Incidental Mutation 'IGL00391:Fam47e'
ID5587
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam47e
Ensembl Gene ENSMUSG00000057068
Gene Namefamily with sequence similarity 47, member E
SynonymsGm1381, LOC384198
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00391
Quality Score
Status
Chromosome5
Chromosomal Location92555069-92591279 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 92579663 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 143 (E143D)
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 probably damaging
Transcript: ENSMUST00000131166
AA Change: E143D

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: E143D

DomainStartEndE-ValueType
low complexity region 197 211 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000146417
AA Change: E285D

PolyPhen 2 Score 0.972 (Sensitivity: 0.77; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: E285D

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 possibly damaging
Transcript: ENSMUST00000176448
AA Change: E109D

PolyPhen 2 Score 0.853 (Sensitivity: 0.83; Specificity: 0.93)
Predicted Effect probably benign
Transcript: ENSMUST00000176621
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 25 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrl3 G A 5: 81,724,224 V990M probably damaging Het
Ap4b1 A G 3: 103,821,542 T499A probably benign Het
Cacna2d4 T C 6: 119,337,933 probably benign Het
Ccr5 T A 9: 124,124,406 D15E possibly damaging Het
Clca4b A G 3: 144,915,561 V584A possibly damaging Het
Cmtr1 T C 17: 29,674,262 M85T probably damaging Het
Col6a3 T A 1: 90,828,255 H104L probably damaging Het
Coq9 A T 8: 94,850,517 K170M probably damaging Het
Elmod1 A G 9: 53,924,398 probably null Het
Faxc A G 4: 21,948,725 K146E probably damaging Het
Gm5346 A T 8: 43,625,629 F519L probably damaging Het
Hrasls5 A T 19: 7,619,266 probably benign Het
Myo7b A C 18: 32,021,556 probably benign Het
Nmur1 G A 1: 86,386,471 R381C probably damaging Het
Nsd2 T G 5: 33,855,733 D469E probably damaging Het
Osbpl6 G A 2: 76,590,439 C786Y probably damaging Het
Osgin2 T C 4: 16,006,439 Y85C probably damaging Het
Otof A G 5: 30,375,623 C1587R probably damaging Het
Plekha2 A G 8: 25,057,327 V247A probably damaging Het
Plppr5 A T 3: 117,671,943 N281I possibly damaging Het
Popdc3 A G 10: 45,317,826 probably null Het
Ppp1r12a A G 10: 108,198,848 N85D probably damaging Het
Serpinb8 A G 1: 107,606,984 S262G probably benign Het
Sspo G A 6: 48,497,386 G4780R probably damaging Het
Ush2a A G 1: 188,916,061 E4621G probably damaging Het
Other mutations in Fam47e
AlleleSourceChrCoordTypePredicted EffectPPH Score
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
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
Posted On2012-04-20