Mutagenetix > Incidental Mutation

Incidental Mutation 'R8739:Eef1ece2'

682575

Institutional Source

Beutler Lab

Gene Symbol

Eef1ece2

Ensembl Gene

ENSMUSG00000115293

Gene Name

Eef1akmt4-endothelin converting enzyme 2 readthrough

Synonyms

Gm49333

MMRRC Submission

068586-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.094) question?

Stock #

R8739 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

20430360-20464670 bp(+) (GRCm39)

Type of Mutation

splice site

DNA Base Change (assembly)

G to A at 20449665 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Ref Sequence

ENSEMBL: ENSMUSP00000119693 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000003898] [ENSMUST00000079600] [ENSMUST00000120394] [ENSMUST00000122306] [ENSMUST00000133344]

AlphaFold

P0DPD9

Predicted Effect

probably benign
Transcript: ENSMUST00000003898

SMART Domains

Protein: ENSMUSP00000003898
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Pfam:Peptidase_M13_N	115	500	8.3e-125	PFAM
Pfam:Peptidase_M13	559	762	1.1e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000079600

SMART Domains

Protein: ENSMUSP00000078550
Gene: ENSMUSG00000115293

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_11	63	158	8.5e-8	PFAM
transmembrane domain	179	201	N/A	INTRINSIC
Pfam:Peptidase_M13_N	233	618	1.2e-124	PFAM
Pfam:Peptidase_M13	677	880	1.4e-66	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000120394

SMART Domains

Protein: ENSMUSP00000113475
Gene: ENSMUSG00000115293

Domain	Start	End	E-Value	Type
Pfam:Methyltransf_18	58	163	1.2e-8	PFAM
Pfam:Methyltransf_11	63	163	1.7e-9	PFAM
transmembrane domain	208	230	N/A	INTRINSIC
Pfam:Peptidase_M13_N	262	647	5e-109	PFAM
Pfam:Peptidase_M13	706	909	9.4e-75	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000122306

SMART Domains

Protein: ENSMUSP00000114039
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
transmembrane domain	61	83	N/A	INTRINSIC
Pfam:Peptidase_M13_N	115	500	6.9e-125	PFAM
Pfam:Peptidase_M13	559	709	6e-50	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000125971

SMART Domains

Protein: ENSMUSP00000120239
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
Pfam:Peptidase_M13_N	1	261	1.3e-71	PFAM
Pfam:Peptidase_M13	320	482	3.4e-58	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000133344

SMART Domains

Protein: ENSMUSP00000119693
Gene: ENSMUSG00000022842

Domain	Start	End	E-Value	Type
transmembrane domain	32	54	N/A	INTRINSIC
Pfam:Peptidase_M13_N	86	471	7.5e-125	PFAM
Pfam:Peptidase_M13	530	733	1e-66	PFAM

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.9%
20x: 99.6%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 60 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam24	T	C	8: 41,133,480 (GRCm39)	V316A	possibly damaging	Het
Adamts9	T	C	6: 92,831,261 (GRCm39)	E1364G	probably benign	Het
Agrn	C	T	4: 156,257,045 (GRCm39)	R1233Q	probably benign	Het
Ankrd6	A	G	4: 32,806,337 (GRCm39)	S639P	possibly damaging	Het
Arid5a	A	G	1: 36,358,677 (GRCm39)	N418S	probably benign	Het
Cep152	T	C	2: 125,461,975 (GRCm39)	E69G	probably benign	Het
Chrnb2	A	G	3: 89,669,746 (GRCm39)	S109P	probably damaging	Het
Chuk	A	G	19: 44,077,135 (GRCm39)	S404P	probably benign	Het
Clec4a3	T	C	6: 122,944,508 (GRCm39)	Y185H	probably damaging	Het
Dctd	T	A	8: 48,591,883 (GRCm39)	L149H	probably benign	Het
Dgkb	T	A	12: 38,278,323 (GRCm39)		probably benign	Het
Dhrs13	G	C	11: 77,923,492 (GRCm39)	R70P	possibly damaging	Het
Dnah5	G	A	15: 28,346,006 (GRCm39)	A2449T	probably benign	Het
Dync1h1	T	C	12: 110,581,014 (GRCm39)	V247A	probably damaging	Het
Espnl	T	A	1: 91,272,317 (GRCm39)	L559Q	probably damaging	Het
Gak	A	G	5: 108,739,604 (GRCm39)	V627A	possibly damaging	Het
Gcnt1	A	T	19: 17,307,437 (GRCm39)	M96K	probably benign	Het
Ggta1	T	C	2: 35,292,572 (GRCm39)	D245G	probably damaging	Het
Hfm1	A	T	5: 107,046,371 (GRCm39)	F505Y	probably damaging	Het
Inpp4a	A	G	1: 37,422,207 (GRCm39)		probably benign	Het
Kcnj14	C	G	7: 45,468,812 (GRCm39)	R231P	probably damaging	Het
Lamc2	A	T	1: 153,020,399 (GRCm39)	C382*	probably null	Het
Marveld3	T	C	8: 110,688,609 (GRCm39)	E44G	possibly damaging	Het
Mettl17	T	C	14: 52,128,848 (GRCm39)	F373L	possibly damaging	Het
Morc3	T	A	16: 93,657,398 (GRCm39)	L374Q	probably damaging	Het
Muc16	C	T	9: 18,548,594 (GRCm39)	D5900N	probably benign	Het
Myo15a	A	G	11: 60,368,088 (GRCm39)	N283D	probably benign	Het
Ncapg2	T	G	12: 116,379,098 (GRCm39)	D197E	possibly damaging	Het
Nipbl	T	C	15: 8,332,904 (GRCm39)	T2240A	probably benign	Het
Nrip1	A	C	16: 76,088,236 (GRCm39)	V1107G	possibly damaging	Het
Or13a19	T	C	7: 139,902,647 (GRCm39)	F12L	probably damaging	Het
Or4d5	G	A	9: 40,012,636 (GRCm39)	T50I	probably benign	Het
Or4f52	C	A	2: 111,061,834 (GRCm39)	M101I	probably benign	Het
Pcdhb11	T	A	18: 37,555,549 (GRCm39)	I293K	probably damaging	Het
Pcsk5	G	T	19: 17,432,138 (GRCm39)	H1492Q	probably benign	Het
Pdcd4	T	A	19: 53,899,405 (GRCm39)	Y131*	probably null	Het
Pdf	T	A	8: 107,773,796 (GRCm39)	M216L	probably damaging	Het
Pira13	A	T	7: 3,828,188 (GRCm39)	S40T		Het
Plch1	T	C	3: 63,778,106 (GRCm39)	H17R	possibly damaging	Het
Prkdc	T	G	16: 15,626,068 (GRCm39)	S3365A	probably benign	Het
Rab3c	T	C	13: 110,397,135 (GRCm39)	T44A	probably damaging	Het
Rad17	T	C	13: 100,765,998 (GRCm39)	T377A	probably benign	Het
Rftn1	G	T	17: 50,354,408 (GRCm39)	A318D	probably damaging	Het
Rnf215	T	G	11: 4,085,959 (GRCm39)		probably null	Het
Sec31b	G	A	19: 44,507,620 (GRCm39)	T808I	probably benign	Het
Selenbp1	A	T	3: 94,844,601 (GRCm39)	D86V	probably damaging	Het
Smurf2	G	T	11: 106,743,322 (GRCm39)	Y241*	probably null	Het
Spint1	T	C	2: 119,079,286 (GRCm39)	V456A	possibly damaging	Het
Spmap2	G	T	10: 79,419,581 (GRCm39)	N240K	possibly damaging	Het
Stx5a	A	T	19: 8,725,924 (GRCm39)	I175F	probably damaging	Het
Tenm4	C	T	7: 96,555,148 (GRCm39)	P2618S	probably benign	Het
Tfb1m	T	C	17: 3,569,927 (GRCm39)	E313G	probably benign	Het
Thrb	A	G	14: 17,963,082 (GRCm38)	D15G	probably benign	Het
Tln2	T	C	9: 67,165,555 (GRCm39)	K1045R	probably damaging	Het
Tmx2	T	C	2: 84,505,745 (GRCm39)		probably benign	Het
Trabd	T	C	15: 88,969,152 (GRCm39)	I192T	probably damaging	Het
Try5	T	A	6: 41,288,637 (GRCm39)	D194V	probably damaging	Het
Ttc21a	A	G	9: 119,796,371 (GRCm39)	N1263S	probably benign	Het
Ttll13	T	C	7: 79,902,923 (GRCm39)	I197T	probably damaging	Het
Virma	T	C	4: 11,540,643 (GRCm39)		probably null	Het

Other mutations in Eef1ece2

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R6744:Eef1ece2	UTSW	16	20,449,116 (GRCm39)	missense	probably damaging	1.00
R7286:Eef1ece2	UTSW	16	20,451,341 (GRCm39)	missense	probably benign	0.06
R7569:Eef1ece2	UTSW	16	20,461,237 (GRCm39)	nonsense	probably null
R7672:Eef1ece2	UTSW	16	20,457,417 (GRCm39)	missense	probably damaging	1.00
R7748:Eef1ece2	UTSW	16	20,451,834 (GRCm39)	missense	probably damaging	0.99
R7853:Eef1ece2	UTSW	16	20,463,010 (GRCm39)	critical splice donor site	probably null
R7920:Eef1ece2	UTSW	16	20,456,442 (GRCm39)	missense	possibly damaging	0.95
R8014:Eef1ece2	UTSW	16	20,461,067 (GRCm39)	missense	probably benign
R9031:Eef1ece2	UTSW	16	20,459,375 (GRCm39)	missense	probably damaging	0.99

Predicted Primers

PCR Primer
(F):5'- GTCCTTGCGATGCAACTCAATTG -3'
(R):5'- CGAATGCAGGCTTCTGTGAC -3'

Sequencing Primer
(F):5'- AATTGCGCCTGTCCTGTG -3'
(R):5'- TCTGTGGCAAGAGACATGGC -3'

Posted On

2021-10-07