Mutagenetix > Incidental Mutation

Incidental Mutation 'R3151:Echdc1'

264414

Institutional Source

Beutler Lab

Gene Symbol

Echdc1

Ensembl Gene

ENSMUSG00000019883

Gene Name

enoyl Coenzyme A hydratase domain containing 1

Synonyms

1700028A24Rik

MMRRC Submission

040603-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.143) question?

Stock #

R3151 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

29189162-29223465 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 29198360 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Alanine at position 102 (T102A)

Ref Sequence

ENSEMBL: ENSMUSP00000125553 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000020034] [ENSMUST00000160399] [ENSMUST00000161605]

AlphaFold

Q9D9V3

Predicted Effect

possibly damaging
Transcript: ENSMUST00000020034
AA Change: T125A

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000020034
Gene: ENSMUSG00000019883
AA Change: T125A

Domain	Start	End	E-Value	Type
Pfam:ECH_1	74	307	4.8e-39	PFAM
Pfam:ECH_2	79	321	4.5e-24	PFAM

Predicted Effect

possibly damaging
Transcript: ENSMUST00000160399
AA Change: T102A

PolyPhen 2 Score 0.792 (Sensitivity: 0.85; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000125553
Gene: ENSMUSG00000019883
AA Change: T102A

Domain	Start	End	E-Value	Type
Pfam:ECH	49	293	1.6e-42	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000161426

Predicted Effect

probably benign
Transcript: ENSMUST00000161605
AA Change: T102A

PolyPhen 2 Score 0.018 (Sensitivity: 0.95; Specificity: 0.80)

SMART Domains

Protein: ENSMUSP00000125048
Gene: ENSMUSG00000019883
AA Change: T102A

Domain	Start	End	E-Value	Type
Pfam:ECH	49	165	4.4e-24	PFAM

Meta Mutation Damage Score

0.1520

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.3%
20x: 95.0%

Validation Efficiency

98% (61/62)

Allele List at MGI

Other mutations in this stock

Total: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam5	A	G	8: 25,271,647 (GRCm39)	Y587H	probably damaging	Het
Ahnak	T	C	19: 8,987,308 (GRCm39)	V2864A	probably benign	Het
Ano2	G	A	6: 125,990,280 (GRCm39)		probably null	Het
Arl5c	A	G	11: 97,883,159 (GRCm39)	I147T	probably damaging	Het
Asap2	T	A	12: 21,274,378 (GRCm39)	F369I	probably damaging	Het
Atg4a-ps	A	G	3: 103,553,228 (GRCm39)	F38L	probably benign	Het
B230217C12Rik	TGTGTCG	TG	11: 97,733,014 (GRCm39)		probably null	Het
Cacna1s	A	T	1: 136,033,532 (GRCm39)	Y1003F	probably damaging	Het
Ccdc178	A	T	18: 21,944,618 (GRCm39)	M847K	probably benign	Het
Clca4b	T	C	3: 144,621,272 (GRCm39)	K601E	probably benign	Het
Cnih4	A	G	1: 180,981,292 (GRCm39)		probably benign	Het
Cnpy3	A	T	17: 47,058,452 (GRCm39)	V57E	probably damaging	Het
Creb3l1	T	A	2: 91,832,378 (GRCm39)	E48V	probably damaging	Het
Dus3l	T	A	17: 57,075,899 (GRCm39)	F482I	probably benign	Het
Dync1i2	A	G	2: 71,064,060 (GRCm39)		probably benign	Het
Elf1	G	A	14: 79,804,755 (GRCm39)		probably null	Het
Elp1	T	C	4: 56,770,985 (GRCm39)	Y986C	probably benign	Het
Ep400	G	T	5: 110,851,435 (GRCm39)	T1349N	unknown	Het
Eps15	T	A	4: 109,223,419 (GRCm39)	D458E	probably benign	Het
F2rl2	G	A	13: 95,837,638 (GRCm39)	V228I	probably benign	Het
Fads3	T	G	19: 10,035,262 (GRCm39)	S438A	probably benign	Het
Fcgbp	T	A	7: 27,816,665 (GRCm39)	C2376S	probably damaging	Het
Fndc3b	A	G	3: 27,473,652 (GRCm39)	S1138P	possibly damaging	Het
Ggt5	T	C	10: 75,445,076 (GRCm39)	I361T	probably benign	Het
Gpr158	C	T	2: 21,581,771 (GRCm39)	R417W	possibly damaging	Het
Gria1	A	G	11: 57,174,388 (GRCm39)	I626V	probably damaging	Het
Gys2	T	C	6: 142,402,059 (GRCm39)	E260G	probably benign	Het
Ido2	T	A	8: 25,023,776 (GRCm39)	Y354F	possibly damaging	Het
Igkv6-23	A	G	6: 70,237,543 (GRCm39)	L66P	probably benign	Het
Kremen1	T	C	11: 5,145,012 (GRCm39)	K455E	probably damaging	Het
Krtap19-9b	T	C	16: 88,729,096 (GRCm39)	S2G	unknown	Het
Magea1	A	T	X: 153,872,093 (GRCm39)	M211K	probably benign	Het
Mtx2	G	A	2: 74,677,634 (GRCm39)		probably null	Het
Nlrp14	G	A	7: 106,781,759 (GRCm39)	V319I	probably benign	Het
Nphs1	A	T	7: 30,159,665 (GRCm39)	T33S	probably benign	Het
Or12j2	A	T	7: 139,916,243 (GRCm39)	H156L	probably benign	Het
Or2t6	T	A	14: 14,175,203 (GRCm38)	N293I	probably damaging	Het
Or3a1c	A	T	11: 74,046,466 (GRCm39)	H162L	probably damaging	Het
P2rx7	A	G	5: 122,819,329 (GRCm39)	T584A	probably benign	Het
Pclo	A	G	5: 14,571,692 (GRCm39)	Q359R	probably damaging	Het
Phtf2	T	C	5: 20,970,802 (GRCm39)	E147G	probably damaging	Het
Ptges2	G	A	2: 32,286,488 (GRCm39)	A68T	probably benign	Het
Rab33b	A	T	3: 51,401,069 (GRCm39)	N181I	possibly damaging	Het
Rnf213	A	T	11: 119,359,718 (GRCm39)	R4370S	probably benign	Het
Rpf1	G	A	3: 146,213,390 (GRCm39)	R254W	probably damaging	Het
Serpinb7	A	T	1: 107,363,081 (GRCm39)	R82*	probably null	Het
Setbp1	A	G	18: 78,900,650 (GRCm39)	S1006P	probably damaging	Het
Spata31d1a	T	C	13: 59,849,180 (GRCm39)	S983G	probably benign	Het
Ssr2	T	C	3: 88,487,323 (GRCm39)	I46T	probably damaging	Het
Ssx2ip	G	A	3: 146,124,138 (GRCm39)	G51D	probably benign	Het
Synj1	A	T	16: 90,757,514 (GRCm39)	L878H	probably damaging	Het
Th	G	A	7: 142,447,812 (GRCm39)	Q329*	probably null	Het
Tln2	C	T	9: 67,237,829 (GRCm39)		probably null	Het
Trio	A	G	15: 27,805,862 (GRCm39)	L542P	probably damaging	Het
Trp53bp2	A	G	1: 182,256,525 (GRCm39)	T32A	probably damaging	Het
Vmn1r40	A	T	6: 89,691,548 (GRCm39)	T122S	probably benign	Het
Vmn2r121	C	T	X: 123,040,849 (GRCm39)	C494Y	probably benign	Het
Vmn2r51	A	T	7: 9,833,968 (GRCm39)	Y357N	probably damaging	Het
Vmn2r55	G	T	7: 12,404,634 (GRCm39)	S256R	probably benign	Het
Vps8	A	G	16: 21,261,123 (GRCm39)	T88A	probably benign	Het
Zfp977	A	C	7: 42,229,870 (GRCm39)	N218K	probably benign	Het

Other mutations in Echdc1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00818:Echdc1	APN	10	29,193,616 (GRCm39)	missense	probably benign	0.01
IGL03106:Echdc1	APN	10	29,198,276 (GRCm39)	missense	probably damaging	1.00
IGL03185:Echdc1	APN	10	29,207,836 (GRCm39)	missense	possibly damaging	0.91
R0016:Echdc1	UTSW	10	29,198,417 (GRCm39)	splice site	probably benign
R0016:Echdc1	UTSW	10	29,198,417 (GRCm39)	splice site	probably benign
R1325:Echdc1	UTSW	10	29,193,544 (GRCm39)	missense	probably benign	0.05
R1850:Echdc1	UTSW	10	29,220,599 (GRCm39)	missense	probably damaging	1.00
R4540:Echdc1	UTSW	10	29,220,578 (GRCm39)	missense	probably benign	0.00
R5310:Echdc1	UTSW	10	29,210,204 (GRCm39)	missense	possibly damaging	0.87
R6356:Echdc1	UTSW	10	29,220,522 (GRCm39)	splice site	probably null
R6569:Echdc1	UTSW	10	29,198,280 (GRCm39)	missense	probably damaging	1.00
R6606:Echdc1	UTSW	10	29,189,711 (GRCm39)	missense	probably benign
R8439:Echdc1	UTSW	10	29,210,242 (GRCm39)	missense	probably damaging	1.00
R9007:Echdc1	UTSW	10	29,220,426 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- TAAAGTATCTGTCTTCGCACTCTTG -3'
(R):5'- AGTTATCTCAGCATGCCAACC -3'

Sequencing Primer
(F):5'- TTGCTTAGCACTTTACTGTATCTG -3'
(R):5'- TGCCTTTTATAGATACCCTGTAGG -3'

Posted On

2015-02-05