Incidental Mutation 'R7745:Hnrnph1'
ID 596807
Institutional Source Beutler Lab
Gene Symbol Hnrnph1
Ensembl Gene ENSMUSG00000007850
Gene Name heterogeneous nuclear ribonucleoprotein H1
Synonyms Hnrph1, E430005G16Rik
MMRRC Submission 045801-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7745 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 50267817-50277355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 50270324 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 43 (I43F)
Ref Sequence ENSEMBL: ENSMUSP00000076989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069304] [ENSMUST00000077817] [ENSMUST00000109142]
AlphaFold O35737
Predicted Effect probably damaging
Transcript: ENSMUST00000069304
AA Change: I43F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850
AA Change: I43F

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000077817
AA Change: I43F

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: I43F

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 437 N/A INTRINSIC
low complexity region 451 472 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000109142
AA Change: I43F

PolyPhen 2 Score 0.997 (Sensitivity: 0.41; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850
AA Change: I43F

DomainStartEndE-ValueType
RRM 12 86 3.77e-10 SMART
RRM 112 184 2.59e-8 SMART
low complexity region 236 254 N/A INTRINSIC
RRM 290 360 1.45e-11 SMART
low complexity region 383 401 N/A INTRINSIC
low complexity region 413 433 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 96% (55/57)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a member of a subfamily of ubiquitously expressed heterogeneous nuclear ribonucleoproteins (hnRNPs). The hnRNPs are RNA binding proteins that complex with heterogeneous nuclear RNA. 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 may 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 RNA and is very similar to the family member HNRPF. This gene may be associated with hereditary lymphedema type I. Alternatively spliced transcript variants have been described [provided by RefSeq, Mar 2012]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aadac A C 3: 59,945,893 (GRCm39) S188R probably damaging Het
Aars1 T A 8: 111,768,289 (GRCm39) I220N probably damaging Het
Abca15 A G 7: 119,931,440 (GRCm39) N16S probably damaging Het
Adck1 A T 12: 88,423,570 (GRCm39) M358L probably benign Het
Adck5 A T 15: 76,478,748 (GRCm39) Q345L probably benign Het
Adgrl2 A G 3: 148,542,094 (GRCm39) F876S probably damaging Het
Aebp2 T A 6: 140,569,584 (GRCm39) L55Q unknown Het
Ampd2 C A 3: 107,987,432 (GRCm39) V134L probably benign Het
Aox3 T C 1: 58,215,676 (GRCm39) V1036A possibly damaging Het
Aox4 A G 1: 58,279,866 (GRCm39) D494G probably benign Het
Cacna1a C A 8: 85,286,023 (GRCm39) H889Q probably benign Het
Cacna1c T C 6: 119,029,587 (GRCm39) D151G Het
Car8 A G 4: 8,237,939 (GRCm39) V92A possibly damaging Het
Ccdc8 G T 7: 16,729,614 (GRCm39) A368S unknown Het
Ccng2 C G 5: 93,421,202 (GRCm39) S237R probably benign Het
Cfap57 C T 4: 118,472,128 (GRCm39) V84I probably benign Het
Cntnap5a A G 1: 116,370,013 (GRCm39) I877V probably benign Het
Copa A T 1: 171,939,509 (GRCm39) D582V probably damaging Het
Cpne2 T G 8: 95,295,312 (GRCm39) S466A probably damaging Het
Crybg2 A G 4: 133,816,156 (GRCm39) K1311R possibly damaging Het
Csmd1 A G 8: 15,982,461 (GRCm39) probably null Het
Dnah2 A T 11: 69,342,144 (GRCm39) C2947* probably null Het
Exoc1 A T 5: 76,709,359 (GRCm39) K656* probably null Het
Exoc8 T C 8: 125,622,558 (GRCm39) N603S probably benign Het
Fam171a1 T A 2: 3,226,483 (GRCm39) C539S possibly damaging Het
Fastkd5 A T 2: 130,456,988 (GRCm39) I534K probably damaging Het
Fbn1 T C 2: 125,145,115 (GRCm39) D2708G probably benign Het
Fhad1 A G 4: 141,618,250 (GRCm39) L1392P probably benign Het
Fras1 A T 5: 96,874,754 (GRCm39) T2306S probably benign Het
Gdf7 G T 12: 8,351,854 (GRCm39) A27E unknown Het
Igkv8-27 T A 6: 70,148,999 (GRCm39) S52C probably benign Het
Jmjd1c T C 10: 67,052,824 (GRCm39) F24L probably damaging Het
Knl1 T G 2: 118,902,037 (GRCm39) L1246R probably benign Het
Limk2 C T 11: 3,305,896 (GRCm39) S191N probably damaging Het
Mdga2 C A 12: 66,736,125 (GRCm39) A368S possibly damaging Het
Mdga2 G A 12: 66,736,124 (GRCm39) A368V probably damaging Het
Med24 A T 11: 98,595,793 (GRCm39) L966Q probably damaging Het
Mgll T C 6: 88,702,770 (GRCm39) V23A possibly damaging Het
Nedd1 C T 10: 92,550,034 (GRCm39) D84N probably benign Het
Obscn A C 11: 58,951,681 (GRCm39) L4024R probably damaging Het
Or5k1b A T 16: 58,580,782 (GRCm39) Y252* probably null Het
Pcnx2 T C 8: 126,577,846 (GRCm39) I944V probably benign Het
Pecr T C 1: 72,306,157 (GRCm39) probably null Het
Phf3 A T 1: 30,843,305 (GRCm39) W1885R probably damaging Het
Pitpnm2 C G 5: 124,266,768 (GRCm39) A697P probably benign Het
Piwil2 T A 14: 70,631,638 (GRCm39) H602L probably benign Het
Pprc1 T C 19: 46,053,781 (GRCm39) S1104P unknown Het
Prkar1a T A 11: 109,544,673 (GRCm39) Y21* probably null Het
Prl2c3 A T 13: 12,813,186 (GRCm39) Y9* probably null Het
Rhbdl3 T A 11: 80,214,405 (GRCm39) L172Q possibly damaging Het
Rsph3a T G 17: 8,198,075 (GRCm39) L484W probably damaging Het
Sbno1 A T 5: 124,530,962 (GRCm39) S809T probably benign Het
Stmnd1 T A 13: 46,453,077 (GRCm39) V251E possibly damaging Het
Stt3a A T 9: 36,662,535 (GRCm39) C241* probably null Het
Tas2r114 A T 6: 131,666,401 (GRCm39) M209K probably damaging Het
Tchh G T 3: 93,352,084 (GRCm39) R508L unknown Het
Tgfbr3l T C 8: 4,300,622 (GRCm39) S267P possibly damaging Het
Ttn T A 2: 76,598,144 (GRCm39) I19590F probably damaging Het
Vmn1r171 A G 7: 23,332,035 (GRCm39) T87A probably benign Het
Other mutations in Hnrnph1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0480:Hnrnph1 UTSW 11 50,276,589 (GRCm39) splice site probably benign
R2172:Hnrnph1 UTSW 11 50,273,643 (GRCm39) missense probably benign 0.11
R3150:Hnrnph1 UTSW 11 50,276,619 (GRCm39) missense probably benign
R4908:Hnrnph1 UTSW 11 50,269,237 (GRCm39) missense probably damaging 0.97
R5661:Hnrnph1 UTSW 11 50,275,507 (GRCm39) missense probably benign
R6194:Hnrnph1 UTSW 11 50,274,104 (GRCm39) missense possibly damaging 0.89
R7501:Hnrnph1 UTSW 11 50,270,383 (GRCm39) missense probably benign 0.00
R7650:Hnrnph1 UTSW 11 50,274,726 (GRCm39) missense probably benign
R8172:Hnrnph1 UTSW 11 50,270,732 (GRCm39) missense probably damaging 0.99
R9712:Hnrnph1 UTSW 11 50,276,696 (GRCm39) missense unknown
X0021:Hnrnph1 UTSW 11 50,270,306 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GCATTGAGTTACCTTGTTGGACTAG -3'
(R):5'- CATTTCCATGCGGTCAAATACC -3'

Sequencing Primer
(F):5'- ACCTTGTTGGACTAGGAATATATCC -3'
(R):5'- GGGTAAGACCTCTATGTGTTTAAACG -3'
Posted On 2019-11-26