Incidental Mutation 'IGL02821:Ubqln4'
ID360995
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 non essential (E-score: 0.201) question?
Stock #IGL02821
Quality Score
Status
Chromosome3
Chromosomal Location88553758-88569725 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 88563151 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 310 (N310S)
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: 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
1700015F17Rik G A 5: 5,452,039 Q138* probably null Het
1700025F22Rik A G 19: 11,141,533 *71Q probably null Het
4930474N05Rik T C 14: 36,096,516 L157S probably benign Het
Adam15 A G 3: 89,345,356 S309P probably damaging Het
Agtpbp1 A T 13: 59,482,601 M772K possibly damaging Het
Ankfn1 T C 11: 89,391,616 M402V probably benign Het
Anln G A 9: 22,358,122 T822I possibly damaging Het
Atp13a4 A G 16: 29,441,307 V589A probably benign Het
Ccm2l C T 2: 153,067,859 L44F probably damaging Het
Cd177 A T 7: 24,744,393 L760Q probably damaging Het
Cd177 G T 7: 24,744,394 L760M probably damaging Het
Cfap69 T C 5: 5,664,017 E5G probably benign Het
Col4a1 G A 8: 11,221,375 T753I probably benign Het
Col6a3 T A 1: 90,803,878 D1551V probably damaging Het
Ddx20 A G 3: 105,679,277 V584A probably benign Het
Dopey1 C A 9: 86,520,156 H1136Q probably benign Het
Egf T C 3: 129,702,479 E329G probably damaging Het
Eif3c A G 7: 126,558,659 V337A probably benign Het
Eif3f G T 7: 108,934,674 probably benign Het
Eif3f C T 7: 108,934,675 probably benign Het
Evc T A 5: 37,326,396 I187F probably benign Het
Fam117a T G 11: 95,363,989 probably benign Het
H2-M10.4 A T 17: 36,460,431 V285E probably damaging Het
Hps4 G T 5: 112,375,441 M608I probably benign Het
Idh3b T A 2: 130,284,401 N6I probably benign Het
Itgam A T 7: 128,076,109 M169L probably damaging Het
Kcnn3 G A 3: 89,662,722 G614D possibly damaging Het
Kcnn3 A G 3: 89,520,974 N169S possibly damaging Het
Mn1 A T 5: 111,421,851 K1229M probably damaging Het
Nckap5 A G 1: 126,027,816 M401T probably damaging Het
Olfr366 T C 2: 37,220,100 S204P probably damaging Het
Olfr891 T C 9: 38,180,668 N52D possibly damaging Het
Olfr985 T G 9: 40,127,265 E232A probably benign Het
Sim2 G A 16: 94,097,188 V94M probably damaging Het
Slc46a3 G A 5: 147,886,012 T340M probably benign Het
Ssc4d A G 5: 135,966,069 probably benign Het
Tcrg-V4 T A 13: 19,185,252 D55E possibly damaging Het
Trav12-1 A G 14: 53,538,459 D22G probably damaging Het
Trps1 G A 15: 50,660,877 T969M probably damaging Het
Ttn T A 2: 76,889,550 probably benign Het
Vapa T C 17: 65,582,761 probably benign Het
Vmn1r65 T C 7: 6,008,894 T114A possibly damaging Het
Vps13d T C 4: 145,148,762 E1725G probably damaging Het
Vps53 A G 11: 76,136,317 probably benign Het
Xkr9 T C 1: 13,672,575 L28P probably damaging Het
Other mutations in Ubqln4
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ubqln4 APN 3 88564501 missense probably benign 0.24
IGL01352:Ubqln4 APN 3 88564468 missense probably benign 0.32
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
Posted On2015-12-18