Incidental Mutation 'R7501:Hnrnph1'
ID 581489
Institutional Source Beutler Lab
Gene Symbol Hnrnph1
Ensembl Gene ENSMUSG00000007850
Gene Name heterogeneous nuclear ribonucleoprotein H1
Synonyms Hnrph1, E430005G16Rik
MMRRC Submission 045574-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R7501 (G1)
Quality Score 124.008
Status Validated
Chromosome 11
Chromosomal Location 50267817-50277355 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to C at 50270383 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 62 (E62D)
Ref Sequence ENSEMBL: ENSMUSP00000076989 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069304] [ENSMUST00000077817] [ENSMUST00000109142]
AlphaFold O35737
Predicted Effect possibly damaging
Transcript: ENSMUST00000069304
AA Change: E62D

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000070503
Gene: ENSMUSG00000007850
AA Change: E62D

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 benign
Transcript: ENSMUST00000077817
AA Change: E62D

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000076989
Gene: ENSMUSG00000007850
AA Change: E62D

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 possibly damaging
Transcript: ENSMUST00000109142
AA Change: E62D

PolyPhen 2 Score 0.909 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000104770
Gene: ENSMUSG00000007850
AA Change: E62D

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: 99.7%
  • 20x: 99.0%
Validation Efficiency 100% (61/61)
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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acad9 A G 3: 36,142,974 (GRCm39) N503S probably benign Het
Adam1a C T 5: 121,657,011 (GRCm39) A761T possibly damaging Het
Amn1 C T 6: 149,086,529 (GRCm39) M44I probably benign Het
Ankrd44 T C 1: 54,688,522 (GRCm39) E238G Het
Ap3b2 A T 7: 81,123,194 (GRCm39) I440K probably damaging Het
Atp2a1 G A 7: 126,049,344 (GRCm39) T566I probably benign Het
B3galnt1 T C 3: 69,482,632 (GRCm39) I210V probably benign Het
Bag5 T C 12: 111,676,722 (GRCm39) K367R probably benign Het
Cdc25b T C 2: 131,036,080 (GRCm39) Y410H probably damaging Het
Cgref1 G T 5: 31,102,800 (GRCm39) P7Q probably damaging Het
Cnot6 T C 11: 49,576,159 (GRCm39) I136V probably benign Het
Comp A G 8: 70,832,059 (GRCm39) D500G possibly damaging Het
Dnah7b T C 1: 46,395,714 (GRCm39) L3872P probably damaging Het
Dync2h1 A T 9: 7,175,336 (GRCm39) L91Q possibly damaging Het
Fancd2 T C 6: 113,525,364 (GRCm39) V280A possibly damaging Het
Fat4 T A 3: 39,012,597 (GRCm39) Y2297* probably null Het
Fem1c A T 18: 46,638,868 (GRCm39) M378K probably damaging Het
Gata6 A G 18: 11,054,082 (GRCm39) T4A probably damaging Het
Gatb G C 3: 85,544,297 (GRCm39) V422L probably damaging Het
Gfpt1 T A 6: 87,059,508 (GRCm39) D510E probably benign Het
Gria4 A T 9: 4,502,436 (GRCm39) Y366N probably benign Het
Gucy1b1 T C 3: 81,942,666 (GRCm39) H492R probably damaging Het
H2bc6 A G 13: 23,769,776 (GRCm39) I55T possibly damaging Het
Hecw2 T C 1: 53,953,031 (GRCm39) probably null Het
Itga2 A G 13: 115,012,095 (GRCm39) V274A probably damaging Het
Kdm5d T A Y: 941,488 (GRCm39) W1230R probably damaging Het
Lctl A T 9: 64,038,861 (GRCm39) M317L probably benign Het
Lrp6 T C 6: 134,463,471 (GRCm39) D570G probably damaging Het
Lrrc9 G T 12: 72,496,490 (GRCm39) M39I probably damaging Het
Ltbp2 A T 12: 84,877,419 (GRCm39) I402N probably damaging Het
Mst1 G A 9: 107,959,748 (GRCm39) G297D probably damaging Het
Muc6 G C 7: 141,217,659 (GRCm39) P2338R probably damaging Het
Nbr1 G A 11: 101,457,026 (GRCm39) R163Q probably damaging Het
Nlrp4f A G 13: 65,342,143 (GRCm39) F501L probably damaging Het
Nup133 A C 8: 124,649,153 (GRCm39) I563S probably benign Het
Oacyl T G 18: 65,858,369 (GRCm39) probably null Het
Oog4 CAA CA 4: 143,164,022 (GRCm39) probably null Het
Plxna2 C T 1: 194,326,203 (GRCm39) R46C possibly damaging Het
Ppp1r26 T A 2: 28,340,749 (GRCm39) D126E probably damaging Het
Prl6a1 A T 13: 27,500,282 (GRCm39) R84S possibly damaging Het
Ptprz1 C T 6: 23,001,746 (GRCm39) Q1279* probably null Het
Ptx4 C T 17: 25,344,166 (GRCm39) T472I possibly damaging Het
Rabgap1l A G 1: 160,528,358 (GRCm39) V416A probably damaging Het
Rbfox2 A T 15: 76,989,834 (GRCm39) D231E probably benign Het
Reln A T 5: 22,432,636 (GRCm39) F121L possibly damaging Het
Rfx7 G A 9: 72,524,054 (GRCm39) V415I probably benign Het
Scaf4 A T 16: 90,026,964 (GRCm39) M951K unknown Het
Sdf4 T C 4: 156,080,977 (GRCm39) probably null Het
Sec16a T C 2: 26,331,863 (GRCm39) T51A probably damaging Het
Sema3a A G 5: 13,607,008 (GRCm39) N281S probably damaging Het
Snai2 G A 16: 14,524,754 (GRCm39) V87I possibly damaging Het
Spata31f1e T C 4: 42,791,357 (GRCm39) E925G probably damaging Het
Synj2 T A 17: 6,040,514 (GRCm39) S197T possibly damaging Het
Syt6 A T 3: 103,495,018 (GRCm39) M328L probably benign Het
Tdrd12 A G 7: 35,177,516 (GRCm39) V946A unknown Het
Trat1 A T 16: 48,574,657 (GRCm39) probably null Het
Vmn1r75 T A 7: 11,614,997 (GRCm39) I243K possibly damaging Het
Vmn2r83 G A 10: 79,327,771 (GRCm39) C793Y probably damaging Het
Wnt9a G A 11: 59,219,583 (GRCm39) G203D probably damaging Het
Xrn2 T C 2: 146,871,676 (GRCm39) I366T probably damaging Het
Zfp280d A G 9: 72,269,224 (GRCm39) D787G possibly damaging Het
Zfp706 T C 15: 37,002,169 (GRCm39) T53A probably damaging 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
R7650:Hnrnph1 UTSW 11 50,274,726 (GRCm39) missense probably benign
R7745:Hnrnph1 UTSW 11 50,270,324 (GRCm39) missense probably damaging 1.00
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'- AGCATTGAGTTACCTTGTTGGAC -3'
(R):5'- AGATGACCATTTCCATGCGG -3'

Sequencing Primer
(F):5'- ACCTTGTTGGACTAGGAATATATCC -3'
(R):5'- TGACCATTTCCATGCGGTCAAATAC -3'
Posted On 2019-10-17