Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03068:Eefsec'

409794

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Eefsec

Ensembl Gene

ENSMUSG00000033216

Gene Name

eukaryotic elongation factor, selenocysteine-tRNA-specific

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.907) question?

Stock #

IGL03068

Quality Score

Status

Chromosome

Chromosomal Location

88234318-88423489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to T at 88235209 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Lysine at position 576 (Q576K)

Ref Sequence

ENSEMBL: ENSMUSP00000131207 (fasta)

Gene Model

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

AlphaFold

Q9JHW4

Predicted Effect

probably benign
Transcript: ENSMUST00000165242
AA Change: Q576K

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: Q576K

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: ENSMUST00000203827

Predicted Effect

probably benign
Transcript: ENSMUST00000205179

SMART Domains

Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216

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

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 45 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ago3	A	G	4: 126,311,171 (GRCm39)	L14P	probably damaging	Het
Ak2	G	T	4: 128,901,819 (GRCm39)		probably benign	Het
Appbp2	T	C	11: 85,092,246 (GRCm39)	Y311C	probably damaging	Het
Arl9	C	A	5: 77,155,225 (GRCm39)	L119I	possibly damaging	Het
Atp1a1	T	C	3: 101,491,175 (GRCm39)	H620R	probably benign	Het
Cfap52	T	C	11: 67,826,682 (GRCm39)	D381G	probably benign	Het
Cngb3	T	C	4: 19,375,246 (GRCm39)	F292S	possibly damaging	Het
Comtd1	G	A	14: 21,897,711 (GRCm39)	R203C	probably damaging	Het
Crmp1	G	T	5: 37,422,633 (GRCm39)	A147S	possibly damaging	Het
Csmd3	T	A	15: 47,710,517 (GRCm39)	H1586L	possibly damaging	Het
Ctnna1	G	A	18: 35,382,785 (GRCm39)	E644K	possibly damaging	Het
Dock3	T	C	9: 106,841,958 (GRCm39)	D957G	possibly damaging	Het
Ear1	G	T	14: 44,056,502 (GRCm39)	S122*	probably null	Het
Efcab5	T	A	11: 76,994,927 (GRCm39)	I1215L	probably benign	Het
Etfa	A	T	9: 55,394,766 (GRCm39)	D160E	probably benign	Het
Exoc7	G	A	11: 116,191,960 (GRCm39)	R197C	possibly damaging	Het
G6pc1	A	G	11: 101,261,576 (GRCm39)	D92G	probably benign	Het
Gm3182	T	A	14: 4,483,921 (GRCm38)		probably null	Het
Gm4952	A	G	19: 12,601,068 (GRCm39)	N96S	probably damaging	Het
Gpr156	G	A	16: 37,812,491 (GRCm39)	V276M	probably damaging	Het
Irs2	A	G	8: 11,054,974 (GRCm39)	S1153P	probably damaging	Het
Kif21b	T	C	1: 136,086,093 (GRCm39)		probably benign	Het
Lmo7	A	T	14: 102,112,928 (GRCm39)		probably benign	Het
Mapk4	G	T	18: 74,103,415 (GRCm39)	N31K	probably damaging	Het
Mccc2	T	C	13: 100,100,319 (GRCm39)	T357A	probably damaging	Het
Mpeg1	A	G	19: 12,439,570 (GRCm39)	T343A	probably benign	Het
Myo3b	G	T	2: 70,257,160 (GRCm39)		probably benign	Het
Pald1	T	C	10: 61,156,963 (GRCm39)	E829G	possibly damaging	Het
Pde11a	A	G	2: 75,848,208 (GRCm39)	I873T	probably damaging	Het
Samd9l	T	A	6: 3,375,348 (GRCm39)	K638*	probably null	Het
Sema4d	A	G	13: 51,862,922 (GRCm39)	S479P	probably damaging	Het
Slc12a2	T	C	18: 58,037,407 (GRCm39)		probably benign	Het
Slc47a2	T	C	11: 61,194,769 (GRCm39)	N470S	probably damaging	Het
Spag17	C	T	3: 99,987,521 (GRCm39)	P1604S	probably benign	Het
Taf8	C	A	17: 47,812,290 (GRCm39)	V39L	probably damaging	Het
Tlr11	A	G	14: 50,598,941 (GRCm39)	E309G	probably benign	Het
Tmem260	A	G	14: 48,724,371 (GRCm39)		probably benign	Het
Tsc1	A	T	2: 28,571,270 (GRCm39)	K816M	probably damaging	Het
Ttc29	A	G	8: 79,052,180 (GRCm39)	I354V	probably benign	Het
Ttll3	A	T	6: 113,386,158 (GRCm39)	N665Y	probably damaging	Het
Ubr4	A	G	4: 139,137,041 (GRCm39)	T971A	probably benign	Het
Vmn2r96	T	A	17: 18,803,137 (GRCm39)	I349N	probably benign	Het
Vwa5a	A	G	9: 38,646,143 (GRCm39)	T504A	probably benign	Het
Ythdf3	T	A	3: 16,258,882 (GRCm39)	V354E	possibly damaging	Het
Zan	C	A	5: 137,474,677 (GRCm39)	G13V	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
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
R1051:Eefsec	UTSW	6	88,274,829 (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

Posted On

2016-08-02