Mutagenetix > Incidental Mutation

Incidental Mutation 'R2327:Efs'

245725

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

040318-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.102) question?

Stock #

R2327 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

54916535-54926126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54917504 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Valine to Alanine at position 426 (V426A)

Ref Sequence

ENSEMBL: ENSMUSP00000022813 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000022813] [ENSMUST00000050772] [ENSMUST00000227037] [ENSMUST00000227587] [ENSMUST00000227880] [ENSMUST00000228119] [ENSMUST00000228495] [ENSMUST00000228588] [ENSMUST00000231305]

AlphaFold

Q64355

Predicted Effect

probably benign
Transcript: ENSMUST00000022813
AA Change: V426A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: V426A

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 benign
Transcript: ENSMUST00000050772

SMART Domains

Protein: ENSMUSP00000049676
Gene: ENSMUSG00000022199

Domain	Start	End	E-Value	Type
Pfam:Sugar_tr	1	370	1.8e-17	PFAM
Pfam:MFS_1	211	394	1.1e-11	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000226467

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000226718

Predicted Effect

probably benign
Transcript: ENSMUST00000227037
AA Change: V333A

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

Predicted Effect

probably benign
Transcript: ENSMUST00000227587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227600

Predicted Effect

probably benign
Transcript: ENSMUST00000227880

Predicted Effect

probably benign
Transcript: ENSMUST00000228119

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228249

Predicted Effect

probably benign
Transcript: ENSMUST00000228495

Predicted Effect

probably benign
Transcript: ENSMUST00000228588

Predicted Effect

probably benign
Transcript: ENSMUST00000231305

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.2%
20x: 94.7%

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: 71 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930578I06Rik	A	T	14: 63,971,120		probably null	Het
Agbl4	T	G	4: 111,526,601	S218A	probably benign	Het
Apol11b	T	C	15: 77,637,953	E48G	probably damaging	Het
Atp4a	T	A	7: 30,720,241	N676K	probably benign	Het
Capn5	T	A	7: 98,126,367	S456C	probably benign	Het
Ccar1	T	C	10: 62,764,382	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,219,206	G283W	probably damaging	Het
Cd163l1	A	T	7: 140,223,977	N363Y	possibly damaging	Het
Cd69	A	G	6: 129,271,388	V45A	probably damaging	Het
Col3a1	G	T	1: 45,338,611		probably benign	Het
Cyb561a3	A	T	19: 10,586,802	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,538,953	I248L	probably benign	Het
Cyp2j13	T	C	4: 96,059,107	T236A	possibly damaging	Het
Eme2	A	G	17: 24,894,183	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,705,528	K312*	probably null	Het
Fbxl12	A	G	9: 20,642,234	L19P	probably damaging	Het
Flg2	T	A	3: 93,203,606	Y980*	probably null	Het
Fscn2	T	A	11: 120,366,701	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,735,087	V242A	probably benign	Het
Galk2	A	G	2: 125,975,395	H368R	probably damaging	Het
Gm10184	C	A	17: 89,910,269	R16S	probably benign	Het
Gm12695	C	T	4: 96,769,656	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,098,591	S196T	probably benign	Het
Gpld1	A	T	13: 24,984,821	M773L	probably benign	Het
Haus8	A	G	8: 71,255,645		probably null	Het
Hirip3	A	G	7: 126,862,866	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,366,166	T92A	probably damaging	Het
Irgm2	A	G	11: 58,220,392	D303G	probably damaging	Het
Krtap5-2	T	G	7: 142,175,011	S311R	unknown	Het
Krtdap	T	A	7: 30,789,760		probably null	Het
Lce1g	G	T	3: 92,750,833	S56Y	unknown	Het
Lrrn1	G	A	6: 107,568,833	V531I	probably benign	Het
Mctp2	T	C	7: 72,211,610	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,464,045	D287A	probably damaging	Het
Mterf3	T	C	13: 66,928,194	T150A	probably damaging	Het
Mtus2	A	G	5: 148,077,915	N506S	probably benign	Het
Myh15	G	T	16: 49,142,950	V1085L	probably benign	Het
Myo9a	A	G	9: 59,779,765	N51S	probably benign	Het
Nlrc3	A	T	16: 3,953,440	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,375,322	N816I	probably damaging	Het
Nsun2	T	C	13: 69,619,581	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,313,677	E339G	possibly damaging	Het
Olfr1062	A	T	2: 86,422,821	L285*	probably null	Het
Olfr1338	C	T	4: 118,754,134	V135I	probably benign	Het
Olfr623	A	G	7: 103,660,572	V226A	probably damaging	Het
Pik3ap1	A	G	19: 41,296,389	I619T	probably damaging	Het
Plk1	A	G	7: 122,159,895	D118G	probably benign	Het
Ppat	T	C	5: 76,922,467	D168G	possibly damaging	Het
Preb	T	C	5: 30,958,505	E198G	probably damaging	Het
Psg21	T	C	7: 18,652,453	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,598,131	V54A	probably damaging	Het
Rgma	T	A	7: 73,417,826	D276E	probably damaging	Het
Ric8a	T	C	7: 140,859,558	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,110,324		probably benign	Het
Scarf1	A	C	11: 75,526,028	E765D	probably damaging	Het
Sec14l4	G	A	11: 4,040,041	M113I	probably benign	Het
Senp1	C	T	15: 98,082,284	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,951,304	K549N	probably benign	Het
Slc39a10	T	C	1: 46,835,996	S49G	probably damaging	Het
Spata13	T	C	14: 60,709,555	M684T	probably damaging	Het
Spns1	T	C	7: 126,370,786	T481A	probably damaging	Het
Stag1	A	G	9: 100,786,613	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833	V210E	probably damaging	Het
Tnc	C	T	4: 63,975,238	E1604K	possibly damaging	Het
Tspan31	T	C	10: 127,068,496	D143G	probably benign	Het
Tspan5	T	A	3: 138,898,142	Y131*	probably null	Het
Ttc21a	A	G	9: 119,966,123	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,039,749	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,738,256	I700T	probably damaging	Het
Vps13c	A	C	9: 67,913,820	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,403,358	P2859S	probably benign	Het

Other mutations in Efs

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL02176:Efs	APN	14	54921042	missense	probably damaging	1.00
IGL02720:Efs	APN	14	54919715	missense	probably damaging	1.00
IGL02752:Efs	APN	14	54917423	missense	probably damaging	0.96
R0129:Efs	UTSW	14	54917223	missense	probably damaging	1.00
R1522:Efs	UTSW	14	54919715	missense	probably damaging	1.00
R1927:Efs	UTSW	14	54917163	missense	possibly damaging	0.89
R3431:Efs	UTSW	14	54920224	missense	probably damaging	1.00
R3432:Efs	UTSW	14	54920224	missense	probably damaging	1.00
R3615:Efs	UTSW	14	54920095	missense	probably damaging	1.00
R3616:Efs	UTSW	14	54920095	missense	probably damaging	1.00
R3756:Efs	UTSW	14	54920422	splice site	probably benign
R3945:Efs	UTSW	14	54920651	splice site	probably benign
R4448:Efs	UTSW	14	54920192	missense	probably damaging	1.00
R4717:Efs	UTSW	14	54920344	missense	probably damaging	0.99
R4819:Efs	UTSW	14	54917153	missense	probably damaging	0.98
R5656:Efs	UTSW	14	54917127	missense	probably damaging	1.00
R5946:Efs	UTSW	14	54919494	splice site	probably null
R6054:Efs	UTSW	14	54921157	missense	probably damaging	1.00
R7457:Efs	UTSW	14	54919994	missense	probably benign
R7822:Efs	UTSW	14	54917450	missense	probably benign	0.09
R7970:Efs	UTSW	14	54920503	critical splice donor site	probably null
R8166:Efs	UTSW	14	54920620	missense	probably damaging	1.00
R8347:Efs	UTSW	14	54919784	missense	probably benign	0.28
R8896:Efs	UTSW	14	54920299	missense	possibly damaging	0.80
R9438:Efs	UTSW	14	54919411	missense
R9703:Efs	UTSW	14	54919414	missense	possibly damaging	0.88
X0028:Efs	UTSW	14	54920621	nonsense	probably null
Z1176:Efs	UTSW	14	54920336	missense	probably benign

Predicted Primers

PCR Primer
(F):5'- CTAGGGTGTCTCCAACAAACAC -3'
(R):5'- GAATCAGCTCTGGGCACTTTAC -3'

Sequencing Primer
(F):5'- GTGTCTCCAACAAACACCAGGC -3'
(R):5'- AGCTCTGGGCACTTTACTGCTG -3'

Posted On

2014-10-30