Incidental Mutation 'R9447:Ubqln4'
ID 713979
Institutional Source Beutler Lab
Gene Symbol Ubqln4
Ensembl Gene ENSMUSG00000008604
Gene Name ubiquilin 4
Synonyms UBIN
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.624) question?
Stock # R9447 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 88461065-88477032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 88464124 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 208 (D208E)
Ref Sequence ENSEMBL: ENSMUSP00000008748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008748] [ENSMUST00000029698] [ENSMUST00000119002] [ENSMUST00000192962]
AlphaFold Q99NB8
PDB Structure NMR structure of CIP75 UBA domain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000008748
AA Change: D208E

PolyPhen 2 Score 0.166 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: D208E

DomainStartEndE-ValueType
UBQ 13 83 9.08e-17 SMART
low complexity region 93 119 N/A INTRINSIC
low complexity region 130 149 N/A INTRINSIC
low complexity region 152 170 N/A INTRINSIC
low complexity region 176 185 N/A INTRINSIC
STI1 187 224 2.76e-6 SMART
STI1 225 256 2.39e-1 SMART
low complexity region 302 313 N/A INTRINSIC
low complexity region 323 335 N/A INTRINSIC
low complexity region 339 351 N/A INTRINSIC
STI1 388 435 7.4e-7 SMART
STI1 439 471 3.21e1 SMART
low complexity region 528 539 N/A INTRINSIC
UBA 554 592 8.25e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000029698
SMART Domains Protein: ENSMUSP00000029698
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Robl_LC7 7 95 2.65e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000119002
SMART Domains Protein: ENSMUSP00000112936
Gene: ENSMUSG00000028062

DomainStartEndE-ValueType
Blast:Robl_LC7 1 22 2e-8 BLAST
PDB:3CPT|B 1 52 2e-32 PDB
Predicted Effect probably benign
Transcript: ENSMUST00000192962
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 64 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadacl2fm2 T A 3: 59,651,051 (GRCm39) Y58N probably damaging Het
Ago4 G A 4: 126,402,151 (GRCm39) P572S probably benign Het
Akr1c19 A G 13: 4,296,838 (GRCm39) I295V probably benign Het
Cadps2 A T 6: 23,323,297 (GRCm39) I1007K probably damaging Het
Cd47 C A 16: 49,715,822 (GRCm39) T196K Het
Cdrt4 T G 11: 62,883,418 (GRCm39) L40R probably damaging Het
Cox16 A T 12: 81,406,109 (GRCm39) C72S probably benign Het
Cyp2t4 G A 7: 26,854,717 (GRCm39) V66M possibly damaging Het
Daxx A T 17: 34,132,247 (GRCm39) D497V unknown Het
Ddt A G 10: 75,608,671 (GRCm39) V62A possibly damaging Het
Dhx57 A G 17: 80,549,523 (GRCm39) V1294A probably damaging Het
Dnaaf5 A G 5: 139,163,743 (GRCm39) T667A probably damaging Het
Dnase2a A C 8: 85,635,786 (GRCm39) S90R probably damaging Het
Dytn A G 1: 63,700,302 (GRCm39) V276A Het
Efcab8 G C 2: 153,646,861 (GRCm39) V397L unknown Het
Enpp6 A T 8: 47,483,600 (GRCm39) R131W probably damaging Het
Epm2a C T 10: 11,324,432 (GRCm39) H174Y possibly damaging Het
Fcho1 A G 8: 72,169,913 (GRCm39) L70P probably damaging Het
Fhip1b G T 7: 105,034,155 (GRCm39) T492K probably benign Het
Fstl4 G T 11: 53,077,166 (GRCm39) C641F probably damaging Het
Ganab C T 19: 8,886,894 (GRCm39) H327Y probably damaging Het
Gkn1 A G 6: 87,323,322 (GRCm39) Y164H probably benign Het
Gm57858 A G 3: 36,074,195 (GRCm39) V318A possibly damaging Het
Hpf1 A G 8: 61,348,618 (GRCm39) D111G probably damaging Het
Hs3st2 C T 7: 120,992,289 (GRCm39) R113W probably damaging Het
Ighm A T 12: 113,384,794 (GRCm39) L353Q Het
Krbox5 A G 13: 67,981,953 (GRCm39) E55G probably damaging Het
Ksr1 T C 11: 78,909,159 (GRCm39) D782G unknown Het
Lpin2 A G 17: 71,539,087 (GRCm39) K392E unknown Het
Lrrc4 A G 6: 28,830,650 (GRCm39) S322P probably benign Het
Man2a1 T C 17: 64,966,001 (GRCm39) V313A possibly damaging Het
Mctp1 A G 13: 76,727,904 (GRCm39) S9G probably benign Het
Morn5 A T 2: 35,969,525 (GRCm39) probably null Het
Mroh2b C T 15: 4,960,823 (GRCm39) A795V probably damaging Het
Ncf4 G T 15: 78,146,499 (GRCm39) A310S probably benign Het
Nedd4 T C 9: 72,577,381 (GRCm39) Y69H probably benign Het
Nras T C 3: 102,967,673 (GRCm39) F90L possibly damaging Het
Nrxn3 T C 12: 89,221,678 (GRCm39) F113L probably benign Het
Ntsr1 C T 2: 180,180,540 (GRCm39) T282I probably benign Het
Or1e1d-ps1 G T 11: 73,819,617 (GRCm39) C189F probably benign Het
Osbpl3 T A 6: 50,321,857 (GRCm39) K310* probably null Het
Pcca T C 14: 122,854,290 (GRCm39) V194A probably damaging Het
Plekha5 A G 6: 140,525,192 (GRCm39) Y900C probably damaging Het
Prss22 T C 17: 24,212,837 (GRCm39) D300G probably benign Het
Rad17 A T 13: 100,764,119 (GRCm39) Y451N probably damaging Het
Rnf181 G T 6: 72,337,570 (GRCm39) T97K probably damaging Het
Sec24d T C 3: 123,084,162 (GRCm39) S114P probably benign Het
Siae C A 9: 37,557,743 (GRCm39) Q517K probably benign Het
Smurf2 A T 11: 106,715,548 (GRCm39) V653D probably damaging Het
Sqor C A 2: 122,649,520 (GRCm39) T359K possibly damaging Het
Taf6 A T 5: 138,176,970 (GRCm39) *637R probably null Het
Tas2r109 A C 6: 132,957,270 (GRCm39) M220R probably damaging Het
Tlr2 T A 3: 83,748,445 (GRCm39) probably null Het
Tm7sf3 C T 6: 146,525,179 (GRCm39) D89N possibly damaging Het
Tmem8b T G 4: 43,685,766 (GRCm39) L179R probably damaging Het
Tnfrsf10b T A 14: 70,013,608 (GRCm39) H179Q probably damaging Het
Trip11 T A 12: 101,850,148 (GRCm39) K1305N probably damaging Het
Ttn C A 2: 76,582,862 (GRCm39) W22677L probably damaging Het
Ube2r2 T C 4: 41,190,655 (GRCm39) V183A probably damaging Het
Ugt2a3 T A 5: 87,473,330 (GRCm39) N529I probably benign Het
Vmn1r125 A G 7: 21,006,627 (GRCm39) N175S probably benign Het
Xirp2 T A 2: 67,338,950 (GRCm39) I397K probably damaging Het
Zfp821 G A 8: 110,450,816 (GRCm39) V270I probably damaging Het
Zfp935 A G 13: 62,602,842 (GRCm39) V99A possibly damaging Het
Other mutations in Ubqln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ubqln4 APN 3 88,471,808 (GRCm39) missense probably benign 0.24
IGL01352:Ubqln4 APN 3 88,471,775 (GRCm39) missense probably benign 0.32
IGL02821:Ubqln4 APN 3 88,470,458 (GRCm39) missense probably benign
IGL02852:Ubqln4 APN 3 88,462,778 (GRCm39) missense probably damaging 0.97
R0173:Ubqln4 UTSW 3 88,462,686 (GRCm39) missense probably benign 0.00
R0372:Ubqln4 UTSW 3 88,463,276 (GRCm39) missense probably benign
R1473:Ubqln4 UTSW 3 88,473,152 (GRCm39) missense probably benign
R3688:Ubqln4 UTSW 3 88,470,466 (GRCm39) missense probably damaging 0.97
R5423:Ubqln4 UTSW 3 88,470,506 (GRCm39) missense probably damaging 0.99
R5592:Ubqln4 UTSW 3 88,464,171 (GRCm39) missense probably damaging 0.98
R5688:Ubqln4 UTSW 3 88,472,575 (GRCm39) missense probably damaging 1.00
R6809:Ubqln4 UTSW 3 88,462,679 (GRCm39) missense possibly damaging 0.94
R7326:Ubqln4 UTSW 3 88,463,217 (GRCm39) missense probably benign
R7572:Ubqln4 UTSW 3 88,462,731 (GRCm39) unclassified probably benign
R8134:Ubqln4 UTSW 3 88,462,797 (GRCm39) critical splice donor site probably null
R8754:Ubqln4 UTSW 3 88,473,090 (GRCm39) missense probably benign 0.00
R8939:Ubqln4 UTSW 3 88,473,023 (GRCm39) missense probably benign
R9762:Ubqln4 UTSW 3 88,473,185 (GRCm39) critical splice donor site probably null
Z1177:Ubqln4 UTSW 3 88,473,027 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- AAGTCTGCTGGATCTTGGAAGG -3'
(R):5'- TGTTCAAAGCACACCAGCTC -3'

Sequencing Primer
(F):5'- AGGGAGACTCTGACCCTGCTC -3'
(R):5'- GCTCAACTCAATGAACAAGAAGAAG -3'
Posted On 2022-06-15