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
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.058) question?
Stock # IGL03028
Quality Score
Status
Chromosome 2
Chromosomal Location 32050055-32084857 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) A to G at 32082882 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 9 (W9R)
Ref Sequence ENSEMBL: ENSMUSP00000115010 (fasta)
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: 53,594,762 V86G probably benign Het
Adgra3 A T 5: 50,016,852 W115R probably benign Het
Ahr G A 12: 35,504,710 A470V probably benign Het
AI481877 A C 4: 59,094,274 I150S possibly damaging Het
Aoah A T 13: 20,816,582 Q62L possibly damaging Het
Arhgef12 A T 9: 43,026,228 D100E possibly damaging Het
Asic1 A G 15: 99,672,157 N120D probably benign Het
Atp2b2 A G 6: 113,759,142 L988P probably damaging Het
Atxn2 T A 5: 121,810,909 H789Q probably damaging Het
Clk1 G T 1: 58,421,102 S123* probably null Het
Col10a1 C T 10: 34,395,016 A328V probably benign Het
Col26a1 G T 5: 136,743,118 D415E possibly damaging Het
Ctla2a A G 13: 60,935,459 probably benign Het
Cwf19l2 A G 9: 3,430,622 E318G probably benign Het
Dnajc16 C T 4: 141,767,732 W523* probably null Het
Ehhadh T C 16: 21,762,394 E616G probably damaging Het
F5 A T 1: 164,193,000 K1015* probably null Het
Frs2 A T 10: 117,073,933 M508K possibly damaging Het
Gm3164 A T 14: 4,440,111 M200L probably benign Het
Gm44511 T C 6: 128,780,395 S179G probably damaging Het
Gpr25 G A 1: 136,260,812 S21L probably benign Het
Hsdl2 A G 4: 59,594,471 D34G probably damaging Het
Kcnt1 A G 2: 25,909,203 probably null Het
Kl A G 5: 150,991,550 Y914C probably damaging Het
Map3k3 T G 11: 106,110,751 V45G probably damaging Het
Mppe1 A C 18: 67,227,684 C261W probably damaging Het
Nin T C 12: 70,035,270 T1640A probably benign Het
Olfr368 C T 2: 37,331,956 L70F probably damaging Het
Olfr483 T A 7: 108,104,173 M288K probably damaging Het
Olfr570 T A 7: 102,900,829 I154N possibly damaging Het
Olfr616 A G 7: 103,564,589 probably null Het
Olfr844 A T 9: 19,319,368 Y284F probably damaging Het
Oxr1 A G 15: 41,817,163 N166D probably damaging Het
Pank4 T A 4: 154,969,985 probably benign Het
Pgd A G 4: 149,161,627 probably null Het
Pitrm1 C T 13: 6,574,393 H831Y probably benign Het
Pkd1l2 G A 8: 117,065,745 T436I probably benign Het
Rad51 A C 2: 119,116,314 M1L possibly damaging Het
Recql5 G T 11: 115,894,431 S746R possibly damaging Het
Rhbdl3 C T 11: 80,323,461 Q133* probably null Het
Rpp40 A T 13: 35,904,511 L59Q probably damaging Het
Rtca C A 3: 116,493,092 probably benign Het
Rtkn C T 6: 83,147,872 Q108* probably null Het
Sirt6 C T 10: 81,627,541 probably benign Het
Slc9a4 G A 1: 40,610,377 V517M probably benign Het
Smarca2 G T 19: 26,678,312 probably benign Het
Snx33 A T 9: 56,926,451 D111E probably benign Het
Tgfb1 T C 7: 25,704,196 I311T probably damaging Het
Tgfb2 C T 1: 186,630,609 probably null Het
Tmem232 T C 17: 65,256,389 T670A probably benign Het
Tnfsf4 T C 1: 161,395,642 F21L possibly damaging Het
Ubr5 T C 15: 38,047,593 T47A probably benign Het
Unc79 T C 12: 103,173,526 V2515A possibly damaging Het
Utp6 T C 11: 79,953,624 K192E probably damaging Het
Vmn2r102 T C 17: 19,694,066 F631S possibly damaging Het
Zfp516 A C 18: 82,955,913 I79L possibly damaging Het
Other mutations in Fam78a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02551:Fam78a APN 2 32069556 missense probably damaging 0.98
IGL03267:Fam78a APN 2 32069667 missense probably benign 0.00
R1613:Fam78a UTSW 2 32069569 missense probably damaging 0.99
R4729:Fam78a UTSW 2 32082605 missense probably damaging 0.98
R4913:Fam78a UTSW 2 32069762 missense probably damaging 1.00
R4934:Fam78a UTSW 2 32069415 missense probably damaging 1.00
R5186:Fam78a UTSW 2 32082654 missense possibly damaging 0.94
R6431:Fam78a UTSW 2 32082831 missense probably damaging 1.00
R7369:Fam78a UTSW 2 32069687 missense probably damaging 1.00
R7403:Fam78a UTSW 2 32069615 missense probably damaging 0.98
R8049:Fam78a UTSW 2 32083023 start gained probably benign
R8469:Fam78a UTSW 2 32069333 missense possibly damaging 0.90
R8910:Fam78a UTSW 2 32069669 missense probably damaging 1.00
R9021:Fam78a UTSW 2 32069301 missense probably benign 0.27
Posted On 2016-08-02