Incidental Mutation 'IGL00941:Ubqln4'
ID27112
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ubqln4
Ensembl Gene ENSMUSG00000008604
Gene Nameubiquilin 4
SynonymsUBIN
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.751) question?
Stock #IGL00941
Quality Score
Status
Chromosome3
Chromosomal Location88553758-88569725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 88564501 bp
ZygosityHeterozygous
Amino Acid Change Alanine to Threonine at position 415 (A415T)
Ref Sequence ENSEMBL: ENSMUSP00000008748 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000008748]
PDB Structure
NMR structure of CIP75 UBA domain [SOLUTION NMR]
Predicted Effect probably benign
Transcript: ENSMUST00000008748
AA Change: A415T

PolyPhen 2 Score 0.236 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000008748
Gene: ENSMUSG00000008604
AA Change: A415T

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,317,130 I521S probably damaging Het
Ace A T 11: 105,979,550 K265I probably benign Het
Acss3 A G 10: 107,053,326 probably null Het
Aldh3a2 A G 11: 61,262,256 Y215H probably damaging Het
Clk2 A G 3: 89,175,422 M393V probably damaging Het
Cyc1 A G 15: 76,345,165 I242V probably benign Het
Evpl G A 11: 116,227,901 L657F probably benign Het
Fbxw10 G A 11: 62,873,501 V675M probably damaging Het
Fgf21 A G 7: 45,615,173 V45A probably damaging Het
Gm5134 T C 10: 76,000,421 I412T possibly damaging Het
Gnat3 T C 5: 18,003,751 probably benign Het
Hk3 C T 13: 55,014,426 probably null Het
Ifna12 A T 4: 88,603,314 probably benign Het
Ipp A G 4: 116,532,659 M471V possibly damaging Het
Kcnj1 G A 9: 32,396,498 V73I probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Mical2 T C 7: 112,321,445 probably benign Het
Mllt1 A T 17: 56,895,086 S428R probably damaging Het
Ppm1k T A 6: 57,524,755 H141L probably benign Het
Sept4 G T 11: 87,589,773 C392F probably damaging Het
Slc26a11 T C 11: 119,379,901 F550L probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Stk36 T A 1: 74,623,934 M588K possibly damaging Het
Zfp839 C A 12: 110,860,948 S424R probably damaging Het
Zkscan6 G T 11: 65,814,747 G95W probably damaging Het
Other mutations in Ubqln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01352:Ubqln4 APN 3 88564468 missense probably benign 0.32
IGL02821:Ubqln4 APN 3 88563151 missense probably benign
IGL02852:Ubqln4 APN 3 88555471 missense probably damaging 0.97
R0173:Ubqln4 UTSW 3 88555379 missense probably benign 0.00
R0372:Ubqln4 UTSW 3 88555969 missense probably benign
R1473:Ubqln4 UTSW 3 88565845 missense probably benign
R3688:Ubqln4 UTSW 3 88563159 missense probably damaging 0.97
R5423:Ubqln4 UTSW 3 88563199 missense probably damaging 0.99
R5592:Ubqln4 UTSW 3 88556864 missense probably damaging 0.98
R5688:Ubqln4 UTSW 3 88565268 missense probably damaging 1.00
R6809:Ubqln4 UTSW 3 88555372 missense possibly damaging 0.94
R7326:Ubqln4 UTSW 3 88555910 missense probably benign
R7572:Ubqln4 UTSW 3 88555424 unclassified probably benign
R8134:Ubqln4 UTSW 3 88555490 critical splice donor site probably null
Z1177:Ubqln4 UTSW 3 88565720 missense probably benign
Posted On2013-04-17