Incidental Mutation 'IGL03028:Fam78a'
ID 408296
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam78a
Ensembl Gene ENSMUSG00000050592
Gene Name family with sequence similarity 78, member A
Synonyms A130092J06Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.060) question?
Stock # IGL03028
Quality Score
Status
Chromosome 2
Chromosomal Location 31940067-31974869 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 31972894 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 9 (W9R)
Ref Sequence ENSEMBL: ENSMUSP00000115010 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056406] [ENSMUST00000139629]
AlphaFold Q8C552
Predicted Effect possibly damaging
Transcript: ENSMUST00000056406
AA Change: W9R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130178
Predicted Effect possibly damaging
Transcript: ENSMUST00000139629
AA Change: W9R

PolyPhen 2 Score 0.801 (Sensitivity: 0.84; Specificity: 0.93)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143795
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat1 A C 9: 53,506,062 (GRCm39) V86G probably benign Het
Adgra3 A T 5: 50,174,194 (GRCm39) W115R probably benign Het
Ahr G A 12: 35,554,709 (GRCm39) A470V probably benign Het
Aoah A T 13: 21,000,752 (GRCm39) Q62L possibly damaging Het
Arhgef12 A T 9: 42,937,524 (GRCm39) D100E possibly damaging Het
Asic1 A G 15: 99,570,038 (GRCm39) N120D probably benign Het
Atp2b2 A G 6: 113,736,103 (GRCm39) L988P probably damaging Het
Atxn2 T A 5: 121,948,972 (GRCm39) H789Q probably damaging Het
Clk1 G T 1: 58,460,261 (GRCm39) S123* probably null Het
Col10a1 C T 10: 34,271,012 (GRCm39) A328V probably benign Het
Col26a1 G T 5: 136,771,972 (GRCm39) D415E possibly damaging Het
Ctla2a A G 13: 61,083,273 (GRCm39) probably benign Het
Cwf19l2 A G 9: 3,430,622 (GRCm39) E318G probably benign Het
Dnajc16 C T 4: 141,495,043 (GRCm39) W523* probably null Het
Ehhadh T C 16: 21,581,144 (GRCm39) E616G probably damaging Het
F5 A T 1: 164,020,569 (GRCm39) K1015* probably null Het
Frs2 A T 10: 116,909,838 (GRCm39) M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 (GRCm38) M200L probably benign Het
Gm44511 T C 6: 128,757,358 (GRCm39) S179G probably damaging Het
Gpr25 G A 1: 136,188,550 (GRCm39) S21L probably benign Het
Hsdl2 A G 4: 59,594,471 (GRCm39) D34G probably damaging Het
Kcnt1 A G 2: 25,799,215 (GRCm39) probably null Het
Kl A G 5: 150,915,015 (GRCm39) Y914C probably damaging Het
Map3k3 T G 11: 106,001,577 (GRCm39) V45G probably damaging Het
Mppe1 A C 18: 67,360,755 (GRCm39) C261W probably damaging Het
Nin T C 12: 70,082,044 (GRCm39) T1640A probably benign Het
Or51a8 T A 7: 102,550,036 (GRCm39) I154N possibly damaging Het
Or51ac3 A G 7: 103,213,796 (GRCm39) probably null Het
Or5c1 C T 2: 37,221,968 (GRCm39) L70F probably damaging Het
Or5p59 T A 7: 107,703,380 (GRCm39) M288K probably damaging Het
Or7g26 A T 9: 19,230,664 (GRCm39) Y284F probably damaging Het
Oxr1 A G 15: 41,680,559 (GRCm39) N166D probably damaging Het
Pank4 T A 4: 155,054,442 (GRCm39) probably benign Het
Pgd A G 4: 149,246,084 (GRCm39) probably null Het
Pitrm1 C T 13: 6,624,429 (GRCm39) H831Y probably benign Het
Pkd1l2 G A 8: 117,792,484 (GRCm39) T436I probably benign Het
Rad51 A C 2: 118,946,795 (GRCm39) M1L possibly damaging Het
Recql5 G T 11: 115,785,257 (GRCm39) S746R possibly damaging Het
Rhbdl3 C T 11: 80,214,287 (GRCm39) Q133* probably null Het
Rpp40 A T 13: 36,088,494 (GRCm39) L59Q probably damaging Het
Rtca C A 3: 116,286,741 (GRCm39) probably benign Het
Rtkn C T 6: 83,124,853 (GRCm39) Q108* probably null Het
Shoc1 A C 4: 59,094,274 (GRCm39) I150S possibly damaging Het
Sirt6 C T 10: 81,463,375 (GRCm39) probably benign Het
Slc9a4 G A 1: 40,649,537 (GRCm39) V517M probably benign Het
Smarca2 G T 19: 26,655,712 (GRCm39) probably benign Het
Snx33 A T 9: 56,833,735 (GRCm39) D111E probably benign Het
Tgfb1 T C 7: 25,403,621 (GRCm39) I311T probably damaging Het
Tgfb2 C T 1: 186,362,806 (GRCm39) probably null Het
Tmem232 T C 17: 65,563,384 (GRCm39) T670A probably benign Het
Tnfsf4 T C 1: 161,223,213 (GRCm39) F21L possibly damaging Het
Ubr5 T C 15: 38,047,837 (GRCm39) T47A probably benign Het
Unc79 T C 12: 103,139,785 (GRCm39) V2515A possibly damaging Het
Utp6 T C 11: 79,844,450 (GRCm39) K192E probably damaging Het
Vmn2r102 T C 17: 19,914,328 (GRCm39) F631S possibly damaging Het
Zfp516 A C 18: 82,974,038 (GRCm39) I79L possibly damaging Het
Other mutations in Fam78a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02551:Fam78a APN 2 31,959,568 (GRCm39) missense probably damaging 0.98
IGL03267:Fam78a APN 2 31,959,679 (GRCm39) missense probably benign 0.00
R1613:Fam78a UTSW 2 31,959,581 (GRCm39) missense probably damaging 0.99
R4729:Fam78a UTSW 2 31,972,617 (GRCm39) missense probably damaging 0.98
R4913:Fam78a UTSW 2 31,959,774 (GRCm39) missense probably damaging 1.00
R4934:Fam78a UTSW 2 31,959,427 (GRCm39) missense probably damaging 1.00
R5186:Fam78a UTSW 2 31,972,666 (GRCm39) missense possibly damaging 0.94
R6431:Fam78a UTSW 2 31,972,843 (GRCm39) missense probably damaging 1.00
R7369:Fam78a UTSW 2 31,959,699 (GRCm39) missense probably damaging 1.00
R7403:Fam78a UTSW 2 31,959,627 (GRCm39) missense probably damaging 0.98
R8049:Fam78a UTSW 2 31,973,035 (GRCm39) start gained probably benign
R8469:Fam78a UTSW 2 31,959,345 (GRCm39) missense possibly damaging 0.90
R8910:Fam78a UTSW 2 31,959,681 (GRCm39) missense probably damaging 1.00
R9021:Fam78a UTSW 2 31,959,313 (GRCm39) missense probably benign 0.27
Posted On 2016-08-02