Mutagenetix > Incidental Mutation

Incidental Mutation 'R6278:Fam47e'

507773

Institutional Source

Beutler Lab

Gene Symbol

Fam47e

Ensembl Gene

ENSMUSG00000057068

Gene Name

family with sequence similarity 47, member E

Synonyms

Gm1381, LOC384198

MMRRC Submission

044448-MU

Accession Numbers

Essential gene?

Non essential (E-score: 0.000) question?

Stock #

R6278 (G1)

Quality Score

192.009

Status

Validated

Chromosome

Chromosomal Location

92555069-92591279 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 92562517 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Leucine to Proline at position 125 (L125P)

Ref Sequence

ENSEMBL: ENSMUSP00000115229 (fasta)

Gene Model

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

AlphaFold

D3YWC7

Predicted Effect

probably damaging
Transcript: ENSMUST00000146417
AA Change: L125P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)

SMART Domains

Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: L125P

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

0.6329

Coding Region Coverage

1x: 99.9%
3x: 99.5%
10x: 97.8%
20x: 93.6%

Validation Efficiency

100% (49/49)

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	C	7: 119,773,849	S192P	probably damaging	Het
Amy1	T	A	3: 113,561,690	Y348F	probably damaging	Het
Brpf3	C	A	17: 28,821,284	P893H	probably benign	Het
Cage1	T	C	13: 38,016,419	T702A	possibly damaging	Het
Cdk11b	A	G	4: 155,649,603		probably benign	Het
Cdk5rap3	T	C	11: 96,911,903	Y207C	probably damaging	Het
Cenpc1	T	C	5: 86,035,535	K465R	probably damaging	Het
Cldn14	A	C	16: 93,919,598	L120R	possibly damaging	Het
Cyp2c69	A	T	19: 39,843,063	C435*	probably null	Het
Dmxl2	T	A	9: 54,415,762	E1446V	probably damaging	Het
Dnah17	T	A	11: 118,126,290	D208V	probably damaging	Het
Eif4g3	G	T	4: 138,188,083	G1430V	possibly damaging	Het
Eif5	T	A	12: 111,542,793	D284E	probably benign	Het
Far1	A	G	7: 113,568,137	I476M	probably benign	Het
Fsip2	A	T	2: 82,988,898	I4992L	probably benign	Het
Gli3	T	A	13: 15,725,113	N1028K	possibly damaging	Het
Gm13128	C	T	4: 144,330,267	P7S	probably damaging	Het
Gucy1a1	T	C	3: 82,097,634	K615E	probably damaging	Het
Gykl1	G	T	18: 52,695,208	S496I	probably benign	Het
Hmcn1	C	T	1: 150,697,419		probably null	Het
Itga2	T	A	13: 114,845,888	H1027L	probably benign	Het
Kif24	A	T	4: 41,423,498	V251E	probably damaging	Het
Nupr1	T	C	7: 126,625,346	Y30C	probably damaging	Het
Olfr1137	A	T	2: 87,711,471	L145*	probably null	Het
Olfr1475	T	A	19: 13,479,755	M148L	probably benign	Het
Olfr943	T	A	9: 39,184,298	I40N	probably damaging	Het
Olfr998	A	G	2: 85,590,998	I153V	probably benign	Het
P2ry1	T	A	3: 61,003,794	I118N	possibly damaging	Het
Pcdh1	C	T	18: 38,199,210	V247M	probably benign	Het
Pdia5	A	G	16: 35,429,923	V222A	possibly damaging	Het
Plce1	G	A	19: 38,725,051		probably null	Het
Ppm1m	T	C	9: 106,197,228	R239G	probably damaging	Het
Prkcz	A	T	4: 155,268,195	F492I	probably damaging	Het
Rpl6	T	C	5: 121,208,849	I269T	possibly damaging	Het
Scoc	T	C	8: 83,458,336	S2G	unknown	Het
Spesp1	A	T	9: 62,272,639	M329K	probably benign	Het
Ston2	T	C	12: 91,648,330	K435E	probably damaging	Het
Synj2	A	T	17: 5,975,874	L69F	probably damaging	Het
Tigd5	T	C	15: 75,909,993	I68T	probably damaging	Het
Tmcc2	A	T	1: 132,358,982	M577K	probably damaging	Het
Tmem131l	A	T	3: 83,942,491	I263N	possibly damaging	Het
Trip13	T	C	13: 73,913,320	E408G	probably benign	Het
Txnl4b	T	C	8: 109,569,103		probably null	Het
Ube2o	T	C	11: 116,539,543	E1123G	probably damaging	Het
Vmn1r123	A	G	7: 21,162,849	H222R	possibly damaging	Het
Vmn2r73	G	T	7: 85,872,932	H66Q	probably benign	Het
Zc3h13	T	A	14: 75,330,423	V1052D	probably benign	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
R6060:Fam47e	UTSW	5	92579613	missense	possibly damaging	0.88
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	probably benign	0.00
R9596:Fam47e	UTSW	5	92578536	missense	probably benign	0.00
R9624:Fam47e	UTSW	5	92578536	missense	probably benign	0.00
Z1176:Fam47e	UTSW	5	92579668	missense	possibly damaging	0.86

Predicted Primers

PCR Primer
(F):5'- TTCTTGAACAGCCGGCACTG -3'
(R):5'- AAAAGAAGGCTGCCCTGAGC -3'

Sequencing Primer
(F):5'- GGATAACTTCAGGAAAGACTGCCC -3'
(R):5'- CTGAGCTGGTAAAAAGCCTTCACTG -3'

Posted On

2018-03-15