Incidental Mutation 'IGL03248:Hnrnpc'
ID 414504
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpc
Ensembl Gene ENSMUSG00000060373
Gene Name heterogeneous nuclear ribonucleoprotein C
Synonyms D14Wsu171e, Hnrpc1, Hnrpc2, hnRNP C2, hnRNP C1, Hnrpc, hnRNPC1, hnRNPC2
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL03248
Quality Score
Status
Chromosome 14
Chromosomal Location 52310834-52341485 bp(-) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) G to A at 52312896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000154166 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111610] [ENSMUST00000164655] [ENSMUST00000227242] [ENSMUST00000227458] [ENSMUST00000227536] [ENSMUST00000228198] [ENSMUST00000228232] [ENSMUST00000228748]
AlphaFold Q9Z204
Predicted Effect probably benign
Transcript: ENSMUST00000111610
SMART Domains Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373

DomainStartEndE-ValueType
RRM 17 83 8.13e-15 SMART
low complexity region 112 121 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 175 191 N/A INTRINSIC
low complexity region 210 225 N/A INTRINSIC
low complexity region 260 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000164655
SMART Domains Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373

DomainStartEndE-ValueType
RRM 17 83 8.13e-15 SMART
low complexity region 112 121 N/A INTRINSIC
low complexity region 140 155 N/A INTRINSIC
low complexity region 175 191 N/A INTRINSIC
low complexity region 210 225 N/A INTRINSIC
low complexity region 260 303 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000227242
Predicted Effect noncoding transcript
Transcript: ENSMUST00000227288
Predicted Effect probably benign
Transcript: ENSMUST00000227458
Predicted Effect probably benign
Transcript: ENSMUST00000227536
Predicted Effect probably benign
Transcript: ENSMUST00000228198
Predicted Effect probably benign
Transcript: ENSMUST00000228232
Predicted Effect probably benign
Transcript: ENSMUST00000228748
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 complex 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 can act as a tetramer and is involved in the assembly of 40S hnRNP particles. Multiple transcript variants encoding at least two different isoforms have been described for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for a gene trapped allele fail to undergo gastrulation, appear to arrest at the egg cylinder stage, and are resorbed at various times thereafter. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd5 T C 9: 122,197,290 (GRCm39) F116S probably damaging Het
Accsl A G 2: 93,693,129 (GRCm39) probably benign Het
Adgrl2 T A 3: 148,523,036 (GRCm39) E165V probably damaging Het
Alb T C 5: 90,609,573 (GRCm39) probably benign Het
Ank2 C A 3: 126,749,519 (GRCm39) E503D probably damaging Het
Arhgef10 T C 8: 14,978,847 (GRCm39) V38A probably benign Het
Astn2 A G 4: 65,664,530 (GRCm39) probably benign Het
Bahcc1 G A 11: 120,159,235 (GRCm39) R154H probably damaging Het
Cep120 A G 18: 53,868,844 (GRCm39) Y112H probably benign Het
Chrna5 C T 9: 54,911,923 (GRCm39) T241I probably damaging Het
Clasp1 A G 1: 118,530,206 (GRCm39) S1215G probably benign Het
Ddx21 C T 10: 62,427,769 (GRCm39) R378Q possibly damaging Het
Dnah1 A T 14: 30,991,846 (GRCm39) L3052Q probably damaging Het
Dyrk4 G T 6: 126,861,016 (GRCm39) T445K probably benign Het
Ercc4 T C 16: 12,945,457 (GRCm39) W291R probably damaging Het
Flvcr1 A G 1: 190,757,939 (GRCm39) W76R probably damaging Het
Frmd3 A G 4: 74,046,455 (GRCm39) I132V possibly damaging Het
Gnb4 T C 3: 32,639,324 (GRCm39) D323G probably damaging Het
Hnrnpl T C 7: 28,513,505 (GRCm39) S202P probably benign Het
Hydin T A 8: 111,321,921 (GRCm39) F4524L probably damaging Het
Iars2 A G 1: 185,023,629 (GRCm39) probably benign Het
Ino80d A G 1: 63,107,341 (GRCm39) probably null Het
Itga8 C A 2: 12,137,327 (GRCm39) A13S probably benign Het
Man2a1 T C 17: 65,020,606 (GRCm39) F794S probably damaging Het
Mpp7 T C 18: 7,403,269 (GRCm39) D347G probably benign Het
Nup93 T C 8: 95,032,716 (GRCm39) L411P probably damaging Het
Or51f23 C T 7: 102,452,846 (GRCm39) Q54* probably null Het
Plin1 C T 7: 79,372,382 (GRCm39) V86I probably damaging Het
Rgs6 A G 12: 83,099,324 (GRCm39) probably benign Het
Shroom3 C T 5: 93,100,399 (GRCm39) P1473S probably benign Het
Slc12a8 A G 16: 33,371,397 (GRCm39) I178V probably damaging Het
Slc20a2 T A 8: 23,048,999 (GRCm39) S219T probably benign Het
Tasor C T 14: 27,198,649 (GRCm39) T1327I probably damaging Het
Tfeb T C 17: 48,097,920 (GRCm39) M36T probably benign Het
Trim33 G A 3: 103,218,289 (GRCm39) probably benign Het
Trnau1ap A G 4: 132,049,114 (GRCm39) Y30H probably damaging Het
Tulp1 T C 17: 28,578,298 (GRCm39) K276E possibly damaging Het
Uvssa T A 5: 33,549,160 (GRCm39) I340N probably damaging Het
Vmn1r32 T A 6: 66,529,897 (GRCm39) N293I possibly damaging Het
Xpc T C 6: 91,481,565 (GRCm39) N250S probably damaging Het
Ybey T C 10: 76,304,161 (GRCm39) I14V probably benign Het
Zfhx3 T C 8: 109,673,182 (GRCm39) Y1411H probably damaging Het
Other mutations in Hnrnpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01876:Hnrnpc APN 14 52,319,330 (GRCm39) missense probably null 0.01
IGL02654:Hnrnpc APN 14 52,321,574 (GRCm39) missense probably damaging 0.98
R0502:Hnrnpc UTSW 14 52,312,629 (GRCm39) splice site probably benign
R1663:Hnrnpc UTSW 14 52,312,852 (GRCm39) missense probably damaging 1.00
R4496:Hnrnpc UTSW 14 52,312,888 (GRCm39) missense probably benign 0.10
R5191:Hnrnpc UTSW 14 52,314,964 (GRCm39) missense probably damaging 1.00
R7555:Hnrnpc UTSW 14 52,312,610 (GRCm39) nonsense probably null
R7570:Hnrnpc UTSW 14 52,312,556 (GRCm39) missense possibly damaging 0.53
R8035:Hnrnpc UTSW 14 52,321,719 (GRCm39) missense possibly damaging 0.95
R8860:Hnrnpc UTSW 14 52,312,792 (GRCm39) missense possibly damaging 0.73
Z1177:Hnrnpc UTSW 14 52,314,886 (GRCm39) missense possibly damaging 0.93
Posted On 2016-08-02