Incidental Mutation 'IGL01803:Hnrnpf'
ID155566
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpf
Ensembl Gene ENSMUSG00000042079
Gene Nameheterogeneous nuclear ribonucleoprotein F
SynonymsHnrpf, 4833420I20Rik
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.971) question?
Stock #IGL01803
Quality Score
Status
Chromosome6
Chromosomal Location117900324-117925622 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) T to C at 117907133 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136751 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035493] [ENSMUST00000163168] [ENSMUST00000167182] [ENSMUST00000177743] [ENSMUST00000177918] [ENSMUST00000179224]
Predicted Effect probably benign
Transcript: ENSMUST00000035493
SMART Domains Protein: ENSMUSP00000045048
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
RRM 12 86 1.11e-7 SMART
RRM 112 184 2.38e-7 SMART
low complexity region 233 254 N/A INTRINSIC
RRM 290 360 1.03e-11 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000035534
SMART Domains Protein: ENSMUSP00000047075
Gene: ENSMUSG00000042087

DomainStartEndE-ValueType
low complexity region 23 31 N/A INTRINSIC
low complexity region 37 71 N/A INTRINSIC
low complexity region 72 87 N/A INTRINSIC
low complexity region 151 167 N/A INTRINSIC
low complexity region 170 184 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000163168
SMART Domains Protein: ENSMUSP00000130023
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
RRM 12 86 1.11e-7 SMART
RRM 112 184 2.38e-7 SMART
low complexity region 233 254 N/A INTRINSIC
RRM 290 360 1.03e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000167182
SMART Domains Protein: ENSMUSP00000126817
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
RRM 12 86 1.11e-7 SMART
RRM 112 184 2.38e-7 SMART
low complexity region 233 254 N/A INTRINSIC
RRM 290 360 1.03e-11 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000177743
Predicted Effect probably benign
Transcript: ENSMUST00000177918
SMART Domains Protein: ENSMUSP00000137091
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
Pfam:RRM_6 13 70 7.4e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000179224
Predicted Effect noncoding transcript
Transcript: ENSMUST00000204444
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 that complex with heterogeneous nuclear RNA (hnRNA). These proteins are associated with pre-mRNAs in the nucleus and regulate alternative splicing, polyadenylation, 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 has three repeats of quasi-RRM domains that bind to RNAs which have guanosine-rich sequences. This protein is very similar to the family member hnRPH. Multiple alternatively spliced variants, encoding the same protein, have been identified. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 58,952,469 L532Q probably damaging Het
Bod1l A T 5: 41,817,389 V2194D probably damaging Het
Cenpf G A 1: 189,654,771 Q1771* probably null Het
Cfap100 C A 6: 90,415,735 R131L probably benign Het
Coch A T 12: 51,603,299 Q357L probably benign Het
Col14a1 A G 15: 55,418,814 T824A unknown Het
Dnah9 T C 11: 66,118,829 Y744C probably damaging Het
Dusp13 A G 14: 21,733,839 V201A probably damaging Het
Egf T A 3: 129,736,766 H249L probably benign Het
Elmod1 G A 9: 53,931,480 P132L probably benign Het
Eps8l2 T C 7: 141,358,230 V459A probably benign Het
Fbn1 T C 2: 125,350,287 D1434G probably damaging Het
Fbn1 G A 2: 125,301,725 T2828I probably benign Het
Gbp9 C T 5: 105,094,173 D173N probably damaging Het
Gbp9 T C 5: 105,085,018 D256G probably damaging Het
Gm11492 G A 11: 87,568,249 S483N probably benign Het
Gpsm1 G A 2: 26,346,909 A580T probably damaging Het
Krt33a T C 11: 100,012,017 E327G probably benign Het
M1ap T A 6: 83,005,584 I283K probably benign Het
Mars2 A G 1: 55,237,996 S253G probably damaging Het
Myh6 A T 14: 54,944,543 M1767K probably damaging Het
Myo3a T A 2: 22,241,115 D16E probably damaging Het
Pitrm1 T A 13: 6,579,435 Y978N probably benign Het
Plekha6 G T 1: 133,272,414 E66* probably null Het
Polk C T 13: 96,504,522 V176M probably damaging Het
Pom121 G T 5: 135,381,609 probably benign Het
Rnf213 T A 11: 119,441,307 D2447E probably damaging Het
Sall3 T C 18: 80,969,832 M1130V possibly damaging Het
Scn3a A G 2: 65,521,783 probably benign Het
Sel1l A T 12: 91,830,730 M241K probably benign Het
Ssh2 T G 11: 77,425,330 L259R probably damaging Het
Tnr G T 1: 159,868,243 G579W probably damaging Het
Vmn1r85 G T 7: 13,084,569 A216D probably damaging Het
Vmn2r83 C A 10: 79,469,060 H35N probably benign Het
Zar1l T A 5: 150,518,104 Y19F probably benign Het
Other mutations in Hnrnpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
R2392:Hnrnpf UTSW 6 117924868 missense possibly damaging 0.67
R4786:Hnrnpf UTSW 6 117923896 missense probably damaging 1.00
Z1176:Hnrnpf UTSW 6 117923784 missense probably benign 0.28
Posted On2014-02-04