Incidental Mutation 'R0230:Xaf1'
ID 34068
Institutional Source Beutler Lab
Gene Symbol Xaf1
Ensembl Gene ENSMUSG00000040483
Gene Name XIAP associated factor 1
Synonyms
MMRRC Submission 038473-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.096) question?
Stock # R0230 (G1)
Quality Score 177
Status Validated
Chromosome 11
Chromosomal Location 72192455-72204559 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 72197381 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
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
SMART Domains Protein: ENSMUSP00000121472
Gene: ENSMUSG00000040483

DomainStartEndE-ValueType
PDB:2LXW|A 133 175 7e-13 PDB
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142921
Predicted Effect probably benign
Transcript: ENSMUST00000146233
SMART Domains Protein: ENSMUSP00000123011
Gene: ENSMUSG00000040483

DomainStartEndE-ValueType
PDB:2LXW|A 228 270 3e-12 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000151440
SMART Domains Protein: ENSMUSP00000121483
Gene: ENSMUSG00000040483

DomainStartEndE-ValueType
PDB:2LXW|A 133 165 7e-9 PDB
low complexity region 194 205 N/A INTRINSIC
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 95.7%
Validation Efficiency 100% (83/83)
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: 80 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy1 T C 3: 113,352,079 (GRCm39) D371G probably benign Het
Asrgl1 T A 19: 9,095,883 (GRCm39) probably benign Het
Asxl3 T A 18: 22,585,383 (GRCm39) probably benign Het
B3galnt1 T C 3: 69,482,673 (GRCm39) N196S possibly damaging Het
Bbof1 A G 12: 84,471,978 (GRCm39) H74R probably damaging Het
Bpifb9b C T 2: 154,158,995 (GRCm39) T504M probably damaging Het
Cdk12 T G 11: 98,094,817 (GRCm39) S208R probably damaging Het
Cdk5r1 T C 11: 80,368,576 (GRCm39) L81P probably damaging Het
Chrd T C 16: 20,552,025 (GRCm39) L43P probably benign Het
Col6a4 A C 9: 105,949,565 (GRCm39) M690R probably benign Het
Cyp39a1 A T 17: 44,042,903 (GRCm39) R418W probably damaging Het
Dars2 C T 1: 160,890,357 (GRCm39) V162M probably benign Het
Dixdc1 C T 9: 50,606,807 (GRCm39) V270M possibly damaging Het
Dnah11 C A 12: 117,946,791 (GRCm39) E1194* probably null Het
Dnah7b T C 1: 46,258,508 (GRCm39) S1900P probably damaging Het
Dnah9 C T 11: 65,746,141 (GRCm39) E3991K probably damaging Het
Dsp A T 13: 38,381,681 (GRCm39) I2210F probably benign Het
Ebf1 A G 11: 44,886,949 (GRCm39) S556G probably damaging Het
Enam G A 5: 88,637,514 (GRCm39) probably benign Het
Eno1b T C 18: 48,180,806 (GRCm39) I328T probably benign Het
Epc1 T C 18: 6,440,168 (GRCm39) D579G probably damaging Het
Ephb3 A T 16: 21,039,525 (GRCm39) I426F probably damaging Het
Fam135b T G 15: 71,317,886 (GRCm39) I1359L probably benign Het
Fcgbpl1 T A 7: 27,856,250 (GRCm39) H2012Q probably damaging Het
Gm16519 T C 17: 71,236,128 (GRCm39) S26P probably benign Het
Gm17622 T A 13: 96,627,594 (GRCm39) probably null Het
Gpat2 G A 2: 127,277,765 (GRCm39) V764I possibly damaging Het
Gpx4 G A 10: 79,890,838 (GRCm39) A81T probably benign Het
Gss C A 2: 155,420,326 (GRCm39) R83L probably damaging Het
Hcls1 C A 16: 36,758,216 (GRCm39) Q36K probably damaging Het
Hepacam2 A G 6: 3,463,336 (GRCm39) V438A probably benign Het
Hnf4a T C 2: 163,401,005 (GRCm39) F184S probably damaging Het
Katnal1 T A 5: 148,855,460 (GRCm39) D90V possibly damaging Het
Kcnt2 A G 1: 140,174,083 (GRCm39) D30G probably benign Het
Kyat1 T C 2: 30,084,087 (GRCm39) E11G probably benign Het
Lefty1 T A 1: 180,764,579 (GRCm39) V168E probably damaging Het
Map2k6 C T 11: 110,387,281 (GRCm39) P218S probably damaging Het
Mlkl C G 8: 112,041,694 (GRCm39) K415N probably benign Het
Myh7 A T 14: 55,211,390 (GRCm39) M1593K probably benign Het
Myo19 T A 11: 84,784,159 (GRCm39) C186S possibly damaging Het
Ngp T C 9: 110,249,069 (GRCm39) L47P probably damaging Het
Nkiras1 A G 14: 18,280,185 (GRCm38) N192S probably benign Het
Or1j17 G A 2: 36,578,628 (GRCm39) V205M probably benign Het
Or2n1 A G 17: 38,486,841 (GRCm39) I289V probably damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Or8u9 T C 2: 86,001,886 (GRCm39) I92V probably benign Het
Pdcd6ip A G 9: 113,514,361 (GRCm39) probably benign Het
Pde4b T C 4: 102,454,707 (GRCm39) Y186H probably benign Het
Pex7 A G 10: 19,780,331 (GRCm39) V101A possibly damaging Het
Phldb3 G A 7: 24,312,004 (GRCm39) R106Q probably benign Het
Plxnc1 A G 10: 94,635,209 (GRCm39) V1339A probably benign Het
Proser1 A G 3: 53,386,383 (GRCm39) N755S probably damaging Het
Ptpn13 A G 5: 103,674,997 (GRCm39) D658G probably damaging Het
Rassf8 A C 6: 145,765,700 (GRCm39) probably benign Het
Rfc4 G A 16: 22,932,849 (GRCm39) Q363* probably null Het
Rxfp1 T C 3: 79,552,282 (GRCm39) N673S probably damaging Het
Scn7a T C 2: 66,556,628 (GRCm39) E319G probably damaging Het
Scnn1g A G 7: 121,345,984 (GRCm39) probably benign Het
Scube2 C T 7: 109,423,971 (GRCm39) probably null Het
Slc4a4 A C 5: 89,304,195 (GRCm39) H502P possibly damaging Het
Slc6a13 A G 6: 121,301,262 (GRCm39) N184D probably benign Het
Slco1a5 T A 6: 142,182,054 (GRCm39) probably benign Het
Slf1 T A 13: 77,260,867 (GRCm39) probably benign Het
Smarca4 G A 9: 21,612,168 (GRCm39) V1518I probably damaging Het
Smyd3 A G 1: 179,250,993 (GRCm39) probably benign Het
Sox5 A G 6: 144,155,064 (GRCm39) F11L probably benign Het
Spag17 T C 3: 100,014,143 (GRCm39) S2139P probably benign Het
Spice1 A T 16: 44,185,939 (GRCm39) probably benign Het
Sptan1 T A 2: 29,900,704 (GRCm39) probably benign Het
Srebf2 T A 15: 82,066,286 (GRCm39) N571K probably damaging Het
Tbl3 A G 17: 24,920,307 (GRCm39) L670P probably damaging Het
Tmem45a2 A G 16: 56,867,359 (GRCm39) V114A possibly damaging Het
Tmigd3 A G 3: 105,826,053 (GRCm39) N132D possibly damaging Het
Ttn T C 2: 76,567,778 (GRCm39) D19378G probably damaging Het
Ugcg C A 4: 59,189,739 (GRCm39) Y32* probably null Het
Ush2a C T 1: 188,582,301 (GRCm39) P3788L probably damaging Het
Usp22 T A 11: 61,050,023 (GRCm39) probably benign Het
Zbtb41 C T 1: 139,374,673 (GRCm39) T711I probably damaging Het
Zfp457 T C 13: 67,442,180 (GRCm39) T132A possibly damaging Het
Zfp64 T G 2: 168,754,150 (GRCm39) probably benign Het
Other mutations in Xaf1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02457:Xaf1 APN 11 72,194,257 (GRCm39) missense possibly damaging 0.80
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
R6463:Xaf1 UTSW 11 72,199,464 (GRCm39) missense probably benign 0.01
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'- GTCGTCCAGTAAGCCTTTCCTGTG -3'
(R):5'- TCTGCCCAAAGGAAACCTTGGAAC -3'

Sequencing Primer
(F):5'- AAGCCTTTCCTGTGTGGCTAAG -3'
(R):5'- CGAAGTGTATCGAGAATCTGCTG -3'
Posted On 2013-05-09