Incidental Mutation 'IGL02457:Xaf1'
ID294425
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xaf1
Ensembl Gene ENSMUSG00000040483
Gene NameXIAP associated factor 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.076) question?
Stock #IGL02457
Quality Score
Status
Chromosome11
Chromosomal Location72301629-72313733 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 72303431 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Threonine at position 46 (M46T)
Ref Sequence ENSEMBL: ENSMUSP00000123011 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094041] [ENSMUST00000140842] [ENSMUST00000146233] [ENSMUST00000151440]
Predicted Effect possibly damaging
Transcript: ENSMUST00000094041
AA Change: M46T

PolyPhen 2 Score 0.762 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect probably benign
Transcript: ENSMUST00000140842
AA Change: M46T

PolyPhen 2 Score 0.049 (Sensitivity: 0.94; Specificity: 0.83)
SMART Domains Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483
AA Change: M46T

DomainStartEndE-ValueType
PDB:2LXW|A 133 175 7e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142921
Predicted Effect possibly damaging
Transcript: ENSMUST00000146233
AA Change: M46T

PolyPhen 2 Score 0.802 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
AA Change: M46T

DomainStartEndE-ValueType
PDB:2LXW|A 228 270 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151440
AA Change: M46T

PolyPhen 2 Score 0.387 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483
AA Change: M46T

DomainStartEndE-ValueType
PDB:2LXW|A 133 165 7e-9 PDB
low complexity region 194 205 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which binds to and counteracts the inhibitory effect of a member of the IAP (inhibitor of apoptosis) protein family. IAP proteins bind to and inhibit caspases which are activated during apoptosis. The proportion of IAPs and proteins which interfere with their activity, such as the encoded protein, affect the progress of the apoptosis signaling pathway. Multiple transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Feb 2012]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd16b A G 2: 181,494,334 D343G probably benign Het
Acot10 T C 15: 20,666,143 S171G possibly damaging Het
Actr3b T C 5: 25,849,162 probably null Het
Adamts17 T C 7: 67,027,814 M492T probably damaging Het
Akap4 A C X: 7,077,468 N670T probably benign Het
Atrip A G 9: 109,065,231 S55P possibly damaging Het
Bend3 A T 10: 43,509,950 E113V probably damaging Het
Ccdc158 A C 5: 92,650,048 I411S probably damaging Het
Cd163l1 G A 7: 140,220,395 G30S probably benign Het
Cfap97 G T 8: 46,170,278 C235F possibly damaging Het
Chil4 T C 3: 106,214,399 N45D probably benign Het
D430041D05Rik A G 2: 104,249,345 V1131A probably damaging Het
Defb38 T C 8: 19,026,536 probably benign Het
Dnah10 T A 5: 124,789,796 W2260R probably damaging Het
Ecsit A G 9: 22,078,204 S14P probably damaging Het
Eif3l T C 15: 79,078,096 F106L probably benign Het
Erich5 G T 15: 34,470,853 G76V probably damaging Het
Evpl A G 11: 116,230,113 L432P possibly damaging Het
Fbxw10 T C 11: 62,874,982 F698L probably damaging Het
Frem2 A T 3: 53,521,049 S2866T probably damaging Het
Fuca1 G A 4: 135,934,762 V334I probably benign Het
Hprt T A X: 53,002,133 H60Q probably benign Het
Kirrel2 T C 7: 30,452,740 N481S probably damaging Het
Krt16 A T 11: 100,246,336 probably benign Het
Lilr4b T A 10: 51,481,238 Y57N probably benign Het
Lix1l A G 3: 96,614,476 Y126C probably damaging Het
Lox T C 18: 52,521,316 D347G probably damaging Het
Mak16 C T 8: 31,164,725 R147Q possibly damaging Het
Ndst2 G A 14: 20,729,554 A206V possibly damaging Het
Olfr356 A T 2: 36,937,748 I210F probably damaging Het
Olfr450 T A 6: 42,818,242 I257N probably damaging Het
Phldb1 T C 9: 44,716,474 M225V probably benign Het
Pofut1 C T 2: 153,248,596 Q137* probably null Het
Polr2a T C 11: 69,743,250 probably benign Het
Prdm5 T A 6: 65,881,116 L388Q probably damaging Het
Rad51c A G 11: 87,380,855 S344P possibly damaging Het
Sdk1 C T 5: 141,953,016 P398L probably damaging Het
Sec63 G A 10: 42,801,733 probably benign Het
Sgo1 A T 17: 53,676,961 L463Q probably damaging Het
Slc5a6 A G 5: 31,040,658 L291P probably damaging Het
Smarcb1 T C 10: 75,921,371 T9A probably benign Het
Sp3 A G 2: 72,971,469 W67R probably damaging Het
Ssxb9 A C X: 21,174,995 S23A probably benign Het
Syne1 A G 10: 5,342,167 L1367S probably damaging Het
Tbc1d23 T A 16: 57,170,391 I690F probably damaging Het
Tdgf1 C T 9: 110,942,623 C32Y probably damaging Het
Tmed5 A T 5: 108,124,550 S227R probably benign Het
Tnrc6c T A 11: 117,722,977 S814T probably benign Het
Trbv2 C T 6: 41,047,971 T107I probably benign Het
Trpm6 T C 19: 18,825,791 V866A probably damaging Het
Trpm6 A T 19: 18,827,398 K905* probably null Het
Ttn A G 2: 76,709,310 V34444A probably benign Het
Vmn1r86 C T 7: 13,102,780 M56I probably benign Het
Vmn2r17 A C 5: 109,453,146 D770A probably damaging Het
Wnk4 T C 11: 101,269,563 probably benign Het
Other mutations in Xaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0230:Xaf1 UTSW 11 72306555 intron probably benign
R1955:Xaf1 UTSW 11 72306606 missense possibly damaging 0.81
R2206:Xaf1 UTSW 11 72303402 missense possibly damaging 0.85
R2207:Xaf1 UTSW 11 72303402 missense possibly damaging 0.85
R4864:Xaf1 UTSW 11 72306856 intron probably benign
R5973:Xaf1 UTSW 11 72303430 missense probably damaging 0.98
R6463:Xaf1 UTSW 11 72308638 missense probably benign 0.01
R6786:Xaf1 UTSW 11 72306635 missense probably benign 0.00
R7199:Xaf1 UTSW 11 72303375 nonsense probably null
Posted On2015-04-16