Mutagenetix > Incidental Mutation

Incidental Mutation 'R2189:Fam83e'

237969

Institutional Source

Beutler Lab

Gene Symbol

Fam83e

Ensembl Gene

ENSMUSG00000054161

Gene Name

family with sequence similarity 83, member E

Synonyms

4930403C10Rik

MMRRC Submission

040191-MU

Accession Numbers

Essential gene?

Probably non essential (E-score: 0.056) question?

Stock #

R2189 (G1)

Quality Score

112

Status

Not validated

Chromosome

Chromosomal Location

45721212-45729492 bp(+) (GRCm38)

Type of Mutation

start codon destroyed

DNA Base Change (assembly)

G to T at 45722183 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Methionine to Isoleucine at position 1 (M1I)

Ref Sequence

ENSEMBL: ENSMUSP00000114397 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000072503] [ENSMUST00000094424] [ENSMUST00000107737] [ENSMUST00000129507] [ENSMUST00000209287] [ENSMUST00000209693] [ENSMUST00000210060] [ENSMUST00000211435] [ENSMUST00000210640] [ENSMUST00000211061]

AlphaFold

Q80XS7

Predicted Effect

probably benign
Transcript: ENSMUST00000072503

SMART Domains

Protein: ENSMUSP00000072320
Gene: ENSMUSG00000059070

Domain	Start	End	E-Value	Type
PDB:2ZKR\|O	1	188	1e-116	PDB
SCOP:d1jj2n_	22	139	1e-43	SMART

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 benign
Transcript: ENSMUST00000107737

SMART Domains

Protein: ENSMUSP00000103366
Gene: ENSMUSG00000057342

Domain	Start	End	E-Value	Type
SCOP:d1epfa2	63	87	1e-2	SMART
DAGKc	147	284	4.49e-5	SMART
low complexity region	369	376	N/A	INTRINSIC
low complexity region	429	440	N/A	INTRINSIC
PDB:3VZB\|C	468	609	4e-25	PDB

Predicted Effect

probably null
Transcript: ENSMUST00000129507
AA Change: M1I

PolyPhen 2 Score 0.883 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: M1I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000209287

Predicted Effect

probably benign
Transcript: ENSMUST00000209556

Predicted Effect

probably benign
Transcript: ENSMUST00000209693

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000209723

Predicted Effect

probably benign
Transcript: ENSMUST00000209867

Predicted Effect

probably benign
Transcript: ENSMUST00000210060

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211425

Predicted Effect

probably benign
Transcript: ENSMUST00000211435

Predicted Effect

probably benign
Transcript: ENSMUST00000210640

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000210434

Predicted Effect

probably benign
Transcript: ENSMUST00000211061

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211124

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000211325

Coding Region Coverage

1x: 99.2%
3x: 98.7%
10x: 97.3%
20x: 95.1%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 40 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acan	G	C	7: 79,098,091	G870A	probably damaging	Het
Adamtsl2	T	C	2: 27,081,738	W12R	probably benign	Het
Bsph1	G	A	7: 13,470,329		probably null	Het
Celsr1	G	T	15: 85,979,230	H1200Q	possibly damaging	Het
Clptm1	A	T	7: 19,637,145	Y355*	probably null	Het
Cry2	T	C	2: 92,411,692	E572G	possibly damaging	Het
Dlk1	G	A	12: 109,455,049		probably null	Het
Eral1	A	G	11: 78,075,831	V201A	probably benign	Het
Esrp1	A	T	4: 11,357,603	M503K	probably benign	Het
Flt4	G	A	11: 49,635,698	A835T	probably benign	Het
Hdac4	T	C	1: 91,975,522	S562G	probably null	Het
Hist1h2bn	A	G	13: 21,754,277	D52G	probably damaging	Het
Icosl	A	G	10: 78,073,925	T235A	possibly damaging	Het
Itga6	A	G	2: 71,825,617	D295G	probably benign	Het
Klk14	G	A	7: 43,692,077	C51Y	probably damaging	Het
Lipa	A	T	19: 34,524,799	L15Q	probably benign	Het
Mcc	T	C	18: 44,534,230	E218G	possibly damaging	Het
Mdga2	A	G	12: 66,473,196		probably null	Het
Mmadhc	A	C	2: 50,288,946	C153W	probably damaging	Het
Myh1	A	G	11: 67,221,604	D1799G	probably damaging	Het
Nlrp1b	T	A	11: 71,169,795	Q729L	probably damaging	Het
Ofcc1	T	A	13: 40,180,448	Q389L	probably benign	Het
Olfr1030	A	G	2: 85,984,068	D76G	probably damaging	Het
Olfr469	T	C	7: 107,822,615	I285V	probably benign	Het
Olfr481	A	T	7: 108,081,036	M81L	possibly damaging	Het
Olfr691	A	G	7: 105,337,602	V38A	probably benign	Het
Pml	T	C	9: 58,234,874	N225S	probably benign	Het
Rnf213	A	G	11: 119,430,361	E1215G	probably benign	Het
Scap	T	A	9: 110,377,693	I402N	probably damaging	Het
Sgsm2	A	G	11: 74,853,082	L886P	probably damaging	Het
Sugct	T	C	13: 17,662,266	I104V	probably benign	Het
Tmem200c	A	G	17: 68,840,686	Q88R	probably damaging	Het
Tnfrsf1a	T	A	6: 125,357,805	L14Q	probably benign	Het
Tnk2	C	T	16: 32,671,421	L381F	probably damaging	Het
Ubr2	C	T	17: 46,943,364	V1454I	probably benign	Het
V1ra8	A	C	6: 90,202,962	D49A	probably damaging	Het
Vmn2r5	A	C	3: 64,509,593	M48R	probably benign	Het
Yars	A	G	4: 129,206,189	I227V	probably damaging	Het
Zfp850	C	A	7: 27,989,055	R576L	probably benign	Het
Zfpm2	T	A	15: 41,101,183	F223I	possibly damaging	Het

Other mutations in Fam83e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00235:Fam83e	APN	7	45727069	missense	probably benign	0.12
IGL01590:Fam83e	APN	7	45723936	missense	probably null	1.00
IGL02334:Fam83e	APN	7	45723921	missense	probably benign	0.00
IGL03155:Fam83e	APN	7	45727075	missense	possibly damaging	0.90
IGL03276:Fam83e	APN	7	45723460	missense	possibly damaging	0.72
R0268:Fam83e	UTSW	7	45726910	missense	probably benign
R0362:Fam83e	UTSW	7	45726969	missense	probably benign	0.40
R0453:Fam83e	UTSW	7	45723948	missense	probably damaging	1.00
R0832:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R0870:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R0871:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R1415:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R1574:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R1574:Fam83e	UTSW	7	45726711	missense	probably damaging	1.00
R1656:Fam83e	UTSW	7	45722263	missense	probably benign
R1848:Fam83e	UTSW	7	45728769	nonsense	probably null
R1848:Fam83e	UTSW	7	45728770	missense	possibly damaging	0.79
R2256:Fam83e	UTSW	7	45728769	nonsense	probably null
R2256:Fam83e	UTSW	7	45728770	missense	possibly damaging	0.79
R2257:Fam83e	UTSW	7	45728769	nonsense	probably null
R2257:Fam83e	UTSW	7	45728770	missense	possibly damaging	0.79
R4376:Fam83e	UTSW	7	45723893	missense	probably damaging	1.00
R4600:Fam83e	UTSW	7	45723500	missense	probably benign	0.01
R5876:Fam83e	UTSW	7	45722363	splice site	probably null
R6666:Fam83e	UTSW	7	45727002	missense	probably benign
R6766:Fam83e	UTSW	7	45726646	missense	probably damaging	1.00
R6781:Fam83e	UTSW	7	45722147	unclassified	probably benign
R6933:Fam83e	UTSW	7	45722394	missense	probably benign
R7320:Fam83e	UTSW	7	45722472	missense	probably benign	0.16
R7477:Fam83e	UTSW	7	45728980	missense	probably damaging	1.00
R7636:Fam83e	UTSW	7	45727026	missense	probably damaging	1.00
R8675:Fam83e	UTSW	7	45723869	missense	probably benign	0.02
R9328:Fam83e	UTSW	7	45723488	missense	probably benign
R9577:Fam83e	UTSW	7	45727015	missense	possibly damaging	0.88
R9705:Fam83e	UTSW	7	45722497	missense	probably benign	0.01

Predicted Primers

PCR Primer
(F):5'- AGTCTGTAGGGACTGAGTCG -3'
(R):5'- ACTAGCCAGTCTTCAGCAGC -3'

Sequencing Primer
(F):5'- TAGGGACTGAGTCGGGCAC -3'
(R):5'- AGTCTTCAGCAGCCGTAGC -3'

Posted On

2014-10-02