Mutagenetix > Incidental Mutation

Incidental Mutation 'R6054:Efs'

484329

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

044222-MU

Accession Numbers

Essential gene?

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

Stock #

R6054 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

55153992-55163583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55158614 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Asparagine at position 15 (D15N)

Ref Sequence

ENSEMBL: ENSMUSP00000022813 (fasta)

Gene Model

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

AlphaFold

Q64355

Predicted Effect

probably damaging
Transcript: ENSMUST00000022813
AA Change: D15N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: D15N

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

Predicted Effect

possibly damaging
Transcript: ENSMUST00000227587
AA Change: D15N

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)

Coding Region Coverage

1x: 99.9%
3x: 99.7%
10x: 98.2%
20x: 94.8%

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: 62 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930562C15Rik	T	C	16: 4,653,729 (GRCm39)	S93P	unknown	Het
Adam28	T	A	14: 68,879,601 (GRCm39)	N149I	probably benign	Het
Adam4	A	C	12: 81,466,828 (GRCm39)	F598V	probably damaging	Het
Adh5	A	G	3: 138,151,136 (GRCm39)	H33R	possibly damaging	Het
Apoh	A	G	11: 108,286,801 (GRCm39)	N75S	probably damaging	Het
Arrdc5	T	C	17: 56,601,420 (GRCm39)	E235G	possibly damaging	Het
Atm	T	C	9: 53,371,173 (GRCm39)	D2225G	probably damaging	Het
Atp6v0a1	C	T	11: 100,930,715 (GRCm39)	P514L	possibly damaging	Het
Brd9	T	A	13: 74,088,860 (GRCm39)	M195K	probably damaging	Het
Cacna1a	T	G	8: 85,283,414 (GRCm39)	S755A	probably damaging	Het
Ccdc85c	T	A	12: 108,241,028 (GRCm39)	H122L	unknown	Het
Ccs	A	T	19: 4,875,893 (GRCm39)	D192E	probably benign	Het
Cd3e	G	A	9: 44,913,459 (GRCm39)	T92M	possibly damaging	Het
Celsr2	A	G	3: 108,314,279 (GRCm39)	F1249L	possibly damaging	Het
Col16a1	G	A	4: 129,955,515 (GRCm39)		probably benign	Het
Col17a1	A	G	19: 47,668,859 (GRCm39)	Y122H	probably damaging	Het
Col28a1	G	A	6: 8,083,748 (GRCm39)	P570S	possibly damaging	Het
Dchs2	A	T	3: 83,253,543 (GRCm39)	I2318L	probably benign	Het
Dhx35	T	A	2: 158,660,219 (GRCm39)	Y184N	probably benign	Het
Dmxl1	T	G	18: 49,990,453 (GRCm39)	N297K	probably benign	Het
Dsp	G	A	13: 38,351,585 (GRCm39)	G135S	probably benign	Het
Efhb	C	T	17: 53,706,027 (GRCm39)	V837I	possibly damaging	Het
Fbxl19	C	T	7: 127,351,681 (GRCm39)	T314I	probably damaging	Het
Gm11595	A	T	11: 99,663,474 (GRCm39)	C69S	unknown	Het
Grxcr2	A	G	18: 42,119,743 (GRCm39)	V199A	probably benign	Het
Hadha	T	C	5: 30,328,682 (GRCm39)	E468G	probably benign	Het
Hax1	GTCATCATCATCATCATC	GTCATCATCATCATCATCATC	3: 89,905,247 (GRCm39)		probably benign	Het
Hps1	A	T	19: 42,759,217 (GRCm39)	V125E	probably damaging	Het
Hrg	A	T	16: 22,772,412 (GRCm39)	T74S	probably benign	Het
Idh3a	T	C	9: 54,493,829 (GRCm39)		probably null	Het
Leng8	C	A	7: 4,148,522 (GRCm39)		probably null	Het
Maml2	TCAGCAGCAGCAGCAGCAGC	TCAGCAGCAGCAGCAGC	9: 13,532,695 (GRCm39)		probably benign	Het
Mctp2	T	C	7: 71,908,851 (GRCm39)	H154R	probably benign	Het
Megf6	A	G	4: 154,347,636 (GRCm39)	E777G	probably benign	Het
Miip	A	G	4: 147,950,135 (GRCm39)	S154P	probably benign	Het
Mprip	T	C	11: 59,649,251 (GRCm39)	V985A	probably benign	Het
Nmrk2	G	A	10: 81,035,468 (GRCm39)	R158W	probably damaging	Het
Nsd2	T	C	5: 34,039,505 (GRCm39)	S180P	probably damaging	Het
Oga	A	G	19: 45,764,571 (GRCm39)	S190P	probably damaging	Het
Opa1	T	G	16: 29,433,952 (GRCm39)	S596A	probably damaging	Het
Or1ad1	G	A	11: 50,875,631 (GRCm39)	M34I	probably benign	Het
Or51b4	A	G	7: 103,531,033 (GRCm39)	V139A	probably damaging	Het
Pcdha2	A	G	18: 37,073,857 (GRCm39)	E496G	probably damaging	Het
Pcdhb5	T	G	18: 37,454,133 (GRCm39)	V171G	probably damaging	Het
Pramel6	A	G	2: 87,339,003 (GRCm39)	T68A	probably benign	Het
Ptprq	T	C	10: 107,418,219 (GRCm39)	Y1719C	probably damaging	Het
Pzp	T	C	6: 128,490,727 (GRCm39)	N412S	probably benign	Het
Rb1cc1	G	T	1: 6,320,058 (GRCm39)	R1159L	probably benign	Het
Rev3l	T	A	10: 39,700,146 (GRCm39)	S1548T	probably benign	Het
Rora	A	G	9: 69,286,084 (GRCm39)	I471M	probably benign	Het
Scube1	C	A	15: 83,535,877 (GRCm39)	V266L	probably benign	Het
Sema6a	C	T	18: 47,416,470 (GRCm39)	D386N	possibly damaging	Het
Siglecf	T	A	7: 43,004,430 (GRCm39)	L253Q	probably damaging	Het
Spata31d1b	A	G	13: 59,863,464 (GRCm39)	H204R	probably benign	Het
Syt17	T	C	7: 118,007,356 (GRCm39)	T313A	possibly damaging	Het
Tbc1d32	T	C	10: 56,038,304 (GRCm39)	T578A	possibly damaging	Het
Trpm1	A	G	7: 63,918,450 (GRCm39)	S597G	probably benign	Het
Vmn2r9	T	A	5: 108,996,126 (GRCm39)	H174L	probably damaging	Het
Vrk2	A	T	11: 26,436,975 (GRCm39)	S281T	probably benign	Het
Wdr48	A	G	9: 119,736,843 (GRCm39)	D22G	probably damaging	Het
Zfp408	C	A	2: 91,479,636 (GRCm39)	V61L	probably benign	Het
Zfp652	G	A	11: 95,640,689 (GRCm39)	A205T	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
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
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'- ACATGATGAGCCAGGCTG -3'
(R):5'- AGGAGTGTGCCCTCCATGAC -3'

Sequencing Primer
(F):5'- TGCTGGGCAGAGGCTAG -3'
(R):5'- TCCATGACGCTGGCAGG -3'

Posted On

2017-07-14