Mutagenetix > Incidental Mutation

Incidental Mutation 'R9703:Efs'

729681

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

Accession Numbers

Essential gene?

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

Stock #

R9703 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55153992-55163583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 55156871 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Valine to Glutamic Acid at position 388 (V388E)

Ref Sequence

ENSEMBL: ENSMUSP00000022813 (fasta)

Gene Model

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

AlphaFold

Q64355

Predicted Effect

possibly damaging
Transcript: ENSMUST00000022813
AA Change: V388E

PolyPhen 2 Score 0.878 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: V388E

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

possibly damaging
Transcript: ENSMUST00000227037
AA Change: V295E

PolyPhen 2 Score 0.764 (Sensitivity: 0.85; Specificity: 0.92)

Predicted Effect

probably benign
Transcript: ENSMUST00000227587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.3%
20x: 98.2%

Validation Efficiency

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: 51 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam20	T	A	8: 41,248,971 (GRCm39)	N360K	probably damaging	Het
Aoc1l2	A	G	6: 48,909,629 (GRCm39)	T625A	probably benign	Het
Apob	T	A	12: 8,030,507 (GRCm39)	L82Q	probably damaging	Het
Arhgap30	T	G	1: 171,235,339 (GRCm39)	L571R	probably damaging	Het
Atg9a	C	T	1: 75,162,431 (GRCm39)	C493Y	probably damaging	Het
Brip1	T	C	11: 85,952,830 (GRCm39)	T984A	possibly damaging	Het
Btbd9	A	G	17: 30,749,200 (GRCm39)	V38A	possibly damaging	Het
Crocc2	C	A	1: 93,130,444 (GRCm39)	D908E	probably benign	Het
Crybg3	C	G	16: 59,375,939 (GRCm39)	A58P	probably damaging	Het
Cts7	T	C	13: 61,504,350 (GRCm39)	N71S	probably damaging	Het
Ddx46	A	G	13: 55,824,635 (GRCm39)	Y962C	probably damaging	Het
Dock10	G	A	1: 80,517,540 (GRCm39)	R1373C	probably damaging	Het
Dock9	A	T	14: 121,781,989 (GRCm39)	*2043R	probably null	Het
Esyt1	C	T	10: 128,354,796 (GRCm39)		probably null	Het
Extl3	G	T	14: 65,292,103 (GRCm39)	R907S	probably damaging	Het
Fcgbp	G	A	7: 27,806,400 (GRCm39)	V2123M	probably damaging	Het
Gas2l3	C	T	10: 89,249,943 (GRCm39)	A392T	probably benign	Het
Golm1	A	T	13: 59,797,433 (GRCm39)	D137E	probably benign	Het
Grxcr2	T	C	18: 42,124,988 (GRCm39)	D140G	possibly damaging	Het
H2ac19	G	A	3: 96,147,557 (GRCm39)	R4C	probably benign	Het
Hrh1	G	A	6: 114,457,979 (GRCm39)	C420Y	probably benign	Het
Ints13	A	T	6: 146,459,063 (GRCm39)	L316Q	probably damaging	Het
Iws1	T	A	18: 32,212,738 (GRCm39)	D55E	probably damaging	Het
Kcnrg	CACAACAA	CACAA	14: 61,845,009 (GRCm39)		probably benign	Het
Klrc2	G	C	6: 129,633,407 (GRCm39)	S215*	probably null	Het
Muc5b	A	G	7: 141,425,535 (GRCm39)	T4727A	possibly damaging	Het
Nsd3	T	C	8: 26,131,228 (GRCm39)	S198P	probably benign	Het
Or2n1b	A	T	17: 38,459,856 (GRCm39)	I126F	possibly damaging	Het
Or6c214	A	T	10: 129,591,286 (GRCm39)	I11N	possibly damaging	Het
Ovch2	T	A	7: 107,383,777 (GRCm39)	I523F	probably damaging	Het
Pals1	T	A	12: 78,843,850 (GRCm39)	I18K	probably benign	Het
Pcdhb1	T	A	18: 37,399,019 (GRCm39)	D323E	probably damaging	Het
Pfkl	T	A	10: 77,826,142 (GRCm39)		probably null	Het
Pigc	T	A	1: 161,798,176 (GRCm39)	F53I	probably benign	Het
Pramel29	T	A	4: 143,939,510 (GRCm39)	D9V	probably damaging	Het
Prph2	G	A	17: 47,234,447 (GRCm39)	A339T	unknown	Het
Prrc2a	T	C	17: 35,378,320 (GRCm39)	K452E	unknown	Het
Rab36	T	C	10: 74,886,474 (GRCm39)	W151R	possibly damaging	Het
Sdk1	A	G	5: 142,100,283 (GRCm39)	T1438A	possibly damaging	Het
Slc25a17	A	T	15: 81,224,193 (GRCm39)	I55K	probably damaging	Het
Smg1	A	T	7: 117,739,744 (GRCm39)	I3401N	possibly damaging	Het
Smpd3	T	A	8: 106,991,713 (GRCm39)	H280L	probably damaging	Het
Srsf10	A	G	4: 135,591,153 (GRCm39)	H202R	probably benign	Het
Swap70	C	T	7: 109,872,512 (GRCm39)	R376C	probably damaging	Het
Syde1	G	T	10: 78,421,557 (GRCm39)	L665M	probably damaging	Het
Tha1	A	G	11: 117,761,863 (GRCm39)	V126A	probably damaging	Het
Tln2	T	C	9: 67,293,938 (GRCm39)	H230R	probably damaging	Het
Tnc	G	A	4: 63,889,412 (GRCm39)	A1698V	probably benign	Het
Twist2	C	A	1: 91,729,744 (GRCm39)	S132R	probably damaging	Het
Ubr1	C	T	2: 120,732,092 (GRCm39)	C1170Y	probably damaging	Het
Vwa1	G	A	4: 155,857,336 (GRCm39)	P154L	probably damaging	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
R3616: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
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'- ATGTATTTAGTCCTGCCCGC -3'
(R):5'- TAGCTTGGGACTCCAGCACTAG -3'

Sequencing Primer
(F):5'- CCCTGTCTCACCGATGGC -3'
(R):5'- TAGCCCACACCACTTGAGTG -3'

Posted On

2022-10-06