Incidental Mutation 'IGL02821:Ubqln4'
ID 360995
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln4
Ensembl Gene ENSMUSG00000008604
Gene Name ubiquilin 4
Synonyms UBIN
Accession Numbers
Essential gene? Possibly essential (E-score: 0.679) question?
Stock # IGL02821
Quality Score
Status
Chromosome 3
Chromosomal Location 88461065-88477032 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 88470458 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 310 (N310S)
Ref Sequence ENSEMBL: ENSMUSP00000008748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008748]
AlphaFold Q99NB8
PDB Structure NMR structure of CIP75 UBA domain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000008748
AA Change: N310S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: N310S

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 noncoding transcript
Transcript: ENSMUST00000192687
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194303
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195498
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930474N05Rik T C 14: 35,818,473 (GRCm39) L157S probably benign Het
Adam15 A G 3: 89,252,663 (GRCm39) S309P probably damaging Het
Agtpbp1 A T 13: 59,630,415 (GRCm39) M772K possibly damaging Het
Ankfn1 T C 11: 89,282,442 (GRCm39) M402V probably benign Het
Anln G A 9: 22,269,418 (GRCm39) T822I possibly damaging Het
Atp13a4 A G 16: 29,260,125 (GRCm39) V589A probably benign Het
Ccm2l C T 2: 152,909,779 (GRCm39) L44F probably damaging Het
Cd177 A T 7: 24,443,818 (GRCm39) L760Q probably damaging Het
Cd177 G T 7: 24,443,819 (GRCm39) L760M probably damaging Het
Cfap69 T C 5: 5,714,017 (GRCm39) E5G probably benign Het
Col4a1 G A 8: 11,271,375 (GRCm39) T753I probably benign Het
Col6a3 T A 1: 90,731,600 (GRCm39) D1551V probably damaging Het
Ddx20 A G 3: 105,586,593 (GRCm39) V584A probably benign Het
Dop1a C A 9: 86,402,209 (GRCm39) H1136Q probably benign Het
Egf T C 3: 129,496,128 (GRCm39) E329G probably damaging Het
Eif3c A G 7: 126,157,831 (GRCm39) V337A probably benign Het
Eif3f G T 7: 108,533,881 (GRCm39) probably benign Het
Eif3f C T 7: 108,533,882 (GRCm39) probably benign Het
Evc T A 5: 37,483,740 (GRCm39) I187F probably benign Het
Fam117a T G 11: 95,254,815 (GRCm39) probably benign Het
H2-M10.4 A T 17: 36,771,323 (GRCm39) V285E probably damaging Het
Hps4 G T 5: 112,523,307 (GRCm39) M608I probably benign Het
Idh3b T A 2: 130,126,321 (GRCm39) N6I probably benign Het
Itgam A T 7: 127,675,281 (GRCm39) M169L probably damaging Het
Kcnn3 G A 3: 89,570,029 (GRCm39) G614D possibly damaging Het
Kcnn3 A G 3: 89,428,281 (GRCm39) N169S possibly damaging Het
Mn1 A T 5: 111,569,717 (GRCm39) K1229M probably damaging Het
Ms4a19 A G 19: 11,118,897 (GRCm39) *71Q probably null Het
Nckap5 A G 1: 125,955,553 (GRCm39) M401T probably damaging Het
Or1af1 T C 2: 37,110,112 (GRCm39) S204P probably damaging Het
Or8c13 T C 9: 38,091,964 (GRCm39) N52D possibly damaging Het
Or8d4 T G 9: 40,038,561 (GRCm39) E232A probably benign Het
Pttg1ip2 G A 5: 5,502,039 (GRCm39) Q138* probably null Het
Sim2 G A 16: 93,898,047 (GRCm39) V94M probably damaging Het
Slc46a3 G A 5: 147,822,822 (GRCm39) T340M probably benign Het
Ssc4d A G 5: 135,994,923 (GRCm39) probably benign Het
Trav12-1 A G 14: 53,775,916 (GRCm39) D22G probably damaging Het
Trgv4 T A 13: 19,369,422 (GRCm39) D55E possibly damaging Het
Trps1 G A 15: 50,524,273 (GRCm39) T969M probably damaging Het
Ttn T A 2: 76,719,894 (GRCm39) probably benign Het
Vapa T C 17: 65,889,756 (GRCm39) probably benign Het
Vmn1r65 T C 7: 6,011,893 (GRCm39) T114A possibly damaging Het
Vps13d T C 4: 144,875,332 (GRCm39) E1725G probably damaging Het
Vps53 A G 11: 76,027,143 (GRCm39) probably benign Het
Xkr9 T C 1: 13,742,799 (GRCm39) L28P probably 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
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
R9447:Ubqln4 UTSW 3 88,464,124 (GRCm39) missense probably benign 0.17
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
Posted On 2015-12-18