Incidental Mutation 'R3434:Fam47e'
ID 266343
Institutional Source Beutler Lab
Gene Symbol Fam47e
Ensembl Gene ENSMUSG00000057068
Gene Name family with sequence similarity 47, member E
Synonyms LOC384198, Gm1381
MMRRC Submission 040652-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R3434 (G1)
Quality Score 225
Status Validated
Chromosome 5
Chromosomal Location 92702928-92739138 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 92733221 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Aspartic acid at position 152 (V152D)
Ref Sequence ENSEMBL: ENSMUSP00000135051 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000082382] [ENSMUST00000131166] [ENSMUST00000146417] [ENSMUST00000175974] [ENSMUST00000176448] [ENSMUST00000176621]
AlphaFold D3YWC7
Predicted Effect possibly damaging
Transcript: ENSMUST00000082382
AA Change: V125D

PolyPhen 2 Score 0.551 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000080987
Gene: ENSMUSG00000057068
AA Change: V125D

DomainStartEndE-ValueType
low complexity region 136 150 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000131166
AA Change: V186D

PolyPhen 2 Score 0.513 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000118033
Gene: ENSMUSG00000057068
AA Change: V186D

DomainStartEndE-ValueType
low complexity region 197 211 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000146417
AA Change: V328D

PolyPhen 2 Score 0.373 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000115229
Gene: ENSMUSG00000057068
AA Change: V328D

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 damaging
Transcript: ENSMUST00000176448
AA Change: V152D

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
Predicted Effect probably benign
Transcript: ENSMUST00000176621
Meta Mutation Damage Score 0.2573 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.3%
Validation Efficiency 98% (54/55)
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 G A 17: 24,508,511 (GRCm39) A1008V probably damaging Het
Adora3 A G 3: 105,812,231 (GRCm39) K39R probably benign Het
Ankib1 A G 5: 3,742,760 (GRCm39) V1085A probably damaging Het
Atp7a G A X: 105,138,463 (GRCm39) R563K probably benign Het
Azin1 T C 15: 38,493,820 (GRCm39) I268V probably benign Het
Carm1 T C 9: 21,480,769 (GRCm39) F81S probably damaging Het
Ccnjl A G 11: 43,470,688 (GRCm39) Y152C probably damaging Het
Chrna3 T A 9: 54,931,610 (GRCm39) I61F possibly damaging Het
Clca3a2 G A 3: 144,514,522 (GRCm39) probably benign Het
Clstn2 T A 9: 97,336,768 (GRCm39) D903V probably benign Het
Dpysl3 C T 18: 43,494,126 (GRCm39) V70I probably benign Het
Drg2 A T 11: 60,352,218 (GRCm39) K180* probably null Het
Dync2h1 A C 9: 7,011,236 (GRCm39) H3659Q probably benign Het
Dysf A T 6: 84,047,870 (GRCm39) Y349F probably benign Het
Epb41l4b T C 4: 57,040,865 (GRCm39) N533D probably benign Het
Fasn G A 11: 120,713,599 (GRCm39) A24V probably damaging Het
Fhl4 T C 10: 84,934,308 (GRCm39) T158A probably benign Het
Fnbp1l C T 3: 122,339,955 (GRCm39) R499Q probably damaging Het
Hdlbp A T 1: 93,355,883 (GRCm39) M358K probably benign Het
Ift74 A G 4: 94,510,089 (GRCm39) probably null Het
Lhx4 A G 1: 155,578,147 (GRCm39) Y332H probably damaging Het
Mast2 A T 4: 116,165,292 (GRCm39) S1314T probably benign Het
Mast4 A G 13: 102,923,887 (GRCm39) I508T probably damaging Het
Mdn1 T C 4: 32,733,726 (GRCm39) probably null Het
Mrps23 A G 11: 88,100,940 (GRCm39) K44E probably damaging Het
Mslnl G A 17: 25,961,908 (GRCm39) V128M probably damaging Het
Mup6 G T 4: 60,004,116 (GRCm39) probably null Het
Notch3 A T 17: 32,377,592 (GRCm39) D161E possibly damaging Het
Or2ag13 A T 7: 106,472,976 (GRCm39) Y159N probably benign Het
Or4a67 T C 2: 88,598,413 (GRCm39) D82G probably damaging Het
Or5w11 T C 2: 87,459,418 (GRCm39) F204L probably benign Het
P2rx4 T A 5: 122,863,133 (GRCm39) I202K probably damaging Het
Phykpl A G 11: 51,489,482 (GRCm39) T363A probably benign Het
Pitpnm1 G A 19: 4,162,234 (GRCm39) A1047T probably damaging Het
Ppat A G 5: 77,065,912 (GRCm39) I402T probably damaging Het
Rpgr A G X: 10,042,841 (GRCm39) S656P probably benign Het
Rsbn1l T C 5: 21,110,928 (GRCm39) probably benign Het
Sacs A G 14: 61,449,752 (GRCm39) K3933E probably damaging Het
Scn7a T C 2: 66,505,847 (GRCm39) I1681V probably benign Het
Sel1l3 T C 5: 53,274,432 (GRCm39) D1016G probably benign Het
Sf3a3 C A 4: 124,618,870 (GRCm39) T277N possibly damaging Het
Slc35a5 A G 16: 44,964,396 (GRCm39) I279T probably benign Het
Slc39a10 T C 1: 46,874,877 (GRCm39) T142A probably benign Het
Tle3 T A 9: 61,321,376 (GRCm39) probably null Het
Tmem117 T C 15: 94,992,573 (GRCm39) I411T probably damaging Het
Ttn T C 2: 76,698,721 (GRCm39) T5A possibly damaging Het
Tubgcp3 T C 8: 12,708,381 (GRCm39) probably null Het
Ush2a C T 1: 188,465,955 (GRCm39) P2841L probably damaging Het
Vmn1r209 A T 13: 22,990,267 (GRCm39) M141K probably benign Het
Vmn2r91 A T 17: 18,330,370 (GRCm39) probably benign Het
Other mutations in Fam47e
AlleleSourceChrCoordTypePredicted EffectPPH 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
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
R6964:Fam47e UTSW 5 92,713,911 (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'- TCATACCGTGAGCCTTTGATATTTG -3'
(R):5'- AGGCAGAATTCAAGCCTTGC -3'

Sequencing Primer
(F):5'- CCGTGAGCCTTTGATATTTGAAACG -3'
(R):5'- ACATCCTCTCCACAAATCATCTTG -3'
Posted On 2015-02-18