Mutagenetix > Incidental Mutation

Incidental Mutation 'R6484:Eefsec'

517255

Institutional Source

Beutler Lab

Gene Symbol

Eefsec

Ensembl Gene

ENSMUSG00000033216

Gene Name

eukaryotic elongation factor, selenocysteine-tRNA-specific

Synonyms

MMRRC Submission

044616-MU

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R6484 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88234318-88423489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to G at 88274770 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tryptophan to Serine at position 398 (W398S)

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: W398S

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)

SMART Domains

Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: W398S

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

possibly damaging
Transcript: ENSMUST00000205179
AA Change: W398S

PolyPhen 2 Score 0.946 (Sensitivity: 0.80; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: W398S

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

0.9443

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 97.8%
20x: 92.7%

Validation Efficiency

100% (60/60)

Allele List at MGI

Other mutations in this stock

Total: 58 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abce1	A	T	8: 80,416,952 (GRCm39)	M353K	probably damaging	Het
Adgre4	G	A	17: 56,109,036 (GRCm39)	V348M	possibly damaging	Het
Alg8	T	C	7: 97,032,135 (GRCm39)	V228A	probably benign	Het
Bltp2	T	C	11: 78,169,921 (GRCm39)	V1548A	probably damaging	Het
Btbd8	T	C	5: 107,651,451 (GRCm39)	S115P	probably benign	Het
Car8	A	G	4: 8,189,362 (GRCm39)	F151L	probably benign	Het
CN725425	A	G	15: 91,144,775 (GRCm39)	Q546R	probably benign	Het
Col17a1	C	T	19: 47,658,868 (GRCm39)	V414M	possibly damaging	Het
Col6a3	C	A	1: 90,719,645 (GRCm39)		probably null	Het
Cyp51	G	A	5: 4,136,627 (GRCm39)	T389M	probably benign	Het
Cyren	G	A	6: 34,851,551 (GRCm39)	S101L	probably damaging	Het
Dazap1	A	G	10: 80,113,481 (GRCm39)	T126A	probably benign	Het
Dscc1	T	A	15: 54,943,686 (GRCm39)	K395*	probably null	Het
Dthd1	A	G	5: 62,971,675 (GRCm39)	N166S	probably benign	Het
Enpep	T	A	3: 129,115,130 (GRCm39)	H214L	probably damaging	Het
Esf1	T	C	2: 140,000,458 (GRCm39)	I443V	probably benign	Het
Espl1	T	C	15: 102,231,935 (GRCm39)	V1984A	possibly damaging	Het
Hip1	A	G	5: 135,468,983 (GRCm39)	S280P	probably damaging	Het
Il12rb1	C	T	8: 71,262,348 (GRCm39)		probably null	Het
Itgax	T	A	7: 127,732,890 (GRCm39)	C255S	probably benign	Het
Kifc5b	T	C	17: 27,143,746 (GRCm39)	V506A	probably damaging	Het
Klf3	A	G	5: 64,980,372 (GRCm39)	E54G	probably damaging	Het
Lrig3	A	G	10: 125,832,478 (GRCm39)		probably null	Het
Mctp1	A	G	13: 76,836,744 (GRCm39)	I104V	probably benign	Het
Mdga2	T	C	12: 66,676,843 (GRCm39)	E552G	possibly damaging	Het
Mpc1	A	G	17: 8,515,788 (GRCm39)	E160G	possibly damaging	Het
Myh10	T	A	11: 68,590,293 (GRCm39)	I76N	probably damaging	Het
Myh7b	A	T	2: 155,470,563 (GRCm39)	I1032F	probably benign	Het
Olfml2a	G	A	2: 38,849,780 (GRCm39)	V499I	probably damaging	Het
Or2h1	T	A	17: 37,404,158 (GRCm39)	I203F	probably benign	Het
Or4f58	A	T	2: 111,851,764 (GRCm39)	L145*	probably null	Het
Or5b105	A	G	19: 13,080,431 (GRCm39)	V79A	probably benign	Het
P2ry12	A	G	3: 59,124,754 (GRCm39)	L307P	probably damaging	Het
Pappa	C	A	4: 65,232,896 (GRCm39)	A1345D	probably damaging	Het
Phox2b	A	G	5: 67,255,044 (GRCm39)	I135T	possibly damaging	Het
Poln	C	T	5: 34,286,857 (GRCm39)	A104T	probably benign	Het
Prkce	A	G	17: 86,798,237 (GRCm39)	D342G	probably benign	Het
Ptchd3	T	A	11: 121,733,764 (GRCm39)	F885I	possibly damaging	Het
Rcbtb2	A	T	14: 73,414,490 (GRCm39)	S434C	probably damaging	Het
Rfc1	A	G	5: 65,451,020 (GRCm39)	V356A	probably benign	Het
Rln1	A	G	19: 29,311,902 (GRCm39)	F32S	probably benign	Het
Ryr2	A	G	13: 11,677,269 (GRCm39)	L3194P	possibly damaging	Het
Sat2	T	C	11: 69,513,353 (GRCm39)	V34A	probably damaging	Het
Scgb3a2	T	C	18: 43,899,784 (GRCm39)	I24T	possibly damaging	Het
Slc35e2	T	G	4: 155,697,104 (GRCm39)	V206G	probably damaging	Het
Slit3	A	T	11: 35,552,125 (GRCm39)	M890L	probably benign	Het
Sorl1	A	G	9: 41,887,703 (GRCm39)	L2042P	probably damaging	Het
Ssbp1	T	A	6: 40,451,600 (GRCm39)	V9E	probably damaging	Het
Tbc1d23	C	T	16: 56,998,379 (GRCm39)	V520M	probably damaging	Het
Thumpd2	T	C	17: 81,361,617 (GRCm39)	E203G	probably benign	Het
Tlr11	A	G	14: 50,600,135 (GRCm39)	D707G	probably damaging	Het
Tlr12	T	A	4: 128,509,847 (GRCm39)	D801V	probably damaging	Het
Tnrc6b	T	G	15: 80,763,525 (GRCm39)	N342K	possibly damaging	Het
Vmn1r191	A	C	13: 22,362,918 (GRCm39)	F279V	probably benign	Het
Vmn2r13	A	T	5: 109,304,540 (GRCm39)	C630*	probably null	Het
Zbtb1	C	T	12: 76,432,665 (GRCm39)	T217I	probably damaging	Het
Zfp385b	ATCTTCTTCTTCT	ATCTTCTTCTTCTTCT	2: 77,549,992 (GRCm39)		probably benign	Het
Zzef1	C	T	11: 72,786,097 (GRCm39)	P2090S	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
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
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'- AACCCAAGGGCTGTGCTTAC -3'
(R):5'- CTGACAGCTTTGACTTGGAGC -3'

Sequencing Primer
(F):5'- AGCTTGTAAACCCTCAGTGCTGG -3'
(R):5'- CTTTGACTTGGAGCCCGTGC -3'

Posted On

2018-05-21