Incidental Mutation 'R5599:Hnrnpul1'
ID 438941
Institutional Source Beutler Lab
Gene Symbol Hnrnpul1
Ensembl Gene ENSMUSG00000040725
Gene Name heterogeneous nuclear ribonucleoprotein U-like 1
Synonyms E130317O14Rik, Hnrpul1, Hnrnpul, E1B-AP5, E1BAP5
MMRRC Submission 043151-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.621) question?
Stock # R5599 (G1)
Quality Score 117
Status Not validated
Chromosome 7
Chromosomal Location 25420590-25454182 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) G to A at 25454097 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000146263 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000002677] [ENSMUST00000043765] [ENSMUST00000085948] [ENSMUST00000108401] [ENSMUST00000206832]
AlphaFold Q8VDM6
Predicted Effect probably benign
Transcript: ENSMUST00000002677
SMART Domains Protein: ENSMUSP00000002677
Gene: ENSMUSG00000002602

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 35 124 5.53e-6 SMART
IG 139 218 9.06e-2 SMART
FN3 219 312 9.25e-6 SMART
FN3 328 409 2.18e-2 SMART
transmembrane domain 444 466 N/A INTRINSIC
low complexity region 489 501 N/A INTRINSIC
TyrKc 530 797 1.91e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000043765
SMART Domains Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725

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: ENSMUST00000085948
SMART Domains Protein: ENSMUSP00000083110
Gene: ENSMUSG00000002602

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
IG 35 124 5.53e-6 SMART
IG 139 218 9.06e-2 SMART
FN3 219 312 9.25e-6 SMART
FN3 328 409 2.18e-2 SMART
transmembrane domain 435 457 N/A INTRINSIC
low complexity region 480 492 N/A INTRINSIC
TyrKc 521 788 1.91e-134 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000108401
SMART Domains Protein: ENSMUSP00000104038
Gene: ENSMUSG00000040725

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
Pfam:SPRY 255 338 2e-13 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000206832
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.6%
  • 20x: 96.1%
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd2 T A 7: 78,946,746 (GRCm39) probably null Het
Agpat3 T C 10: 78,110,103 (GRCm39) D282G probably benign Het
Ankhd1 G A 18: 36,693,860 (GRCm39) A24T probably damaging Het
Cracdl T C 1: 37,652,424 (GRCm39) N1128D possibly damaging Het
Cry1 A T 10: 84,980,114 (GRCm39) M398K probably benign Het
Dpp10 A G 1: 123,832,803 (GRCm39) I47T probably damaging Het
Fpr-rs6 C T 17: 20,402,375 (GRCm39) D329N probably benign Het
Gfm2 G A 13: 97,299,659 (GRCm39) A406T probably damaging Het
Gprc5c G T 11: 114,755,093 (GRCm39) V257L possibly damaging Het
Gxylt1 CTCATCCGGGTCAT CTCAT 15: 93,152,198 (GRCm39) probably benign Het
Lbx1 T A 19: 45,223,519 (GRCm39) S50C probably damaging Het
Lims2 A G 18: 32,090,324 (GRCm39) N183S probably benign Het
Lrp1 T C 10: 127,429,738 (GRCm39) N444S probably damaging Het
Mast4 A T 13: 102,873,987 (GRCm39) C1626S probably damaging Het
Mgat5 A G 1: 127,325,303 (GRCm39) Y390C probably damaging Het
Nf2 T C 11: 4,732,269 (GRCm39) E553G probably damaging Het
Nfatc4 A T 14: 56,069,733 (GRCm39) T704S probably benign Het
Or4c3d A G 2: 89,882,563 (GRCm39) V35A probably benign Het
Or56a3 T C 7: 104,735,757 (GRCm39) probably null Het
Or7g29 T G 9: 19,286,925 (GRCm39) N84T possibly damaging Het
Or9m1b T G 2: 87,836,349 (GRCm39) I258L probably benign Het
Plekha7 T A 7: 115,776,117 (GRCm39) probably null Het
Polr1a T C 6: 71,944,346 (GRCm39) M1271T possibly damaging Het
Ppip5k2 A G 1: 97,668,323 (GRCm39) M595T probably damaging Het
Ppox A T 1: 171,105,033 (GRCm39) V412D probably damaging Het
Ppp1r12b A G 1: 134,793,645 (GRCm39) V573A probably benign Het
Prkcb T C 7: 122,181,701 (GRCm39) Y430H probably benign Het
Psmd6 A C 14: 14,120,144 (GRCm38) M65R probably benign Het
Rbm12 G A 2: 155,938,713 (GRCm39) R520* probably null Het
Rin3 T C 12: 102,356,188 (GRCm39) F830L probably damaging Het
Sema4b A G 7: 79,863,039 (GRCm39) K104R probably benign Het
Slitrk1 T C 14: 109,149,244 (GRCm39) D489G probably benign Het
Spef2 T C 15: 9,729,789 (GRCm39) T110A possibly damaging Het
Sult2a6 T A 7: 13,988,629 (GRCm39) K44* probably null Het
Tasor A G 14: 27,201,886 (GRCm39) N1427D probably benign Het
Tbc1d2 C T 4: 46,629,912 (GRCm39) G252R probably benign Het
Tcstv2c A C 13: 120,616,458 (GRCm39) Q99P probably damaging Het
Tnxb G T 17: 34,909,176 (GRCm39) G1445V probably damaging Het
Tnxb T C 17: 34,909,179 (GRCm39) V1569A probably benign Het
Zcchc2 A G 1: 105,959,880 (GRCm39) D1163G probably damaging Het
Zfp365 C T 10: 67,745,197 (GRCm39) E194K probably damaging 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
IGL02474:Hnrnpul1 APN 7 25,426,182 (GRCm39) missense probably benign 0.02
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
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
Predicted Primers
Posted On 2016-10-26