Incidental Mutation 'R2151:Faf2'
ID234301
Institutional Source Beutler Lab
Gene Symbol Faf2
Ensembl Gene ENSMUSG00000025873
Gene NameFas associated factor family member 2
SynonymsUbxd8, 2210404D11Rik
MMRRC Submission 040154-MU
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.797) question?
Stock #R2151 (G1)
Quality Score225
Status Validated
Chromosome13
Chromosomal Location54621784-54664063 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 54648407 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 126 (F126L)
Ref Sequence ENSEMBL: ENSMUSP00000123026 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026991] [ENSMUST00000124752] [ENSMUST00000126071] [ENSMUST00000135232] [ENSMUST00000137413]
Predicted Effect probably damaging
Transcript: ENSMUST00000026991
AA Change: F135L

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000026991
Gene: ENSMUSG00000025873
AA Change: F135L

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 damaging
Transcript: ENSMUST00000126071
AA Change: F154L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000121182
Gene: ENSMUSG00000025873
AA Change: F154L

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 damaging
Transcript: ENSMUST00000135232
AA Change: F126L

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000123026
Gene: ENSMUSG00000025873
AA Change: F126L

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: ENSMUST00000141915
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
Meta Mutation Damage Score 0.312 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 100% (91/91)
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: 90 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700015F17Rik C T 5: 5,478,875 V47I possibly damaging Het
4930447C04Rik T C 12: 72,907,951 probably null Het
4930579F01Rik A G 3: 138,176,456 probably null Het
Abhd17c G T 7: 84,151,455 H130Q probably damaging Het
Actr10 T A 12: 70,940,801 C27* probably null Het
AF529169 T G 9: 89,602,168 K392T possibly damaging Het
Als2 G A 1: 59,207,789 H564Y probably damaging Het
Art5 A G 7: 102,098,200 L124P possibly damaging Het
Asap2 A T 12: 21,112,083 T14S probably damaging Het
Atp2c2 A G 8: 119,756,102 N901S probably benign Het
Bicd2 G T 13: 49,379,576 C546F probably damaging Het
Cnbp C T 6: 87,845,299 G81D probably damaging Het
Dnah5 T C 15: 28,444,091 Y4012H probably damaging Het
Dok5 G A 2: 170,800,896 G38D probably damaging Het
Drc3 A T 11: 60,375,157 E224V probably benign Het
Ehd2 T C 7: 15,952,203 K315E probably damaging Het
Eif6 A T 2: 155,822,890 N225K probably benign Het
Epg5 T C 18: 78,027,302 V2264A probably benign Het
Fam71b A T 11: 46,405,331 K177* probably null Het
Fiz1 T C 7: 5,012,881 S37G possibly damaging Het
Frs3 T C 17: 47,703,062 S227P probably benign Het
Gm21188 C T 13: 120,034,799 C178Y unknown Het
Gm4787 T A 12: 81,377,219 I722F probably benign Het
Gm6370 T A 5: 146,493,641 L212Q probably damaging Het
Gmnc G A 16: 26,960,706 H142Y possibly damaging Het
Gna15 T C 10: 81,502,904 Y367C probably damaging Het
Gpr158 G A 2: 21,827,514 V1142M possibly damaging Het
Gpx6 A G 13: 21,318,971 K185R probably damaging Het
Hc A C 2: 34,991,103 probably benign Het
Hdac9 A G 12: 34,390,256 S375P probably damaging Het
Kat6b A T 14: 21,668,667 H1138L probably benign Het
Klre1 G A 6: 129,580,033 E33K possibly damaging Het
Ldhb C A 6: 142,498,670 V86L possibly damaging Het
Magi3 T A 3: 104,046,882 K713I probably damaging Het
Magi3 T C 3: 104,085,238 Y306C probably damaging Het
Mmp17 T C 5: 129,605,661 Y455H probably benign Het
Mmp25 T A 17: 23,631,074 Y504F probably damaging Het
Myo1a T C 10: 127,720,181 I969T probably benign Het
Nedd4l T A 18: 65,210,330 H820Q probably damaging Het
Nf1 T A 11: 79,447,570 M1136K possibly damaging Het
Nmi T C 2: 51,952,543 E179G probably damaging Het
Nov G A 15: 54,752,458 A340T probably benign Het
Nrros A T 16: 32,143,258 M611K probably benign Het
Nsd1 A T 13: 55,291,236 N1692I probably damaging Het
Nuak1 T C 10: 84,409,645 N112S probably benign Het
Odf2l T C 3: 145,149,024 Y488H possibly damaging Het
Olfr1204 C A 2: 88,852,784 P278H probably damaging Het
Olfr935 T A 9: 38,994,716 T240S probably damaging Het
Olfr948 T A 9: 39,319,117 I166F probably damaging Het
Otop2 A G 11: 115,329,411 D359G possibly damaging Het
Pi4ka A T 16: 17,367,507 F243Y probably benign Het
Pnmal2 T C 7: 16,945,912 C274R probably benign Het
Ppp1r42 A G 1: 10,003,347 V6A probably benign Het
Prrg4 A G 2: 104,839,388 L128S probably damaging Het
Prss33 C T 17: 23,834,843 V87M probably damaging Het
Psen2 A G 1: 180,233,664 V278A probably damaging Het
Ptpn13 C A 5: 103,525,785 T538K probably damaging Het
Rad51ap2 A G 12: 11,457,985 H636R probably benign Het
Rbak A C 5: 143,176,502 D35E possibly damaging Het
Rbms1 C A 2: 60,762,048 probably null Het
Rgs7bp T A 13: 104,964,089 N226I probably damaging Het
Rnf182 T A 13: 43,668,423 V150E probably benign Het
Sacs A G 14: 61,209,640 Y3045C probably damaging Het
Scp2 G T 4: 108,063,944 A23E probably benign Het
Sec16a A T 2: 26,413,745 probably benign Het
Slc30a5 A T 13: 100,803,949 H619Q probably damaging Het
Slfn10-ps T A 11: 83,035,685 noncoding transcript Het
Slmap A G 14: 26,418,247 Y771H probably damaging Het
Slx T A X: 26,534,389 probably benign Het
Spns3 C A 11: 72,545,961 probably benign Het
Stxbp1 T A 2: 32,802,856 I383F probably damaging Het
Taf3 C T 2: 9,951,566 E597K possibly damaging Het
Tbcd A G 11: 121,603,631 Q1006R possibly damaging Het
Tenm4 G T 7: 96,902,847 V2498F probably damaging Het
Tex2 T C 11: 106,567,335 probably benign Het
Tkfc A T 19: 10,599,057 L154Q probably damaging Het
Tmem57 A G 4: 134,811,223 V470A probably benign Het
Tmem62 A G 2: 120,986,862 H257R probably damaging Het
Trpm2 T C 10: 77,932,179 I829V probably benign Het
Ttc38 A G 15: 85,851,601 probably null Het
Ttn A T 2: 76,718,413 Y30135* probably null Het
Ttn A G 2: 76,980,133 V17A probably benign Het
Ubqlnl A T 7: 104,148,683 C536S probably benign Het
Vmn1r230 T A 17: 20,846,801 M84K probably damaging Het
Vmn1r235 G A 17: 21,262,366 V318I probably benign Het
Vmn2r76 T C 7: 86,230,484 I203V probably benign Het
Vmn2r97 A T 17: 18,947,322 R613* probably null Het
Zfp180 A G 7: 24,105,260 H368R probably damaging Het
Zfp407 T C 18: 84,209,649 D1945G possibly damaging Het
Zfyve27 G T 19: 42,171,731 R62L probably benign Het
Other mutations in Faf2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01596:Faf2 APN 13 54621903 missense probably null 0.97
IGL01743:Faf2 APN 13 54641498 critical splice donor site probably null
IGL02861:Faf2 APN 13 54648422 missense probably damaging 1.00
R0578:Faf2 UTSW 13 54621845 missense possibly damaging 0.90
R1696:Faf2 UTSW 13 54638254 makesense probably null
R1925:Faf2 UTSW 13 54652052 missense probably damaging 1.00
R5658:Faf2 UTSW 13 54641534 missense probably benign 0.40
R6818:Faf2 UTSW 13 54641606 intron probably null
Predicted Primers PCR Primer
(F):5'- AAACTGGCCCACTCCATATG -3'
(R):5'- CATCACAAGAACGGGGCTAGAC -3'

Sequencing Primer
(F):5'- GCGCTACAGTAAGCCAATTCATGTG -3'
(R):5'- AGAAAAGGCTTGGTCCTGCCTC -3'
Posted On2014-10-01