Incidental Mutation 'IGL01340:Xab2'
ID74820
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Xab2
Ensembl Gene ENSMUSG00000019470
Gene NameXPA binding protein 2
Synonyms0610041O14Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01340
Quality Score
Status
Chromosome8
Chromosomal Location3608421-3621316 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 3614381 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 277 (D277E)
Ref Sequence ENSEMBL: ENSMUSP00000019614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000159235]
Predicted Effect probably damaging
Transcript: ENSMUST00000019614
AA Change: D277E

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: D277E

DomainStartEndE-ValueType
HAT 48 80 7.56e0 SMART
HAT 93 122 1.92e2 SMART
HAT 124 158 4.89e-2 SMART
HAT 270 305 3.82e-4 SMART
low complexity region 316 333 N/A INTRINSIC
HAT 409 445 1.88e1 SMART
HAT 447 496 2.32e2 SMART
HAT 498 530 1.56e1 SMART
HAT 532 566 5.84e0 SMART
HAT 571 605 3.62e-5 SMART
Blast:HAT 607 641 3e-14 BLAST
Blast:HAT 643 677 2e-15 BLAST
HAT 679 713 2.77e-1 SMART
low complexity region 771 785 N/A INTRINSIC
low complexity region 823 836 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000122654
Predicted Effect probably benign
Transcript: ENSMUST00000159235
SMART Domains Protein: ENSMUSP00000124237
Gene: ENSMUSG00000019470

DomainStartEndE-ValueType
Blast:HAT 12 47 2e-13 BLAST
Predicted Effect unknown
Transcript: ENSMUST00000159548
AA Change: D263E
SMART Domains Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470
AA Change: D263E

DomainStartEndE-ValueType
Blast:HAT 10 44 4e-12 BLAST
HAT 46 78 7.56e0 SMART
HAT 91 120 1.92e2 SMART
HAT 122 156 4.89e-2 SMART
Blast:HAT 157 190 4e-12 BLAST
Pfam:TPR_2 243 272 2.2e-6 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000159909
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163038
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null embryos die by the blastocyst stage (E3.5) and some eight-cell stage embryos do not undergo compaction. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700022I11Rik A C 4: 42,971,984 E439A possibly damaging Het
Abca9 T A 11: 110,130,627 I1086L probably benign Het
Adam17 A T 12: 21,330,057 C630* probably null Het
Adgrg5 T C 8: 94,937,629 L289P probably damaging Het
Aplp1 G A 7: 30,444,418 T64I probably damaging Het
Bdh1 T A 16: 31,456,843 W261R probably damaging Het
Cadm2 A T 16: 66,784,785 I202N possibly damaging Het
Cd209c C T 8: 3,945,892 R6H probably benign Het
Cfap221 T A 1: 119,953,620 I371F possibly damaging Het
Cfap44 A G 16: 44,404,130 Y67C probably damaging Het
Cilp T C 9: 65,275,974 S387P probably damaging Het
Cnot1 T C 8: 95,760,537 D598G probably damaging Het
Col5a1 T C 2: 27,960,451 L520P unknown Het
Cpvl A T 6: 53,896,451 Y433* probably null Het
Cxcl1 G T 5: 90,891,575 C59F probably damaging Het
Cyth3 T A 5: 143,684,435 L33* probably null Het
Dnah2 T C 11: 69,493,184 K1069E probably damaging Het
Drosha T A 15: 12,834,023 probably benign Het
Fam83h T A 15: 76,004,036 D484V probably damaging Het
Igsf3 C A 3: 101,439,679 Y663* probably null Het
Kmt5c C T 7: 4,742,141 R44* probably null Het
Kxd1 T C 8: 70,515,443 probably null Het
Lars A G 18: 42,202,577 V1158A probably benign Het
Lmf2 A G 15: 89,352,872 F413S probably damaging Het
Mc4r C T 18: 66,859,158 A295T probably benign Het
Mrc1 T C 2: 14,310,084 probably null Het
Mtmr7 T C 8: 40,597,422 Y110C probably damaging Het
Myd88 A C 9: 119,337,352 probably benign Het
Ndc1 T C 4: 107,374,147 V95A probably damaging Het
Ntrk1 T A 3: 87,788,714 E163V possibly damaging Het
Olfr1208 T C 2: 88,896,977 T207A probably damaging Het
Pappa A T 4: 65,323,872 D1491V possibly damaging Het
Phc3 T A 3: 30,929,884 I673F possibly damaging Het
Pkhd1 A T 1: 20,522,977 N1637K probably benign Het
Relb T C 7: 19,616,373 I218V probably benign Het
Rgma T C 7: 73,417,330 F111S probably damaging Het
Slco1a6 A T 6: 142,109,383 N278K possibly damaging Het
Slfn9 A T 11: 82,981,751 F720I probably benign Het
Snd1 T A 6: 28,883,369 V741E probably benign Het
Snx6 C T 12: 54,754,309 R185Q probably damaging Het
Telo2 G A 17: 25,100,129 probably benign Het
Wdr91 A G 6: 34,904,579 S278P probably benign Het
Zbbx T C 3: 75,105,650 E158G possibly damaging Het
Other mutations in Xab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Xab2 APN 8 3611723 missense probably damaging 1.00
IGL01308:Xab2 APN 8 3616332 missense probably benign 0.07
IGL01324:Xab2 APN 8 3621232 missense possibly damaging 0.80
IGL01613:Xab2 APN 8 3610880 missense probably benign 0.01
IGL02622:Xab2 APN 8 3611699 missense probably benign 0.01
IGL02809:Xab2 APN 8 3610175 missense probably benign 0.00
R0066:Xab2 UTSW 8 3613880 missense probably damaging 1.00
R0066:Xab2 UTSW 8 3613880 missense probably damaging 1.00
R0544:Xab2 UTSW 8 3610994 missense probably damaging 1.00
R0607:Xab2 UTSW 8 3613605 missense probably benign 0.05
R0735:Xab2 UTSW 8 3613649 missense possibly damaging 0.50
R0943:Xab2 UTSW 8 3613667 missense probably benign 0.00
R1507:Xab2 UTSW 8 3616031 missense possibly damaging 0.93
R1664:Xab2 UTSW 8 3619068 unclassified probably null
R1954:Xab2 UTSW 8 3616094 missense probably damaging 0.96
R1955:Xab2 UTSW 8 3616094 missense probably damaging 0.96
R3767:Xab2 UTSW 8 3619053 missense probably damaging 1.00
R4399:Xab2 UTSW 8 3614244 critical splice donor site probably null
R4421:Xab2 UTSW 8 3614244 critical splice donor site probably null
R4440:Xab2 UTSW 8 3616353 missense probably benign 0.01
R4553:Xab2 UTSW 8 3611015 missense probably benign 0.00
R4580:Xab2 UTSW 8 3610162 missense probably damaging 1.00
R4608:Xab2 UTSW 8 3618105 missense probably benign 0.23
R4707:Xab2 UTSW 8 3618117 missense possibly damaging 0.92
R5522:Xab2 UTSW 8 3611718 missense probably benign 0.06
R6063:Xab2 UTSW 8 3613051 missense possibly damaging 0.93
R6273:Xab2 UTSW 8 3611822 missense probably damaging 1.00
R6487:Xab2 UTSW 8 3613879 missense possibly damaging 0.75
R7140:Xab2 UTSW 8 3618117 missense possibly damaging 0.92
R7648:Xab2 UTSW 8 3610638 missense probably benign 0.00
R7767:Xab2 UTSW 8 3619018 missense probably benign 0.08
Z1176:Xab2 UTSW 8 3618969 missense probably damaging 1.00
Posted On2013-10-07