Incidental Mutation 'R2174:Ubn2'
ID 237688
Institutional Source Beutler Lab
Gene Symbol Ubn2
Ensembl Gene ENSMUSG00000038538
Gene Name ubinuclein 2
Synonyms 2900060J04Rik, D130059P03Rik, 6030408G03Rik
MMRRC Submission 040176-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # R2174 (G1)
Quality Score 225
Status Validated
Chromosome 6
Chromosomal Location 38410860-38489698 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to A at 38447076 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000124352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039127] [ENSMUST00000160583] [ENSMUST00000162593]
AlphaFold Q80WC1
Predicted Effect probably null
Transcript: ENSMUST00000039127
SMART Domains Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538

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 null
Transcript: ENSMUST00000160583
SMART Domains Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538

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 noncoding transcript
Transcript: ENSMUST00000161280
Predicted Effect probably null
Transcript: ENSMUST00000162593
SMART Domains Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538

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
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
Validation Efficiency 99% (73/74)
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600014C10Rik T C 7: 37,894,252 (GRCm39) I95T possibly damaging Het
Adarb1 A G 10: 77,131,632 (GRCm39) I619T probably benign Het
Aldh2 T C 5: 121,710,731 (GRCm39) probably benign Het
Antxrl T A 14: 33,782,357 (GRCm39) L180Q probably damaging Het
Asnsd1 A T 1: 53,386,760 (GRCm39) I289N probably benign Het
Asxl3 T G 18: 22,586,701 (GRCm39) S164A possibly damaging Het
Cacnb2 C T 2: 14,963,578 (GRCm39) T108I probably benign Het
Capn2 A T 1: 182,307,290 (GRCm39) I516N probably benign Het
Ccdc59 A T 10: 105,677,388 (GRCm39) K9M possibly damaging Het
Cenpo T C 12: 4,267,318 (GRCm39) K73R probably benign Het
Cfap20dc T C 14: 8,558,109 (GRCm38) I159V probably benign Het
Clasp1 A G 1: 118,487,825 (GRCm39) H823R probably damaging Het
Col6a4 T C 9: 105,937,331 (GRCm39) D1395G probably damaging Het
Ddx60 A G 8: 62,409,175 (GRCm39) I404V probably damaging Het
Ddx60 G T 8: 62,470,234 (GRCm39) M1407I probably benign Het
Dennd3 A T 15: 73,427,154 (GRCm39) R844W probably damaging Het
Depdc1b A T 13: 108,498,787 (GRCm39) K157* probably null Het
Dnai7 T C 6: 145,120,896 (GRCm39) H641R probably damaging Het
Dnajc1 T C 2: 18,312,762 (GRCm39) D196G probably damaging Het
Fanca A G 8: 123,998,009 (GRCm39) W1226R probably benign Het
Fbxl13 A G 5: 21,787,046 (GRCm39) V297A possibly damaging Het
Fnta A T 8: 26,503,498 (GRCm39) F96I possibly damaging Het
Fzd3 T C 14: 65,449,680 (GRCm39) probably benign Het
Gckr T C 5: 31,484,353 (GRCm39) V597A possibly damaging Het
Gm43302 T C 5: 105,422,216 (GRCm39) K496R probably benign Het
Gm5283 A G 3: 17,285,005 (GRCm39) noncoding transcript Het
Gm6741 A G 17: 91,544,332 (GRCm39) I32V probably benign Het
Gnptab T A 10: 88,269,906 (GRCm39) F870I probably damaging Het
Gpx8 G A 13: 113,182,140 (GRCm39) P98S probably benign Het
Grm2 T C 9: 106,524,994 (GRCm39) I574V probably benign Het
Gtf3c5 T C 2: 28,457,787 (GRCm39) D468G probably benign Het
Hectd3 A T 4: 116,856,898 (GRCm39) M482L probably benign Het
Ier5 G T 1: 154,974,599 (GRCm39) P193H possibly damaging Het
Inpp4a A G 1: 37,435,211 (GRCm39) N827S probably damaging Het
Kif13a A G 13: 46,922,652 (GRCm39) L387P probably damaging Het
Map3k1 G C 13: 111,889,016 (GRCm39) H1314D possibly damaging Het
Mbl2 G A 19: 30,211,412 (GRCm39) C11Y possibly damaging Het
Msr1 A G 8: 40,084,381 (GRCm39) L58P probably damaging Het
Mtmr10 T A 7: 63,986,512 (GRCm39) F530Y possibly damaging Het
Myo7b A G 18: 32,116,610 (GRCm39) L999P probably damaging Het
Myoz3 T C 18: 60,723,296 (GRCm39) E8G probably benign Het
Naip6 C A 13: 100,435,495 (GRCm39) M1009I probably benign Het
Nav2 T A 7: 49,102,411 (GRCm39) M342K probably damaging Het
Ndufaf6 T C 4: 11,070,228 (GRCm39) H131R probably benign Het
Nlrp4a T C 7: 26,148,849 (GRCm39) L152P probably damaging Het
Or9s23 A G 1: 92,501,379 (GRCm39) N162S probably benign Het
Pan3 T C 5: 147,387,463 (GRCm39) I144T possibly damaging Het
Prkdc A T 16: 15,552,786 (GRCm39) Q2074L probably benign Het
Pthlh G A 6: 147,158,510 (GRCm39) T150I probably benign Het
Ptprq A T 10: 107,541,414 (GRCm39) Y371N probably damaging Het
Rfwd3 A G 8: 112,009,975 (GRCm39) S377P probably damaging Het
Rpl31-ps17 C T 12: 54,748,397 (GRCm39) noncoding transcript Het
Sap130 T C 18: 31,810,532 (GRCm39) probably null Het
Sap25 T G 5: 137,640,891 (GRCm39) M229R possibly damaging Het
Scaper A T 9: 55,766,321 (GRCm39) V479E probably null Het
Scn3a T A 2: 65,337,550 (GRCm39) D649V probably damaging Het
Slco1a7 A T 6: 141,673,319 (GRCm39) Y406* probably null Het
Smc1b A G 15: 85,006,052 (GRCm39) probably benign Het
Sowahb T C 5: 93,192,284 (GRCm39) E145G possibly damaging Het
Stxbp5 T A 10: 9,711,590 (GRCm39) I277F possibly damaging Het
Tanc1 T C 2: 59,674,177 (GRCm39) S1754P possibly damaging Het
Tanc2 A G 11: 105,801,135 (GRCm39) D1117G probably benign Het
Tbc1d31 A G 15: 57,815,137 (GRCm39) M605V possibly damaging Het
Tekt3 A T 11: 62,985,514 (GRCm39) D440V possibly damaging Het
Tmem67 C T 4: 12,063,730 (GRCm39) W477* probably null Het
Tra2a T C 6: 49,227,861 (GRCm39) probably benign Het
Trappc12 A G 12: 28,797,380 (GRCm39) F51L possibly damaging Het
Trrap C A 5: 144,758,665 (GRCm39) P2183Q probably benign Het
Unc5d A T 8: 29,184,568 (GRCm39) V644E probably damaging Het
Xpo4 A G 14: 57,827,547 (GRCm39) L883P probably damaging Het
Zbbx T G 3: 74,959,721 (GRCm39) D616A possibly damaging Het
Zfp943 T A 17: 22,211,804 (GRCm39) C297S probably damaging 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
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
R7727:Ubn2 UTSW 6 38,440,873 (GRCm39) missense probably benign 0.08
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'- GCACACGTAACTGATTTTGAATGTC -3'
(R):5'- ACCTCATGAATGCCAGGCAAG -3'

Sequencing Primer
(F):5'- TACTGGGAATTGAACTCAGGACCTC -3'
(R):5'- CTCATGAATGCCAGGCAAGTATTC -3'
Posted On 2014-10-02