Incidental Mutation 'R7727:Ubn2'
ID 595554
Institutional Source Beutler Lab
Gene Symbol Ubn2
Ensembl Gene ENSMUSG00000038538
Gene Name ubinuclein 2
Synonyms 2900060J04Rik, D130059P03Rik, 6030408G03Rik
MMRRC Submission 045783-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R7727 (G1)
Quality Score 225.009
Status Validated
Chromosome 6
Chromosomal Location 38410860-38489698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 38440873 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Lysine at position 416 (N416K)
Ref Sequence ENSEMBL: ENSMUSP00000036188 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039127] [ENSMUST00000160583] [ENSMUST00000162593]
AlphaFold Q80WC1
Predicted Effect probably benign
Transcript: ENSMUST00000039127
AA Change: N416K

PolyPhen 2 Score 0.079 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: N416K

DomainStartEndE-ValueType
low complexity region 34 57 N/A INTRINSIC
low complexity region 74 109 N/A INTRINSIC
Pfam:HUN 180 231 4.8e-22 PFAM
low complexity region 256 285 N/A INTRINSIC
low complexity region 294 309 N/A INTRINSIC
low complexity region 328 345 N/A INTRINSIC
low complexity region 389 399 N/A INTRINSIC
Pfam:UBN_AB 434 650 6.4e-80 PFAM
low complexity region 687 717 N/A INTRINSIC
low complexity region 822 833 N/A INTRINSIC
low complexity region 846 881 N/A INTRINSIC
low complexity region 1002 1042 N/A INTRINSIC
low complexity region 1156 1168 N/A INTRINSIC
low complexity region 1180 1199 N/A INTRINSIC
low complexity region 1247 1263 N/A INTRINSIC
low complexity region 1280 1297 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000160583
AA Change: N416K

PolyPhen 2 Score 0.013 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: N416K

DomainStartEndE-ValueType
low complexity region 34 57 N/A INTRINSIC
low complexity region 74 109 N/A INTRINSIC
Pfam:HUN 178 232 3.8e-23 PFAM
low complexity region 256 285 N/A INTRINSIC
low complexity region 294 309 N/A INTRINSIC
low complexity region 328 345 N/A INTRINSIC
low complexity region 389 399 N/A INTRINSIC
Pfam:UBN_AB 434 650 2.9e-86 PFAM
low complexity region 685 715 N/A INTRINSIC
low complexity region 820 831 N/A INTRINSIC
low complexity region 844 879 N/A INTRINSIC
low complexity region 1000 1040 N/A INTRINSIC
low complexity region 1154 1166 N/A INTRINSIC
low complexity region 1178 1197 N/A INTRINSIC
low complexity region 1245 1261 N/A INTRINSIC
low complexity region 1278 1295 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000162593
AA Change: N248K

PolyPhen 2 Score 0.134 (Sensitivity: 0.92; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: N248K

DomainStartEndE-ValueType
Pfam:HUN 10 64 4.4e-24 PFAM
low complexity region 88 117 N/A INTRINSIC
low complexity region 126 141 N/A INTRINSIC
low complexity region 160 177 N/A INTRINSIC
low complexity region 221 231 N/A INTRINSIC
Pfam:UBN_AB 266 482 3.1e-87 PFAM
low complexity region 534 564 N/A INTRINSIC
low complexity region 669 680 N/A INTRINSIC
low complexity region 693 728 N/A INTRINSIC
low complexity region 849 889 N/A INTRINSIC
low complexity region 1003 1015 N/A INTRINSIC
low complexity region 1027 1039 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (69/69)
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 69 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts5 A T 16: 85,696,854 (GRCm39) L101Q probably damaging Het
Arhgap18 A T 10: 26,746,007 (GRCm39) I293F possibly damaging Het
Atp8b1 T A 18: 64,678,346 (GRCm39) Q850L probably damaging Het
B4galnt3 A T 6: 120,202,148 (GRCm39) F118Y probably benign Het
Bcl6 A G 16: 23,790,163 (GRCm39) probably null Het
Cc2d2b T A 19: 40,744,974 (GRCm39) L31Q probably benign Het
Cd5l G T 3: 87,275,162 (GRCm39) E234* probably null Het
Cemip2 C T 19: 21,807,321 (GRCm39) L917F probably benign Het
Cfap65 T C 1: 74,965,784 (GRCm39) T409A probably benign Het
Chst5 A T 8: 112,617,557 (GRCm39) I21N probably benign Het
Cldn20 T C 17: 3,583,030 (GRCm39) Y68H probably benign Het
Col4a4 T C 1: 82,506,514 (GRCm39) M269V unknown Het
Dgkh A G 14: 78,832,585 (GRCm39) probably null Het
Dpp6 A G 5: 27,656,242 (GRCm39) T166A probably benign Het
Drosha A G 15: 12,881,731 (GRCm39) D754G probably damaging Het
Epb41l4a C A 18: 33,987,326 (GRCm39) K350N probably damaging Het
Fsd1 T G 17: 56,295,150 (GRCm39) D46E probably benign Het
Gabra1 T C 11: 42,024,418 (GRCm39) D419G probably damaging Het
Golga4 T A 9: 118,377,770 (GRCm39) D458E probably damaging Het
Grm6 C A 11: 50,742,369 (GRCm39) A134E probably benign Het
Ikzf1 T A 11: 11,698,339 (GRCm39) S63R probably damaging Het
Ilvbl G A 10: 78,412,500 (GRCm39) V74I probably benign Het
Kcng2 C T 18: 80,339,305 (GRCm39) V328M probably benign Het
Kpna7 T C 5: 144,941,855 (GRCm39) E145G probably benign Het
Krt81 A G 15: 101,357,448 (GRCm39) V428A probably damaging Het
Lalba T C 15: 98,380,549 (GRCm39) M2V probably benign Het
Lrpprc T C 17: 85,084,375 (GRCm39) S113G probably benign Het
Mboat1 A C 13: 30,410,289 (GRCm39) M249L probably benign Het
Meltf T C 16: 31,702,612 (GRCm39) V113A probably damaging Het
Muc16 T A 9: 18,571,538 (GRCm39) H327L unknown Het
Myh1 A G 11: 67,106,748 (GRCm39) I1277V probably benign Het
Naf1 GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC GCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCTGCCAGCCCCGAACTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAGCTCGGATCCCGGCGGAAGACCACCGCCGCCGCCAGCCCCGAACTGGGATGCGGGCGGAAGACCACCACCGCCGCCAGCCCCGAACTCGGATCCCGGCGGAAGACC 8: 67,313,200 (GRCm39) probably benign Het
Naga C A 15: 82,214,348 (GRCm39) V388L probably benign Het
Nfkb1 A C 3: 135,291,162 (GRCm39) M957R possibly damaging Het
Nol12 C A 15: 78,824,793 (GRCm39) S157* probably null Het
Or13c25 A G 4: 52,911,368 (GRCm39) V142A possibly damaging Het
Or5g23 A G 2: 85,438,751 (GRCm39) F168L possibly damaging Het
Or8u3-ps A T 2: 85,952,840 (GRCm39) D191V possibly damaging Het
Pcdhga5 T C 18: 37,828,098 (GRCm39) V182A probably benign Het
Pik3r4 A G 9: 105,547,081 (GRCm39) E953G probably damaging Het
Piwil2 C T 14: 70,631,506 (GRCm39) R646Q probably damaging Het
Plxnc1 T C 10: 94,779,971 (GRCm39) H157R probably damaging Het
Prrg4 A T 2: 104,669,723 (GRCm39) F131L probably benign Het
Prss3b C A 6: 41,010,127 (GRCm39) R69L probably benign Het
Rab28 A G 5: 41,865,313 (GRCm39) S4P probably damaging Het
Ranbp2 C A 10: 58,291,260 (GRCm39) Q209K probably benign Het
Schip1 G A 3: 67,972,317 (GRCm39) D15N probably benign Het
Serpina3f T G 12: 104,184,477 (GRCm39) M207R probably benign Het
Sgsm1 A T 5: 113,422,193 (GRCm39) M487K possibly damaging Het
Sh3tc2 A T 18: 62,122,651 (GRCm39) I471F probably benign Het
Slamf1 G A 1: 171,602,467 (GRCm39) V65I possibly damaging Het
Slit3 T C 11: 35,574,871 (GRCm39) C1062R probably damaging Het
Snapc4 T G 2: 26,263,446 (GRCm39) K344N probably damaging Het
Sorl1 A G 9: 41,895,822 (GRCm39) Y1778H probably damaging Het
Spon2 G A 5: 33,373,019 (GRCm39) R228C probably damaging Het
Sv2c A G 13: 96,113,203 (GRCm39) I582T possibly damaging Het
Tamm41 C T 6: 114,993,139 (GRCm39) V205M probably damaging Het
Trpm2 T C 10: 77,761,623 (GRCm39) D1009G probably benign Het
Trpm6 T C 19: 18,831,613 (GRCm39) S1493P probably damaging Het
Ttc34 G A 4: 154,923,731 (GRCm39) V147I possibly damaging Het
Tut7 A G 13: 59,947,496 (GRCm39) F942L probably benign Het
Uba2 C T 7: 33,850,275 (GRCm39) A393T probably damaging Het
Uevld T C 7: 46,593,553 (GRCm39) N233S probably benign Het
Upp2 G A 2: 58,664,160 (GRCm39) M142I possibly damaging Het
Vps52 T A 17: 34,181,108 (GRCm39) V450D probably benign Het
Wdr31 A T 4: 62,378,873 (GRCm39) F118Y probably damaging Het
Zfp110 T A 7: 12,582,922 (GRCm39) D523E possibly damaging Het
Zfp367 A T 13: 64,293,457 (GRCm39) V143D probably damaging Het
Zfp950 T C 19: 61,108,379 (GRCm39) I235V probably benign Het
Other mutations in Ubn2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00990:Ubn2 APN 6 38,459,540 (GRCm39) missense possibly damaging 0.91
IGL03116:Ubn2 APN 6 38,468,834 (GRCm39) missense probably damaging 1.00
IGL03150:Ubn2 APN 6 38,440,649 (GRCm39) missense probably benign
IGL03382:Ubn2 APN 6 38,417,382 (GRCm39) unclassified probably benign
A4554:Ubn2 UTSW 6 38,461,045 (GRCm39) missense probably damaging 1.00
R0008:Ubn2 UTSW 6 38,411,535 (GRCm39) critical splice donor site probably null
R0034:Ubn2 UTSW 6 38,468,341 (GRCm39) synonymous silent
R0121:Ubn2 UTSW 6 38,429,793 (GRCm39) splice site probably benign
R0267:Ubn2 UTSW 6 38,459,553 (GRCm39) critical splice donor site probably null
R1864:Ubn2 UTSW 6 38,417,425 (GRCm39) missense possibly damaging 0.93
R1865:Ubn2 UTSW 6 38,417,425 (GRCm39) missense possibly damaging 0.93
R1892:Ubn2 UTSW 6 38,468,226 (GRCm39) missense probably damaging 1.00
R2174:Ubn2 UTSW 6 38,447,076 (GRCm39) splice site probably null
R2184:Ubn2 UTSW 6 38,461,029 (GRCm39) missense probably damaging 1.00
R2212:Ubn2 UTSW 6 38,475,674 (GRCm39) missense probably benign 0.03
R2442:Ubn2 UTSW 6 38,467,940 (GRCm39) missense probably benign 0.00
R3413:Ubn2 UTSW 6 38,475,674 (GRCm39) missense probably benign 0.03
R4725:Ubn2 UTSW 6 38,499,240 (GRCm39) utr 3 prime probably benign
R4765:Ubn2 UTSW 6 38,456,075 (GRCm39) missense probably damaging 1.00
R4771:Ubn2 UTSW 6 38,464,088 (GRCm39) splice site probably null
R4812:Ubn2 UTSW 6 38,440,661 (GRCm39) missense probably benign
R4934:Ubn2 UTSW 6 38,467,433 (GRCm39) missense probably benign 0.04
R5580:Ubn2 UTSW 6 38,460,187 (GRCm39) missense probably damaging 0.99
R5598:Ubn2 UTSW 6 38,467,323 (GRCm39) missense probably benign 0.00
R5672:Ubn2 UTSW 6 38,438,462 (GRCm39) missense probably damaging 1.00
R5715:Ubn2 UTSW 6 38,438,412 (GRCm39) nonsense probably null
R5817:Ubn2 UTSW 6 38,456,088 (GRCm39) missense probably damaging 1.00
R5919:Ubn2 UTSW 6 38,468,423 (GRCm39) missense possibly damaging 0.50
R5937:Ubn2 UTSW 6 38,440,917 (GRCm39) missense possibly damaging 0.74
R6033:Ubn2 UTSW 6 38,447,159 (GRCm39) critical splice donor site probably null
R6033:Ubn2 UTSW 6 38,447,159 (GRCm39) critical splice donor site probably null
R6174:Ubn2 UTSW 6 38,438,471 (GRCm39) missense probably damaging 1.00
R6338:Ubn2 UTSW 6 38,467,649 (GRCm39) missense probably benign 0.00
R6653:Ubn2 UTSW 6 38,411,397 (GRCm39) missense possibly damaging 0.72
R7282:Ubn2 UTSW 6 38,429,811 (GRCm39) nonsense probably null
R7685:Ubn2 UTSW 6 38,468,727 (GRCm39) missense probably benign 0.02
R7777:Ubn2 UTSW 6 38,467,688 (GRCm39) missense probably damaging 1.00
R8074:Ubn2 UTSW 6 38,417,475 (GRCm39) missense probably benign 0.13
R8218:Ubn2 UTSW 6 38,466,214 (GRCm39) missense probably benign 0.01
R8283:Ubn2 UTSW 6 38,475,663 (GRCm39) missense probably damaging 1.00
R9339:Ubn2 UTSW 6 38,460,079 (GRCm39) missense probably benign 0.17
R9781:Ubn2 UTSW 6 38,466,190 (GRCm39) missense probably benign
RF024:Ubn2 UTSW 6 38,440,563 (GRCm39) missense probably damaging 1.00
X0010:Ubn2 UTSW 6 38,460,055 (GRCm39) missense possibly damaging 0.80
Predicted Primers PCR Primer
(F):5'- TCTGAACAGTGCTGACCCAG -3'
(R):5'- TGTACATAGCCAGCATCTAAAACAG -3'

Sequencing Primer
(F):5'- AGTGCTGACCCAGACCTC -3'
(R):5'- GCCAGCATCTAAAACAGATTATGG -3'
Posted On 2019-11-12