Incidental Mutation 'IGL00900:Hnrnpa1'
ID29027
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Hnrnpa1
Ensembl Gene ENSMUSG00000046434
Gene Nameheterogeneous nuclear ribonucleoprotein A1
SynonymsHdp, hnrnp-A, Hnrpa1, D15Ertd119e
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.947) question?
Stock #IGL00900
Quality Score
Status
Chromosome15
Chromosomal Location103240432-103246692 bp(+) (GRCm38)
Type of Mutationintron
DNA Base Change (assembly) A to G at 103243739 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000155311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000036004] [ENSMUST00000075192] [ENSMUST00000087351] [ENSMUST00000118152] [ENSMUST00000133600] [ENSMUST00000134554] [ENSMUST00000149111] [ENSMUST00000156927] [ENSMUST00000230171] [ENSMUST00000230489] [ENSMUST00000231141]
Predicted Effect unknown
Transcript: ENSMUST00000036004
AA Change: Y342C
SMART Domains Protein: ENSMUSP00000042658
Gene: ENSMUSG00000046434
AA Change: Y342C

DomainStartEndE-ValueType
RRM 15 87 6.44e-27 SMART
RRM 106 178 6.86e-22 SMART
low complexity region 190 321 N/A INTRINSIC
low complexity region 331 346 N/A INTRINSIC
low complexity region 356 370 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000075192
SMART Domains Protein: ENSMUSP00000074684
Gene: ENSMUSG00000058794

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
BRLZ 264 328 6.56e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000087351
AA Change: Y289C
SMART Domains Protein: ENSMUSP00000084609
Gene: ENSMUSG00000046434
AA Change: Y289C

DomainStartEndE-ValueType
RRM 15 87 6.44e-27 SMART
RRM 106 178 6.86e-22 SMART
Pfam:HnRNPA1 257 292 4e-18 PFAM
low complexity region 303 317 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000118152
SMART Domains Protein: ENSMUSP00000113157
Gene: ENSMUSG00000009575

DomainStartEndE-ValueType
CHROMO 19 71 1.1e-18 SMART
ChSh 115 177 1.42e-30 SMART
CHROMO 120 172 3.6e-1 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000133600
SMART Domains Protein: ENSMUSP00000121817
Gene: ENSMUSG00000058794

DomainStartEndE-ValueType
low complexity region 76 91 N/A INTRINSIC
BRLZ 287 351 6.56e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134554
SMART Domains Protein: ENSMUSP00000117474
Gene: ENSMUSG00000058794

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
BRLZ 264 328 6.56e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000149111
SMART Domains Protein: ENSMUSP00000122476
Gene: ENSMUSG00000058794

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
BRLZ 264 328 6.56e-10 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000156927
SMART Domains Protein: ENSMUSP00000114160
Gene: ENSMUSG00000058794

DomainStartEndE-ValueType
low complexity region 53 68 N/A INTRINSIC
BRLZ 264 328 6.56e-10 SMART
Predicted Effect unknown
Transcript: ENSMUST00000230171
AA Change: Y289C
Predicted Effect unknown
Transcript: ENSMUST00000230489
AA Change: Y342C
Predicted Effect probably benign
Transcript: ENSMUST00000231141
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a knock-out allele exhibit prenatal and neonatal lethality, dilated cardiacmyopathy, and hypoplastic tongue and intercostal muscles. Mice heterozygous for a knock-out allele exhibit altered cardiac signaling, increased heart rate and increased systemic arterial systolic blood pressure. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T C 11: 84,470,557 probably benign Het
Agap3 G A 5: 24,476,368 probably benign Het
Angptl2 A T 2: 33,243,772 M369L probably benign Het
Arhgef11 A G 3: 87,683,560 D36G possibly damaging Het
Ccnt1 A G 15: 98,554,633 V134A probably damaging Het
Ces1e T C 8: 93,217,617 H191R probably damaging Het
Dhh A G 15: 98,898,220 probably benign Het
Edil3 C A 13: 89,289,533 H418N probably benign Het
Fam161b T C 12: 84,355,969 I296V probably benign Het
Focad T A 4: 88,129,023 N86K probably damaging Het
Foxn1 C T 11: 78,371,283 G87S probably benign Het
Glipr1l2 T C 10: 112,097,982 Y220H probably benign Het
Hnrnpm C A 17: 33,649,902 R517L probably damaging Het
Ipo11 T C 13: 106,847,444 M797V possibly damaging Het
Klhdc2 T A 12: 69,303,534 F118I probably benign Het
Mtap T A 4: 89,172,357 Y221* probably null Het
Myh2 T C 11: 67,179,384 V414A probably damaging Het
Ncor2 A T 5: 125,025,784 Y1999N probably damaging Het
Olfr1167 A G 2: 88,149,260 F253S possibly damaging Het
Oxsm A G 14: 16,242,023 S249P probably damaging Het
Pabpc4l T A 3: 46,447,072 I46F possibly damaging Het
Pcnx2 A G 8: 125,863,236 probably benign Het
Rasal2 A G 1: 157,411,929 S4P possibly damaging Het
Reln A G 5: 21,980,117 V1534A probably damaging Het
Rnf138 T A 18: 21,020,960 D174E possibly damaging Het
Sh3pxd2a T A 19: 47,314,155 N162Y probably benign Het
Slc6a4 A T 11: 77,023,180 T519S probably benign Het
Slfn9 A T 11: 82,981,371 C846* probably null Het
Ssfa2 G A 2: 79,660,478 R980Q probably damaging Het
Trip12 A G 1: 84,724,764 S1945P possibly damaging Het
Vmn1r232 A G 17: 20,914,132 F69L probably benign Het
Zeb2 T C 2: 44,997,275 D545G probably damaging Het
Other mutations in Hnrnpa1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00726:Hnrnpa1 APN 15 103242437 missense probably benign 0.04
IGL02949:Hnrnpa1 APN 15 103242111 missense probably damaging 1.00
R1920:Hnrnpa1 UTSW 15 103242272 missense possibly damaging 0.85
R5651:Hnrnpa1 UTSW 15 103240528 missense possibly damaging 0.81
R7310:Hnrnpa1 UTSW 15 103241457 missense probably damaging 0.99
R7811:Hnrnpa1 UTSW 15 103241473 missense possibly damaging 0.94
Posted On2013-04-17