Incidental Mutation 'R1892:Hnrnpul1'
ID 211593
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 039912-MU
Accession Numbers
Essential gene? Possibly essential (E-score: 0.621) question?
Stock # R1892 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 25420590-25454182 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 25426191 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 553 (D553E)
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: D453E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
SMART Domains Protein: ENSMUSP00000037268
Gene: ENSMUSG00000040725
AA Change: D453E

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: D553E

PolyPhen 2 Score 0.114 (Sensitivity: 0.93; Specificity: 0.86)
Coding Region Coverage
  • 1x: 97.4%
  • 3x: 96.8%
  • 10x: 95.4%
  • 20x: 93.0%
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: 92 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 G A 7: 119,815,561 (GRCm39) A270T probably benign Het
Abcb7 A T X: 103,386,142 (GRCm39) H97Q probably damaging Het
Adat3 T C 10: 80,442,249 (GRCm39) L29P probably damaging Het
AI987944 A T 7: 41,024,020 (GRCm39) C320S probably damaging Het
Asic4 C T 1: 75,446,126 (GRCm39) R285W probably damaging Het
Asic5 A T 3: 81,928,293 (GRCm39) I419L probably damaging Het
Batf A G 12: 85,736,102 (GRCm39) K42E probably damaging Het
Bcar3 A G 3: 122,301,785 (GRCm39) N160S probably benign Het
Bco2 C A 9: 50,461,863 (GRCm39) G47V probably damaging Het
Bicc1 T G 10: 70,794,614 (GRCm39) K181T probably damaging Het
Brinp2 A G 1: 158,082,542 (GRCm39) probably null Het
Cacng8 A G 7: 3,463,568 (GRCm39) D240G possibly damaging Het
Calca A G 7: 114,232,962 (GRCm39) Y96H probably damaging Het
Cdh1 A T 8: 107,390,882 (GRCm39) K666I possibly damaging Het
Cdh16 A T 8: 105,344,631 (GRCm39) I500N possibly damaging Het
Chst14 A G 2: 118,757,830 (GRCm39) Y208C probably damaging Het
Chst9 T C 18: 15,586,017 (GRCm39) H182R probably damaging Het
Clk2 A G 3: 89,082,502 (GRCm39) I367M possibly damaging Het
Cobl G C 11: 12,203,258 (GRCm39) S1066W probably damaging Het
Ctcfl A G 2: 172,960,478 (GRCm39) V35A probably benign Het
Dchs1 G T 7: 105,413,363 (GRCm39) H1151N probably benign Het
Dennd1c T C 17: 57,374,083 (GRCm39) T529A probably benign Het
Dnah11 A T 12: 118,070,209 (GRCm39) V1532D possibly damaging Het
Dync1h1 A G 12: 110,612,738 (GRCm39) Y2871C probably damaging Het
Dytn T C 1: 63,716,420 (GRCm39) E51G probably benign Het
Esd C T 14: 74,987,113 (GRCm39) A266V probably damaging Het
Gli1 T C 10: 127,165,975 (GRCm39) M1093V possibly damaging Het
Gm15446 A G 5: 110,091,253 (GRCm39) K502E probably damaging Het
Gm4076 T A 13: 85,275,447 (GRCm39) noncoding transcript Het
Gm9830 A G 9: 44,375,825 (GRCm39) noncoding transcript Het
Gm9938 G A 19: 23,701,955 (GRCm39) probably benign Het
Grhl1 G A 12: 24,634,909 (GRCm39) R245H probably damaging Het
Hpn G A 7: 30,798,468 (GRCm39) Q415* probably null Het
Hsd11b1 T G 1: 192,906,068 (GRCm39) M175L probably benign Het
Htra1 G A 7: 130,586,799 (GRCm39) V461I possibly damaging Het
Il1rl2 A G 1: 40,366,694 (GRCm39) H76R probably damaging Het
Insrr G A 3: 87,721,184 (GRCm39) V1112M probably damaging Het
Ints9 T C 14: 65,257,872 (GRCm39) S351P probably benign Het
Itgav T A 2: 83,601,680 (GRCm39) N350K probably damaging Het
Kdm4d C A 9: 14,375,613 (GRCm39) V82L probably benign Het
Klc1 T C 12: 111,748,261 (GRCm39) probably null Het
Kmt5c T A 7: 4,745,714 (GRCm39) C69* probably null Het
Lgals3 T G 14: 47,622,164 (GRCm39) N193K possibly damaging Het
Morc2b T A 17: 33,354,748 (GRCm39) D1008V probably damaging Het
Mpg C T 11: 32,181,720 (GRCm39) Q243* probably null Het
Muc15 C T 2: 110,567,697 (GRCm39) R281* probably null Het
Ncstn CAGCTCCACGAAG CAG 1: 171,899,038 (GRCm39) probably null Het
Nek5 A G 8: 22,597,745 (GRCm39) M278T probably benign Het
Npas2 A G 1: 39,384,503 (GRCm39) T599A probably benign Het
Nrf1 A G 6: 30,144,787 (GRCm39) D519G probably null Het
Nup43 A G 10: 7,549,373 (GRCm39) H176R probably damaging Het
Nxpe2 T C 9: 48,237,914 (GRCm39) T114A probably damaging Het
Or10j3 T C 1: 173,031,795 (GRCm39) Y291H probably damaging Het
Or5p72 A T 7: 108,022,147 (GRCm39) Y123F possibly damaging Het
Or6c75 A C 10: 129,336,902 (GRCm39) I50L probably benign Het
Perm1 C T 4: 156,302,340 (GRCm39) R295C probably benign Het
Pik3ip1 G T 11: 3,283,304 (GRCm39) A135S probably damaging Het
Pira13 A C 7: 3,827,573 (GRCm39) C195G probably benign Het
Ppp4c A G 7: 126,385,452 (GRCm39) V119A probably damaging Het
Prepl A G 17: 85,395,878 (GRCm39) Y35H possibly damaging Het
Ptpn13 A G 5: 103,649,545 (GRCm39) Y316C possibly damaging Het
Pxk C T 14: 8,151,507 (GRCm38) R441* probably null Het
Ranbp2 T C 10: 58,299,921 (GRCm39) V491A probably benign Het
Ranbp9 C A 13: 43,569,933 (GRCm39) C495F possibly damaging Het
Rfx8 A T 1: 39,709,746 (GRCm39) probably null Het
Rnf111 T A 9: 70,383,656 (GRCm39) K92N probably damaging Het
Rtn1 A G 12: 72,259,337 (GRCm39) I772T probably damaging Het
Ryr2 T A 13: 11,673,844 (GRCm39) K72* probably null Het
Sergef A T 7: 46,264,040 (GRCm39) probably null Het
Sez6l T C 5: 112,620,665 (GRCm39) N305S probably damaging Het
Slc40a1 A T 1: 45,950,302 (GRCm39) C383* probably null Het
Stab2 C T 10: 86,773,913 (GRCm39) C806Y probably damaging Het
Stard9 A G 2: 120,524,189 (GRCm39) T795A probably benign Het
Stk31 T C 6: 49,415,408 (GRCm39) I536T probably damaging Het
Stox1 T A 10: 62,501,178 (GRCm39) T461S possibly damaging Het
Suv39h2 T C 2: 3,460,805 (GRCm39) Y219C probably damaging Het
Tap1 T G 17: 34,413,915 (GRCm39) D643E probably damaging Het
Tbc1d2b T A 9: 90,100,996 (GRCm39) I665F probably damaging Het
Tdrd6 T C 17: 43,935,696 (GRCm39) N1784S probably benign Het
Tmem14c T C 13: 41,174,633 (GRCm39) F81L possibly damaging Het
Tnrc6c A G 11: 117,605,188 (GRCm39) N108D probably benign Het
Tox3 A T 8: 90,996,869 (GRCm39) N131K probably benign Het
Tspear T A 10: 77,706,308 (GRCm39) D359E probably benign Het
Ttc9 A G 12: 81,678,551 (GRCm39) I125V probably benign Het
Ttn A T 2: 76,728,531 (GRCm39) probably benign Het
Ubn2 C T 6: 38,468,226 (GRCm39) S980F probably damaging Het
Vcf1 G T 11: 113,554,212 (GRCm39) P161H probably damaging Het
Zfp362 T A 4: 128,684,057 (GRCm39) T30S probably benign Het
Zfp385c A C 11: 100,528,630 (GRCm39) H32Q probably damaging Het
Zfp870 A T 17: 33,102,863 (GRCm39) H156Q possibly damaging Het
Zfp873 T C 10: 81,897,080 (GRCm39) C641R probably damaging Het
Zfp950 A T 19: 61,107,549 (GRCm39) H511Q 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
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
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
Predicted Primers PCR Primer
(F):5'- TGAAAGTCCTTCCCCAGCTG -3'
(R):5'- ATGGTTTCCCTGCACAATGC -3'

Sequencing Primer
(F):5'- TGGAAGCCAGATCCCTCACATG -3'
(R):5'- GAGATGGCTCTGAGTATCCAATCTC -3'
Posted On 2014-06-30