Incidental Mutation 'R6273:Xab2'
ID 507465
Institutional Source Beutler Lab
Gene Symbol Xab2
Ensembl Gene ENSMUSG00000019470
Gene Name XPA binding protein 2
Synonyms 0610041O14Rik
MMRRC Submission 044443-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6273 (G1)
Quality Score 225.009
Status Validated
Chromosome 8
Chromosomal Location 3660089-3671311 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 3661822 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glycine to Serine at position 544 (G544S)
Ref Sequence ENSEMBL: ENSMUSP00000019614 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000019614] [ENSMUST00000057028] [ENSMUST00000159235] [ENSMUST00000208240] [ENSMUST00000171962] [ENSMUST00000207077] [ENSMUST00000207432] [ENSMUST00000207970] [ENSMUST00000207712] [ENSMUST00000207533]
AlphaFold Q9DCD2
Predicted Effect probably damaging
Transcript: ENSMUST00000019614
AA Change: G544S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000019614
Gene: ENSMUSG00000019470
AA Change: G544S

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 probably benign
Transcript: ENSMUST00000057028
SMART Domains Protein: ENSMUSP00000058958
Gene: ENSMUSG00000044433

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CH 166 315 5.5e-27 PFAM
Pfam:CAMSAP_CH 214 296 1.2e-29 PFAM
low complexity region 359 373 N/A INTRINSIC
coiled coil region 595 633 N/A INTRINSIC
low complexity region 645 655 N/A INTRINSIC
coiled coil region 696 727 N/A INTRINSIC
low complexity region 749 779 N/A INTRINSIC
low complexity region 828 837 N/A INTRINSIC
low complexity region 866 881 N/A INTRINSIC
coiled coil region 900 943 N/A INTRINSIC
low complexity region 944 965 N/A INTRINSIC
low complexity region 1002 1024 N/A INTRINSIC
CAMSAP_CKK 1111 1240 1.29e-86 SMART
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 probably benign
Transcript: ENSMUST00000159548
SMART Domains Protein: ENSMUSP00000124202
Gene: ENSMUSG00000019470

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 probably benign
Transcript: ENSMUST00000208240
Predicted Effect probably benign
Transcript: ENSMUST00000171962
SMART Domains Protein: ENSMUSP00000125993
Gene: ENSMUSG00000044433

DomainStartEndE-ValueType
low complexity region 30 45 N/A INTRINSIC
low complexity region 90 109 N/A INTRINSIC
Pfam:CAMSAP_CH 214 296 6e-31 PFAM
low complexity region 360 374 N/A INTRINSIC
Pfam:CAMSAP_CC1 587 645 1.1e-27 PFAM
low complexity region 646 656 N/A INTRINSIC
coiled coil region 697 728 N/A INTRINSIC
low complexity region 750 780 N/A INTRINSIC
low complexity region 829 838 N/A INTRINSIC
low complexity region 867 882 N/A INTRINSIC
coiled coil region 901 944 N/A INTRINSIC
low complexity region 945 966 N/A INTRINSIC
low complexity region 1003 1025 N/A INTRINSIC
CAMSAP_CKK 1112 1241 1.29e-86 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000207077
Predicted Effect probably benign
Transcript: ENSMUST00000207432
Predicted Effect probably benign
Transcript: ENSMUST00000207970
Predicted Effect noncoding transcript
Transcript: ENSMUST00000208064
Predicted Effect probably benign
Transcript: ENSMUST00000207712
Predicted Effect probably benign
Transcript: ENSMUST00000207152
Predicted Effect noncoding transcript
Transcript: ENSMUST00000207930
Predicted Effect noncoding transcript
Transcript: ENSMUST00000163038
Predicted Effect probably benign
Transcript: ENSMUST00000207533
Meta Mutation Damage Score 0.3838 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.0%
  • 20x: 94.2%
Validation Efficiency 98% (78/80)
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: 78 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
0610040J01Rik T A 5: 64,055,561 (GRCm39) I99N probably damaging Het
Ank3 G A 10: 69,838,395 (GRCm39) R1566K possibly damaging Het
Ankrd31 A G 13: 96,988,181 (GRCm39) I1065V possibly damaging Het
Aox1 A G 1: 58,378,831 (GRCm39) T1027A probably benign Het
Atm G A 9: 53,399,222 (GRCm39) P1593L probably benign Het
Atp13a5 T G 16: 29,167,555 (GRCm39) I132L probably benign Het
BC035044 A G 6: 128,867,852 (GRCm39) probably benign Het
Cadm3 CT C 1: 173,176,691 (GRCm39) probably benign Homo
Car3 C T 3: 14,936,677 (GRCm39) P247S probably benign Het
Ccdc7a T C 8: 129,513,819 (GRCm39) Y160C probably damaging Het
Cd1d1 A G 3: 86,905,564 (GRCm39) V143A probably benign Het
Cemip2 T A 19: 21,779,369 (GRCm39) V393E probably damaging Het
Cog6 A T 3: 52,903,473 (GRCm39) F142I probably damaging Het
Cracd A T 5: 77,005,568 (GRCm39) D643V unknown Het
Crhr1 T G 11: 104,054,682 (GRCm39) N98K possibly damaging Het
Csf1 A G 3: 107,656,479 (GRCm39) V72A probably damaging Het
Cwc15 T A 9: 14,421,537 (GRCm39) I201K probably benign Het
Dgka T C 10: 128,559,515 (GRCm39) K482R probably benign Het
Dnah7b T C 1: 46,281,476 (GRCm39) S2846P possibly damaging Het
Dst T A 1: 34,314,347 (GRCm39) I4199N probably damaging Het
Dusp7 A G 9: 106,251,095 (GRCm39) T407A possibly damaging Het
Eml2 G A 7: 18,935,088 (GRCm39) V432I probably damaging Het
Fem1a T C 17: 56,564,083 (GRCm39) Y59H possibly damaging Het
Fetub C T 16: 22,751,081 (GRCm39) R143C probably damaging Het
Filip1 A T 9: 79,723,168 (GRCm39) D1150E probably benign Het
Gabra1 A G 11: 42,031,138 (GRCm39) V264A probably damaging Het
Gm4131 T C 14: 62,702,299 (GRCm39) E223G probably damaging Het
Gon4l T C 3: 88,763,156 (GRCm39) V333A probably damaging Het
Gsk3b A G 16: 38,028,408 (GRCm39) T289A probably benign Het
Hmcn2 T C 2: 31,301,846 (GRCm39) S2912P probably damaging Het
Htr7 A T 19: 36,018,969 (GRCm39) probably benign Het
Ibsp A G 5: 104,458,167 (GRCm39) T235A probably benign Het
Ints13 A T 6: 146,467,179 (GRCm39) D116E probably damaging Het
Irag1 G T 7: 110,470,790 (GRCm39) H848N probably benign Het
Kctd19 T C 8: 106,112,117 (GRCm39) N753S probably benign Het
Mdn1 A G 4: 32,715,979 (GRCm39) N2054D probably benign Het
Mink1 A T 11: 70,502,261 (GRCm39) K880* probably null Het
Myo15b T A 11: 115,753,625 (GRCm39) L824Q possibly damaging Het
Napepld T C 5: 21,870,320 (GRCm39) E366G probably benign Het
Obscn T A 11: 58,967,819 (GRCm39) T2662S possibly damaging Het
Or2g7 T G 17: 38,378,686 (GRCm39) L208R probably damaging Het
Or2n1b T A 17: 38,459,833 (GRCm39) M118K possibly damaging Het
Or4k52 T C 2: 111,611,567 (GRCm39) F301L probably benign Het
Or52p1 A G 7: 104,267,102 (GRCm39) D72G probably damaging Het
Or5b12 A G 19: 12,896,764 (GRCm39) V303A probably benign Het
Or6d13 A G 6: 116,518,277 (GRCm39) T288A possibly damaging Het
Pah T C 10: 87,412,077 (GRCm39) probably null Het
Panx3 T G 9: 37,578,725 (GRCm39) I85L probably benign Het
Pate4 T C 9: 35,519,086 (GRCm39) N94D probably benign Het
Pde4d A G 13: 110,086,755 (GRCm39) M610V possibly damaging Het
Pik3c2b T C 1: 132,994,449 (GRCm39) S138P probably benign Het
Pkn1 T C 8: 84,398,899 (GRCm39) N696S probably damaging Het
Plppr2 A G 9: 21,855,801 (GRCm39) E258G probably damaging Het
Plxnd1 A T 6: 115,955,453 (GRCm39) M538K probably damaging Het
Prepl G T 17: 85,390,696 (GRCm39) N87K probably benign Het
Prkag2 C A 5: 25,152,534 (GRCm39) R190L probably damaging Het
Rara A G 11: 98,861,048 (GRCm39) T179A probably benign Het
Rfx7 A G 9: 72,524,279 (GRCm39) K490E possibly damaging Het
Rgsl1 C T 1: 153,703,211 (GRCm39) V147M possibly damaging Het
Rph3a A G 5: 121,083,485 (GRCm39) I595T possibly damaging Het
Rsf1 CG CGACGGCGGTG 7: 97,229,115 (GRCm39) probably benign Homo
Slc35e2 C T 4: 155,694,483 (GRCm39) P10L probably benign Het
Slc8a2 T C 7: 15,879,259 (GRCm39) F582L possibly damaging Het
Sprr2e A G 3: 92,260,171 (GRCm39) M1V probably null Het
Steap1 T A 5: 5,790,827 (GRCm39) R40S possibly damaging Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Thsd7a A T 6: 12,408,835 (GRCm39) V729E probably damaging Het
Tmprss13 A G 9: 45,256,630 (GRCm39) Y525C probably damaging Het
Tnik A T 3: 28,631,649 (GRCm39) H383L possibly damaging Het
Vars1 T C 17: 35,232,719 (GRCm39) L881S probably damaging Het
Vmn1r201 A C 13: 22,659,385 (GRCm39) S200R probably damaging Het
Vmn2r130 A T 17: 23,295,759 (GRCm39) H643L probably benign Het
Vmn2r14 A T 5: 109,369,133 (GRCm39) W147R probably benign Het
Vps53 T C 11: 75,992,844 (GRCm39) E367G probably benign Het
Ythdf3 T A 3: 16,259,020 (GRCm39) V400E possibly damaging Het
Zfand5 C T 19: 21,257,060 (GRCm39) P147S probably benign Het
Zfp768 A T 7: 126,944,319 (GRCm39) probably null Het
Zswim8 A G 14: 20,763,521 (GRCm39) M423V probably benign Het
Other mutations in Xab2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00924:Xab2 APN 8 3,661,723 (GRCm39) missense probably damaging 1.00
IGL01308:Xab2 APN 8 3,666,332 (GRCm39) missense probably benign 0.07
IGL01324:Xab2 APN 8 3,671,232 (GRCm39) missense possibly damaging 0.80
IGL01340:Xab2 APN 8 3,664,381 (GRCm39) missense probably damaging 1.00
IGL01613:Xab2 APN 8 3,660,880 (GRCm39) missense probably benign 0.01
IGL02622:Xab2 APN 8 3,661,699 (GRCm39) missense probably benign 0.01
IGL02809:Xab2 APN 8 3,660,175 (GRCm39) missense probably benign 0.00
R0066:Xab2 UTSW 8 3,663,880 (GRCm39) missense probably damaging 1.00
R0066:Xab2 UTSW 8 3,663,880 (GRCm39) missense probably damaging 1.00
R0544:Xab2 UTSW 8 3,660,994 (GRCm39) missense probably damaging 1.00
R0607:Xab2 UTSW 8 3,663,605 (GRCm39) missense probably benign 0.05
R0735:Xab2 UTSW 8 3,663,649 (GRCm39) missense possibly damaging 0.50
R0943:Xab2 UTSW 8 3,663,667 (GRCm39) missense probably benign 0.00
R1507:Xab2 UTSW 8 3,666,031 (GRCm39) missense possibly damaging 0.93
R1664:Xab2 UTSW 8 3,669,068 (GRCm39) splice site probably null
R1954:Xab2 UTSW 8 3,666,094 (GRCm39) missense probably damaging 0.96
R1955:Xab2 UTSW 8 3,666,094 (GRCm39) missense probably damaging 0.96
R3767:Xab2 UTSW 8 3,669,053 (GRCm39) missense probably damaging 1.00
R4399:Xab2 UTSW 8 3,664,244 (GRCm39) critical splice donor site probably null
R4421:Xab2 UTSW 8 3,664,244 (GRCm39) critical splice donor site probably null
R4440:Xab2 UTSW 8 3,666,353 (GRCm39) missense probably benign 0.01
R4553:Xab2 UTSW 8 3,661,015 (GRCm39) missense probably benign 0.00
R4580:Xab2 UTSW 8 3,660,162 (GRCm39) missense probably damaging 1.00
R4608:Xab2 UTSW 8 3,668,105 (GRCm39) missense probably benign 0.23
R4707:Xab2 UTSW 8 3,668,117 (GRCm39) missense possibly damaging 0.92
R5522:Xab2 UTSW 8 3,661,718 (GRCm39) missense probably benign 0.06
R6063:Xab2 UTSW 8 3,663,051 (GRCm39) missense possibly damaging 0.93
R6487:Xab2 UTSW 8 3,663,879 (GRCm39) missense possibly damaging 0.75
R7140:Xab2 UTSW 8 3,668,117 (GRCm39) missense possibly damaging 0.92
R7648:Xab2 UTSW 8 3,660,638 (GRCm39) missense probably benign 0.00
R7767:Xab2 UTSW 8 3,669,018 (GRCm39) missense probably benign 0.08
R7992:Xab2 UTSW 8 3,668,622 (GRCm39) missense possibly damaging 0.81
R8116:Xab2 UTSW 8 3,663,830 (GRCm39) missense probably damaging 1.00
R8193:Xab2 UTSW 8 3,663,389 (GRCm39) missense probably benign
R8717:Xab2 UTSW 8 3,663,845 (GRCm39) missense probably benign 0.14
R8759:Xab2 UTSW 8 3,661,672 (GRCm39) missense probably benign
R8840:Xab2 UTSW 8 3,663,254 (GRCm39) missense probably benign 0.18
R8952:Xab2 UTSW 8 3,663,875 (GRCm39) missense probably damaging 1.00
R9044:Xab2 UTSW 8 3,668,641 (GRCm39) missense probably benign 0.21
R9287:Xab2 UTSW 8 3,663,000 (GRCm39) missense possibly damaging 0.94
R9596:Xab2 UTSW 8 3,663,018 (GRCm39) missense probably damaging 0.96
R9799:Xab2 UTSW 8 3,668,182 (GRCm39) missense probably benign 0.28
Z1176:Xab2 UTSW 8 3,668,969 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACAAGGGTCCAGTTAGCAGC -3'
(R):5'- TTGTCCATGAGGTATCAGACTG -3'

Sequencing Primer
(F):5'- TTAGCAGCGCGCCACTC -3'
(R):5'- GTGTTTAGAAAGTCCCTATTGCACC -3'
Posted On 2018-03-15