Mutagenetix > Incidental Mutation

Incidental Mutation 'R1051:Eefsec'

93945

Institutional Source

Beutler Lab

Gene Symbol

Eefsec

Ensembl Gene

ENSMUSG00000033216

Gene Name

eukaryotic elongation factor, selenocysteine-tRNA-specific

Synonyms

MMRRC Submission

039141-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R1051 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

88234318-88423489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88274829 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glutamic Acid at position 378 (D378E)

Ref Sequence

ENSEMBL: ENSMUSP00000144839 (fasta)

Gene Model

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

AlphaFold

Q9JHW4

Predicted Effect

probably benign
Transcript: ENSMUST00000165242
AA Change: D378E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: D378E

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 benign
Transcript: ENSMUST00000203213

SMART Domains

Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216

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

Predicted Effect

probably benign
Transcript: ENSMUST00000203886

SMART Domains

Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216

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 benign
Transcript: ENSMUST00000204459

SMART Domains

Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216

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 benign
Transcript: ENSMUST00000205179
AA Change: D378E

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)

SMART Domains

Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: D378E

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

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.0%
20x: 94.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 54 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acad10	A	G	5: 121,764,143 (GRCm39)	S929P	probably damaging	Het
Acot1	T	C	12: 84,056,378 (GRCm39)	V32A	probably damaging	Het
Ank1	G	A	8: 23,583,956 (GRCm39)	G353D	probably damaging	Het
Baiap2l1	T	A	5: 144,222,943 (GRCm39)	H97L	probably damaging	Het
Casp8ap2	C	A	4: 32,640,790 (GRCm39)	P615T	probably benign	Het
Chrng	A	T	1: 87,136,785 (GRCm39)	D218V	possibly damaging	Het
Col5a3	C	A	9: 20,686,531 (GRCm39)	V1365L	unknown	Het
Ddx49	A	G	8: 70,747,335 (GRCm39)		probably null	Het
Dnaaf2	T	C	12: 69,244,569 (GRCm39)	D164G	probably damaging	Het
Farsb	T	C	1: 78,420,287 (GRCm39)	I535V	possibly damaging	Het
Fat1	T	G	8: 45,497,543 (GRCm39)	S4343A	probably damaging	Het
Fbn2	T	C	18: 58,145,425 (GRCm39)	Y2737C	probably damaging	Het
Gtf3c1	T	C	7: 125,306,821 (GRCm39)	E10G	probably damaging	Het
Has1	T	C	17: 18,068,541 (GRCm39)	D271G	probably damaging	Het
Hsh2d	G	A	8: 72,954,304 (GRCm39)	D229N	probably benign	Het
Il12rb2	A	G	6: 67,333,719 (GRCm39)	F187L	probably benign	Het
Kdsr	G	A	1: 106,675,310 (GRCm39)	Q109*	probably null	Het
Klb	G	A	5: 65,536,670 (GRCm39)	A667T	probably damaging	Het
Krba1	C	T	6: 48,390,332 (GRCm39)	R704C	possibly damaging	Het
Lenep	A	T	3: 89,309,780 (GRCm39)	I56N	possibly damaging	Het
Lipc	T	C	9: 70,709,398 (GRCm39)	I450V	probably benign	Het
Myh6	T	C	14: 55,186,984 (GRCm39)	N1329S	probably benign	Het
Myo5c	T	A	9: 75,198,165 (GRCm39)	M1330K	probably benign	Het
Myo9b	A	G	8: 71,808,466 (GRCm39)	E1691G	probably damaging	Het
Ninl	C	G	2: 150,812,046 (GRCm39)	E240Q	probably damaging	Het
Nlgn1	T	C	3: 25,966,869 (GRCm39)	S195G	probably damaging	Het
Nlrp4c	A	G	7: 6,068,942 (GRCm39)	E281G	probably benign	Het
Olfm2	T	C	9: 20,579,759 (GRCm39)	T331A	probably damaging	Het
Or1o1	A	T	17: 37,717,341 (GRCm39)	I301F	possibly damaging	Het
Or2d2	T	A	7: 106,728,123 (GRCm39)	D159V	possibly damaging	Het
Or8b9	T	C	9: 37,766,657 (GRCm39)	I181T	probably damaging	Het
Plekhh2	T	C	17: 84,829,255 (GRCm39)		probably null	Het
Pramel4	A	G	4: 143,795,068 (GRCm39)	E485G	possibly damaging	Het
Prss12	A	G	3: 123,279,174 (GRCm39)	D417G	probably null	Het
Rhpn1	A	T	15: 75,584,241 (GRCm39)	Y456F	probably damaging	Het
Rnpc3	C	T	3: 113,423,595 (GRCm39)	E37K	possibly damaging	Het
Rp1l1	T	G	14: 64,269,984 (GRCm39)	L1857V	probably damaging	Het
Sdk2	C	T	11: 113,729,472 (GRCm39)		silent	Het
Sepsecs	C	T	5: 52,822,698 (GRCm39)	A18T	probably damaging	Het
Sgms1	T	A	19: 32,137,439 (GRCm39)	L42F	probably damaging	Het
Sipa1l1	A	T	12: 82,496,119 (GRCm39)	D1720V	possibly damaging	Het
Slc13a3	A	T	2: 165,250,740 (GRCm39)		probably null	Het
Slc25a40	A	T	5: 8,480,450 (GRCm39)	M67L	probably benign	Het
Slc35e1	T	C	8: 73,246,415 (GRCm39)		probably benign	Het
Spesp1	T	C	9: 62,179,924 (GRCm39)	D328G	possibly damaging	Het
Sspo	T	A	6: 48,468,389 (GRCm39)	C4363*	probably null	Het
Tbc1d8	C	T	1: 39,420,534 (GRCm39)	W666*	probably null	Het
Tubgcp2	T	C	7: 139,578,809 (GRCm39)	D721G	probably benign	Het
Vps54	CTTAAT	CT	11: 21,228,001 (GRCm39)		probably null	Het
Wsb1	T	C	11: 79,137,059 (GRCm39)	S113G	probably damaging	Het
Zfp382	T	C	7: 29,833,435 (GRCm39)	F362S	probably damaging	Het
Zfp553	G	T	7: 126,835,977 (GRCm39)	G511*	probably null	Het
Zfp568	C	T	7: 29,721,954 (GRCm39)	Q299*	probably null	Het
Zfp688	G	A	7: 127,018,397 (GRCm39)	P243S	probably damaging	Het

Other mutations in Eefsec

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00742:Eefsec	APN	6	88,353,261 (GRCm39)	missense	possibly damaging	0.82
IGL02055:Eefsec	APN	6	88,353,385 (GRCm39)	missense	probably damaging	1.00
IGL03068:Eefsec	APN	6	88,235,209 (GRCm39)	missense	probably benign	0.00
IGL03235:Eefsec	APN	6	88,353,357 (GRCm39)	missense	probably damaging	1.00
R0137:Eefsec	UTSW	6	88,274,631 (GRCm39)	missense	probably benign	0.17
R0384:Eefsec	UTSW	6	88,258,632 (GRCm39)	splice site	probably null
R0456:Eefsec	UTSW	6	88,274,870 (GRCm39)	missense	probably benign	0.01
R0571:Eefsec	UTSW	6	88,274,881 (GRCm39)	missense	probably benign	0.00
R1464:Eefsec	UTSW	6	88,353,182 (GRCm39)	splice site	probably benign
R1552:Eefsec	UTSW	6	88,353,182 (GRCm39)	splice site	probably benign
R1739:Eefsec	UTSW	6	88,353,187 (GRCm39)	nonsense	probably null
R2887:Eefsec	UTSW	6	88,235,341 (GRCm39)	missense	probably benign	0.01
R3944:Eefsec	UTSW	6	88,275,076 (GRCm39)	missense	probably benign	0.04
R4027:Eefsec	UTSW	6	88,353,232 (GRCm39)	missense	probably benign	0.22
R5113:Eefsec	UTSW	6	88,258,557 (GRCm39)	missense	probably damaging	1.00
R5924:Eefsec	UTSW	6	88,332,529 (GRCm39)	missense	probably damaging	0.99
R6062:Eefsec	UTSW	6	88,332,611 (GRCm39)	missense	probably benign	0.04
R6233:Eefsec	UTSW	6	88,335,526 (GRCm39)	critical splice donor site	probably null
R6484:Eefsec	UTSW	6	88,274,770 (GRCm39)	missense	probably damaging	0.99
R6524:Eefsec	UTSW	6	88,274,902 (GRCm39)	splice site	probably null
R6903:Eefsec	UTSW	6	88,423,265 (GRCm39)	missense	probably benign	0.45
R7614:Eefsec	UTSW	6	88,258,576 (GRCm39)	missense	possibly damaging	0.64
R7733:Eefsec	UTSW	6	88,353,202 (GRCm39)	missense	possibly damaging	0.80
R8110:Eefsec	UTSW	6	88,353,312 (GRCm39)	missense	probably damaging	1.00
R8850:Eefsec	UTSW	6	88,423,253 (GRCm39)	missense	possibly damaging	0.73
R9251:Eefsec	UTSW	6	88,332,574 (GRCm39)	missense	probably damaging	0.96
R9453:Eefsec	UTSW	6	88,353,337 (GRCm39)	missense	probably damaging	1.00
R9618:Eefsec	UTSW	6	88,274,681 (GRCm39)	missense	probably benign	0.00

Predicted Primers

PCR Primer
(F):5'- GCTTGTGCTTCAGCTTGTAAACCC -3'
(R):5'- AAGATCCCTTACTTCCGAGGACCC -3'

Sequencing Primer
(F):5'- GCAGGAAGCTCTCAATGTAGTTC -3'
(R):5'- TGCAGACCAAGGCCAAGTTC -3'

Posted On

2014-01-05