Incidental Mutation 'IGL03117:Hnrnpu'
ID 419463
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpu
Ensembl Gene ENSMUSG00000039630
Gene Name heterogeneous nuclear ribonucleoprotein U
Synonyms Sp120, scaffold attachment factor A, Hnrpu
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03117
Quality Score
Status
Chromosome 1
Chromosomal Location 178148673-178165362 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) G to A at 178158339 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000037748] [ENSMUST00000161769]
AlphaFold Q8VEK3
Predicted Effect unknown
Transcript: ENSMUST00000037748
AA Change: A638V
SMART Domains Protein: ENSMUSP00000047571
Gene: ENSMUSG00000039630
AA Change: A638V

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 2e-30 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 791 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134291
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146362
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150825
Predicted Effect unknown
Transcript: ENSMUST00000161769
AA Change: A638V
SMART Domains Protein: ENSMUSP00000124147
Gene: ENSMUSG00000039630
AA Change: A638V

DomainStartEndE-ValueType
SAP 8 42 3.57e-11 SMART
low complexity region 70 96 N/A INTRINSIC
low complexity region 101 154 N/A INTRINSIC
low complexity region 155 171 N/A INTRINSIC
low complexity region 173 184 N/A INTRINSIC
low complexity region 194 207 N/A INTRINSIC
SPRY 307 439 2.35e-34 SMART
Pfam:AAA_33 475 619 6.7e-31 PFAM
coiled coil region 626 653 N/A INTRINSIC
low complexity region 657 675 N/A INTRINSIC
low complexity region 676 732 N/A INTRINSIC
low complexity region 736 750 N/A INTRINSIC
low complexity region 753 773 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162916
Predicted Effect probably benign
Transcript: ENSMUST00000188044
Predicted Effect probably benign
Transcript: ENSMUST00000189450
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 belongs to the subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins and they form complexes with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and appear to influence pre-mRNA processing and other aspects of mRNA metabolism and transport. While all of the hnRNPs are present in the nucleus, some seem to shuttle between the nucleus and the cytoplasm. The hnRNP proteins have distinct nucleic acid binding properties. The protein encoded by this gene contains a RNA binding domain and scaffold-associated region (SAR)-specific bipartite DNA-binding domain. This protein is also thought to be involved in the packaging of hnRNA into large ribonucleoprotein complexes. During apoptosis, this protein is cleaved in a caspase-dependent way. Cleavage occurs at the SALD site, resulting in a loss of DNA-binding activity and a concomitant detachment of this protein from nuclear structural sites. But this cleavage does not affect the function of the encoded protein in RNA metabolism. At least two alternatively spliced transcript variants have been identified for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trap allele display embryonic lethality, delayed embryonic development, and failure of chorioallantoic fusion. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 54 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Cacna2d3 A G 14: 29,189,909 (GRCm39) L109P probably damaging Het
Caprin2 A T 6: 148,763,964 (GRCm39) S568T possibly damaging Het
Catip A G 1: 74,403,744 (GRCm39) T154A probably null Het
Ccdc187 A G 2: 26,177,980 (GRCm39) S270P possibly damaging Het
Ccdc88a A G 11: 29,324,559 (GRCm39) Y39C probably damaging Het
Chrdl2 A T 7: 99,676,787 (GRCm39) H203L possibly damaging Het
Chrnb2 A G 3: 89,670,552 (GRCm39) V62A probably damaging Het
Cklf T A 8: 104,984,055 (GRCm39) S73T possibly damaging Het
Clk1 A G 1: 58,456,166 (GRCm39) probably null Het
Ctdp1 T C 18: 80,492,716 (GRCm39) D593G probably damaging Het
Ctsc A T 7: 87,958,988 (GRCm39) I423F probably damaging Het
D130043K22Rik T A 13: 25,073,825 (GRCm39) V968E probably damaging Het
Dennd4c A G 4: 86,696,140 (GRCm39) S166G possibly damaging Het
Dnah2 G T 11: 69,327,117 (GRCm39) probably benign Het
Dnajb11 G T 16: 22,687,888 (GRCm39) R206L probably benign Het
Dsel A T 1: 111,786,908 (GRCm39) probably benign Het
Ehd2 T C 7: 15,684,396 (GRCm39) S468G possibly damaging Het
Ehmt2 T A 17: 35,125,787 (GRCm39) V640E possibly damaging Het
Elmo2 T A 2: 165,140,573 (GRCm39) E299D probably benign Het
Eps8l1 T C 7: 4,473,886 (GRCm39) L231P probably damaging Het
Esd A G 14: 74,978,686 (GRCm39) T83A probably damaging Het
Flt3 A G 5: 147,293,020 (GRCm39) F529L probably benign Het
Hpx G T 7: 105,249,278 (GRCm39) A7E possibly damaging Het
Ighv6-5 C T 12: 114,380,320 (GRCm39) V85M possibly damaging Het
Itpr3 G A 17: 27,338,240 (GRCm39) V2503I probably damaging Het
Itprid1 A G 6: 55,875,114 (GRCm39) T355A probably benign Het
Matr3 G T 18: 35,705,710 (GRCm39) G212C probably damaging Het
Mrpl35 A T 6: 71,793,263 (GRCm39) Y129* probably null Het
Myh2 T C 11: 67,071,710 (GRCm39) I509T possibly damaging Het
Nat8l G T 5: 34,158,288 (GRCm39) A233S probably damaging Het
Nipbl A C 15: 8,361,936 (GRCm39) L1447W probably damaging Het
Paf1 T A 7: 28,094,481 (GRCm39) C31S possibly damaging Het
Parp4 A C 14: 56,840,313 (GRCm39) T573P probably benign Het
Phf12 A T 11: 77,913,846 (GRCm39) probably benign Het
Pi4k2b A G 5: 52,905,765 (GRCm39) E102G probably benign Het
Pou2f1 A G 1: 165,762,382 (GRCm39) C7R probably benign Het
Prpsap2 T C 11: 61,631,815 (GRCm39) R181G probably benign Het
Psd A G 19: 46,311,561 (GRCm39) probably benign Het
Ptgds T C 2: 25,359,622 (GRCm39) T22A probably benign Het
Rab21 A T 10: 115,151,097 (GRCm39) probably null Het
Relb T C 7: 19,346,582 (GRCm39) D330G probably damaging Het
Rhoc A T 3: 104,700,236 (GRCm39) T100S probably benign Het
Ryr1 G T 7: 28,802,389 (GRCm39) H744N probably damaging Het
Sardh C T 2: 27,129,458 (GRCm39) G280D probably damaging Het
Scyl2 A C 10: 89,493,729 (GRCm39) N346K possibly damaging Het
Sec16b T C 1: 157,362,970 (GRCm39) F267S probably damaging Het
Slc44a5 T A 3: 153,956,714 (GRCm39) M322K probably benign Het
St8sia4 T A 1: 95,519,508 (GRCm39) N327Y probably benign Het
Tbl1xr1 T A 3: 22,257,323 (GRCm39) Y395* probably null Het
Unc13c A T 9: 73,441,307 (GRCm39) S1897R probably benign Het
Vangl2 A G 1: 171,840,415 (GRCm39) S58P probably damaging Het
Vmn1r17 A G 6: 57,337,501 (GRCm39) I288T probably benign Het
Vmn1r236 A G 17: 21,507,508 (GRCm39) I209V probably benign Het
Zfp809 A G 9: 22,149,950 (GRCm39) Y149C probably damaging Het
Other mutations in Hnrnpu
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1136:Hnrnpu UTSW 1 178,158,790 (GRCm39) unclassified probably benign
R1205:Hnrnpu UTSW 1 178,159,734 (GRCm39) unclassified probably benign
R1317:Hnrnpu UTSW 1 178,157,822 (GRCm39) unclassified probably benign
R1318:Hnrnpu UTSW 1 178,157,822 (GRCm39) unclassified probably benign
R1778:Hnrnpu UTSW 1 178,152,806 (GRCm39) critical splice donor site probably benign
R3160:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3161:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3162:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R3162:Hnrnpu UTSW 1 178,158,690 (GRCm39) unclassified probably benign
R4408:Hnrnpu UTSW 1 178,158,368 (GRCm39) unclassified probably benign
R4667:Hnrnpu UTSW 1 178,159,746 (GRCm39) unclassified probably benign
R4833:Hnrnpu UTSW 1 178,161,459 (GRCm39) unclassified probably benign
R4906:Hnrnpu UTSW 1 178,156,938 (GRCm39) intron probably benign
R4923:Hnrnpu UTSW 1 178,159,017 (GRCm39) unclassified probably benign
R5000:Hnrnpu UTSW 1 178,156,941 (GRCm39) intron probably benign
R5256:Hnrnpu UTSW 1 178,163,458 (GRCm39) missense unknown
R5307:Hnrnpu UTSW 1 178,164,877 (GRCm39) missense unknown
R5911:Hnrnpu UTSW 1 178,157,737 (GRCm39) unclassified probably benign
R6931:Hnrnpu UTSW 1 178,158,997 (GRCm39) unclassified probably benign
R7061:Hnrnpu UTSW 1 178,163,691 (GRCm39) missense unknown
R7077:Hnrnpu UTSW 1 178,159,756 (GRCm39) missense unknown
R7391:Hnrnpu UTSW 1 178,164,643 (GRCm39) missense unknown
R7423:Hnrnpu UTSW 1 178,156,849 (GRCm39) intron probably benign
R7991:Hnrnpu UTSW 1 178,159,871 (GRCm39) missense unknown
R8037:Hnrnpu UTSW 1 178,159,917 (GRCm39) missense unknown
R8161:Hnrnpu UTSW 1 178,165,067 (GRCm39) missense possibly damaging 0.95
R8265:Hnrnpu UTSW 1 178,159,725 (GRCm39) missense unknown
R8537:Hnrnpu UTSW 1 178,161,199 (GRCm39) unclassified probably benign
Z1176:Hnrnpu UTSW 1 178,159,780 (GRCm39) missense unknown
Z1186:Hnrnpu UTSW 1 178,164,591 (GRCm39) missense probably benign 0.23
Posted On 2016-08-02