Mutagenetix > Incidental Mutations

Incidental Mutation 'R8110:Eefsec'

630802

Institutional Source

Beutler Lab

Gene Symbol

Eefsec

Ensembl Gene

ENSMUSG00000033216

Gene Name

eukaryotic elongation factor, selenocysteine-tRNA-specific

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.895) question?

Stock #

R8110 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88257334-88446539 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 88376330 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Serine at position 119 (I119S)

Ref Sequence

ENSEMBL: ENSMUSP00000131207 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000165242] [ENSMUST00000203213] [ENSMUST00000203886] [ENSMUST00000204459] [ENSMUST00000205014] [ENSMUST00000205179]

AlphaFold

Q9JHW4

Predicted Effect

probably damaging
Transcript: ENSMUST00000165242
AA Change: I119S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: I119S

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	284	1.7e-27	PFAM
Pfam:SRPRB	6	161	9e-7	PFAM
Pfam:MMR_HSR1	9	133	6.2e-6	PFAM
Pfam:GTP_EFTU_D2	224	290	4.7e-9	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203213
AA Change: I21S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
AA Change: I21S

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	1	157	1.4e-6	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000203886
AA Change: I21S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216
AA Change: I21S

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	1	205	1e-6	PFAM
Pfam:GTP_EFTU_D2	126	192	1e-7	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000204459
AA Change: I119S

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: I119S

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	203	1.5e-26	PFAM
Pfam:SRPRB	6	161	1.8e-5	PFAM
Pfam:MMR_HSR1	9	133	2.4e-5	PFAM
Pfam:cobW	74	161	1.3e-4	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000205014

SMART Domains

Protein: ENSMUSP00000145448
Gene: ENSMUSG00000033216

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	93	2.4e-11	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000205179
AA Change: I119S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: I119S

Domain	Start	End	E-Value	Type
Pfam:GTP_EFTU	5	285	6e-26	PFAM
Pfam:SRPRB	6	161	8e-5	PFAM
Pfam:MMR_HSR1	9	133	1e-4	PFAM
Pfam:GTP_EFTU_D2	224	290	3.3e-7	PFAM

Meta Mutation Damage Score

0.9598

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.6%
20x: 93.1%

Validation Efficiency

99% (73/74)

Allele List at MGI

Other mutations in this stock

Total: 68 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
0610010F05Rik	G	T	11: 23,576,764	T696N	probably benign	Het
Ankrd45	T	C	1: 161,151,319		probably null	Het
Appl1	C	A	14: 26,927,794	G592*	probably null	Het
Arfgef2	T	A	2: 166,878,544	M1501K	probably benign	Het
Calcrl	C	T	2: 84,339,339	A333T	probably damaging	Het
Cd200r3	T	A	16: 44,951,472	I33N	probably benign	Het
Ceacam15	A	G	7: 16,673,409	L61P	probably benign	Het
Cfap69	T	A	5: 5,582,515	H827L	possibly damaging	Het
Csmd3	T	A	15: 47,644,270	E2780V	probably damaging	Het
Cyp2u1	G	A	3: 131,293,654	T426I	probably damaging	Het
Fem1b	T	C	9: 62,796,268	N570S	probably damaging	Het
Fmo9	A	G	1: 166,663,526	M461T	probably benign	Het
Fryl	A	G	5: 73,133,277	Y95H	probably benign	Het
Fsip2	T	C	2: 82,958,673	I346T	probably benign	Het
Fto	T	C	8: 91,485,190	F381S	probably damaging	Het
Gabbr1	G	C	17: 37,048,583	S150T	probably benign	Het
Galnt9	G	T	5: 110,615,473	W448L	probably damaging	Het
Gcnt2	G	T	13: 40,917,722		probably benign	Het
Gm10800	CAAGAAAACTGAAAATCAAAGAAAACTGAAAATCA	CAAGAAAACTGAAAATCA	2: 98,667,016		probably null	Het
Gm17727	T	C	9: 35,778,033	*84W	probably null	Het
Gm8882	C	T	6: 132,361,568	G229D	unknown	Het
Gmcl1	G	T	6: 86,721,426	A163E	probably damaging	Het
Hectd4	A	G	5: 121,332,949	Y2633C	possibly damaging	Het
Hsd11b2	A	G	8: 105,522,634	I214V	probably damaging	Het
Hspa12a	T	A	19: 58,821,013	E217V	possibly damaging	Het
Itih2	A	G	2: 10,097,137	F845L	probably damaging	Het
Kcnn3	T	A	3: 89,661,233	L606H	probably damaging	Het
Krt6b	G	A	15: 101,680,142	R28C	probably damaging	Het
Lama2	T	A	10: 26,990,870	D2876V	probably damaging	Het
Lmbrd2	T	C	15: 9,175,192	S397P	probably damaging	Het
Lmf2	C	T	15: 89,352,358		probably null	Het
Lrp2	A	G	2: 69,506,453	I1325T	probably benign	Het
Ltbp2	A	T	12: 84,803,902	C879*	probably null	Het
Map3k1	A	G	13: 111,755,313	V1136A	probably damaging	Het
Mettl3	G	T	14: 52,300,252	H84N	probably benign	Het
Mia2	A	G	12: 59,109,087		probably null	Het
Mlip	G	T	9: 77,239,579	T92K	probably damaging	Het
Nalcn	T	A	14: 123,464,701	Y466F	probably benign	Het
Nav2	T	A	7: 49,551,950	L235*	probably null	Het
Nbn	T	C	4: 15,981,588	V560A	probably benign	Het
Ncln	A	T	10: 81,493,153	Y144N	possibly damaging	Het
Nfe2l2	A	C	2: 75,679,421	D18E	probably benign	Het
Olfr102	A	G	17: 37,313,713	F224L	probably benign	Het
Olfr1131	T	C	2: 87,628,607	I48T	possibly damaging	Het
Olfr356	T	C	2: 36,937,709	C197R	possibly damaging	Het
Olfr432	G	A	1: 174,050,525	A51T	probably benign	Het
Otop3	A	T	11: 115,339,395	M33L	probably benign	Het
Pdzd2	G	A	15: 12,373,506	S2181L	probably benign	Het
Phf14	T	C	6: 11,953,423	I387T	possibly damaging	Het
Prdm9	T	A	17: 15,554,698	N318Y	probably damaging	Het
Proca1	A	G	11: 78,204,911	D123G	probably damaging	Het
Prune2	G	A	19: 17,120,719	G1196S	probably benign	Het
Psd3	T	A	8: 68,121,056	S158C	probably damaging	Het
Rps18	A	G	17: 33,955,136	V15A	probably benign	Het
Sharpin	C	A	15: 76,347,765	R271L	possibly damaging	Het
Smad5	C	A	13: 56,723,888	Q99K	probably damaging	Het
Sox5	T	C	6: 144,116,474	M151V	possibly damaging	Het
Sphkap	A	T	1: 83,278,771	F419Y	possibly damaging	Het
Tbx20	T	A	9: 24,725,525	Y422F	probably damaging	Het
Tcirg1	A	C	19: 3,899,099	F397V	probably damaging	Het
Tex36	G	A	7: 133,595,283	S35F	possibly damaging	Het
Tsen54	G	T	11: 115,814,934	A26S	unknown	Het
Usp50	T	A	2: 126,780,330		probably null	Het
Vmn2r5	A	T	3: 64,491,288	F757I	probably benign	Het
Zbbx	T	C	3: 75,155,442	T3A	possibly damaging	Het
Zfp28	T	A	7: 6,389,829	M168K	probably benign	Het
Zfp568	G	T	7: 30,023,126	G499W	probably damaging	Het
Zfp7	C	G	15: 76,890,931	P391R	possibly damaging	Het

Other mutations in Eefsec

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Eefsec	APN	6	88376279	missense	possibly damaging	0.82
IGL02055:Eefsec	APN	6	88376403	missense	probably damaging	1.00
IGL03068:Eefsec	APN	6	88258227	missense	probably benign	0.00
IGL03235:Eefsec	APN	6	88376375	missense	probably damaging	1.00
R0137:Eefsec	UTSW	6	88297649	missense	probably benign	0.17
R0384:Eefsec	UTSW	6	88281650	splice site	probably null
R0456:Eefsec	UTSW	6	88297888	missense	probably benign	0.01
R0571:Eefsec	UTSW	6	88297899	missense	probably benign	0.00
R1051:Eefsec	UTSW	6	88297847	missense	probably benign	0.00
R1464:Eefsec	UTSW	6	88376200	splice site	probably benign
R1552:Eefsec	UTSW	6	88376200	splice site	probably benign
R1739:Eefsec	UTSW	6	88376205	nonsense	probably null
R2887:Eefsec	UTSW	6	88258359	missense	probably benign	0.01
R3944:Eefsec	UTSW	6	88298094	missense	probably benign	0.04
R4027:Eefsec	UTSW	6	88376250	missense	probably benign	0.22
R5113:Eefsec	UTSW	6	88281575	missense	probably damaging	1.00
R5924:Eefsec	UTSW	6	88355547	missense	probably damaging	0.99
R6062:Eefsec	UTSW	6	88355629	missense	probably benign	0.04
R6233:Eefsec	UTSW	6	88358544	critical splice donor site	probably null
R6484:Eefsec	UTSW	6	88297788	missense	probably damaging	0.99
R6524:Eefsec	UTSW	6	88297920	splice site	probably null
R6903:Eefsec	UTSW	6	88446283	missense	probably benign	0.45
R7614:Eefsec	UTSW	6	88281594	missense	possibly damaging	0.64
R7733:Eefsec	UTSW	6	88376220	missense	possibly damaging	0.80
R8850:Eefsec	UTSW	6	88446271	missense	possibly damaging	0.73
R9251:Eefsec	UTSW	6	88355592	missense	probably damaging	0.96

Predicted Primers

PCR Primer
(F):5'- ACTCCACTTACCAGGATGGGAG -3'
(R):5'- AGGAAGTATCAGCCATTCCTCC -3'

Sequencing Primer
(F):5'- CTTACCAGGATGGGAGGCTGAC -3'
(R):5'- GAAGTATCAGCCATTCCTCCCCATC -3'

Posted On

2020-06-30