Mutagenetix > Incidental Mutation

Incidental Mutation 'R8349:Fam47e'

645414

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

LOC384198, Gm1381

MMRRC Submission

067803-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R8349 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92702928-92739138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to A at 92702990 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Serine at position 21 (R21S)

Ref Sequence

ENSEMBL: ENSMUSP00000115229 (fasta)

Gene Model

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

AlphaFold

D3YWC7

Predicted Effect

probably benign
Transcript: ENSMUST00000146417
AA Change: R21S

PolyPhen 2 Score 0.270 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: R21S

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

Predicted Effect

Coding Region Coverage

1x: 100.0%
3x: 100.0%
10x: 99.7%
20x: 98.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Ace3	A	G	11: 105,885,768 (GRCm39)	E58G	probably damaging	Het
Ank1	T	A	8: 23,629,302 (GRCm39)	F4I	possibly damaging	Het
Arih2	T	C	9: 108,488,872 (GRCm39)	D282G	possibly damaging	Het
Atp7b	C	T	8: 22,503,556 (GRCm39)	V733I	probably damaging	Het
Avil	A	G	10: 126,845,861 (GRCm39)	D370G	probably benign	Het
Ccdc88b	T	C	19: 6,833,213 (GRCm39)	E278G	probably damaging	Het
Cdkl3	A	G	11: 51,975,260 (GRCm39)	H74R		Het
Clec9a	C	A	6: 129,387,292 (GRCm39)	A49E	probably damaging	Het
Cntn5	A	G	9: 9,666,840 (GRCm39)		probably null	Het
Cyp11b2	A	G	15: 74,723,428 (GRCm39)	M412T	possibly damaging	Het
Dhrs7l	T	C	12: 72,659,340 (GRCm39)	N145D	probably damaging	Het
Dync1i1	A	G	6: 5,966,815 (GRCm39)	Q399R	possibly damaging	Het
Gimap4	A	G	6: 48,667,694 (GRCm39)	I150V	probably damaging	Het
Gm7361	T	A	5: 26,465,387 (GRCm39)	M128K	possibly damaging	Het
Gtf3c3	C	T	1: 54,468,068 (GRCm39)	E190K	probably damaging	Het
Hells	T	C	19: 38,940,286 (GRCm39)	S396P	probably damaging	Het
Hrg	T	A	16: 22,780,286 (GRCm39)	S521R	unknown	Het
Itih5	A	G	2: 10,191,800 (GRCm39)	T112A	probably benign	Het
Ly9	T	A	1: 171,421,586 (GRCm39)	N555I	probably damaging	Het
Morc2b	C	T	17: 33,355,775 (GRCm39)	E666K	probably benign	Het
Mup8	C	A	4: 60,222,382 (GRCm39)	V30L	probably benign	Het
Nebl	T	A	2: 17,418,593 (GRCm39)	E268D	probably damaging	Het
Nr4a3	G	T	4: 48,052,170 (GRCm39)	R308L	probably benign	Het
Or10k2	A	T	8: 84,268,301 (GRCm39)	H176L	probably damaging	Het
Or14j1	A	G	17: 38,146,561 (GRCm39)	R224G	probably damaging	Het
Or4c10	A	T	2: 89,760,878 (GRCm39)	I242L	possibly damaging	Het
Or6d14	G	T	6: 116,534,289 (GRCm39)	R301L	probably damaging	Het
Or8k33	T	G	2: 86,383,980 (GRCm39)	I163L	probably benign	Het
Plcd3	A	G	11: 102,965,496 (GRCm39)	Y530H	probably damaging	Het
Pou2af1	A	T	9: 51,144,326 (GRCm39)	E80V	probably damaging	Het
Scgb2b18	C	T	7: 32,872,656 (GRCm39)	D50N	probably benign	Het
Sis	C	T	3: 72,810,984 (GRCm39)	G1679D	probably damaging	Het
Sorcs2	A	T	5: 36,386,519 (GRCm39)	M173K	possibly damaging	Het
Ston2	T	C	12: 91,608,649 (GRCm39)	D817G	probably damaging	Het
Ticrr	T	A	7: 79,344,428 (GRCm39)	F1431Y	probably benign	Het
Uevld	T	A	7: 46,595,055 (GRCm39)	N179I	probably damaging	Het
Utp6	G	T	11: 79,836,610 (GRCm39)	Q375K	probably benign	Het
Vmn2r68	T	A	7: 84,882,785 (GRCm39)	E322D	probably damaging	Het
Wnt5a	A	G	14: 28,235,108 (GRCm39)	M51V	probably benign	Het
Zfp202	A	T	9: 40,118,976 (GRCm39)	R130*	probably null	Het
Zfp949	G	T	9: 88,449,302 (GRCm39)	V36L	possibly 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
R5885:Fam47e	UTSW	5	92,713,827 (GRCm39)	missense	probably damaging	0.97
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
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'- GGCCAGTTTTATACCTCCAGC -3'
(R):5'- ACTGGAAAGGCTGTGTTGC -3'

Sequencing Primer
(F):5'- CCAGCTATAGATTGTCAGTCTAGTC -3'
(R):5'- AAAGGCTGTGTTGCTCCAG -3'

Posted On

2020-09-02