Mutagenetix > Incidental Mutation

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

LOC384198, Gm1381

MMRRC Submission

043237-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R5885 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

92702928-92739138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 92713827 bp (GRCm39)

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]

AlphaFold

D3YWC7

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
Acot10	T	A	15: 20,666,190 (GRCm39)	M184L	probably benign	Het
Adgrv1	A	T	13: 81,572,390 (GRCm39)	S4924T	probably benign	Het
Atp10a	T	A	7: 58,463,548 (GRCm39)	M1027K	possibly damaging	Het
Axl	T	A	7: 25,466,277 (GRCm39)	K510I	probably damaging	Het
Azi2	T	A	9: 117,876,628 (GRCm39)	I48N	probably damaging	Het
Cysltr2	T	C	14: 73,266,931 (GRCm39)	K260E	probably benign	Het
Dnah3	T	C	7: 119,668,927 (GRCm39)	I720V	probably benign	Het
Dnah8	C	T	17: 31,013,691 (GRCm39)	P3811S	probably damaging	Het
Epas1	A	G	17: 87,134,972 (GRCm39)	D535G	probably damaging	Het
Fbxl3	A	T	14: 103,320,667 (GRCm39)	I260K	probably benign	Het
Fcgr3	A	G	1: 170,885,280 (GRCm39)	V115A	probably damaging	Het
Fgf12	G	T	16: 28,217,046 (GRCm39)	D98E	possibly damaging	Het
Flt3	T	C	5: 147,286,439 (GRCm39)	T716A	probably damaging	Het
Gad1-ps	G	A	10: 99,281,009 (GRCm39)		noncoding transcript	Het
Gpr141b	A	T	13: 19,913,519 (GRCm39)		noncoding transcript	Het
Grin2a	A	G	16: 9,579,769 (GRCm39)	Y165H	possibly damaging	Het
Ifna4	T	A	4: 88,760,599 (GRCm39)	W168R	probably damaging	Het
Itga11	A	G	9: 62,670,132 (GRCm39)	Y752C	probably damaging	Het
Khdrbs3	A	G	15: 68,896,547 (GRCm39)		probably null	Het
Kif24	A	T	4: 41,423,463 (GRCm39)	Y263N	probably damaging	Het
Lama5	G	T	2: 179,843,624 (GRCm39)	T441K	probably damaging	Het
Lrrc47	T	A	4: 154,100,429 (GRCm39)	V335D	possibly damaging	Het
Map1b	A	T	13: 99,566,589 (GRCm39)	I2044N	unknown	Het
Mast2	C	T	4: 116,172,035 (GRCm39)	G638S	probably damaging	Het
Myo9a	T	C	9: 59,778,503 (GRCm39)	S1420P	probably benign	Het
Neurl2	T	C	2: 164,674,811 (GRCm39)	T184A	probably damaging	Het
Nfatc3	A	G	8: 106,822,944 (GRCm39)	I577V	probably benign	Het
Nipal3	A	T	4: 135,199,288 (GRCm39)	V186E	probably damaging	Het
Pgbd5	G	A	8: 125,111,205 (GRCm39)	T162M	probably damaging	Het
Plod2	T	A	9: 92,488,709 (GRCm39)		probably null	Het
Psg22	T	A	7: 18,452,257 (GRCm39)	L19Q	probably damaging	Het
Psg27	T	A	7: 18,295,711 (GRCm39)	N245Y	probably damaging	Het
Ptprc	T	A	1: 138,016,246 (GRCm39)	I539F	probably damaging	Het
Rad1	T	C	15: 10,488,143 (GRCm39)	L59P	probably damaging	Het
Slc2a9	G	A	5: 38,598,017 (GRCm39)	R137W	probably damaging	Het
Spats2l	C	T	1: 57,985,321 (GRCm39)	A458V	probably damaging	Het
Sptbn5	A	G	2: 119,907,144 (GRCm39)		probably benign	Het
Stox1	C	A	10: 62,500,627 (GRCm39)	L644F	probably damaging	Het
Sv2b	C	T	7: 74,806,501 (GRCm39)	G213E	probably damaging	Het
Tas2r121	T	G	6: 132,677,254 (GRCm39)	L239F	probably damaging	Het
Trrap	T	A	5: 144,731,603 (GRCm39)	V854E	probably damaging	Het
Vmn2r97	A	G	17: 19,168,035 (GRCm39)	Y763C	possibly damaging	Het
Xkr6	T	A	14: 63,844,360 (GRCm39)	W128R	probably damaging	Het

Other mutations in Fam47e

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL00391:Fam47e	APN	5	92,727,522 (GRCm39)	missense	probably damaging	1.00
R0646:Fam47e	UTSW	5	92,726,317 (GRCm39)	intron	probably benign
R1170:Fam47e	UTSW	5	92,713,781 (GRCm39)	splice site	probably benign
R1216:Fam47e	UTSW	5	92,710,343 (GRCm39)	missense	probably damaging	0.99
R1926:Fam47e	UTSW	5	92,733,244 (GRCm39)	missense	possibly damaging	0.61
R3434:Fam47e	UTSW	5	92,733,221 (GRCm39)	missense	probably damaging	0.99
R3435:Fam47e	UTSW	5	92,733,221 (GRCm39)	missense	probably damaging	0.99
R4899:Fam47e	UTSW	5	92,722,528 (GRCm39)	missense	probably benign	0.23
R4925:Fam47e	UTSW	5	92,733,149 (GRCm39)	missense	probably damaging	1.00
R6060:Fam47e	UTSW	5	92,727,472 (GRCm39)	missense	possibly damaging	0.88
R6278:Fam47e	UTSW	5	92,710,376 (GRCm39)	missense	probably damaging	1.00
R6964:Fam47e	UTSW	5	92,713,911 (GRCm39)	missense	probably damaging	1.00
R7661:Fam47e	UTSW	5	92,735,384 (GRCm39)	missense	probably damaging	0.97
R7992:Fam47e	UTSW	5	92,722,541 (GRCm39)	missense	probably damaging	1.00
R8349:Fam47e	UTSW	5	92,702,990 (GRCm39)	missense	probably benign	0.27
R8449:Fam47e	UTSW	5	92,702,990 (GRCm39)	missense	probably benign	0.27
R9058:Fam47e	UTSW	5	92,719,367 (GRCm39)	start gained	probably benign
R9260:Fam47e	UTSW	5	92,735,384 (GRCm39)	missense	probably damaging	0.97
R9595:Fam47e	UTSW	5	92,726,395 (GRCm39)	missense	probably benign	0.00
R9596:Fam47e	UTSW	5	92,726,395 (GRCm39)	missense	probably benign	0.00
R9624:Fam47e	UTSW	5	92,726,395 (GRCm39)	missense	probably benign	0.00
Z1176:Fam47e	UTSW	5	92,727,527 (GRCm39)	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