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: 0.127) question?

Stock #

R2327 (G1)

Quality Score

183

Status

Not validated

Chromosome

Chromosomal Location

55153992-55163583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 55154961 bp (GRCm39)

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] [ENSMUST00000228588] [ENSMUST00000231305] [ENSMUST00000228119] [ENSMUST00000227880] [ENSMUST00000228495]

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

noncoding transcript
Transcript: ENSMUST00000228249

Predicted Effect

probably benign
Transcript: ENSMUST00000228588

Predicted Effect

probably benign
Transcript: ENSMUST00000231305

Predicted Effect

probably benign
Transcript: ENSMUST00000228119

Predicted Effect

probably benign
Transcript: ENSMUST00000227880

Predicted Effect

probably benign
Transcript: ENSMUST00000228495

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: 64,208,569 (GRCm39)		probably null	Het
Agbl4	T	G	4: 111,383,798 (GRCm39)	S218A	probably benign	Het
Apol11b	T	C	15: 77,522,153 (GRCm39)	E48G	probably damaging	Het
Atp4a	T	A	7: 30,419,666 (GRCm39)	N676K	probably benign	Het
Capn5	T	A	7: 97,775,574 (GRCm39)	S456C	probably benign	Het
Ccar1	T	C	10: 62,600,161 (GRCm39)	Y590C	probably damaging	Het
Ccdc188	G	T	16: 18,037,070 (GRCm39)	G283W	probably damaging	Het
Cd69	A	G	6: 129,248,351 (GRCm39)	V45A	probably damaging	Het
Col3a1	G	T	1: 45,377,771 (GRCm39)		probably benign	Het
Cyb561a3	A	T	19: 10,564,166 (GRCm39)	T169S	probably benign	Het
Cyp2c39	A	T	19: 39,527,397 (GRCm39)	I248L	probably benign	Het
Cyp2j13	T	C	4: 95,947,344 (GRCm39)	T236A	possibly damaging	Het
Eme2	A	G	17: 25,113,157 (GRCm39)	L136S	probably damaging	Het
Fastkd1	T	A	2: 69,535,872 (GRCm39)	K312*	probably null	Het
Fbxl12	A	G	9: 20,553,530 (GRCm39)	L19P	probably damaging	Het
Flg2	T	A	3: 93,110,913 (GRCm39)	Y980*	probably null	Het
Fscn2	T	A	11: 120,257,527 (GRCm39)	I296N	probably damaging	Het
Gabrg3	A	G	7: 56,384,835 (GRCm39)	V242A	probably benign	Het
Galk2	A	G	2: 125,817,315 (GRCm39)	H368R	probably damaging	Het
Gm12695	C	T	4: 96,657,893 (GRCm39)	S92N	probably benign	Het
Gpalpp1	A	T	14: 76,336,031 (GRCm39)	S196T	probably benign	Het
Gpld1	A	T	13: 25,168,804 (GRCm39)	M773L	probably benign	Het
Haus8	A	G	8: 71,708,289 (GRCm39)		probably null	Het
Hirip3	A	G	7: 126,462,038 (GRCm39)	R19G	probably damaging	Het
Inpp4a	A	G	1: 37,405,247 (GRCm39)	T92A	probably damaging	Het
Irgm2	A	G	11: 58,111,218 (GRCm39)	D303G	probably damaging	Het
Kpna2rt	C	A	17: 90,217,697 (GRCm39)	R16S	probably benign	Het
Krtap5-2	T	G	7: 141,728,748 (GRCm39)	S311R	unknown	Het
Krtdap	T	A	7: 30,489,185 (GRCm39)		probably null	Het
Lce1g	G	T	3: 92,658,140 (GRCm39)	S56Y	unknown	Het
Lrrn1	G	A	6: 107,545,794 (GRCm39)	V531I	probably benign	Het
Mctp2	T	C	7: 71,861,358 (GRCm39)	E429G	probably damaging	Het
Mrgpra2b	T	G	7: 47,113,793 (GRCm39)	D287A	probably damaging	Het
Mterf3	T	C	13: 67,076,258 (GRCm39)	T150A	probably damaging	Het
Mtus2	A	G	5: 148,014,725 (GRCm39)	N506S	probably benign	Het
Myh15	G	T	16: 48,963,313 (GRCm39)	V1085L	probably benign	Het
Myo9a	A	G	9: 59,687,048 (GRCm39)	N51S	probably benign	Het
Nlrc3	A	T	16: 3,771,304 (GRCm39)	L196Q	probably damaging	Het
Nlrp9c	T	A	7: 26,074,747 (GRCm39)	N816I	probably damaging	Het
Nsun2	T	C	13: 69,767,700 (GRCm39)	V218A	probably benign	Het
Nt5dc1	T	C	10: 34,189,673 (GRCm39)	E339G	possibly damaging	Het
Or10ak14	C	T	4: 118,611,331 (GRCm39)	V135I	probably benign	Het
Or51b6b	A	G	7: 103,309,779 (GRCm39)	V226A	probably damaging	Het
Or8j3c	A	T	2: 86,253,165 (GRCm39)	L285*	probably null	Het
Pik3ap1	A	G	19: 41,284,828 (GRCm39)	I619T	probably damaging	Het
Plk1	A	G	7: 121,759,118 (GRCm39)	D118G	probably benign	Het
Ppat	T	C	5: 77,070,314 (GRCm39)	D168G	possibly damaging	Het
Preb	T	C	5: 31,115,849 (GRCm39)	E198G	probably damaging	Het
Psg21	T	C	7: 18,386,378 (GRCm39)	T203A	possibly damaging	Het
Rbm17	A	G	2: 11,602,942 (GRCm39)	V54A	probably damaging	Het
Rgma	T	A	7: 73,067,574 (GRCm39)	D276E	probably damaging	Het
Ric8a	T	C	7: 140,439,471 (GRCm39)	L77P	probably damaging	Het
Rif1	GCCACCA	GCCA	2: 52,000,336 (GRCm39)		probably benign	Het
Scarf1	A	C	11: 75,416,854 (GRCm39)	E765D	probably damaging	Het
Scart1	A	T	7: 139,803,890 (GRCm39)	N363Y	possibly damaging	Het
Sec14l4	G	A	11: 3,990,041 (GRCm39)	M113I	probably benign	Het
Senp1	C	T	15: 97,980,165 (GRCm39)	C60Y	probably damaging	Het
Slc22a21	T	A	11: 53,842,130 (GRCm39)	K549N	probably benign	Het
Slc39a10	T	C	1: 46,875,156 (GRCm39)	S49G	probably damaging	Het
Spata13	T	C	14: 60,947,004 (GRCm39)	M684T	probably damaging	Het
Spns1	T	C	7: 125,969,958 (GRCm39)	T481A	probably damaging	Het
Stag1	A	G	9: 100,668,666 (GRCm39)	Y198C	possibly damaging	Het
Tgfbr1	T	A	4: 47,402,833 (GRCm39)	V210E	probably damaging	Het
Tnc	C	T	4: 63,893,475 (GRCm39)	E1604K	possibly damaging	Het
Tspan31	T	C	10: 126,904,365 (GRCm39)	D143G	probably benign	Het
Tspan5	T	A	3: 138,603,903 (GRCm39)	Y131*	probably null	Het
Ttc21a	A	G	9: 119,795,189 (GRCm39)	D1070G	probably damaging	Het
Vmn2r26	C	T	6: 124,016,708 (GRCm39)	P391S	probably benign	Het
Vmn2r72	A	G	7: 85,387,464 (GRCm39)	I700T	probably damaging	Het
Vps13c	A	C	9: 67,821,102 (GRCm39)	N1204T	probably damaging	Het
Zfhx4	C	T	3: 5,468,418 (GRCm39)	P2859S	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
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
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'- CTAGGGTGTCTCCAACAAACAC -3'
(R):5'- GAATCAGCTCTGGGCACTTTAC -3'

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

Posted On

2014-10-30