Mutagenetix > Incidental Mutation

Incidental Mutation 'R0832:Fam83e'

77598

Institutional Source

Beutler Lab

Gene Symbol

Fam83e

Ensembl Gene

ENSMUSG00000054161

Gene Name

family with sequence similarity 83, member E

Synonyms

4930403C10Rik

MMRRC Submission

039011-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.052) question?

Stock #

R0832 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

45370636-45378916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

G to A at 45376135 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Lysine at position 283 (E283K)

Ref Sequence

ENSEMBL: ENSMUSP00000114397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000075571] [ENSMUST00000094424] [ENSMUST00000129507] [ENSMUST00000209739] [ENSMUST00000210754]

AlphaFold

Q80XS7

Predicted Effect

probably benign
Transcript: ENSMUST00000075571

SMART Domains

Protein: ENSMUSP00000075005
Gene: ENSMUSG00000003271

Domain	Start	End	E-Value	Type
Pfam:Sulfotransfer_1	57	302	7.8e-84	PFAM
low complexity region	309	337	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000094424

SMART Domains

Protein: ENSMUSP00000091991
Gene: ENSMUSG00000070563

Domain	Start	End	E-Value	Type
signal peptide	1	19	N/A	INTRINSIC
Pfam:UPAR_LY6	23	97	1.7e-7	PFAM
low complexity region	99	123	N/A	INTRINSIC

Predicted Effect

probably damaging
Transcript: ENSMUST00000129507
AA Change: E283K

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: E283K

Domain	Start	End	E-Value	Type
Pfam:DUF1669	18	293	4.8e-105	PFAM
low complexity region	371	385	N/A	INTRINSIC

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000146391
AA Change: G45E

Predicted Effect

probably benign
Transcript: ENSMUST00000209739

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210434

Predicted Effect

probably benign
Transcript: ENSMUST00000210754

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211124

Coding Region Coverage

1x: 99.4%
3x: 98.9%
10x: 97.5%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 4 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Eef2	C	CN	10: 81,014,603 (GRCm39)		probably null	Het
Pdlim2	C	T	14: 70,402,228 (GRCm39)	R296H	probably damaging	Het
Pirb	A	T	7: 3,720,637 (GRCm39)	L287Q	probably benign	Het
Smr2	AT	ATT	5: 88,256,683 (GRCm39)		probably null	Het

Other mutations in Fam83e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Fam83e	APN	7	45,376,493 (GRCm39)	missense	probably benign	0.12
IGL01590:Fam83e	APN	7	45,373,360 (GRCm39)	missense	probably null	1.00
IGL02334:Fam83e	APN	7	45,373,345 (GRCm39)	missense	probably benign	0.00
IGL03155:Fam83e	APN	7	45,376,499 (GRCm39)	missense	possibly damaging	0.90
IGL03276:Fam83e	APN	7	45,372,884 (GRCm39)	missense	possibly damaging	0.72
R0268:Fam83e	UTSW	7	45,376,334 (GRCm39)	missense	probably benign
R0362:Fam83e	UTSW	7	45,376,393 (GRCm39)	missense	probably benign	0.40
R0453:Fam83e	UTSW	7	45,373,372 (GRCm39)	missense	probably damaging	1.00
R0870:Fam83e	UTSW	7	45,376,135 (GRCm39)	missense	probably damaging	1.00
R0871:Fam83e	UTSW	7	45,376,135 (GRCm39)	missense	probably damaging	1.00
R1415:Fam83e	UTSW	7	45,376,135 (GRCm39)	missense	probably damaging	1.00
R1574:Fam83e	UTSW	7	45,376,135 (GRCm39)	missense	probably damaging	1.00
R1574:Fam83e	UTSW	7	45,376,135 (GRCm39)	missense	probably damaging	1.00
R1656:Fam83e	UTSW	7	45,371,687 (GRCm39)	missense	probably benign
R1848:Fam83e	UTSW	7	45,378,194 (GRCm39)	missense	possibly damaging	0.79
R1848:Fam83e	UTSW	7	45,378,193 (GRCm39)	nonsense	probably null
R2189:Fam83e	UTSW	7	45,371,607 (GRCm39)	start codon destroyed	probably null	0.88
R2256:Fam83e	UTSW	7	45,378,194 (GRCm39)	missense	possibly damaging	0.79
R2256:Fam83e	UTSW	7	45,378,193 (GRCm39)	nonsense	probably null
R2257:Fam83e	UTSW	7	45,378,194 (GRCm39)	missense	possibly damaging	0.79
R2257:Fam83e	UTSW	7	45,378,193 (GRCm39)	nonsense	probably null
R4376:Fam83e	UTSW	7	45,373,317 (GRCm39)	missense	probably damaging	1.00
R4600:Fam83e	UTSW	7	45,372,924 (GRCm39)	missense	probably benign	0.01
R5876:Fam83e	UTSW	7	45,371,787 (GRCm39)	splice site	probably null
R6666:Fam83e	UTSW	7	45,376,426 (GRCm39)	missense	probably benign
R6766:Fam83e	UTSW	7	45,376,070 (GRCm39)	missense	probably damaging	1.00
R6781:Fam83e	UTSW	7	45,371,571 (GRCm39)	unclassified	probably benign
R6933:Fam83e	UTSW	7	45,371,818 (GRCm39)	missense	probably benign
R7320:Fam83e	UTSW	7	45,371,896 (GRCm39)	missense	probably benign	0.16
R7477:Fam83e	UTSW	7	45,378,404 (GRCm39)	missense	probably damaging	1.00
R7636:Fam83e	UTSW	7	45,376,450 (GRCm39)	missense	probably damaging	1.00
R8675:Fam83e	UTSW	7	45,373,293 (GRCm39)	missense	probably benign	0.02
R9328:Fam83e	UTSW	7	45,372,912 (GRCm39)	missense	probably benign
R9577:Fam83e	UTSW	7	45,376,439 (GRCm39)	missense	possibly damaging	0.88
R9705:Fam83e	UTSW	7	45,371,921 (GRCm39)	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- TTGTCCTCTTCACCAACGGAGCTG -3'
(R):5'- CGCTGTACACTCCTCAAGATGTCAC -3'

Sequencing Primer
(F):5'- CTGAGCCCTGTGAGATCATGTC -3'
(R):5'- CCTCAAGATGTCACTGAGAGCTG -3'

Posted On

2013-10-16