Incidental Mutation 'R0578:Faf2'
ID 56325
Institutional Source Beutler Lab
Gene Symbol Faf2
Ensembl Gene ENSMUSG00000025873
Gene Name Fas associated factor family member 2
Synonyms Ubxd8, 2210404D11Rik
MMRRC Submission 038768-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # R0578 (G1)
Quality Score 163
Status Validated
Chromosome 13
Chromosomal Location 54769597-54811876 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 54769658 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Valine at position 2 (A2V)
Ref Sequence ENSEMBL: ENSMUSP00000117945 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026991] [ENSMUST00000124752] [ENSMUST00000126071] [ENSMUST00000135015] [ENSMUST00000135232] [ENSMUST00000137413]
AlphaFold Q3TDN2
Predicted Effect probably benign
Transcript: ENSMUST00000026991
AA Change: A2V

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000026991
Gene: ENSMUSG00000025873
AA Change: A2V

DomainStartEndE-ValueType
Pfam:UBA_4 14 57 1.3e-12 PFAM
Pfam:UBA 28 49 5.3e-6 PFAM
UAS 119 244 1.98e-58 SMART
coiled coil region 270 331 N/A INTRINSIC
Pfam:UBX 337 422 4.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000124752
SMART Domains Protein: ENSMUSP00000121606
Gene: ENSMUSG00000025873

DomainStartEndE-ValueType
UAS 28 163 1.31e-40 SMART
coiled coil region 189 250 N/A INTRINSIC
low complexity region 251 261 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000126071
AA Change: A2V

PolyPhen 2 Score 0.179 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873
AA Change: A2V

DomainStartEndE-ValueType
Pfam:UBA_4 14 57 1.8e-12 PFAM
UAS 138 263 1.98e-58 SMART
coiled coil region 289 350 N/A INTRINSIC
Pfam:UBX 357 441 7e-8 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000135015
AA Change: A2V

PolyPhen 2 Score 0.904 (Sensitivity: 0.82; Specificity: 0.94)
Predicted Effect probably benign
Transcript: ENSMUST00000135232
SMART Domains Protein: ENSMUSP00000123026
Gene: ENSMUSG00000025873

DomainStartEndE-ValueType
Pfam:UBA 1 21 1e-6 PFAM
Blast:UAS 28 63 1e-16 BLAST
Blast:UAS 110 132 2e-8 BLAST
Predicted Effect probably benign
Transcript: ENSMUST00000137413
SMART Domains Protein: ENSMUSP00000116612
Gene: ENSMUSG00000025873

DomainStartEndE-ValueType
Pfam:UBA 1 21 4.1e-7 PFAM
Pfam:UBA_4 1 29 2.1e-7 PFAM
transmembrane domain 49 71 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220453
Meta Mutation Damage Score 0.1498 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.5%
  • 20x: 95.0%
Validation Efficiency 100% (53/53)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is highly expressed in peripheral blood of patients with atopic dermatitis (AD), compared to normal individuals. It may play a role in regulating the resistance to apoptosis that is observed in T cells and eosinophils of AD patients. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a conditional allele activated in the liver exhibit high-fat diet-induced periportal steatosis with reduced circulating lipid levels and ApoB secretion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930407I10Rik A G 15: 81,943,556 (GRCm39) Y56C possibly damaging Het
Abca5 A T 11: 110,167,315 (GRCm39) C1500* probably null Het
Acr C G 15: 89,453,678 (GRCm39) H72Q probably damaging Het
Adam18 T C 8: 25,131,863 (GRCm39) D416G possibly damaging Het
Afap1l2 T A 19: 56,904,214 (GRCm39) Y691F probably benign Het
Akna A G 4: 63,289,147 (GRCm39) S1259P probably benign Het
Atad2 G A 15: 57,968,964 (GRCm39) T525I probably damaging Het
Atp2a1 T G 7: 126,049,315 (GRCm39) M576L probably benign Het
B4galt6 T C 18: 20,861,013 (GRCm39) probably benign Het
Best3 A G 10: 116,844,904 (GRCm39) D353G probably benign Het
Btg3 A T 16: 78,161,834 (GRCm39) D125E probably benign Het
Cabin1 A T 10: 75,549,444 (GRCm39) D1320E probably damaging Het
Cachd1 A C 4: 100,852,039 (GRCm39) probably benign Het
Cad T C 5: 31,216,120 (GRCm39) V151A probably benign Het
Capns1 A T 7: 29,893,453 (GRCm39) probably benign Het
Catsperg2 T A 7: 29,404,116 (GRCm39) T860S possibly damaging Het
Ccdc61 T C 7: 18,637,400 (GRCm39) T76A probably benign Het
Cdipt T A 7: 126,578,702 (GRCm39) probably null Het
Cyp2d12 G A 15: 82,440,584 (GRCm39) probably benign Het
Dennd4c C A 4: 86,730,659 (GRCm39) P852Q probably damaging Het
Dsg2 G A 18: 20,727,291 (GRCm39) V613I probably benign Het
Dusp16 G C 6: 134,695,284 (GRCm39) L516V probably damaging Het
Eif2ak4 T G 2: 118,305,472 (GRCm39) probably benign Het
Gas2l3 A G 10: 89,252,937 (GRCm39) I236T probably damaging Het
Gm6605 C A 7: 38,147,699 (GRCm39) noncoding transcript Het
Got1 G T 19: 43,504,222 (GRCm39) S66R probably benign Het
Gpr149 T A 3: 62,510,110 (GRCm39) H335L possibly damaging Het
Hadhb A G 5: 30,383,804 (GRCm39) I342M probably benign Het
Helz T A 11: 107,577,226 (GRCm39) V1859D unknown Het
Htr1a T A 13: 105,581,595 (GRCm39) N278K probably damaging Het
Inppl1 T C 7: 101,480,795 (GRCm39) E355G probably damaging Het
Isl2 A G 9: 55,452,319 (GRCm39) Y297C probably damaging Het
Kat7 T C 11: 95,182,350 (GRCm39) H250R probably benign Het
Klhl30 A T 1: 91,282,074 (GRCm39) D225V probably benign Het
Mtch2 T C 2: 90,683,174 (GRCm39) probably benign Het
Muc4 C A 16: 32,755,690 (GRCm38) probably benign Het
Ncoa7 A C 10: 30,577,913 (GRCm39) probably null Het
Nuf2 T A 1: 169,338,118 (GRCm39) probably benign Het
Or5ak24 T C 2: 85,261,017 (GRCm39) D52G probably benign Het
Or6c8 A G 10: 128,915,062 (GRCm39) Y257H probably damaging Het
Pced1a T A 2: 130,261,763 (GRCm39) S297C probably damaging Het
Pi15 A T 1: 17,673,073 (GRCm39) K91* probably null Het
Pla2g4e C T 2: 120,075,162 (GRCm39) probably benign Het
Plce1 A T 19: 38,766,383 (GRCm39) H2136L probably damaging Het
Plec A G 15: 76,061,084 (GRCm39) L2973P probably damaging Het
Poln A G 5: 34,171,682 (GRCm39) I695T probably damaging Het
Pramel32 T A 4: 88,552,376 (GRCm39) I2F probably benign Het
R3hdm1 C T 1: 128,159,174 (GRCm39) Q950* probably null Het
Rxra C T 2: 27,649,582 (GRCm39) A429V probably damaging Het
Scnn1a G A 6: 125,299,207 (GRCm39) G96S probably damaging Het
Senp5 T A 16: 31,808,163 (GRCm39) T337S possibly damaging Het
Smg9 A G 7: 24,114,468 (GRCm39) D269G probably damaging Het
Srsf11 C T 3: 157,717,704 (GRCm39) probably benign Het
Tmtc1 C T 6: 148,256,716 (GRCm39) probably benign Het
Vmn2r19 T C 6: 123,312,931 (GRCm39) V667A probably damaging Het
Other mutations in Faf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Faf2 APN 13 54,769,716 (GRCm39) missense probably null 0.97
IGL01743:Faf2 APN 13 54,789,311 (GRCm39) critical splice donor site probably null
IGL02861:Faf2 APN 13 54,796,235 (GRCm39) missense probably damaging 1.00
R1696:Faf2 UTSW 13 54,786,067 (GRCm39) makesense probably null
R1925:Faf2 UTSW 13 54,799,865 (GRCm39) missense probably damaging 1.00
R2151:Faf2 UTSW 13 54,796,220 (GRCm39) missense probably damaging 1.00
R5658:Faf2 UTSW 13 54,789,347 (GRCm39) missense probably benign 0.40
R6818:Faf2 UTSW 13 54,789,419 (GRCm39) splice site probably null
R7571:Faf2 UTSW 13 54,798,027 (GRCm39) missense probably damaging 0.97
R7814:Faf2 UTSW 13 54,808,774 (GRCm39) missense probably benign 0.16
R8983:Faf2 UTSW 13 54,769,726 (GRCm39) missense probably benign 0.27
R9015:Faf2 UTSW 13 54,796,139 (GRCm39) missense probably benign 0.00
R9165:Faf2 UTSW 13 54,799,951 (GRCm39) missense probably benign 0.01
Predicted Primers PCR Primer
(F):5'- TGAATTGTTCGGCCTAGACACGC -3'
(R):5'- TGCAAGCTGATGCCAACTCTGC -3'

Sequencing Primer
(F):5'- TAGACACGCGAACGTCG -3'
(R):5'- GGGATCTGAGTTATCTCTAGCACATC -3'
Posted On 2013-07-11