Mutagenetix > Incidental Mutation

Incidental Mutation 'R6964:Fam47e'

541873

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

LOC384198, Gm1381

MMRRC Submission

045074-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6964 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

92702928-92739138 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 92713911 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Glutamine to Leucine at position 180 (Q180L)

Ref Sequence

ENSEMBL: ENSMUSP00000115229 (fasta)

Gene Model

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

AlphaFold

D3YWC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000146417
AA Change: Q180L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: Q180L

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

Predicted Effect

probably benign
Transcript: ENSMUST00000149617

Meta Mutation Damage Score

0.3273

Coding Region Coverage

1x: 100.0%
3x: 99.9%
10x: 99.4%
20x: 97.9%

Validation Efficiency

Allele List at MGI

Other mutations in this stock

Total: 59 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
A630089N07Rik	A	T	16: 97,866,959 (GRCm39)	Y334*	probably null	Het
Abcc2	A	C	19: 43,786,515 (GRCm39)	I116L	probably benign	Het
Adamts17	T	A	7: 66,559,148 (GRCm39)	Y313N	possibly damaging	Het
Adamts17	A	G	7: 66,654,101 (GRCm39)	T444A	probably benign	Het
Adamtsl1	A	G	4: 86,075,091 (GRCm39)	I153V	probably damaging	Het
Ambra1	C	T	2: 91,747,761 (GRCm39)	Q1046*	probably null	Het
Ap1g2	A	T	14: 55,336,722 (GRCm39)	V750D	possibly damaging	Het
Bcl7a	T	C	5: 123,507,519 (GRCm39)		probably null	Het
C4bp	A	T	1: 130,585,009 (GRCm39)	L9Q	probably damaging	Het
Cadps2	A	C	6: 23,583,458 (GRCm39)	V344G	probably damaging	Het
Car7	A	G	8: 105,270,213 (GRCm39)	D15G	possibly damaging	Het
Cep126	G	C	9: 8,112,101 (GRCm39)	H157Q	probably null	Het
Chst11	C	T	10: 83,027,215 (GRCm39)	T214I	probably damaging	Het
Cntrob	G	A	11: 69,200,317 (GRCm39)	R526*	probably null	Het
Cul1	A	G	6: 47,493,443 (GRCm39)	T445A	probably benign	Het
Dclre1c	T	C	2: 3,454,206 (GRCm39)	V363A	possibly damaging	Het
Dock10	T	A	1: 80,481,365 (GRCm39)		probably benign	Het
Donson	A	G	16: 91,478,107 (GRCm39)	Y465H	probably benign	Het
Eif3e	G	A	15: 43,135,685 (GRCm39)	A118V	probably benign	Het
Fat1	T	G	8: 45,496,982 (GRCm39)	C4156G	probably damaging	Het
Fermt2	A	T	14: 45,702,599 (GRCm39)	I441K	probably damaging	Het
Frmd4b	C	T	6: 97,282,158 (GRCm39)	R510Q	probably damaging	Het
Fscn1	C	T	5: 142,946,415 (GRCm39)	A71V	probably damaging	Het
Gfap	G	A	11: 102,787,783 (GRCm39)	A54V	possibly damaging	Het
Gjc3	C	T	5: 137,955,759 (GRCm39)	M175I	probably benign	Het
Gm10645	C	T	8: 83,892,581 (GRCm39)		probably benign	Het
Haus5	G	A	7: 30,357,040 (GRCm39)	P464S	probably benign	Het
Helz2	T	A	2: 180,872,221 (GRCm39)	I2584F	probably damaging	Het
Mak	T	A	13: 41,186,067 (GRCm39)	I534L	probably benign	Het
Map3k9	T	C	12: 81,819,777 (GRCm39)	D159G	probably benign	Het
Mcat	A	G	15: 83,432,132 (GRCm39)		probably benign	Het
Meltf	A	G	16: 31,698,980 (GRCm39)	D30G	probably benign	Het
Ntng2	T	A	2: 29,087,041 (GRCm39)	Y452F	probably benign	Het
Or10ag60	T	C	2: 87,437,957 (GRCm39)	L75P	probably damaging	Het
Or4a72	T	A	2: 89,405,333 (GRCm39)	I246F	probably benign	Het
Or5b118	T	A	19: 13,448,725 (GRCm39)	Y130*	probably null	Het
Or5p53	A	T	7: 107,532,966 (GRCm39)	I80L	probably benign	Het
Paip1	C	T	13: 119,587,306 (GRCm39)	T390I	possibly damaging	Het
Pianp	T	A	6: 124,976,353 (GRCm39)	V54D	possibly damaging	Het
Ptprn	T	C	1: 75,237,293 (GRCm39)	D103G	possibly damaging	Het
Rhcg	A	G	7: 79,250,279 (GRCm39)	V268A	probably benign	Het
Rhoj	T	A	12: 75,422,163 (GRCm39)	Y74N	probably damaging	Het
Rigi	A	G	4: 40,225,697 (GRCm39)	S235P	probably benign	Het
Snx13	A	C	12: 35,169,788 (GRCm39)	T578P	possibly damaging	Het
Star	T	A	8: 26,301,851 (GRCm39)	H227Q	probably benign	Het
Stau2	A	C	1: 16,460,229 (GRCm39)	M204R	probably damaging	Het
Steap4	A	G	5: 8,025,568 (GRCm39)	Y43C	probably damaging	Het
Syt8	A	G	7: 141,993,158 (GRCm39)	E21G	probably benign	Het
Tacr3	T	C	3: 134,535,500 (GRCm39)	V156A	probably damaging	Het
Tmem106b	C	T	6: 13,082,422 (GRCm39)	T199M	probably benign	Het
Tmem131	T	C	1: 36,835,373 (GRCm39)	T1583A	probably damaging	Het
Tom1	G	A	8: 75,778,593 (GRCm39)	V87I	probably null	Het
Treml4	G	T	17: 48,579,847 (GRCm39)		probably null	Het
Ttn	T	C	2: 76,544,457 (GRCm39)	K32843R	probably damaging	Het
Wdr95	T	G	5: 149,505,315 (GRCm39)	C223W	probably damaging	Het
Wipi1	C	T	11: 109,494,590 (GRCm39)	R81Q	probably benign	Het
Zc3h7a	G	A	16: 10,967,088 (GRCm39)	T568I	probably benign	Het
Zfp287	A	T	11: 62,615,643 (GRCm39)	I228N	probably damaging	Het
Zfp606	T	A	7: 12,223,519 (GRCm39)	V10E	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
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
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'- AGAATTGGGGCCCCTTTTCTC -3'
(R):5'- TGCCACTGCTAGAGAAACGAAC -3'

Sequencing Primer
(F):5'- GGGGCCCCTTTTCTCCAATTG -3'
(R):5'- AGTTTTCTAGATACCCAGGCATGGC -3'

Posted On

2018-11-28