Incidental Mutation 'R6818:Faf2'
ID 537448
Institutional Source Beutler Lab
Gene Symbol Faf2
Ensembl Gene ENSMUSG00000025873
Gene Name Fas associated factor family member 2
Synonyms Ubxd8, 2210404D11Rik
MMRRC Submission 044930-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.909) question?
Stock # R6818 (G1)
Quality Score 225.009
Status Validated
Chromosome 13
Chromosomal Location 54769597-54811876 bp(+) (GRCm39)
Type of Mutation splice site (110 bp from exon)
DNA Base Change (assembly) T to A at 54789419 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 null
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 null
Transcript: ENSMUST00000126071
SMART Domains Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873

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 null
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 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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
Validation Efficiency 97% (59/61)
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: 60 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb5 T A 12: 118,865,089 (GRCm39) probably null Het
Acot4 A C 12: 84,088,783 (GRCm39) E210D probably damaging Het
Adamts9 A C 6: 92,882,172 (GRCm39) S476A probably damaging Het
Ajm1 C CTCTA 2: 25,469,733 (GRCm39) probably null Het
Ak1 T A 2: 32,520,385 (GRCm39) M61K probably damaging Het
Ambp G T 4: 63,072,243 (GRCm39) S17* probably null Het
Anxa6 T A 11: 54,870,326 (GRCm39) M662L probably benign Het
Atp11b T C 3: 35,868,329 (GRCm39) I467T possibly damaging Het
B3gat1 G T 9: 26,662,998 (GRCm39) probably benign Het
Bccip T G 7: 133,319,488 (GRCm39) I193S probably damaging Het
Ccdc170 A G 10: 4,491,782 (GRCm39) E401G probably damaging Het
Cldn16 A G 16: 26,296,257 (GRCm39) T78A probably damaging Het
Cldn24 G T 8: 48,275,757 (GRCm39) A194S probably benign Het
Cltc A G 11: 86,595,054 (GRCm39) V1348A possibly damaging Het
Clvs1 T C 4: 9,282,014 (GRCm39) probably null Het
Csmd1 C T 8: 16,235,341 (GRCm39) D1161N probably damaging Het
Cuzd1 A G 7: 130,918,394 (GRCm39) V181A probably damaging Het
Dhx30 A G 9: 109,917,099 (GRCm39) I435T probably damaging Het
Dip2b T C 15: 100,091,835 (GRCm39) V858A probably benign Het
Dnmt3b C T 2: 153,528,204 (GRCm39) T822M probably damaging Het
Dock10 A T 1: 80,593,082 (GRCm39) F97I possibly damaging Het
Dock8 T C 19: 25,146,865 (GRCm39) probably null Het
Dvl2 T C 11: 69,900,099 (GRCm39) L631P probably damaging Het
Fat2 T A 11: 55,200,167 (GRCm39) H969L probably benign Het
Fsip2 T A 2: 82,815,544 (GRCm39) V3759E probably benign Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm973 T C 1: 59,669,328 (GRCm39) L793P probably damaging Het
H2-M1 A G 17: 36,981,327 (GRCm39) I236T probably damaging Het
Hif1a A T 12: 73,992,337 (GRCm39) R765* probably null Het
Htt A G 5: 34,940,111 (GRCm39) K77E probably damaging Het
Ift172 G T 5: 31,423,304 (GRCm39) Q826K probably benign Het
Inafm1 C T 7: 16,007,086 (GRCm39) A44T probably damaging Het
Kctd4 A G 14: 76,200,748 (GRCm39) T240A probably damaging Het
Klk1 A T 7: 43,878,883 (GRCm39) I124F probably damaging Het
Krbox5 A G 13: 67,981,986 (GRCm39) Q66R possibly damaging Het
Kremen1 T C 11: 5,145,051 (GRCm39) T442A probably benign Het
Mei4 T A 9: 81,907,574 (GRCm39) D202E probably benign Het
Mest T A 6: 30,746,286 (GRCm39) D284E probably damaging Het
Nsfl1c T A 2: 151,344,940 (GRCm39) Y95* probably null Het
Or10al5 T A 17: 38,063,315 (GRCm39) V190D possibly damaging Het
Or10am5 T C 7: 6,517,550 (GRCm39) M293V probably damaging Het
Or2ak4 T A 11: 58,648,783 (GRCm39) C97* probably null Het
Or4k38 T G 2: 111,165,659 (GRCm39) I255L probably benign Het
Pgm1 T A 4: 99,820,763 (GRCm39) I220N probably damaging Het
Pirt T A 11: 66,816,719 (GRCm39) V10E possibly damaging Het
Prl7d1 C A 13: 27,898,454 (GRCm39) M19I probably benign Het
Samhd1 T C 2: 156,949,417 (GRCm39) N490D probably benign Het
Scn2a C A 2: 65,519,013 (GRCm39) S413* probably null Het
Serpinb6e A T 13: 34,016,337 (GRCm39) probably null Het
Slitrk5 A G 14: 111,917,726 (GRCm39) D450G probably benign Het
Tchh A G 3: 93,350,718 (GRCm39) T53A probably damaging Het
Tmem44 A T 16: 30,362,039 (GRCm39) probably null Het
Tpm3-rs7 A G 14: 113,552,448 (GRCm39) E114G possibly damaging Het
Treml2 A G 17: 48,609,925 (GRCm39) Y119C probably damaging Het
Ubxn1 T A 19: 8,851,245 (GRCm39) probably null Het
Vmn2r84 A T 10: 130,222,147 (GRCm39) M691K probably benign Het
Vmn2r97 A T 17: 19,168,193 (GRCm39) I816F possibly damaging Het
Was GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC GCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTCCTC X: 7,952,450 (GRCm39) probably benign Het
Wfdc2 T C 2: 164,405,070 (GRCm39) probably null Het
Zscan4-ps3 T C 7: 11,346,986 (GRCm39) S341P 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
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
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'- TTGAGCATCACTAAAGTTCTGCC -3'
(R):5'- GACATTTCAAAAGCAAGCTGC -3'

Sequencing Primer
(F):5'- GCATCACTAAAGTTCTGCCCTTGTG -3'
(R):5'- CTGCTCAAAATGAGGCCCAGG -3'
Posted On 2018-10-18