Incidental Mutation 'IGL03150:Ubn2'
ID 411064
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubn2
Ensembl Gene ENSMUSG00000038538
Gene Name ubinuclein 2
Synonyms 2900060J04Rik, D130059P03Rik, 6030408G03Rik
Accession Numbers
Essential gene? Probably essential (E-score: 0.915) question?
Stock # IGL03150
Quality Score
Status
Chromosome 6
Chromosomal Location 38410860-38489698 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 38440649 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Proline to Serine at position 174 (P174S)
Ref Sequence ENSEMBL: ENSMUSP00000124352 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039127] [ENSMUST00000160583] [ENSMUST00000162593]
AlphaFold Q80WC1
Predicted Effect probably benign
Transcript: ENSMUST00000039127
AA Change: P342S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000036188
Gene: ENSMUSG00000038538
AA Change: P342S

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: P342S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124043
Gene: ENSMUSG00000038538
AA Change: P342S

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 noncoding transcript
Transcript: ENSMUST00000162026
Predicted Effect probably benign
Transcript: ENSMUST00000162593
AA Change: P174S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000124352
Gene: ENSMUSG00000038538
AA Change: P174S

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
Validation Efficiency
Allele List at MGI

All alleles(14) : Gene trapped(14)

Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadat C T 8: 60,996,596 (GRCm39) S399L probably damaging Het
Bltp1 T C 3: 37,002,215 (GRCm39) S1387P probably damaging Het
Corin T C 5: 72,460,201 (GRCm39) D886G probably damaging Het
Cracd G A 5: 77,015,097 (GRCm39) E57K probably damaging Het
Eif2ak3 A T 6: 70,869,420 (GRCm39) K702N possibly damaging Het
Ercc6 G T 14: 32,280,531 (GRCm39) M709I probably damaging Het
Foxa1 T A 12: 57,589,082 (GRCm39) E379D probably benign Het
Fscb C T 12: 64,519,204 (GRCm39) G754D unknown Het
Gzmb C T 14: 56,497,839 (GRCm39) V134I probably benign Het
Iho1 G T 9: 108,282,155 (GRCm39) T511K probably damaging Het
Muc5b A G 7: 141,419,246 (GRCm39) T4010A possibly damaging Het
Necab3 A G 2: 154,396,662 (GRCm39) Y55H probably damaging Het
Nova1 T C 12: 46,747,455 (GRCm39) N274S possibly damaging Het
Nup54 C A 5: 92,576,023 (GRCm39) G156V probably damaging Het
Obscn A T 11: 58,942,549 (GRCm39) C4317S probably damaging Het
Papln T A 12: 83,829,758 (GRCm39) W960R probably damaging Het
Pax4 C A 6: 28,444,338 (GRCm39) G239W probably null Het
Pcdhb15 C A 18: 37,608,067 (GRCm39) T433N probably damaging Het
Ptprj A G 2: 90,290,955 (GRCm39) S502P probably damaging Het
Slit3 A G 11: 35,399,084 (GRCm39) R150G possibly damaging Het
Srgap2 A T 1: 131,238,338 (GRCm39) V658E probably damaging Het
Taar7e A T 10: 23,913,528 (GRCm39) D6V probably benign Het
Trim25 T C 11: 88,890,831 (GRCm39) C173R probably damaging Het
Trmt1l T C 1: 151,329,643 (GRCm39) S529P probably benign Het
Ubox5 A G 2: 130,442,060 (GRCm39) V209A probably benign Het
Vmn2r72 A G 7: 85,400,384 (GRCm39) F222L probably damaging Het
Xpot C T 10: 121,445,091 (GRCm39) A374T probably benign Het
Zfp451 A G 1: 33,816,535 (GRCm39) C472R probably damaging Het
Zfp777 A G 6: 48,021,059 (GRCm39) W232R 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
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
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
Posted On 2016-08-02