Incidental Mutation 'R6463:Xaf1'
ID 517698
Institutional Source Beutler Lab
Gene Symbol Xaf1
Ensembl Gene ENSMUSG00000040483
Gene Name XIAP associated factor 1
Synonyms
MMRRC Submission 045324-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R6463 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 72192455-72204559 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 72199464 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Histidine at position 67 (R67H)
Ref Sequence ENSEMBL: ENSMUSP00000121483 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000094041] [ENSMUST00000140842] [ENSMUST00000146233] [ENSMUST00000151440]
AlphaFold Q5NBU8
Predicted Effect probably benign
Transcript: ENSMUST00000094041
Predicted Effect probably benign
Transcript: ENSMUST00000140842
AA Change: R67H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483
AA Change: R67H

DomainStartEndE-ValueType
PDB:2LXW|A 133 175 7e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142921
Predicted Effect probably benign
Transcript: ENSMUST00000146233
AA Change: R162H

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483
AA Change: R162H

DomainStartEndE-ValueType
PDB:2LXW|A 228 270 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151440
AA Change: R67H

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483
AA Change: R67H

DomainStartEndE-ValueType
PDB:2LXW|A 133 165 7e-9 PDB
low complexity region 194 205 N/A INTRINSIC
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 97.8%
  • 20x: 92.4%
Validation Efficiency 100% (51/51)
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700009N14Rik A T 4: 39,450,938 (GRCm39) H48L probably damaging Het
Aifm3 A G 16: 17,318,653 (GRCm39) I185V probably benign Het
Asb7 A T 7: 66,309,984 (GRCm39) D77E probably damaging Het
Cacna1i T C 15: 80,239,959 (GRCm39) I336T probably damaging Het
Cadps2 A T 6: 23,323,333 (GRCm39) L1016* probably null Het
Cep63 C A 9: 102,473,354 (GRCm39) M504I probably benign Het
Chpf2 G T 5: 24,794,524 (GRCm39) L231F probably damaging Het
Cnot10 T C 9: 114,454,970 (GRCm39) Y221C probably damaging Het
Col3a1 G A 1: 45,381,365 (GRCm39) probably benign Het
Csl T C 10: 99,594,960 (GRCm39) D35G probably damaging Het
Csmd3 T C 15: 47,539,875 (GRCm39) Y2286C probably damaging Het
Dbt A G 3: 116,333,409 (GRCm39) E293G possibly damaging Het
Ddx31 T A 2: 28,737,525 (GRCm39) probably null Het
Dnm1 T C 2: 32,199,603 (GRCm39) probably benign Het
Elfn1 A G 5: 139,958,040 (GRCm39) Y348C probably damaging Het
Enpp5 G A 17: 44,396,155 (GRCm39) G356S probably damaging Het
Epha5 T A 5: 84,254,569 (GRCm39) I657F probably damaging Het
Fbp1 A G 13: 63,012,824 (GRCm39) F123S possibly damaging Het
Hkdc1 T C 10: 62,229,481 (GRCm39) N732S probably damaging Het
Itfg1 A G 8: 86,462,780 (GRCm39) S448P probably benign Het
Itprid1 A G 6: 55,945,663 (GRCm39) R795G probably benign Het
Izumo2 A G 7: 44,358,498 (GRCm39) K84R probably benign Het
Kbtbd3 A G 9: 4,316,921 (GRCm39) Y24C probably benign Het
Kif1b T C 4: 149,277,053 (GRCm39) M1337V probably benign Het
Mdn1 T C 4: 32,773,308 (GRCm39) L5489P probably damaging Het
Mettl2 G A 11: 105,023,407 (GRCm39) probably null Het
Mtr T C 13: 12,231,752 (GRCm39) T651A probably benign Het
Naglu A G 11: 100,968,177 (GRCm39) probably null Het
Nkx6-1 G T 5: 101,807,342 (GRCm39) H347N probably damaging Het
Ntpcr A G 8: 126,462,843 (GRCm39) E20G probably benign Het
Oas2 T C 5: 120,873,046 (GRCm39) R670G probably null Het
Or10h1 G A 17: 33,418,612 (GRCm39) V197I probably benign Het
Or2ag16 C G 7: 106,352,008 (GRCm39) E196Q probably benign Het
Or4p8 T C 2: 88,727,462 (GRCm39) I160V probably benign Het
Phldb2 A C 16: 45,595,356 (GRCm39) V902G probably benign Het
Rdh7 T C 10: 127,721,650 (GRCm39) R209G probably benign Het
Slc13a3 A C 2: 165,287,573 (GRCm39) L127R probably damaging Het
Slc6a20b T A 9: 123,434,014 (GRCm39) I275F possibly damaging Het
St3gal1 A G 15: 66,983,195 (GRCm39) V187A possibly damaging Het
Tmx4 T C 2: 134,462,559 (GRCm39) Y124C probably damaging Het
Trh A T 6: 92,219,824 (GRCm39) M164K possibly damaging Het
Trhr A G 15: 44,060,981 (GRCm39) N167S probably benign Het
Ttll7 G A 3: 146,637,337 (GRCm39) R490Q possibly damaging Het
Uck1 T C 2: 32,148,667 (GRCm39) N100S probably benign Het
Ucp3 A T 7: 100,129,476 (GRCm39) T104S probably benign Het
Vmn2r28 T A 7: 5,489,435 (GRCm39) H468L probably benign Het
Ypel4 T C 2: 84,567,087 (GRCm39) probably benign Het
Zfp687 A G 3: 94,918,095 (GRCm39) I559T probably damaging Het
Other mutations in Xaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Xaf1 APN 11 72,194,257 (GRCm39) missense possibly damaging 0.80
R0230:Xaf1 UTSW 11 72,197,381 (GRCm39) intron probably benign
R1955:Xaf1 UTSW 11 72,197,432 (GRCm39) missense possibly damaging 0.81
R2206:Xaf1 UTSW 11 72,194,228 (GRCm39) missense possibly damaging 0.85
R2207:Xaf1 UTSW 11 72,194,228 (GRCm39) missense possibly damaging 0.85
R4864:Xaf1 UTSW 11 72,197,682 (GRCm39) intron probably benign
R5973:Xaf1 UTSW 11 72,194,256 (GRCm39) missense probably damaging 0.98
R6786:Xaf1 UTSW 11 72,197,461 (GRCm39) missense probably benign 0.00
R7199:Xaf1 UTSW 11 72,194,201 (GRCm39) nonsense probably null
R9055:Xaf1 UTSW 11 72,194,266 (GRCm39) missense probably damaging 1.00
R9085:Xaf1 UTSW 11 72,197,419 (GRCm39) missense probably benign 0.09
R9300:Xaf1 UTSW 11 72,192,517 (GRCm39) missense probably benign 0.22
R9331:Xaf1 UTSW 11 72,197,470 (GRCm39) missense probably damaging 0.98
Z1186:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1186:Xaf1 UTSW 11 72,199,849 (GRCm39) frame shift probably null
Z1186:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1186:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1186:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1186:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1186:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1186:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1186:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1187:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1187:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1187:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1187:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1187:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1187:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1187:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1187:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1188:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1188:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1188:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1188:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1188:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1188:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1188:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1188:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1189:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1189:Xaf1 UTSW 11 72,199,847 (GRCm39) frame shift probably null
Z1189:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1189:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1189:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1189:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1189:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1189:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1189:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1190:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1190:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1190:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1190:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1190:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1190:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1190:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1190:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1191:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Z1191:Xaf1 UTSW 11 72,199,849 (GRCm39) frame shift probably null
Z1191:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1191:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1191:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1191:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1191:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1191:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1191:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1192:Xaf1 UTSW 11 72,199,849 (GRCm39) frame shift probably null
Z1192:Xaf1 UTSW 11 72,199,847 (GRCm39) frame shift probably null
Z1192:Xaf1 UTSW 11 72,199,846 (GRCm39) frame shift probably null
Z1192:Xaf1 UTSW 11 72,199,792 (GRCm39) missense unknown
Z1192:Xaf1 UTSW 11 72,199,476 (GRCm39) missense probably benign
Z1192:Xaf1 UTSW 11 72,197,434 (GRCm39) missense probably benign
Z1192:Xaf1 UTSW 11 72,197,429 (GRCm39) missense probably damaging 1.00
Z1192:Xaf1 UTSW 11 72,197,426 (GRCm39) missense probably benign 0.19
Z1192:Xaf1 UTSW 11 72,199,881 (GRCm39) missense unknown
Z1192:Xaf1 UTSW 11 72,199,856 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- GAGTCTTCTAGCGAAGTTAGCTG -3'
(R):5'- CCCAGACTTCAAAGGCAGAG -3'

Sequencing Primer
(F):5'- TCTTCAGGCTTGACAAGAAGC -3'
(R):5'- AGAGCCACAGTGCCATTTTG -3'
Posted On 2018-05-21