Incidental Mutation 'IGL03087:Hnrnpdl'
ID418137
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpdl
Ensembl Gene ENSMUSG00000029328
Gene Nameheterogeneous nuclear ribonucleoprotein D-like
SynonymsJKTBP, D5Wsu145e, hnRNP-DL, D5Ertd650e, Hnrpdl
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.232) question?
Stock #IGL03087
Quality Score
Status
Chromosome5
Chromosomal Location100033577-100039664 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 100037601 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Aspartic acid at position 149 (E149D)
Gene Model predicted gene model for transcript(s): [ENSMUST00000031268] [ENSMUST00000086900] [ENSMUST00000128187] [ENSMUST00000149384] [ENSMUST00000169390]
Predicted Effect probably benign
Transcript: ENSMUST00000031268
SMART Domains Protein: ENSMUSP00000031268
Gene: ENSMUSG00000029326

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-25 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000086900
AA Change: E247D

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000084114
Gene: ENSMUSG00000029328
AA Change: E247D

DomainStartEndE-ValueType
low complexity region 31 57 N/A INTRINSIC
low complexity region 70 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
RRM 149 221 1.74e-23 SMART
RRM 234 306 3.56e-20 SMART
low complexity region 315 344 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 370 393 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000128187
AA Change: E247D

PolyPhen 2 Score 0.623 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000121005
Gene: ENSMUSG00000029328
AA Change: E247D

DomainStartEndE-ValueType
low complexity region 31 57 N/A INTRINSIC
low complexity region 70 88 N/A INTRINSIC
low complexity region 99 109 N/A INTRINSIC
RRM 149 221 1.74e-23 SMART
RRM 234 306 3.56e-20 SMART
low complexity region 315 344 N/A INTRINSIC
low complexity region 347 362 N/A INTRINSIC
low complexity region 370 393 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135424
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141337
Predicted Effect probably benign
Transcript: ENSMUST00000149384
SMART Domains Protein: ENSMUSP00000117589
Gene: ENSMUSG00000029328

DomainStartEndE-ValueType
low complexity region 10 20 N/A INTRINSIC
Blast:RRM 28 59 1e-13 BLAST
low complexity region 63 83 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000151323
Predicted Effect probably damaging
Transcript: ENSMUST00000153442
AA Change: E149D

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118555
Gene: ENSMUSG00000029328
AA Change: E149D

DomainStartEndE-ValueType
RRM 52 124 1.74e-23 SMART
RRM 137 209 3.56e-20 SMART
low complexity region 218 247 N/A INTRINSIC
low complexity region 250 265 N/A INTRINSIC
low complexity region 273 296 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000169390
SMART Domains Protein: ENSMUSP00000129704
Gene: ENSMUSG00000029326

DomainStartEndE-ValueType
Pfam:HAD_2 13 227 2.6e-23 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000199518
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 RRM domains that bind to RNAs. Three alternatively spliced transcript variants have been described for this gene. One of the variants is probably not translated because the transcript is a candidate for nonsense-mediated mRNA decay. The protein isoforms encoded by this gene are similar to its family member HNRPD. [provided by RefSeq, May 2011]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1500035N22Rik C T 5: 24,997,632 probably benign Het
Acbd5 A G 2: 23,089,710 T261A probably benign Het
Ap1g2 G A 14: 55,103,036 T331I probably damaging Het
Ap4m1 A G 5: 138,174,804 T150A probably benign Het
Arid4a G T 12: 71,075,245 R478L possibly damaging Het
Bard1 T C 1: 71,067,130 D446G probably damaging Het
Baz2a T C 10: 128,122,313 L1087P probably damaging Het
Bnc1 A G 7: 81,974,642 L279P possibly damaging Het
Bphl A T 13: 34,073,711 H275L probably damaging Het
Ces1c T C 8: 93,118,414 I120V probably benign Het
Csmd3 T A 15: 47,977,033 Y946F probably damaging Het
Dnah8 G A 17: 30,784,144 V3606I probably benign Het
Eef2 A G 10: 81,181,247 N696S probably benign Het
Eno4 A G 19: 58,962,816 H420R possibly damaging Het
Enpp1 T A 10: 24,655,881 probably benign Het
Fbxo25 T C 8: 13,924,019 probably null Het
Glt8d1 T A 14: 31,010,096 F155I probably damaging Het
Golim4 A T 3: 75,878,673 H598Q possibly damaging Het
Ifngr2 G T 16: 91,563,004 *333L probably null Het
Ift88 T C 14: 57,477,957 S486P probably benign Het
Igsf9 T C 1: 172,490,743 I150T probably benign Het
Jag2 G A 12: 112,913,948 L670F possibly damaging Het
Kcnc2 T A 10: 112,455,747 I280N probably benign Het
Kif18a A G 2: 109,318,117 probably benign Het
Lct A G 1: 128,300,375 L1127P possibly damaging Het
Lonrf1 A T 8: 36,225,551 probably null Het
Lyst T A 13: 13,635,056 I437N probably damaging Het
Map3k1 A G 13: 111,749,025 S1453P probably benign Het
Mcmdc2 A G 1: 9,930,945 M482V possibly damaging Het
Mical1 T C 10: 41,482,690 S535P probably damaging Het
Myh3 T C 11: 67,090,972 F765L probably damaging Het
Nat8f6 A T 6: 85,808,517 Y217N probably damaging Het
Ndufaf1 A G 2: 119,655,799 probably benign Het
Neurod6 A T 6: 55,678,775 C292* probably null Het
Olfr1106 A T 2: 87,049,012 S75T possibly damaging Het
Olfr1255 A G 2: 89,816,671 E109G probably damaging Het
Olfr530 T A 7: 140,373,092 I173F probably damaging Het
Olfr809 A T 10: 129,776,261 M116L probably damaging Het
Olfr828 T C 9: 18,816,084 D70G probably damaging Het
Pcdhac2 A G 18: 37,145,682 N572D probably damaging Het
Pfpl A G 19: 12,428,877 N164S probably benign Het
Pi4kb A G 3: 94,984,764 R264G probably benign Het
Pla2g2c T A 4: 138,731,612 F10I probably benign Het
Rag2 G A 2: 101,630,214 V290I probably benign Het
Rhot2 G A 17: 25,841,141 probably benign Het
Rps6kc1 T C 1: 190,871,711 Y238C probably damaging Het
Scyl2 G T 10: 89,652,968 A495D possibly damaging Het
Sept4 T A 11: 87,585,245 probably benign Het
Serpina5 G T 12: 104,101,733 A18S probably benign Het
Slc25a11 T C 11: 70,645,207 T234A probably benign Het
Slc44a2 C T 9: 21,346,765 T435I probably benign Het
Tekt2 T A 4: 126,324,867 Q31L possibly damaging Het
Tfpi A G 2: 84,444,045 V199A possibly damaging Het
Trap1 G T 16: 4,044,701 probably null Het
Trmt1 A G 8: 84,695,233 Y213C probably damaging Het
Ubr4 C T 4: 139,450,357 R3184* probably null Het
Uroc1 G T 6: 90,363,103 probably benign Het
Vmn1r19 A G 6: 57,404,491 I10V probably benign Het
Zfhx2 G A 14: 55,072,845 A748V possibly damaging Het
Other mutations in Hnrnpdl
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02751:Hnrnpdl APN 5 100037974 missense probably damaging 1.00
IGL02981:Hnrnpdl APN 5 100037099 missense possibly damaging 0.75
R4756:Hnrnpdl UTSW 5 100037924 nonsense probably null
R4812:Hnrnpdl UTSW 5 100036472 unclassified probably benign
R5154:Hnrnpdl UTSW 5 100036512 nonsense probably null
R6082:Hnrnpdl UTSW 5 100036481 missense probably null 1.00
R6086:Hnrnpdl UTSW 5 100036481 missense probably null 1.00
R6143:Hnrnpdl UTSW 5 100036551 nonsense probably null
R6305:Hnrnpdl UTSW 5 100038658 unclassified probably benign
R6807:Hnrnpdl UTSW 5 100039136 missense probably null
R7309:Hnrnpdl UTSW 5 100037623 nonsense probably null
R7449:Hnrnpdl UTSW 5 100037155 missense probably damaging 0.99
R8098:Hnrnpdl UTSW 5 100037920 missense probably benign 0.05
X0020:Hnrnpdl UTSW 5 100036569 missense probably damaging 0.96
Posted On2016-08-02