Mutagenetix > Incidental Mutation

Incidental Mutation 'R6766:Fam83e'

531925

Institutional Source

Beutler Lab

Gene Symbol

Fam83e

Ensembl Gene

ENSMUSG00000054161

Gene Name

family with sequence similarity 83, member E

Synonyms

4930403C10Rik

MMRRC Submission

044882-MU

Accession Numbers

Essential gene?

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

Stock #

R6766 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

45370636-45378916 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 45376070 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Aspartic acid to Glycine at position 261 (D261G)

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: D261G

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

SMART Domains

Protein: ENSMUSP00000114397
Gene: ENSMUSG00000054161
AA Change: D261G

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: ENSMUST00000209739

Predicted Effect

probably benign
Transcript: ENSMUST00000210754

Coding Region Coverage

1x: 99.9%
3x: 99.8%
10x: 98.8%
20x: 96.7%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 56 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adam32	G	A	8: 25,362,646 (GRCm39)	S17L	probably damaging	Het
Akt3	A	T	1: 176,877,756 (GRCm39)	Y337*	probably null	Het
Ankrd34c	A	G	9: 89,611,381 (GRCm39)	V320A	probably benign	Het
Aox1	C	A	1: 58,388,227 (GRCm39)	L1112I	possibly damaging	Het
Arap2	A	C	5: 62,834,443 (GRCm39)		probably null	Het
Atm	A	T	9: 53,401,582 (GRCm39)	I1429N	probably damaging	Het
Ccdc68	A	G	18: 70,099,861 (GRCm39)	N290D	probably damaging	Het
Chst1	T	C	2: 92,443,542 (GRCm39)	W5R	probably damaging	Het
Clip1	G	T	5: 123,752,827 (GRCm39)		probably benign	Het
Crebbp	T	C	16: 3,935,364 (GRCm39)	T842A	probably damaging	Het
Cyp2b13	T	C	7: 25,781,236 (GRCm39)		probably null	Het
Dnah8	G	A	17: 30,967,542 (GRCm39)	D2585N	probably benign	Het
Dock1	T	A	7: 134,358,522 (GRCm39)		probably null	Het
Dst	A	G	1: 34,333,564 (GRCm39)	I4800V	probably damaging	Het
Efcab7	CAAGTAAAGTAA	CAAGTAA	4: 99,735,161 (GRCm39)		probably null	Het
Epb41l2	C	T	10: 25,348,990 (GRCm39)	Q382*	probably null	Het
Ifnk	T	G	4: 35,152,134 (GRCm39)	S21A	possibly damaging	Het
Ift122	A	G	6: 115,903,204 (GRCm39)	H1157R	probably benign	Het
Ighv1-67	T	C	12: 115,567,654 (GRCm39)	K67R	possibly damaging	Het
Inpp4a	C	A	1: 37,411,422 (GRCm39)	A97D	probably damaging	Het
Insm1	T	A	2: 146,065,346 (GRCm39)	Y387*	probably null	Het
Irgm1	T	C	11: 48,756,928 (GRCm39)	I294M	possibly damaging	Het
Isoc2b	C	T	7: 4,854,061 (GRCm39)	V104M	probably damaging	Het
Kif2c	A	C	4: 117,024,280 (GRCm39)	S311R	probably benign	Het
Morn3	G	A	5: 123,179,270 (GRCm39)	A60V	probably damaging	Het
Oit3	T	C	10: 59,274,534 (GRCm39)	N89D	probably damaging	Het
Or14c40	A	T	7: 86,313,293 (GRCm39)	N141I	probably damaging	Het
Or4c116	G	T	2: 88,942,640 (GRCm39)	T72N	possibly damaging	Het
Or4c127	T	C	2: 89,832,876 (GRCm39)	V42A	probably benign	Het
Or5d44	T	A	2: 88,142,095 (GRCm39)	Q15L	noncoding transcript	Het
Or8b48	A	C	9: 38,493,069 (GRCm39)	R165S	probably damaging	Het
Pan2	C	A	10: 128,150,381 (GRCm39)	N708K	possibly damaging	Het
Parp1	T	A	1: 180,425,927 (GRCm39)	V886E	probably damaging	Het
Pcdha8	C	A	18: 37,127,753 (GRCm39)	A745E	probably benign	Het
Pcyox1	C	T	6: 86,371,390 (GRCm39)		probably null	Het
Prl2c2	A	T	13: 13,176,713 (GRCm39)		probably null	Het
Samd1	T	C	8: 84,726,361 (GRCm39)	S473P	possibly damaging	Het
Slc26a1	A	T	5: 108,819,773 (GRCm39)	D475E	probably damaging	Het
Slco1c1	T	C	6: 141,493,535 (GRCm39)	V239A	possibly damaging	Het
Smo	T	A	6: 29,736,044 (GRCm39)	L12Q	unknown	Homo
Srpk1	C	T	17: 28,821,727 (GRCm39)	R229Q	possibly damaging	Het
Syn2	T	A	6: 115,216,362 (GRCm39)	F191L	probably damaging	Het
Syngr2	T	C	11: 117,704,261 (GRCm39)	V182A	probably benign	Het
Tarbp1	G	A	8: 127,174,139 (GRCm39)	A889V	probably benign	Het
Tbc1d2b	T	C	9: 90,108,262 (GRCm39)	T430A	probably benign	Het
Tmem217	T	A	17: 29,745,484 (GRCm39)	Y82F	probably damaging	Het
Ttll9	T	A	2: 152,841,220 (GRCm39)	Y272*	probably null	Het
Uts2r	A	G	11: 121,052,033 (GRCm39)	Y299C	probably damaging	Het
Vsig8	T	A	1: 172,388,143 (GRCm39)	M37K	probably benign	Het
Vwf	G	T	6: 125,616,339 (GRCm39)	D1218Y	unknown	Het
Wdr11	T	G	7: 129,226,036 (GRCm39)	M727R	probably benign	Het
Wwc2	A	G	8: 48,353,826 (GRCm39)	Y103H	possibly damaging	Het
Yod1	T	A	1: 130,647,008 (GRCm39)	L295*	probably null	Het
Zfp113	G	T	5: 138,143,608 (GRCm39)	S214*	probably null	Het
Zfp438	T	A	18: 5,213,780 (GRCm39)	M393L	probably benign	Het
Zfp946	G	A	17: 22,674,752 (GRCm39)	C502Y	probably benign	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
R0832:Fam83e	UTSW	7	45,376,135 (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
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'- TCCAGTCATCTAACTTTAGGTAGTC -3'
(R):5'- TCAGACAGCAATGGGGCTAC -3'

Sequencing Primer
(F):5'- AGATAGTCTCATGTAGCCTAGGC -3'
(R):5'- TACAGGGGCCACAGGAC -3'

Posted On

2018-08-29