Mutagenetix > Incidental Mutation

Incidental Mutation 'R1927:Efs'

214986

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

039945-MU

Accession Numbers

Essential gene?

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

Stock #

R1927 (G1)

Quality Score

167

Status

Not validated

Chromosome

Chromosomal Location

54916535-54926126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 54917163 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Serine at position 540 (C540S)

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

possibly damaging
Transcript: ENSMUST00000022813
AA Change: C540S

PolyPhen 2 Score 0.889 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: C540S

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: C447S

PolyPhen 2 Score 0.265 (Sensitivity: 0.91; Specificity: 0.88)

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: 97.5%
3x: 96.9%
10x: 95.3%
20x: 92.5%

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
A2m	T	C	6: 121,636,379	S31P	probably damaging	Het
Abca12	G	T	1: 71,244,840	H2524Q	probably damaging	Het
Acsl5	T	C	19: 55,278,154	V135A	probably benign	Het
Actl11	T	G	9: 107,929,537	L353R	possibly damaging	Het
Adcy6	G	T	15: 98,598,498		probably null	Het
B230104I21Rik	A	G	4: 154,341,237	I697T	probably damaging	Het
BC061237	G	A	14: 44,501,243	R33K	possibly damaging	Het
Brf1	C	A	12: 113,000,344	V5F	possibly damaging	Het
Chmp2a	C	T	7: 13,033,936	A21T	possibly damaging	Het
Cwh43	A	G	5: 73,453,074	N607S	probably benign	Het
Ddhd2	G	A	8: 25,741,661	L445F	possibly damaging	Het
Dicer1	C	A	12: 104,702,884	D1180Y	possibly damaging	Het
Dock5	A	T	14: 67,846,062	S133T	possibly damaging	Het
Dyx1c1	A	T	9: 72,960,627	I57L	probably damaging	Het
Ehd4	C	T	2: 120,091,492	G428S	probably benign	Het
Eml1	C	T	12: 108,538,217	R812*	probably null	Het
Enpp1	C	T	10: 24,654,888	D557N	possibly damaging	Het
Fn3krp	A	G	11: 121,424,977	T65A	probably damaging	Het
Galnt5	A	G	2: 57,998,603	R72G	probably benign	Het
Gfod1	C	T	13: 43,200,860	R213H	possibly damaging	Het
Gm10518	A	G	1: 179,803,645		probably benign	Het
Gm5431	A	G	11: 48,889,255	F558S	probably damaging	Het
Got1	C	T	19: 43,515,680		probably null	Het
Gucy2g	C	T	19: 55,237,759	V242I	probably benign	Het
Hdgfl2	T	A	17: 56,099,874	V606E	possibly damaging	Het
Hoxa3	T	C	6: 52,169,999		probably benign	Het
Iqub	T	A	6: 24,491,671	I339L	probably benign	Het
Kdm4c	C	T	4: 74,345,483	T668I	probably benign	Het
Klhl32	T	C	4: 24,617,474	I592V	probably benign	Het
Mfsd12	G	T	10: 81,362,087	M296I	probably benign	Het
Mfsd4b4	C	T	10: 39,892,441	A219T	probably damaging	Het
Mrpl52	T	C	14: 54,426,957	S9P	possibly damaging	Het
Nbr1	A	G	11: 101,567,214	Y273C	possibly damaging	Het
Ncf4	G	T	15: 78,260,646	G217V	probably damaging	Het
Neo1	T	C	9: 58,990,385	E96G	probably benign	Het
Nid2	T	A	14: 19,768,276	N279K	probably damaging	Het
Nr5a2	A	G	1: 136,944,994	Y56H	probably damaging	Het
Ntn4	C	T	10: 93,707,353	R314W	probably damaging	Het
Nynrin	A	G	14: 55,863,592	T280A	probably benign	Het
Olfr1364	A	G	13: 21,574,256	F67L	probably benign	Het
Olfr1367	T	A	13: 21,346,946	I6N	probably benign	Het
Olfr1463	T	C	19: 13,235,029	Y260H	probably damaging	Het
Olfr545	A	G	7: 102,494,059	S239P	possibly damaging	Het
Olfr97	A	G	17: 37,231,543	Y276H	probably damaging	Het
Otog	G	A	7: 46,246,283	C107Y	probably damaging	Het
Ptprn	A	G	1: 75,254,122	V565A	probably benign	Het
Rbm6	T	G	9: 107,852,903	D182A	probably damaging	Het
Rhbg	A	G	3: 88,244,552	F400L	probably benign	Het
Rpl22l1	T	A	3: 28,806,589	N33K	possibly damaging	Het
Rtp1	T	A	16: 23,431,209	I108N	probably damaging	Het
Sema6b	A	T	17: 56,132,797	F15I	probably benign	Het
Sirpa	C	T	2: 129,616,376	T304I	possibly damaging	Het
Slc22a29	A	G	19: 8,207,066	I257T	probably benign	Het
Slc41a1	T	C	1: 131,841,200	I256T	probably damaging	Het
Smg6	A	G	11: 75,142,848	K1208R	probably damaging	Het
Sorcs1	G	T	19: 50,222,195	P744Q	probably damaging	Het
Sptbn5	T	C	2: 120,070,462	T213A	probably benign	Het
St18	A	G	1: 6,802,712	T224A	probably benign	Het
Stat3	T	C	11: 100,894,829	N465S	probably damaging	Het
Stmn2	T	A	3: 8,545,576	M40K	probably benign	Het
Tespa1	A	G	10: 130,348,239	D63G	probably benign	Het
Thrb	T	A	14: 18,008,674	C133S	probably damaging	Het
Tmem25	C	T	9: 44,796,483	V172M	possibly damaging	Het
Tns2	C	T	15: 102,108,934	R281C	probably damaging	Het
Trhde	T	A	10: 114,800,849	Y151F	probably damaging	Het
Trp53bp2	A	G	1: 182,452,664	T912A	probably damaging	Het
Unc79	C	A	12: 103,169,692	A2269E	probably damaging	Het
Zfp507	C	T	7: 35,793,725	R631Q	probably damaging	Het
Zfp758	T	G	17: 22,375,842	S436R	probably damaging	Het
Zfp791	G	T	8: 85,110,683	T184K	probably benign	Het
Znrf3	A	G	11: 5,281,062	V817A	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
R2327:Efs	UTSW	14	54917504	missense	probably benign	0.01
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'- CCTCGGTGAGTGGCTAAAATG -3'
(R):5'- AGCCACCATGTCTCTTTGTG -3'

Sequencing Primer
(F):5'- TGACCGAAAGAGATGAACCTCTAGC -3'
(R):5'- CAAAAGAGTGGTGGTGGCTGC -3'

Posted On

2014-07-14