Mutagenetix > Incidental Mutations

Incidental Mutation 'R5885:Fam47e'

456033

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

Gm1381, LOC384198

MMRRC Submission

043237-MU

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92555069-92591279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92565968 bp

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 152 (K152R)

Ref Sequence

ENSEMBL: ENSMUSP00000115229 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000146417]

Predicted Effect

probably damaging
Transcript: ENSMUST00000146417
AA Change: K152R

PolyPhen 2 Score 0.967 (Sensitivity: 0.77; Specificity: 0.95)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: K152R

Domain	Start	End	E-Value	Type
Pfam:FAM47	17	191	1.7e-31	PFAM
low complexity region	339	353	N/A	INTRINSIC

Predicted Effect

unknown
Transcript: ENSMUST00000149617
AA Change: S29G

Coding Region Coverage

1x: 99.9%
3x: 99.4%
10x: 97.4%
20x: 91.8%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A530099J19Rik	A	T	13: 19,729,349		noncoding transcript	Het
Acot10	T	A	15: 20,666,104	M184L	probably benign	Het
Adgrv1	A	T	13: 81,424,271	S4924T	probably benign	Het
Atp10a	T	A	7: 58,813,800	M1027K	possibly damaging	Het
Axl	T	A	7: 25,766,852	K510I	probably damaging	Het
Azi2	T	A	9: 118,047,560	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,029,491	K260E	probably benign	Het
Dnah3	T	C	7: 120,069,704	I720V	probably benign	Het
Dnah8	C	T	17: 30,794,717	P3811S	probably damaging	Het
Epas1	A	G	17: 86,827,544	D535G	probably damaging	Het
Fbxl3	A	T	14: 103,083,231	I260K	probably benign	Het
Fcgr3	A	G	1: 171,057,711	V115A	probably damaging	Het
Fgf12	G	T	16: 28,398,294	D98E	possibly damaging	Het
Flt3	T	C	5: 147,349,629	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,445,147		noncoding transcript	Het
Grin2a	A	G	16: 9,761,905	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,842,362	W168R	probably damaging	Het
Itga11	A	G	9: 62,762,850	Y752C	probably damaging	Het
Khdrbs3	A	G	15: 69,024,698		probably null	Het
Kif24	A	T	4: 41,423,463	Y263N	probably damaging	Het
Lama5	G	T	2: 180,201,831	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,015,972	V335D	possibly damaging	Het
Map1b	A	T	13: 99,430,081	I2044N	unknown	Het
Mast2	C	T	4: 116,314,838	G638S	probably damaging	Het
Myo9a	T	C	9: 59,871,220	S1420P	probably benign	Het
Neurl2	T	C	2: 164,832,891	T184A	probably damaging	Het
Nfatc3	A	G	8: 106,096,312	I577V	probably benign	Het
Nipal3	A	T	4: 135,471,977	V186E	probably damaging	Het
Pgbd5	G	A	8: 124,384,466	T162M	probably damaging	Het
Plod2	T	A	9: 92,606,656		probably null	Het
Psg22	T	A	7: 18,718,332	L19Q	probably damaging	Het
Psg27	T	A	7: 18,561,786	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,088,508	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,057	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,440,674	R137W	probably damaging	Het
Spats2l	C	T	1: 57,946,162	A458V	probably damaging	Het
Sptbn5	A	G	2: 120,076,663		probably benign	Het
Stox1	C	A	10: 62,664,848	L644F	probably damaging	Het
Sv2b	C	T	7: 75,156,753	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,700,291	L239F	probably damaging	Het
Trrap	T	A	5: 144,794,793	V854E	probably damaging	Het
Vmn2r97	A	G	17: 18,947,773	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,606,911	W128R	probably damaging	Het

Other mutations in Fam47e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Fam47e	APN	5	92579663	missense	probably damaging	1.00
R0646:Fam47e	UTSW	5	92578458	intron	probably benign
R1170:Fam47e	UTSW	5	92565922	splice site	probably benign
R1216:Fam47e	UTSW	5	92562484	missense	probably damaging	0.99
R1926:Fam47e	UTSW	5	92585385	missense	possibly damaging	0.61
R3434:Fam47e	UTSW	5	92585362	missense	probably damaging	0.99
R3435:Fam47e	UTSW	5	92585362	missense	probably damaging	0.99
R4899:Fam47e	UTSW	5	92574669	missense	probably benign	0.23
R4925:Fam47e	UTSW	5	92585290	missense	probably damaging	1.00
R6060:Fam47e	UTSW	5	92579613	missense	possibly damaging	0.88
R6278:Fam47e	UTSW	5	92562517	missense	probably damaging	1.00
R6964:Fam47e	UTSW	5	92566052	missense	probably damaging	1.00
R7661:Fam47e	UTSW	5	92587525	missense	probably damaging	0.97
R7992:Fam47e	UTSW	5	92574682	missense	probably damaging	1.00
R8349:Fam47e	UTSW	5	92555131	missense	probably benign	0.27
R8449:Fam47e	UTSW	5	92555131	missense	probably benign	0.27
Z1176:Fam47e	UTSW	5	92579668	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- AGCAGGGCTTGATGAATGGC -3'
(R):5'- AAGCCCAAATGAGGAAAATTATTCT -3'

Sequencing Primer
(F):5'- TGGAACTCACTCTGTAGACCAGG -3'
(R):5'- TCTACATATGACAAGGCCTTCCTAGG -3'

Posted On

2017-02-15