Incidental Mutation 'IGL01743:Faf2'
ID 152922
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Faf2
Ensembl Gene ENSMUSG00000025873
Gene Name Fas associated factor family member 2
Synonyms Ubxd8, 2210404D11Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.901) question?
Stock # IGL01743
Quality Score
Status
Chromosome 13
Chromosomal Location 54769597-54811876 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 54789311 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000116612 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026991] [ENSMUST00000124752] [ENSMUST00000126071] [ENSMUST00000135015] [ENSMUST00000135232] [ENSMUST00000137413]
AlphaFold Q3TDN2
Predicted Effect probably null
Transcript: ENSMUST00000026991
SMART Domains Protein: ENSMUSP00000026991
Gene: ENSMUSG00000025873

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
AA Change: V43A

PolyPhen 2 Score 0.370 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121606
Gene: ENSMUSG00000025873
AA Change: V43A

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 damaging
Transcript: ENSMUST00000126071
AA Change: V71A

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873
AA Change: V71A

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 probably benign
Transcript: ENSMUST00000135015
Predicted Effect probably benign
Transcript: ENSMUST00000135232
AA Change: V43A

PolyPhen 2 Score 0.357 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000123026
Gene: ENSMUSG00000025873
AA Change: V43A

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 null
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 probably benign
Transcript: ENSMUST00000153894
SMART Domains Protein: ENSMUSP00000120594
Gene: ENSMUSG00000025873

DomainStartEndE-ValueType
transmembrane domain 7 26 N/A INTRINSIC
transmembrane domain 41 63 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220453
Coding Region Coverage
Validation Efficiency
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: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcc6 A T 7: 45,646,238 (GRCm39) N750K probably benign Het
Ackr2 T C 9: 121,738,566 (GRCm39) C314R probably benign Het
Adar C T 3: 89,652,747 (GRCm39) Q210* probably null Het
Aifm1 A G X: 47,569,153 (GRCm39) probably benign Het
Aldoa G T 7: 126,395,875 (GRCm39) D198E probably damaging Het
Ampd1 T A 3: 103,002,201 (GRCm39) probably benign Het
Arhgef18 G T 8: 3,414,697 (GRCm39) C25F probably benign Het
Btnl1 T C 17: 34,604,659 (GRCm39) I480T probably damaging Het
Capn9 T C 8: 125,318,508 (GRCm39) S125P probably benign Het
Cd40lg T A X: 56,257,592 (GRCm39) Y26* probably null Het
Cdc42bpg G T 19: 6,359,853 (GRCm39) probably null Het
Cdh10 T C 15: 18,986,855 (GRCm39) L362P probably benign Het
Dhx16 A G 17: 36,199,000 (GRCm39) D782G probably damaging Het
Dnajb14 G T 3: 137,611,761 (GRCm39) V320L possibly damaging Het
Dpy19l1 C T 9: 24,396,365 (GRCm39) R117Q probably damaging Het
Ercc6 T C 14: 32,274,561 (GRCm39) V568A probably damaging Het
Fbrsl1 C T 5: 110,529,506 (GRCm39) V223M probably damaging Het
Fcrl5 T C 3: 87,351,598 (GRCm39) V282A probably damaging Het
Fxr2 C T 11: 69,543,448 (GRCm39) L650F possibly damaging Het
Gabrq A G X: 71,880,448 (GRCm39) M314V probably benign Het
Gnas T A 2: 174,140,125 (GRCm39) Y157* probably null Het
Gtf2i T C 5: 134,315,747 (GRCm39) E175G probably damaging Het
Gtf3c1 A C 7: 125,262,587 (GRCm39) Y1091D probably damaging Het
Heatr5b G A 17: 79,132,069 (GRCm39) Q345* probably null Het
Hydin T C 8: 111,319,408 (GRCm39) V4437A possibly damaging Het
Idi2 T A 13: 9,008,578 (GRCm39) L112Q probably damaging Het
Ift80 C T 3: 68,869,629 (GRCm39) V221M probably benign Het
Il16 A G 7: 83,301,507 (GRCm39) F205S probably benign Het
Irf1 T A 11: 53,665,277 (GRCm39) M218K probably benign Het
Itga8 T C 2: 12,270,144 (GRCm39) N114S probably benign Het
Itgae T C 11: 73,002,585 (GRCm39) V114A probably benign Het
Klhdc10 A G 6: 30,441,933 (GRCm39) probably null Het
Krt78 C A 15: 101,859,333 (GRCm39) R288L probably benign Het
Lars2 A T 9: 123,282,313 (GRCm39) L632F probably damaging Het
Mpdz T C 4: 81,235,919 (GRCm39) D1220G probably damaging Het
Msl1 C T 11: 98,696,245 (GRCm39) T597I probably damaging Het
Mtor T C 4: 148,615,070 (GRCm39) probably benign Het
Myo1b T C 1: 51,821,179 (GRCm39) T435A probably damaging Het
Neb A G 2: 52,115,679 (GRCm39) Y4176H probably damaging Het
Nxpe3 A G 16: 55,670,128 (GRCm39) F326L probably benign Het
Or13a21 T C 7: 139,999,581 (GRCm39) Y35C probably damaging Het
Or2ag1 A G 7: 106,313,541 (GRCm39) S116P possibly damaging Het
Pak5 T A 2: 135,929,333 (GRCm39) R617W probably damaging Het
Peak1 C A 9: 56,166,486 (GRCm39) V481L probably damaging Het
Pik3ap1 G A 19: 41,281,267 (GRCm39) probably benign Het
Pmm1 C T 15: 81,844,987 (GRCm39) E6K probably benign Het
Ppp2r5c G A 12: 110,546,868 (GRCm39) V454M probably benign Het
Ptprf C T 4: 118,106,095 (GRCm39) probably null Het
Pygm G A 19: 6,443,024 (GRCm39) probably null Het
Rimbp2 T A 5: 128,874,912 (GRCm39) probably benign Het
Rps6ka5 A T 12: 100,541,892 (GRCm39) probably null Het
Scarb2 A G 5: 92,608,662 (GRCm39) V188A probably benign Het
Sfrp1 T A 8: 23,902,354 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,820 (GRCm39) probably benign Het
Smgc A G 15: 91,738,796 (GRCm39) I485V probably benign Het
Tas2r124 A G 6: 132,731,798 (GRCm39) I36V probably benign Het
Trmt10b G T 4: 45,305,879 (GRCm39) G185W probably damaging Het
Ttll4 A G 1: 74,727,352 (GRCm39) N798S possibly damaging Het
Ttn G T 2: 76,619,896 (GRCm39) T15924N probably damaging Het
Utrn A T 10: 12,587,301 (GRCm39) Y912N possibly damaging Het
Vmn2r113 T C 17: 23,177,285 (GRCm39) Y690H probably benign Het
Vmn2r51 T C 7: 9,834,154 (GRCm39) R295G probably damaging Het
Vpreb3 A G 10: 75,784,231 (GRCm39) T14A probably benign Het
Other mutations in Faf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Faf2 APN 13 54,769,716 (GRCm39) missense probably null 0.97
IGL02861:Faf2 APN 13 54,796,235 (GRCm39) missense probably damaging 1.00
R0578:Faf2 UTSW 13 54,769,658 (GRCm39) missense possibly damaging 0.90
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
Posted On 2014-02-04