Incidental Mutation 'IGL01876:Hnrnpc'
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ID178908
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpc
Ensembl Gene ENSMUSG00000060373
Gene Nameheterogeneous nuclear ribonucleoprotein C
SynonymshnRNP C2, Hnrpc1, Hnrpc2, D14Wsu171e, Hnrpc, hnRNPC2, hnRNPC1, hnRNP C1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01876
Quality Score
Status
Chromosome14
Chromosomal Location52073377-52104028 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 52081873 bp
ZygosityHeterozygous
Amino Acid Change Asparagine to Serine at position 91 (N91S)
Ref Sequence ENSEMBL: ENSMUSP00000154212 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000111610] [ENSMUST00000164655] [ENSMUST00000226993] [ENSMUST00000227195] [ENSMUST00000227242] [ENSMUST00000227458] [ENSMUST00000227536] [ENSMUST00000228198] [ENSMUST00000228232] [ENSMUST00000228748] [ENSMUST00000228815]
Predicted Effect probably null
Transcript: ENSMUST00000111610
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000107237
Gene: ENSMUSG00000060373
AA Change: N91S

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 null
Transcript: ENSMUST00000164655
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000133052
Gene: ENSMUSG00000060373
AA Change: N91S

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: ENSMUST00000226993
Predicted Effect probably benign
Transcript: ENSMUST00000227195
AA Change: N91S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000227242
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000227458
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000227536
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228045
Predicted Effect probably null
Transcript: ENSMUST00000228198
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000228232
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably benign
Transcript: ENSMUST00000228748
AA Change: N91S

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Predicted Effect probably null
Transcript: ENSMUST00000228815
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: 24 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2010111I01Rik T C 13: 63,190,522 S570P probably damaging Het
Ap3b2 T A 7: 81,473,854 probably null Het
Api5 A G 2: 94,418,954 probably benign Het
Arhgap1 A G 2: 91,650,219 probably null Het
BC003331 G T 1: 150,382,338 T182N probably benign Het
C130026I21Rik A G 1: 85,254,186 probably benign Het
C330027C09Rik T C 16: 49,001,678 V223A probably damaging Het
Cldn6 G T 17: 23,681,184 V41F probably damaging Het
Dctn1 G T 6: 83,197,921 V1032L probably damaging Het
Eef2 T A 10: 81,180,270 F488L probably benign Het
Fars2 A G 13: 36,537,311 T410A probably benign Het
Magel2 T C 7: 62,378,827 V493A possibly damaging Het
Olfr1222 A T 2: 89,125,737 probably null Het
Olfr199 A G 16: 59,216,019 V198A possibly damaging Het
Pcnx2 G T 8: 125,866,031 S731R probably benign Het
Plekhm1 A G 11: 103,376,751 L798P probably damaging Het
Prkd1 T C 12: 50,366,348 E680G probably damaging Het
Rabggta T C 14: 55,718,671 T140A probably damaging Het
Slc2a1 G A 4: 119,133,378 D236N probably benign Het
Sptlc1 C A 13: 53,374,012 V39F probably benign Het
Svs1 A T 6: 48,990,036 R639S possibly damaging Het
Vmn1r6 A G 6: 57,002,461 K36R probably benign Het
Vmn2r-ps159 C T 4: 156,338,254 noncoding transcript Het
Wdpcp T A 11: 21,813,383 D581E possibly damaging Het
Other mutations in Hnrnpc
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02654:Hnrnpc APN 14 52084117 missense probably damaging 0.98
IGL03248:Hnrnpc APN 14 52075439 intron probably benign
R0502:Hnrnpc UTSW 14 52075172 splice site probably benign
R1663:Hnrnpc UTSW 14 52075395 missense probably damaging 1.00
R4496:Hnrnpc UTSW 14 52075431 missense probably benign 0.10
R5191:Hnrnpc UTSW 14 52077507 missense probably damaging 1.00
R7555:Hnrnpc UTSW 14 52075153 nonsense probably null
R7570:Hnrnpc UTSW 14 52075099 missense possibly damaging 0.53
R8035:Hnrnpc UTSW 14 52084262 missense possibly damaging 0.95
Z1177:Hnrnpc UTSW 14 52077429 missense possibly damaging 0.93
Posted On2014-05-07