Mutagenetix > Incidental Mutation

Incidental Mutation 'R0129:Efs'

21589

Institutional Source

Beutler Lab

Gene Symbol

Efs

Ensembl Gene

ENSMUSG00000022203

Gene Name

embryonal Fyn-associated substrate

Synonyms

MMRRC Submission

038414-MU

Accession Numbers

Essential gene?

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

Stock #

R0129 (G1)

Quality Score

Status

Validated (trace)

Chromosome

Chromosomal Location

55153992-55163583 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 55154680 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Alanine to Threonine at position 427 (A427T)

Ref Sequence

ENSEMBL: ENSMUSP00000154657 (fasta)

Gene Model

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

AlphaFold

Q64355

Predicted Effect

probably damaging
Transcript: ENSMUST00000022813
AA Change: A520T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000022813
Gene: ENSMUSG00000022203
AA Change: A520T

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 damaging
Transcript: ENSMUST00000227037
AA Change: A427T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

Predicted Effect

probably benign
Transcript: ENSMUST00000227587

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000227600

Predicted Effect

probably benign
Transcript: ENSMUST00000228588

Predicted Effect

probably benign
Transcript: ENSMUST00000227880

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000228249

Predicted Effect

probably benign
Transcript: ENSMUST00000231305

Predicted Effect

probably benign
Transcript: ENSMUST00000228495

Predicted Effect

probably benign
Transcript: ENSMUST00000228119

Meta Mutation Damage Score

0.0916

Coding Region Coverage

1x: 99.1%
3x: 97.7%
10x: 92.2%
20x: 74.4%

Validation Efficiency

100% (80/80)

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
Acaa2	A	G	18: 74,920,265 (GRCm39)	D31G	probably damaging	Het
Actr2	A	G	11: 20,050,939 (GRCm39)		probably benign	Het
Adcy8	A	G	15: 64,618,862 (GRCm39)	C764R	probably benign	Het
Ago4	A	C	4: 126,410,976 (GRCm39)	F171C	possibly damaging	Het
Akt2	T	C	7: 27,336,395 (GRCm39)	F408S	probably damaging	Het
Ankrd24	T	C	10: 81,474,163 (GRCm39)	L26P	probably damaging	Het
Appl1	A	T	14: 26,650,600 (GRCm39)	M524K	probably damaging	Het
Arhgef11	T	A	3: 87,635,370 (GRCm39)	I922N	probably damaging	Het
Atp5pd	T	C	11: 115,308,744 (GRCm39)	E47G	probably damaging	Het
Birc6	A	G	17: 74,835,755 (GRCm39)	D70G	probably benign	Het
Bola2	G	A	7: 126,295,731 (GRCm39)	V56M	probably damaging	Het
Cd300lg	A	G	11: 101,944,918 (GRCm39)		probably null	Het
Cdc42bpb	A	G	12: 111,271,393 (GRCm39)		probably benign	Het
Ceacam20	A	G	7: 19,710,185 (GRCm39)	N403S	probably damaging	Het
Cenpf	T	C	1: 189,391,847 (GRCm39)	M662V	probably benign	Het
Chd3	C	A	11: 69,239,327 (GRCm39)	E1607*	probably null	Het
Chtf18	A	T	17: 25,946,285 (GRCm39)	Y9*	probably null	Het
Clta	A	G	4: 44,032,424 (GRCm39)	N200S	probably benign	Het
Csmd1	G	A	8: 16,129,956 (GRCm39)	S1722F	possibly damaging	Het
Cyria	C	T	12: 12,412,350 (GRCm39)	T204I	probably damaging	Het
Dennd4a	T	C	9: 64,800,576 (GRCm39)	S905P	probably damaging	Het
Dhx57	T	C	17: 80,546,343 (GRCm39)	K1347R	probably damaging	Het
Dmc1	A	T	15: 79,480,441 (GRCm39)		probably benign	Het
Dnhd1	G	T	7: 105,370,131 (GRCm39)	A4519S	probably benign	Het
Dnmbp	A	G	19: 43,838,466 (GRCm39)	C1120R	probably benign	Het
Erich6	T	C	3: 58,531,799 (GRCm39)	E399G	probably damaging	Het
Espl1	A	G	15: 102,225,083 (GRCm39)	T1431A	probably benign	Het
Fam184b	A	G	5: 45,690,120 (GRCm39)	S830P	probably damaging	Het
Herc1	T	A	9: 66,355,357 (GRCm39)	C2203S	probably damaging	Het
Itpr1	G	A	6: 108,326,637 (GRCm39)	V120M	probably damaging	Het
Kcnh7	G	A	2: 62,546,503 (GRCm39)	T1026I	probably benign	Het
Kif1b	A	G	4: 149,345,658 (GRCm39)	I394T	probably benign	Het
Ldlrap1	A	C	4: 134,484,733 (GRCm39)	V87G	probably damaging	Het
Lgals12	C	T	19: 7,580,403 (GRCm39)	V155I	probably damaging	Het
Limch1	A	T	5: 67,116,933 (GRCm39)	N116I	probably damaging	Het
Lonp2	C	T	8: 87,361,518 (GRCm39)	R232C	probably damaging	Het
Lrch1	C	A	14: 75,073,186 (GRCm39)	C151F	probably benign	Het
Lrig3	A	G	10: 125,842,812 (GRCm39)	Y579C	probably damaging	Het
Macf1	T	C	4: 123,327,068 (GRCm39)	S4808G	probably damaging	Het
Mapkap1	A	T	2: 34,513,494 (GRCm39)	K501N	probably damaging	Het
Mdc1	G	T	17: 36,165,337 (GRCm39)	R1523L	probably benign	Het
Mlh3	C	T	12: 85,312,914 (GRCm39)		probably benign	Het
Mul1	T	C	4: 138,165,032 (GRCm39)		probably benign	Het
Mybl2	G	A	2: 162,901,411 (GRCm39)		probably benign	Het
Notch1	G	C	2: 26,350,470 (GRCm39)	H2223Q	probably benign	Het
Notch2	C	A	3: 98,053,936 (GRCm39)	L2200M	probably benign	Het
Odad3	G	T	9: 21,904,848 (GRCm39)	R313S	probably damaging	Het
Or10ak8	A	T	4: 118,774,667 (GRCm39)		probably null	Het
Or12k5	G	A	2: 36,895,057 (GRCm39)	R190*	probably null	Het
Or5ae2	T	A	7: 84,506,196 (GRCm39)	F206L	probably benign	Het
Or8a1b	T	C	9: 37,623,236 (GRCm39)	Y113C	probably damaging	Het
Plekhs1	T	C	19: 56,465,722 (GRCm39)		probably null	Het
Ppm1h	G	A	10: 122,777,260 (GRCm39)	G509R	probably damaging	Het
Ppp2r3c	C	T	12: 55,345,207 (GRCm39)	E94K	probably damaging	Het
Ppp2r5e	T	A	12: 75,509,164 (GRCm39)	I372F	probably damaging	Het
Ptprt	G	A	2: 162,119,990 (GRCm39)	T159I	probably benign	Het
Rab20	A	G	8: 11,504,415 (GRCm39)	F95S	probably damaging	Het
Rfc3	A	C	5: 151,574,616 (GRCm39)	M1R	probably null	Het
Skp2	A	G	15: 9,125,280 (GRCm39)	S100P	probably damaging	Het
Smg5	T	C	3: 88,256,540 (GRCm39)	S269P	probably benign	Het
Sspo	A	T	6: 48,432,352 (GRCm39)	T684S	probably benign	Het
Syt3	A	G	7: 44,042,782 (GRCm39)	K355E	probably damaging	Het
Tcp10a	A	T	17: 7,610,903 (GRCm39)	K355N	probably damaging	Het
Tnrc18	A	G	5: 142,750,800 (GRCm39)		probably benign	Het
Tsfm	A	G	10: 126,866,339 (GRCm39)	L74P	probably benign	Het
Ttn	G	C	2: 76,564,609 (GRCm39)	N28509K	probably damaging	Het
Ube2l6	G	A	2: 84,629,252 (GRCm39)	M1I	probably null	Het
Vmn2r80	T	A	10: 79,005,330 (GRCm39)	H322Q	probably damaging	Het
Zkscan8	A	T	13: 21,706,441 (GRCm39)	S212T	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
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
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'- AGATGAACCTCTAGCCGTCCTCAAC -3'
(R):5'- TTACTCAGCTCTGCAAGCTGCC -3'

Sequencing Primer
(F):5'- TCCTCAACACGGAGTGCAG -3'
(R):5'- GCACCCAGGCCAACCAG -3'

Posted On

2013-04-11