Mutagenetix > Incidental Mutation

Incidental Mutation 'R8347:Efs'

645326

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: 0.102) question?

Stock #

R8347 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

54916535-54926126 bp(-) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 54919784 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Cysteine to Arginine at position 357 (C357R)

Ref Sequence

ENSEMBL: ENSMUSP00000022813 (fasta)

Gene Model

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

AlphaFold

Q64355

Predicted Effect

probably benign
Transcript: ENSMUST00000022813
AA Change: C357R

PolyPhen 2 Score 0.285 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: C357R

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: ENSMUST00000227037
AA Change: C264R

PolyPhen 2 Score 0.153 (Sensitivity: 0.92; Specificity: 0.87)

Predicted Effect

probably benign
Transcript: ENSMUST00000227587

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.7%
20x: 98.9%

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: 69 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700014D04Rik	T	A	13: 59,742,236	D590V	possibly damaging	Het
1700123K08Rik	T	A	5: 138,562,891	I170L	probably benign	Het
Adamts15	C	T	9: 30,902,550	R773Q	probably benign	Het
Ankib1	A	G	5: 3,747,065	L249P	probably damaging	Het
Cabin1	A	G	10: 75,742,367	F499L	probably damaging	Het
Clec12b	C	T	6: 129,380,487		probably null	Het
Col23a1	G	A	11: 51,571,256	G373D	probably damaging	Het
Cse1l	C	T	2: 166,927,585	T304I	possibly damaging	Het
D6Wsu163e	T	A	6: 126,955,288	L330*	probably null	Het
Dbi	A	C	1: 120,120,820	L32R	possibly damaging	Het
Dennd2c	A	G	3: 103,157,709	Y716C	probably damaging	Het
Dnah5	G	A	15: 28,236,666	M379I	possibly damaging	Het
Dpys	T	C	15: 39,857,313	D17G	probably benign	Het
Dync2h1	C	T	9: 7,116,578	S2319N	possibly damaging	Het
Dyrk2	T	C	10: 118,859,983	K457E	probably damaging	Het
Egfr	T	A	11: 16,878,174	W516R	probably damaging	Het
Folh1	T	A	7: 86,729,118	R529*	probably null	Het
Fsip2	A	C	2: 82,987,854	I4644L	probably benign	Het
Garnl3	T	C	2: 33,085,891	Y66C	probably damaging	Het
Gli3	T	C	13: 15,723,525	L730P	probably damaging	Het
Gm19668	T	C	10: 77,798,387	*249W	probably null	Het
Gm28710	G	A	5: 16,801,574	M96I	probably benign	Het
Ighv2-6-8	T	C	12: 113,796,327	D54G	probably benign	Het
Irs2	C	A	8: 11,008,000	S144I	possibly damaging	Het
Itgb5	T	C	16: 33,940,678	C628R	probably damaging	Het
Kcnh4	A	T	11: 100,757,749	V43D	probably damaging	Het
Krtap16-3	A	T	16: 88,962,619	Y69N	unknown	Het
Lcn12	A	C	2: 25,492,033	D176E	possibly damaging	Het
Lilr4b	T	A	10: 51,481,754	F181L	probably damaging	Het
Med13l	T	A	5: 118,742,597	H1251Q	probably benign	Het
Nppb	C	A	4: 147,986,299	L44M	probably damaging	Het
Nutm2	T	C	13: 50,472,337	V320A	probably benign	Het
Olfr1272	A	T	2: 90,281,676	W300R	probably benign	Het
Olfr291	C	T	7: 84,856,755	P131S	probably damaging	Het
Olfr628	A	G	7: 103,731,943	S6G	probably benign	Het
Olfr987	T	A	2: 85,331,703	H65L	probably damaging	Het
Padi6	T	C	4: 140,735,408	M301V	probably benign	Het
Pappa	G	A	4: 65,327,065	R1530Q	probably damaging	Het
Pcgf6	C	T	19: 47,045,838	D255N	possibly damaging	Het
Pgap3	TCAGCAGCAGCAGCAGCAG	TCAGCAGCAGCAGCAG	11: 98,390,749		probably benign	Het
Phip	A	G	9: 82,908,763	I710T	probably benign	Het
Pla2r1	A	T	2: 60,534,903	Y108N	probably damaging	Het
Plat	G	T	8: 22,772,232	G91W	probably damaging	Het
Rint1	C	G	5: 23,811,772	L512V	probably damaging	Het
Sdad1	A	C	5: 92,298,229	F282L	probably benign	Het
Sirt5	G	T	13: 43,380,501	A189S	probably benign	Het
Slc14a1	T	C	18: 78,111,431	T247A	probably benign	Het
Slc22a6	C	G	19: 8,621,805	R267G	probably damaging	Het
Slfn3	A	G	11: 83,213,589	K429E	possibly damaging	Het
Spag17	T	C	3: 100,027,641	F721S	probably benign	Het
St3gal1	G	A	15: 67,113,662	R48C	probably damaging	Het
Sult2a6	A	G	7: 14,225,958	Y217H	probably benign	Het
Synj2	A	G	17: 6,009,785	N394S	probably damaging	Het
Telo2	A	T	17: 25,104,637	Y605*	probably null	Het
Trank1	T	A	9: 111,367,249	L1447Q	probably damaging	Het
Trim56	A	G	5: 137,112,592	L690P	probably damaging	Het
Trmt13	T	C	3: 116,582,768	T325A	probably benign	Het
Ttn	T	A	2: 76,709,467	T34392S	probably benign	Het
Uncx	A	G	5: 139,546,816	E212G	probably damaging	Het
Ush2a	A	G	1: 188,947,084	T4830A	probably benign	Het
Usp34	C	A	11: 23,412,345	T1616N		Het
Vars	C	T	17: 35,015,977	L1261F	possibly damaging	Het
Vmn1r223	T	C	13: 23,249,850	S205P	probably damaging	Het
Vmn2r118	A	T	17: 55,610,423	I363K	possibly damaging	Het
Vmn2r69	A	T	7: 85,415,630	M16K	probably benign	Het
Wdr62	G	A	7: 30,262,703	T428I	possibly damaging	Het
Yeats4	A	T	10: 117,217,469	L129Q	probably benign	Het
Zfp423	T	C	8: 87,783,156	R187G	probably damaging	Het
Zfp853	A	T	5: 143,288,947	L321Q	unknown	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
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
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'- GCATGTGGTATTCACTCAAGTGG -3'
(R):5'- AGGCTACCATCCACTGAGAG -3'

Sequencing Primer
(F):5'- CTAGTGCTGGAGTCCCAAGCTAC -3'
(R):5'- ATCCACTGAGAGCCTGTCC -3'

Posted On

2020-09-02