Incidental Mutation 'IGL01324:Hnrnph3'
ID74151
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnph3
Ensembl Gene ENSMUSG00000020069
Gene Nameheterogeneous nuclear ribonucleoprotein H3
SynonymshnRNP 2H9, Hnrph3
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.495) question?
Stock #IGL01324
Quality Score
Status
Chromosome10
Chromosomal Location63014664-63024217 bp(-) (GRCm38)
Type of Mutationmakesense
DNA Base Change (assembly) A to T at 63018124 bp
ZygosityHeterozygous
Amino Acid Change Stop codon to Lysine at position 72 (*72K)
Ref Sequence ENSEMBL: ENSMUSP00000118444 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000020263] [ENSMUST00000118898] [ENSMUST00000119567] [ENSMUST00000119814] [ENSMUST00000140743] [ENSMUST00000143594]
Predicted Effect unknown
Transcript: ENSMUST00000020263
AA Change: I118K
SMART Domains Protein: ENSMUSP00000020263
Gene: ENSMUSG00000020069
AA Change: I118K

DomainStartEndE-ValueType
RRM 17 89 1.11e-7 SMART
low complexity region 102 191 N/A INTRINSIC
RRM 196 266 7.96e-9 SMART
low complexity region 272 286 N/A INTRINSIC
low complexity region 294 341 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118898
AA Change: I118K

PolyPhen 2 Score 0.015 (Sensitivity: 0.96; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000112424
Gene: ENSMUSG00000020069
AA Change: I118K

DomainStartEndE-ValueType
RRM 17 89 1.11e-7 SMART
low complexity region 102 176 N/A INTRINSIC
RRM 181 251 7.96e-9 SMART
low complexity region 257 271 N/A INTRINSIC
low complexity region 279 326 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000119567
SMART Domains Protein: ENSMUSP00000113429
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 515 N/A INTRINSIC
FYVE 532 599 6.99e-24 SMART
Predicted Effect probably null
Transcript: ENSMUST00000119814
AA Change: *72K
SMART Domains Protein: ENSMUSP00000113134
Gene: ENSMUSG00000020069
AA Change: *72K

DomainStartEndE-ValueType
PDB:1WG5|A 10 39 3e-11 PDB
Blast:RRM 17 43 6e-9 BLAST
Predicted Effect probably null
Transcript: ENSMUST00000140743
AA Change: *72K
SMART Domains Protein: ENSMUSP00000118444
Gene: ENSMUSG00000020069
AA Change: *72K

DomainStartEndE-ValueType
PDB:1WG5|A 10 39 3e-11 PDB
Blast:RRM 17 43 6e-9 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141616
Predicted Effect probably benign
Transcript: ENSMUST00000143594
SMART Domains Protein: ENSMUSP00000115339
Gene: ENSMUSG00000020070

DomainStartEndE-ValueType
RUN 105 167 3.02e-22 SMART
coiled coil region 210 268 N/A INTRINSIC
coiled coil region 326 406 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143689
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 has two repeats of quasi-RRM domains that bind to RNAs. It is localized in nuclear bodies of the nucleus. This protein is involved in the splicing process and it also participates in early heat shock-induced splicing arrest by transiently leaving the hnRNP complexes. Several alternatively spliced transcript variants have been noted for this gene, however, not all are fully characterized. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ahnak G A 19: 9,003,032 G560D probably damaging Het
Ap1g1 T A 8: 109,832,782 D239E possibly damaging Het
Ap2a1 T A 7: 44,905,696 T482S probably damaging Het
BC004004 T C 17: 29,282,251 L58P probably damaging Het
Camsap1 C A 2: 25,933,623 V1472L possibly damaging Het
Ces3b A T 8: 105,093,252 E569V probably damaging Het
Commd6 G A 14: 101,640,302 probably benign Het
Ddx54 A G 5: 120,623,638 D493G probably benign Het
Dync1h1 C T 12: 110,626,865 R1189C probably damaging Het
Ern2 T A 7: 122,183,190 I68F possibly damaging Het
Eya4 A G 10: 23,116,551 probably null Het
Gda A T 19: 21,409,886 I325K probably damaging Het
Gmnn T C 13: 24,752,122 T190A probably benign Het
Hdac4 G A 1: 91,959,415 P801S probably damaging Het
Hoxd12 A T 2: 74,675,136 N17I probably damaging Het
Incenp G A 19: 9,883,728 R497C unknown Het
Iqsec1 C A 6: 90,689,703 R584L probably damaging Het
Kcnip1 A G 11: 33,645,603 M1T probably null Het
Kcnu1 T A 8: 25,849,707 S18T probably benign Het
Lepr T A 4: 101,768,068 D473E probably benign Het
Nfkbiz T C 16: 55,815,804 T564A probably damaging Het
Nsd3 C T 8: 25,662,820 T392I probably damaging Het
Olfr1490 T C 19: 13,654,933 I163T probably damaging Het
Olfr713 T C 7: 107,036,847 S231P probably damaging Het
P4ha2 A G 11: 54,120,158 D333G probably damaging Het
Parg T C 14: 32,296,185 probably benign Het
Psmc2 G A 5: 21,800,009 probably null Het
Rnf213 A G 11: 119,447,237 Y3354C probably damaging Het
Siglec1 T G 2: 131,085,541 D115A probably damaging Het
Slit3 G T 11: 35,610,702 G421V probably damaging Het
Srgap3 T A 6: 112,739,397 H590L probably damaging Het
Stk36 A C 1: 74,625,610 T628P possibly damaging Het
Stx12 A T 4: 132,863,265 M107K probably benign Het
Syne2 G T 12: 76,043,752 V5105F probably damaging Het
Tecta T C 9: 42,345,431 S1650G probably damaging Het
Tlr1 T C 5: 64,925,179 N685S probably damaging Het
Trio A G 15: 27,905,323 V60A probably benign Het
Ttyh3 G A 5: 140,631,513 R334W probably benign Het
Ube2u A G 4: 100,479,225 E15G possibly damaging Het
Ush2a G T 1: 188,848,992 V3690L probably benign Het
Xab2 A G 8: 3,621,232 V16A possibly damaging Het
Other mutations in Hnrnph3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02112:Hnrnph3 APN 10 63016405 critical splice donor site probably null
IGL02116:Hnrnph3 APN 10 63016076 intron probably benign
IGL02193:Hnrnph3 APN 10 63017277 missense probably damaging 0.98
IGL02211:Hnrnph3 APN 10 63017342 unclassified probably benign
IGL02410:Hnrnph3 APN 10 63015724 intron probably benign
IGL02616:Hnrnph3 APN 10 63019485 missense possibly damaging 0.66
IGL03033:Hnrnph3 APN 10 63018179 missense probably benign 0.00
IGL03367:Hnrnph3 APN 10 63017229 missense probably damaging 1.00
R0450:Hnrnph3 UTSW 10 63018215 missense probably benign 0.01
R0450:Hnrnph3 UTSW 10 63019500 missense probably damaging 0.99
R0469:Hnrnph3 UTSW 10 63018215 missense probably benign 0.01
R0469:Hnrnph3 UTSW 10 63019500 missense probably damaging 0.99
R1585:Hnrnph3 UTSW 10 63015800 critical splice donor site probably null
R4285:Hnrnph3 UTSW 10 63016468 missense probably damaging 1.00
R4706:Hnrnph3 UTSW 10 63017280 missense probably damaging 1.00
R5606:Hnrnph3 UTSW 10 63019443 missense possibly damaging 0.94
R5873:Hnrnph3 UTSW 10 63019391 critical splice donor site probably null
R5952:Hnrnph3 UTSW 10 63015595 intron probably benign
R6059:Hnrnph3 UTSW 10 63018862 unclassified probably benign
R6644:Hnrnph3 UTSW 10 63018893 unclassified probably benign
R7517:Hnrnph3 UTSW 10 63018895 missense unknown
Posted On2013-10-07