Mutagenetix > Incidental Mutation

Incidental Mutation 'R9251:Eefsec'

701547

Institutional Source

Beutler Lab

Gene Symbol

Eefsec

Ensembl Gene

ENSMUSG00000033216

Gene Name

eukaryotic elongation factor, selenocysteine-tRNA-specific

Synonyms

Accession Numbers

Essential gene?

Probably essential (E-score: 0.908) question?

Stock #

R9251 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

88234318-88423489 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 88332574 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Lysine at position 212 (M212K)

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: M212K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000131207
Gene: ENSMUSG00000033216
AA Change: M212K

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: M114K

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

SMART Domains

Protein: ENSMUSP00000145480
Gene: ENSMUSG00000033216
AA Change: M114K

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

Predicted Effect

probably damaging
Transcript: ENSMUST00000203886
AA Change: M114K

PolyPhen 2 Score 0.957 (Sensitivity: 0.78; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000145017
Gene: ENSMUSG00000033216
AA Change: M114K

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

possibly damaging
Transcript: ENSMUST00000204459
AA Change: M212K

PolyPhen 2 Score 0.535 (Sensitivity: 0.88; Specificity: 0.90)

SMART Domains

Protein: ENSMUSP00000144824
Gene: ENSMUSG00000033216
AA Change: M212K

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: M212K

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000144839
Gene: ENSMUSG00000033216
AA Change: M212K

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

0.8560

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.8%
20x: 99.3%

Validation Efficiency

100% (59/59)

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Arhgap31	G	T	16: 38,423,218 (GRCm39)	N949K	probably benign	Het
Arv1	T	A	8: 125,452,062 (GRCm39)	I76N	probably damaging	Het
Cfap44	G	A	16: 44,229,276 (GRCm39)	A189T	probably damaging	Het
Ch25h	T	C	19: 34,451,769 (GRCm39)	Y253C	probably damaging	Het
Cnot11	T	C	1: 39,581,587 (GRCm39)	M376T	probably damaging	Het
Cnot7	T	C	8: 40,964,622 (GRCm39)		probably benign	Het
Dnah17	G	A	11: 118,012,618 (GRCm39)	S481F	probably benign	Het
Dnah2	C	T	11: 69,406,619 (GRCm39)	R541Q	probably damaging	Het
Dnah7a	C	T	1: 53,621,671 (GRCm39)	M1151I	probably damaging	Het
Dpf2	T	C	19: 5,957,166 (GRCm39)	D19G	probably damaging	Het
Elp6	G	A	9: 110,134,666 (GRCm39)	V12I	unknown	Het
Enox1	G	A	14: 77,852,997 (GRCm39)		probably null	Het
Epha1	G	T	6: 42,341,777 (GRCm39)	N424K	probably damaging	Het
Fam171a1	T	C	2: 3,226,525 (GRCm39)	S553P	probably benign	Het
Fbxw21	A	G	9: 108,974,687 (GRCm39)	S278P	probably damaging	Het
Gm45861	T	C	8: 28,032,589 (GRCm39)		probably null	Het
Gm4846	T	A	1: 166,311,307 (GRCm39)	R517S	probably benign	Het
Gnrhr	A	G	5: 86,345,221 (GRCm39)	L155P	possibly damaging	Het
Igfn1	C	T	1: 135,894,409 (GRCm39)		probably benign	Het
Ik	T	A	18: 36,880,495 (GRCm39)		probably null	Het
Insrr	A	T	3: 87,717,391 (GRCm39)	Q763L	probably benign	Het
Klf5	G	T	14: 99,538,824 (GRCm39)	C79F	possibly damaging	Het
Lrrcc1	A	T	3: 14,623,454 (GRCm39)	R760S	probably damaging	Het
Map3k7	T	A	4: 32,002,080 (GRCm39)		probably benign	Het
Mapkbp1	C	T	2: 119,853,671 (GRCm39)	A1159V	probably benign	Het
Mgst3	C	T	1: 167,205,860 (GRCm39)		probably null	Het
Mtch2	T	A	2: 90,679,980 (GRCm39)	F71I	probably damaging	Het
Myo1e	A	G	9: 70,276,076 (GRCm39)	I764V	probably benign	Het
Myo3b	T	A	2: 70,088,425 (GRCm39)	L896*	probably null	Het
Ndufs5	T	G	4: 123,606,628 (GRCm39)	E103A	probably benign	Het
Nfe2l1	G	A	11: 96,710,421 (GRCm39)	P603S	probably damaging	Het
Or6c211	T	A	10: 129,505,980 (GRCm39)	N136I	possibly damaging	Het
Or8g34	A	T	9: 39,373,668 (GRCm39)	M311L	probably benign	Het
Piezo1	T	C	8: 123,219,354 (GRCm39)	N1093S		Het
Pitpnb	G	A	5: 111,533,390 (GRCm39)	R258H	probably benign	Het
Pla2g4d	T	C	2: 120,099,378 (GRCm39)	E708G	possibly damaging	Het
Plppr4	T	A	3: 117,115,608 (GRCm39)	T750S	probably benign	Het
Prrg4	T	G	2: 104,675,399 (GRCm39)	E68A	probably damaging	Het
Rcan2	C	T	17: 44,328,701 (GRCm39)	T90M	possibly damaging	Het
Rlbp1	T	C	7: 79,027,093 (GRCm39)	E189G	probably damaging	Het
Satb1	A	G	17: 52,112,293 (GRCm39)	F107S	probably damaging	Het
Sdc3	A	T	4: 130,548,513 (GRCm39)		probably benign	Het
Slc22a3	A	T	17: 12,726,093 (GRCm39)	V40D	probably damaging	Het
Slc35d1	A	G	4: 103,048,027 (GRCm39)		probably null	Het
Slfn1	T	C	11: 83,012,121 (GRCm39)	F79S	probably damaging	Het
Snrpg	G	T	6: 86,353,557 (GRCm39)	V46L	probably benign	Het
Tbl1xr1	G	A	3: 22,264,569 (GRCm39)	C508Y	probably benign	Het
Thada	A	T	17: 84,538,564 (GRCm39)	D1481E	probably benign	Het
Tnfsf8	A	G	4: 63,779,217 (GRCm39)	V27A	probably benign	Het
Tns1	T	C	1: 74,030,855 (GRCm39)	H300R	probably damaging	Het
Ttc13	C	A	8: 125,401,992 (GRCm39)	G589V	probably benign	Het
Ttc28	A	G	5: 111,040,698 (GRCm39)	I29V	possibly damaging	Het
Tubb4a	T	A	17: 57,387,778 (GRCm39)	N416I	possibly damaging	Het
Ubr4	T	A	4: 139,177,636 (GRCm39)	I1884N		Het
Usp16	A	G	16: 87,266,640 (GRCm39)	K175E	probably benign	Het
Usp24	A	G	4: 106,217,715 (GRCm39)	I479M	probably benign	Het
Utrn	T	C	10: 12,512,531 (GRCm39)	T2313A	probably benign	Het
Ythdc2	T	C	18: 44,974,442 (GRCm39)	V368A	probably benign	Het
Zfp628	T	C	7: 4,923,880 (GRCm39)	S701P	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
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
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'- TCATTAGACTCTGTTGCCCTGAAG -3'
(R):5'- AGGTCCCTCTTCTCACTGAG -3'

Sequencing Primer
(F):5'- TCTGTTGCCCTGAAGACCAAG -3'
(R):5'- CTCACTGAGTTAAGTTGCAGC -3'

Posted On

2022-03-25