Incidental Mutation 'R2392:Hnrnpf'
ID 318118
Institutional Source Beutler Lab
Gene Symbol Hnrnpf
Ensembl Gene ENSMUSG00000042079
Gene Name heterogeneous nuclear ribonucleoprotein F
Synonyms Hnrpf, 4833420I20Rik
MMRRC Submission 040360-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.956) question?
Stock # R2392 (G1)
Quality Score 39
Status Validated
Chromosome 6
Chromosomal Location 117877301-117902583 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 117901829 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Aspartic acid at position 371 (A371D)
Ref Sequence ENSEMBL: ENSMUSP00000136700 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000035493] [ENSMUST00000163168] [ENSMUST00000167182] [ENSMUST00000177570] [ENSMUST00000177743] [ENSMUST00000177918] [ENSMUST00000179224] [ENSMUST00000180341] [ENSMUST00000180020] [ENSMUST00000179478]
AlphaFold Q9Z2X1
Predicted Effect possibly damaging
Transcript: ENSMUST00000035493
AA Change: A371D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000045048
Gene: ENSMUSG00000042079
AA Change: A371D

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 possibly damaging
Transcript: ENSMUST00000163168
AA Change: A371D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000130023
Gene: ENSMUSG00000042079
AA Change: A371D

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 possibly damaging
Transcript: ENSMUST00000167182
AA Change: A371D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000126817
Gene: ENSMUSG00000042079
AA Change: A371D

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: ENSMUST00000177570
SMART Domains Protein: ENSMUSP00000136162
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
RRM 12 86 1.11e-7 SMART
RRM 112 184 2.38e-7 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 possibly damaging
Transcript: ENSMUST00000180341
AA Change: A371D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000136700
Gene: ENSMUSG00000042079
AA Change: A371D

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 possibly damaging
Transcript: ENSMUST00000180020
AA Change: A371D

PolyPhen 2 Score 0.673 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000137632
Gene: ENSMUSG00000042079
AA Change: A371D

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: ENSMUST00000179478
SMART Domains Protein: ENSMUSP00000136436
Gene: ENSMUSG00000042079

DomainStartEndE-ValueType
RRM 12 86 1.11e-7 SMART
RRM 112 184 2.38e-7 SMART
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 97.0%
  • 20x: 94.1%
Validation Efficiency 96% (53/55)
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: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 A T 1: 71,297,264 (GRCm39) S2409T probably damaging Het
Acap2 A G 16: 30,958,458 (GRCm39) F120S probably damaging Het
Akr1c6 A G 13: 4,484,477 (GRCm39) probably null Het
Bptf C A 11: 106,963,573 (GRCm39) A1874S probably damaging Het
Ccnl1 A G 3: 65,856,173 (GRCm39) V244A probably damaging Het
Cenpe T G 3: 134,953,874 (GRCm39) L1628R probably damaging Het
Cfap54 A G 10: 92,860,873 (GRCm39) probably null Het
Chchd7 T A 4: 3,943,381 (GRCm39) probably null Het
Col9a2 C G 4: 120,911,455 (GRCm39) R599G probably damaging Het
Crybg2 G T 4: 133,799,925 (GRCm39) V362L probably benign Het
Ddx11 T A 17: 66,456,968 (GRCm39) V791E probably damaging Het
Disp1 G A 1: 182,868,731 (GRCm39) P1230S probably benign Het
Elp5 T C 11: 69,865,928 (GRCm39) H116R probably benign Het
Epb42 T C 2: 120,860,468 (GRCm39) E177G possibly damaging Het
F13a1 T A 13: 37,127,971 (GRCm39) I336F possibly damaging Het
Fabp3 C T 4: 130,206,180 (GRCm39) T57I probably benign Het
Fcsk A G 8: 111,616,356 (GRCm39) M453T probably benign Het
Hacd2 A T 16: 34,926,748 (GRCm39) E249V probably benign Het
Jmjd1c A G 10: 67,065,683 (GRCm39) T1703A probably damaging Het
Kcnj13 G A 1: 87,314,622 (GRCm39) T200I possibly damaging Het
Kif1b G A 4: 149,305,077 (GRCm39) T949M possibly damaging Het
Klhl35 G A 7: 99,123,031 (GRCm39) A552T possibly damaging Het
Krt74 A G 15: 101,665,236 (GRCm39) noncoding transcript Het
Krtap14 T A 16: 88,622,597 (GRCm39) probably null Het
Lrrc45 A G 11: 120,610,365 (GRCm39) N492S probably benign Het
Lrrcc1 T A 3: 14,601,580 (GRCm39) N114K probably damaging Het
Mfsd2b T C 12: 4,915,164 (GRCm39) D375G possibly damaging Het
Mgat4a A G 1: 37,537,785 (GRCm39) L44P probably damaging Het
Mttp A C 3: 137,800,782 (GRCm39) D774E probably damaging Het
Myo5a T C 9: 75,116,521 (GRCm39) V1554A probably benign Het
Nes C T 3: 87,883,250 (GRCm39) A503V probably benign Het
Nme8 A G 13: 19,873,113 (GRCm39) probably null Het
Nr4a1 A G 15: 101,172,075 (GRCm39) D583G possibly damaging Het
Or12d17 A G 17: 37,777,310 (GRCm39) Y71C probably damaging Het
Or5k14 A G 16: 58,692,797 (GRCm39) S239P probably damaging Het
Pnpla8 T A 12: 44,358,287 (GRCm39) L746I probably damaging Het
Ppp1r7 A T 1: 93,282,063 (GRCm39) I205F probably benign Het
Psd4 C A 2: 24,284,679 (GRCm39) P181Q probably damaging Het
Ripor2 G A 13: 24,890,206 (GRCm39) V694I probably benign Het
Scn10a A G 9: 119,456,268 (GRCm39) S1185P possibly damaging Het
Sec23b T A 2: 144,427,507 (GRCm39) probably null Het
Slfn2 A G 11: 82,956,154 (GRCm39) N12S possibly damaging Het
Slfn4 A G 11: 83,076,248 (GRCm39) K38R possibly damaging Het
Smarca2 G T 19: 26,618,050 (GRCm39) probably null Het
Taar4 A G 10: 23,837,172 (GRCm39) T261A possibly damaging Het
Tbl2 A G 5: 135,185,368 (GRCm39) D159G probably benign Het
Tmem120a T C 5: 135,770,892 (GRCm39) E55G probably damaging Het
Ttc21b A G 2: 66,037,794 (GRCm39) probably null Het
Vill A T 9: 118,896,628 (GRCm39) probably benign Het
Vmn2r28 A T 7: 5,487,130 (GRCm39) M511K probably damaging Het
Vmn2r81 A T 10: 79,110,516 (GRCm39) D543V probably damaging Het
Wdr95 A G 5: 149,504,135 (GRCm39) T314A probably benign Het
Zbtb8b A G 4: 129,326,982 (GRCm39) I61T probably damaging Het
Other mutations in Hnrnpf
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Hnrnpf APN 6 117,884,094 (GRCm39) intron probably benign
R4786:Hnrnpf UTSW 6 117,900,857 (GRCm39) missense probably damaging 1.00
R8871:Hnrnpf UTSW 6 117,900,811 (GRCm39) missense probably benign
R8889:Hnrnpf UTSW 6 117,901,753 (GRCm39) missense probably benign
Z1176:Hnrnpf UTSW 6 117,900,745 (GRCm39) missense probably benign 0.28
Predicted Primers PCR Primer
(F):5'- TGCCCTACAAAGCAACGGAG -3'
(R):5'- ATTGGCTGCCTGTGAAATTTTC -3'

Sequencing Primer
(F):5'- CCACTCAACCCTGTGAGAGTTC -3'
(R):5'- GCTGCCTGTGAAATTTTCTGATTG -3'
Posted On 2015-06-10