Incidental Mutation 'R6060:Fam47e'
ID483183
Institutional Source Beutler Lab
Gene Symbol Fam47e
Ensembl Gene ENSMUSG00000057068
Gene Namefamily with sequence similarity 47, member E
SynonymsGm1381, LOC384198
MMRRC Submission
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #R6060 (G1)
Quality Score225.009
Status Validated
Chromosome5
Chromosomal Location92555069-92591279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 92579613 bp
ZygosityHeterozygous
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]
Predicted Effect probably benign
Transcript: ENSMUST00000082382
SMART Domains Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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

DomainStartEndE-ValueType
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 question?
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
GeneRefVarChr/LocMutationPredicted EffectZygosity
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
AlleleSourceChrCoordTypePredicted EffectPPH 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
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 On2017-07-14