244,471 (GRCm39)	Y393H	probably damaging	Het
Sema3e	T	C	5: 14,283,717 (GRCm39)	L482P	probably damaging	Het
Setd2	C	T	9: 110,403,311 (GRCm39)	T1984I	probably benign	Het
Slc17a1	T	C	13: 24,071,960 (GRCm39)	Y393H	probably damaging	Het
Slc9a3	C	T	13: 74,307,005 (GRCm39)	R377*	probably null	Het
Slitrk3	A	G	3: 72,958,539 (GRCm39)	S78P	probably damaging	Het
Smim35	G	T	9: 45,155,426 (GRCm39)		probably null	Het
Specc1	T	A	11: 62,110,157 (GRCm39)	V1054E	probably damaging	Het
Tbc1d4	T	C	14: 101,696,219 (GRCm39)	T847A	probably benign	Het
Tcf7l2	G	A	19: 55,907,468 (GRCm39)	G343R	probably damaging	Het
Tex36	A	C	7: 133,189,111 (GRCm39)	Y154D	possibly damaging	Het
Topaz1	T	A	9: 122,576,580 (GRCm39)	M57K	probably null	Het
Trav6-4	T	C	14: 53,692,156 (GRCm39)	Y85H	probably damaging	Het
Trim30d	A	G	7: 104,121,765 (GRCm39)	Y327H	possibly damaging	Het
Ttn	A	G	2: 76,781,740 (GRCm39)	V1056A	probably benign	Het
Usp32	C	A	11: 84,949,953 (GRCm39)		probably null	Het
Vmn1r59	A	T	7: 5,457,136 (GRCm39)	M208K	probably damaging	Het
Vmn2r25	T	C	6: 123,799,982 (GRCm39)	T787A	possibly damaging	Het
Vps39	A	T	2: 120,169,814 (GRCm39)	I246N	probably benign	Het
Xab2	T	C	8: 3,660,162 (GRCm39)	D855G	probably damaging	Het
Xpc	A	G	6: 91,476,993 (GRCm39)	S369P	probably benign	Het
Ythdc2	T	A	18: 44,991,265 (GRCm39)	C758S	possibly damaging	Het
Zfp62	A	G	11: 49,107,099 (GRCm39)	I397V	possibly damaging	Het
Zscan4d	A	G	7: 10,896,435 (GRCm39)	S312P	probably benign	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
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
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'- CGTTCCATTGTGTGTAGACGC -3'
(R):5'- CTGCAGGAGCTATAATATTGGGAAATC -3'

Sequencing Primer
(F):5'- ATTTTACGACGTAGCCTAGGC -3'
(R):5'- GAGCTATAATATTGGGAAATCTTGGG -3'

Posted On

2015-09-24