Mutagenetix > Incidental Mutation

Incidental Mutation 'R6060:Fam47e'

483183

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

Gm1381, LOC384198

MMRRC Submission

Accession Numbers

Is this an essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6060 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

92555069-92591279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to A at 92579613 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Phenylalanine to Isoleucine at position 127 (F127I)

Ref Sequence

ENSEMBL: ENSMUSP00000118033 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000082382] [ENSMUST00000131166] [ENSMUST00000146417] [ENSMUST00000175974] [ENSMUST00000176448] [ENSMUST00000176621]

AlphaFold

D3YWC7

Predicted Effect

probably benign
Transcript: ENSMUST00000082382

SMART Domains

Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068

Domain	Start	End	E-Value	Type
low complexity region	136	150	N/A	INTRINSIC

Predicted Effect

possibly damaging
Transcript: ENSMUST00000131166
AA Change: F127I

PolyPhen 2 Score 0.881 (Sensitivity: 0.82; Specificity: 0.94)

SMART Domains

Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: F127I

Domain	Start	End	E-Value	Type
low complexity region	197	211	N/A	INTRINSIC

Predicted Effect

probably benign
Transcript: ENSMUST00000146417
AA Change: F269I

PolyPhen 2 Score 0.253 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: F269I

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

Predicted Effect

probably benign
Transcript: ENSMUST00000175974

Predicted Effect

probably benign
Transcript: ENSMUST00000176448
AA Change: F93I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)

Predicted Effect

probably benign
Transcript: ENSMUST00000176621

Meta Mutation Damage Score

0.1795

Coding Region Coverage

1x: 99.9%
3x: 99.6%
10x: 97.9%
20x: 93.6%

Validation Efficiency

100% (56/56)

Allele List at MGI

Other mutations in this stock

Total: 41 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1110057P08Rik	A	G	16: 89,169,742		probably null	Het
Adh1	T	C	3: 138,286,783	I220T	probably damaging	Het
Ajap1	G	A	4: 153,432,242	T214I	probably damaging	Het
Ank2	A	G	3: 126,955,952	F476S	probably damaging	Het
Atp6v1g3	A	G	1: 138,273,844	K27E	possibly damaging	Het
B230118H07Rik	T	C	2: 101,610,605	K18E	probably benign	Het
BC034090	A	G	1: 155,241,499	I291T	probably benign	Het
Cnot9	T	A	1: 74,517,126	N27K	probably benign	Het
Cyp2c70	A	T	19: 40,165,413	L244*	probably null	Het
Cyp2d22	T	C	15: 82,375,885	T6A	probably benign	Het
D630045J12Rik	T	C	6: 38,130,864	E1829G	probably damaging	Het
Dnajc4	G	T	19: 6,990,725	S61*	probably null	Het
Dpysl4	A	G	7: 139,089,408	M1V	probably null	Het
Fam149a	T	A	8: 45,358,762		probably benign	Het
Fam184b	T	C	5: 45,553,147	E547G	probably damaging	Het
Ifi207	G	A	1: 173,730,527	T215I	unknown	Het
Lpxn	T	C	19: 12,833,125	L311P	probably damaging	Het
Lrp1b	A	T	2: 40,750,934	N3499K		Het
Mknk2	A	T	10: 80,671,634	D76E	probably benign	Het
Nectin2	A	T	7: 19,717,775	Y445N	probably damaging	Het
Ngb	A	C	12: 87,100,189	S85A	probably benign	Het
Nrp1	C	A	8: 128,497,938	H727Q	probably damaging	Het
Olfr1466	C	T	19: 13,342,133	A125V	probably benign	Het
Olfr420	C	A	1: 174,159,341	C189*	probably null	Het
Pold3	A	C	7: 100,100,612	Y115*	probably null	Het
Ppp1r12b	C	G	1: 134,955,524	V87L	probably benign	Het
Ppp1r26	A	G	2: 28,451,030	N224S	probably benign	Het
Prl7a1	G	A	13: 27,637,588	P122S	probably damaging	Het
Rc3h2	T	C	2: 37,399,600	H400R	possibly damaging	Het
Rnf32	A	T	5: 29,206,754	I214L	probably benign	Het
Safb2	A	T	17: 56,563,246		probably null	Het
Serpinb6e	A	G	13: 33,841,273	C12R	possibly damaging	Het
Sh2b2	A	T	5: 136,232,355	N2K	possibly damaging	Het
Slc12a4	G	A	8: 105,945,706	A821V	probably damaging	Het
Slc41a1	A	G	1: 131,840,234	M179V	probably benign	Het
Slc9a3	A	G	13: 74,150,885	Y141C	probably damaging	Het
Tenm4	G	A	7: 96,873,711	V1450I	probably damaging	Het
Trmt1l	A	G	1: 151,457,580	N642S	possibly damaging	Het
Ttll13	G	A	7: 80,258,743	R576H	probably damaging	Het
Zar1	T	A	5: 72,580,929	R43S	probably benign	Het
Zfp455	A	G	13: 67,207,193	Y175C	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
R5885:Fam47e	UTSW	5	92565968	missense	probably damaging	0.97
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
R9058:Fam47e	UTSW	5	92571508	start gained	probably benign
R9260:Fam47e	UTSW	5	92587525	missense	probably damaging	0.97
R9595:Fam47e	UTSW	5	92578536	missense	not run
R9596:Fam47e	UTSW	5	92578536	missense	not run
Z1176:Fam47e	UTSW	5	92579668	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- GTTAATCTCATGCCCAAGGAATTC -3'
(R):5'- ACGCTGATGCAACTCTTCC -3'

Sequencing Primer
(F):5'- CCTGGTCTACAAAGTGAGTTCCAG -3'
(R):5'- GCTGATGCAACTCTTCCTTCTTCTG -3'

Posted On

2017-07-14