Incidental Mutation 'IGL02474:Hnrnpul1'
ID 294853
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpul1
Ensembl Gene ENSMUSG00000040725
Gene Name heterogeneous nuclear ribonucleoprotein U-like 1
Synonyms E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5
Accession Numbers
Essential gene? Possibly essential (E-score: 0.621) question?
Stock # IGL02474
Quality Score
Status
Chromosome 7
Chromosomal Location 25420590-25454182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25426182 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 556 (D556E)
Ref Sequence ENSEMBL: ENSMUSP00000146263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043765] [ENSMUST00000206832]
AlphaFold Q8VDM6
Predicted Effect probably benign
Transcript: ENSMUST00000043765
AA Change: D456E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: D456E

DomainStartEndE-ValueType
SAP 3 37 2.86e-10 SMART
low complexity region 62 74 N/A INTRINSIC
low complexity region 78 91 N/A INTRINSIC
low complexity region 201 209 N/A INTRINSIC
SPRY 255 388 8.49e-41 SMART
Pfam:AAA_33 424 569 1.4e-29 PFAM
low complexity region 613 626 N/A INTRINSIC
low complexity region 631 693 N/A INTRINSIC
low complexity region 695 718 N/A INTRINSIC
low complexity region 745 765 N/A INTRINSIC
low complexity region 768 859 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000206832
AA Change: D556E

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a nuclear RNA-binding protein of the heterogeneous nuclear ribonucleoprotein (hnRNP) family. This protein binds specifically to adenovirus early-1B-55kDa oncoprotein. It may play an important role in nucleocytoplasmic RNA transport, and its function is modulated by early-1B-55kDa in adenovirus-infected cells. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Afdn A G 17: 14,038,491 (GRCm39) E283G probably damaging Het
Ahnak A G 19: 8,982,297 (GRCm39) I1194V probably benign Het
Aqr T A 2: 113,943,127 (GRCm39) N1149Y probably damaging Het
Bms1 T C 6: 118,393,480 (GRCm39) I131V probably benign Het
Cacna1s A C 1: 136,046,118 (GRCm39) T1461P probably benign Het
Chrnb3 T C 8: 27,883,397 (GRCm39) S113P probably damaging Het
Col1a2 C T 6: 4,516,398 (GRCm39) R171C unknown Het
Cramp1 A G 17: 25,204,024 (GRCm39) V318A probably damaging Het
Csf2ra A G 19: 61,214,975 (GRCm39) V163A possibly damaging Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Ctnnd2 A G 15: 30,669,708 (GRCm39) D439G possibly damaging Het
Dnah11 T A 12: 117,991,180 (GRCm39) probably null Het
Dyrk4 C A 6: 126,857,194 (GRCm39) C495F probably damaging Het
Gabra6 A G 11: 42,198,244 (GRCm39) V402A probably benign Het
Gba2 T C 4: 43,568,538 (GRCm39) M643V possibly damaging Het
Gbp9 A T 5: 105,242,433 (GRCm39) probably benign Het
Ginm1 A G 10: 7,653,532 (GRCm39) probably benign Het
Git1 T A 11: 77,394,217 (GRCm39) D282E probably damaging Het
Gm5799 T C 14: 43,782,086 (GRCm39) I86T probably damaging Het
Gm9894 T C 13: 67,913,213 (GRCm39) noncoding transcript Het
Gng12 A G 6: 66,992,745 (GRCm39) K4R probably benign Het
Kat6b T A 14: 21,719,107 (GRCm39) L1153Q possibly damaging Het
Ly75 A T 2: 60,213,526 (GRCm39) L17Q probably null Het
Mc5r T C 18: 68,471,910 (GRCm39) F90L probably damaging Het
Or1x2 C A 11: 50,918,192 (GRCm39) A121D probably damaging Het
Or5k8 A T 16: 58,645,019 (GRCm39) S18T probably benign Het
Or6b13 T C 7: 139,782,500 (GRCm39) Y61C probably damaging Het
Or7c70 A T 10: 78,682,897 (GRCm39) M284K probably damaging Het
Or8b9 A T 9: 37,766,656 (GRCm39) I181L probably benign Het
Pi4ka A T 16: 17,143,293 (GRCm39) Y6N probably damaging Het
Polr2g C A 19: 8,775,820 (GRCm39) probably null Het
Psme3 A G 11: 101,208,480 (GRCm39) Q82R probably benign Het
Rab11a G T 9: 64,633,929 (GRCm39) T17K possibly damaging Het
Rbm12 A T 2: 155,940,017 (GRCm39) L85Q probably damaging Het
Skap1 A T 11: 96,599,512 (GRCm39) Y188F probably damaging Het
Tmprss6 A T 15: 78,326,536 (GRCm39) F34I probably damaging Het
Trip12 A C 1: 84,771,854 (GRCm39) I98S probably benign Het
Ttn T C 2: 76,708,532 (GRCm39) probably benign Het
Ube2t A T 1: 134,899,079 (GRCm39) K21* probably null Het
Vmn1r216 T C 13: 23,283,647 (GRCm39) V110A possibly damaging Het
Vmn2r109 A T 17: 20,761,150 (GRCm39) F736I probably benign Het
Vps13c A G 9: 67,845,158 (GRCm39) T2081A probably benign Het
Zfp13 C T 17: 23,795,072 (GRCm39) A493T probably benign Het
Other mutations in Hnrnpul1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00095:Hnrnpul1 APN 7 25,425,579 (GRCm39) missense possibly damaging 0.74
IGL01287:Hnrnpul1 APN 7 25,426,323 (GRCm39) missense probably damaging 1.00
IGL01409:Hnrnpul1 APN 7 25,424,077 (GRCm39) missense unknown
IGL02026:Hnrnpul1 APN 7 25,444,587 (GRCm39) missense probably damaging 0.99
IGL02073:Hnrnpul1 APN 7 25,421,766 (GRCm39) unclassified probably benign
IGL02839:Hnrnpul1 APN 7 25,432,667 (GRCm39) critical splice donor site probably null
IGL02894:Hnrnpul1 APN 7 25,450,329 (GRCm39) missense possibly damaging 0.70
IGL03382:Hnrnpul1 APN 7 25,450,409 (GRCm39) start codon destroyed probably null 0.53
R0011:Hnrnpul1 UTSW 7 25,442,340 (GRCm39) splice site probably benign
R0525:Hnrnpul1 UTSW 7 25,440,308 (GRCm39) missense possibly damaging 0.72
R0587:Hnrnpul1 UTSW 7 25,444,657 (GRCm39) missense possibly damaging 0.70
R1121:Hnrnpul1 UTSW 7 25,440,332 (GRCm39) missense possibly damaging 0.68
R1313:Hnrnpul1 UTSW 7 25,422,341 (GRCm39) unclassified probably benign
R1313:Hnrnpul1 UTSW 7 25,422,341 (GRCm39) unclassified probably benign
R1880:Hnrnpul1 UTSW 7 25,432,523 (GRCm39) missense possibly damaging 0.95
R1892:Hnrnpul1 UTSW 7 25,426,191 (GRCm39) missense probably benign 0.11
R2113:Hnrnpul1 UTSW 7 25,432,694 (GRCm39) missense possibly damaging 0.47
R2194:Hnrnpul1 UTSW 7 25,425,347 (GRCm39) critical splice donor site probably null
R2269:Hnrnpul1 UTSW 7 25,450,299 (GRCm39) missense probably damaging 0.98
R2679:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R3079:Hnrnpul1 UTSW 7 25,432,540 (GRCm39) nonsense probably null
R3917:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4077:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4079:Hnrnpul1 UTSW 7 25,426,300 (GRCm39) missense probably damaging 1.00
R4181:Hnrnpul1 UTSW 7 25,426,237 (GRCm39) missense probably damaging 0.98
R4449:Hnrnpul1 UTSW 7 25,421,709 (GRCm39) unclassified probably benign
R4707:Hnrnpul1 UTSW 7 25,426,258 (GRCm39) missense probably damaging 1.00
R4764:Hnrnpul1 UTSW 7 25,442,436 (GRCm39) missense probably benign 0.00
R5040:Hnrnpul1 UTSW 7 25,442,414 (GRCm39) missense possibly damaging 0.86
R5131:Hnrnpul1 UTSW 7 25,426,219 (GRCm39) missense probably benign 0.08
R5224:Hnrnpul1 UTSW 7 25,444,600 (GRCm39) missense probably damaging 0.98
R5599:Hnrnpul1 UTSW 7 25,454,097 (GRCm39) start gained probably benign
R5975:Hnrnpul1 UTSW 7 25,453,784 (GRCm39) missense possibly damaging 0.93
R7032:Hnrnpul1 UTSW 7 25,450,319 (GRCm39) missense probably benign 0.11
R7195:Hnrnpul1 UTSW 7 25,424,203 (GRCm39) missense unknown
R7231:Hnrnpul1 UTSW 7 25,447,842 (GRCm39) nonsense probably null
R7667:Hnrnpul1 UTSW 7 25,453,846 (GRCm39) missense probably damaging 0.99
R8017:Hnrnpul1 UTSW 7 25,447,889 (GRCm39) missense probably benign 0.03
R8060:Hnrnpul1 UTSW 7 25,447,768 (GRCm39) missense possibly damaging 0.54
R8319:Hnrnpul1 UTSW 7 25,453,902 (GRCm39) missense probably benign
R8356:Hnrnpul1 UTSW 7 25,422,247 (GRCm39) unclassified probably benign
Z1176:Hnrnpul1 UTSW 7 25,424,123 (GRCm39) missense unknown
Z1176:Hnrnpul1 UTSW 7 25,424,089 (GRCm39) missense probably benign 0.23
Posted On 2015-04-16