Mutagenetix > Incidental Mutation

Incidental Mutation 'R3616:Efs'

268410

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

040673-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.127) question?

Stock #

R3616 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

55153992-55163583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 55157552 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Tyrosine to Cysteine at position 160 (Y160C)

Ref Sequence

ENSEMBL: ENSMUSP00000154657 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000227037] [ENSMUST00000227587]

AlphaFold

Q64355

Predicted Effect

probably damaging
Transcript: ENSMUST00000022813
AA Change: Y253C

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

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: Y253C

Domain	Start	End	E-Value	Type
SH3	8	67	5.15e-19	SMART
low complexity region	201	215	N/A	INTRINSIC
low complexity region	255	273	N/A	INTRINSIC
low complexity region	305	325	N/A	INTRINSIC
low complexity region	335	351	N/A	INTRINSIC
Pfam:DUF3513	370	555	9.2e-53	PFAM

Predicted Effect

probably damaging
Transcript: ENSMUST00000227037
AA Change: Y160C

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227587

Meta Mutation Damage Score

0.3969

Coding Region Coverage

1x: 99.2%
3x: 98.6%
10x: 97.4%
20x: 95.5%

Validation Efficiency

100% (29/29)

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The longest protein isoform encoded by this gene contains an SH3 domain, which is known to be important in intracellular signal transduction. The protein encoded by a similiar gene in mice was shown to bind to SH3 domains of protein-tyrosine kinases. The function of this gene is unknown. Three alternatively spliced variants encoding different isoforms have been described for this gene. [provided by RefSeq, Mar 2013]
PHENOTYPE: Mice homozygous for a disruption in this gene display an increased inflammatory response characterized by excessive T cell responses, enhanced cytokine secretion and antibody production, and intestinal, kidney, liver, and lung inflammation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 57 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A2ml1	T	C	6: 128,535,257 (GRCm39)	T818A	probably benign	Het
Aasdh	A	G	5: 77,036,629 (GRCm39)	V304A	probably benign	Het
Angptl3	G	A	4: 98,922,702 (GRCm39)	A248T	probably benign	Het
Ap2b1	T	A	11: 83,215,391 (GRCm39)	C112S	possibly damaging	Het
Aqr	A	T	2: 113,967,368 (GRCm39)	I549N	probably damaging	Het
Barhl1	C	T	2: 28,801,562 (GRCm39)	D161N	possibly damaging	Het
Col28a1	A	G	6: 8,014,942 (GRCm39)	V821A	probably damaging	Het
Dclk2	G	A	3: 86,827,342 (GRCm39)	P46S	probably damaging	Het
Dnah1	A	G	14: 31,037,105 (GRCm39)	L247P	possibly damaging	Het
Dpysl2	T	A	14: 67,071,819 (GRCm39)	H107L	probably damaging	Het
Dzip3	A	G	16: 48,757,426 (GRCm39)	L869S	probably damaging	Het
Enam	A	T	5: 88,652,306 (GRCm39)	N1197Y	possibly damaging	Het
Espl1	A	G	15: 102,221,424 (GRCm39)	I944V	probably damaging	Het
Fam184b	A	G	5: 45,740,157 (GRCm39)	V343A	possibly damaging	Het
Fbxw26	A	T	9: 109,572,828 (GRCm39)	Y105*	probably null	Het
Fiz1	A	G	7: 5,011,171 (GRCm39)	L449P	probably benign	Het
Foxi2	T	A	7: 135,012,180 (GRCm39)	C23S	possibly damaging	Het
Gdf2	G	A	14: 33,666,914 (GRCm39)	R212Q	probably damaging	Het
Gm5105	C	A	3: 137,755,449 (GRCm39)	A46S	unknown	Het
Grik5	C	T	7: 24,721,996 (GRCm39)	A581T	probably benign	Het
Gse1	C	G	8: 121,299,481 (GRCm39)		probably benign	Het
Hsp90aa1	T	A	12: 110,662,114 (GRCm39)	M1L	possibly damaging	Het
Hsp90aa1	C	A	12: 110,662,115 (GRCm39)		probably null	Het
Kif1b	A	T	4: 149,346,740 (GRCm39)		probably benign	Het
Krt25	A	C	11: 99,208,124 (GRCm39)	V368G	possibly damaging	Het
Lacc1	A	G	14: 77,270,727 (GRCm39)	V269A	probably benign	Het
Lamc1	T	C	1: 153,126,896 (GRCm39)	K417E	probably damaging	Het
Miip	A	G	4: 147,950,371 (GRCm39)	M75T	probably benign	Het
Nlrp10	A	G	7: 108,523,683 (GRCm39)	F599S	probably benign	Het
Nlrp12	T	A	7: 3,289,205 (GRCm39)	M436L	probably benign	Het
Or4b13	T	C	2: 90,082,753 (GRCm39)	E193G	possibly damaging	Het
Pafah1b1	G	A	11: 74,581,058 (GRCm39)	S57F	probably damaging	Het
Pard6b	T	C	2: 167,929,259 (GRCm39)		probably benign	Het
Pla2g2e	G	A	4: 138,607,685 (GRCm39)	V22I	probably benign	Het
Plekhd1	A	G	12: 80,764,044 (GRCm39)	E202G	probably damaging	Het
Prss21	A	G	17: 24,091,805 (GRCm39)	T258A	probably benign	Het
Prss34	A	G	17: 25,517,820 (GRCm39)	E65G	probably benign	Het
Psap	A	G	10: 60,130,383 (GRCm39)	N149S	probably benign	Het
Ptprf	C	T	4: 118,095,080 (GRCm39)	A275T	probably benign	Het
Sem1	A	G	6: 6,578,520 (GRCm39)	L12P	probably damaging	Het
Sf3b3	A	G	8: 111,571,155 (GRCm39)	Y4H	probably damaging	Het
Sh3bp4	G	T	1: 89,065,427 (GRCm39)	R7L	probably damaging	Het
Slc16a1	T	A	3: 104,560,886 (GRCm39)	L397Q	probably damaging	Het
Smg5	A	G	3: 88,243,758 (GRCm39)	S10G	possibly damaging	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het
Spata31e5	T	C	1: 28,815,656 (GRCm39)	D792G	probably benign	Het
Spata31g1	A	G	4: 42,971,864 (GRCm39)	N399S	probably benign	Het
Tas2r102	C	T	6: 132,739,781 (GRCm39)	Q230*	probably null	Het
Tdo2	A	G	3: 81,882,735 (GRCm39)	Y13H	possibly damaging	Het
Tmem231	C	T	8: 112,644,945 (GRCm39)	R187H	possibly damaging	Het
Tmem30b	A	G	12: 73,592,353 (GRCm39)	M254T	probably damaging	Het
Trpm1	G	A	7: 63,893,318 (GRCm39)	G1057R	probably damaging	Het
Tusc3	A	T	8: 39,617,879 (GRCm39)	K347N	probably damaging	Het
Usp36	C	T	11: 118,167,585 (GRCm39)		probably null	Het
Vash2	T	C	1: 190,702,616 (GRCm39)	Y117C	probably damaging	Het
Vrk2	A	G	11: 26,439,866 (GRCm39)	I235T	possibly damaging	Het
Wdr20	A	G	12: 110,760,373 (GRCm39)	T420A	probably benign	Het

Other mutations in Efs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Efs	APN	14	55,158,499 (GRCm39)	missense	probably damaging	1.00
IGL02720:Efs	APN	14	55,157,172 (GRCm39)	missense	probably damaging	1.00
IGL02752:Efs	APN	14	55,154,880 (GRCm39)	missense	probably damaging	0.96
R0129:Efs	UTSW	14	55,154,680 (GRCm39)	missense	probably damaging	1.00
R1522:Efs	UTSW	14	55,157,172 (GRCm39)	missense	probably damaging	1.00
R1927:Efs	UTSW	14	55,154,620 (GRCm39)	missense	possibly damaging	0.89
R2327:Efs	UTSW	14	55,154,961 (GRCm39)	missense	probably benign	0.01
R3431:Efs	UTSW	14	55,157,681 (GRCm39)	missense	probably damaging	1.00
R3432:Efs	UTSW	14	55,157,681 (GRCm39)	missense	probably damaging	1.00
R3615:Efs	UTSW	14	55,157,552 (GRCm39)	missense	probably damaging	1.00
R3756:Efs	UTSW	14	55,157,879 (GRCm39)	splice site	probably benign
R3945:Efs	UTSW	14	55,158,108 (GRCm39)	splice site	probably benign
R4448:Efs	UTSW	14	55,157,649 (GRCm39)	missense	probably damaging	1.00
R4717:Efs	UTSW	14	55,157,801 (GRCm39)	missense	probably damaging	0.99
R4819:Efs	UTSW	14	55,154,610 (GRCm39)	missense	probably damaging	0.98
R5656:Efs	UTSW	14	55,154,584 (GRCm39)	missense	probably damaging	1.00
R5946:Efs	UTSW	14	55,156,951 (GRCm39)	splice site	probably null
R6054:Efs	UTSW	14	55,158,614 (GRCm39)	missense	probably damaging	1.00
R7457:Efs	UTSW	14	55,157,451 (GRCm39)	missense	probably benign
R7822:Efs	UTSW	14	55,154,907 (GRCm39)	missense	probably benign	0.09
R7970:Efs	UTSW	14	55,157,960 (GRCm39)	critical splice donor site	probably null
R8166:Efs	UTSW	14	55,158,077 (GRCm39)	missense	probably damaging	1.00
R8347:Efs	UTSW	14	55,157,241 (GRCm39)	missense	probably benign	0.28
R8896:Efs	UTSW	14	55,157,756 (GRCm39)	missense	possibly damaging	0.80
R9438:Efs	UTSW	14	55,156,868 (GRCm39)	missense
R9703:Efs	UTSW	14	55,156,871 (GRCm39)	missense	possibly damaging	0.88
X0028:Efs	UTSW	14	55,158,078 (GRCm39)	nonsense	probably null
Z1176:Efs	UTSW	14	55,157,793 (GRCm39)	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- TGGATCATTGGCTACCTCCC -3'
(R):5'- TGATGTGCCTCCCAACATCC -3'

Sequencing Primer
(F):5'- GTTTGAGGCCCCCATAACCAG -3'
(R):5'- GAGGATGAAGCGCCCTAC -3'

Posted On

2015-02-19