Incidental Mutation 'IGL02960:Zpr1'
ID365306
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Zpr1
Ensembl Gene ENSMUSG00000032078
Gene NameZPR1 zinc finger
SynonymsZfp259, ZPR1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL02960
Quality Score
Status
Chromosome9
Chromosomal Location46273064-46282643 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 46273551 bp
ZygosityHeterozygous
Amino Acid Change Histidine to Arginine at position 82 (H82R)
Ref Sequence ENSEMBL: ENSMUSP00000117725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034584] [ENSMUST00000121598] [ENSMUST00000156440] [ENSMUST00000213878] [ENSMUST00000214202] [ENSMUST00000215187] [ENSMUST00000215458]
PDB Structure
Crystal structure of tandem ZPR1 domains [X-RAY DIFFRACTION]
Predicted Effect possibly damaging
Transcript: ENSMUST00000034583
AA Change: H82R

PolyPhen 2 Score 0.935 (Sensitivity: 0.80; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000034583
Gene: ENSMUSG00000032078
AA Change: H82R

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Zpr1 49 207 1.47e-93 SMART
low complexity region 236 246 N/A INTRINSIC
Zpr1 257 387 1.56e-65 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000034584
SMART Domains Protein: ENSMUSP00000034584
Gene: ENSMUSG00000032079

DomainStartEndE-ValueType
Pfam:Apolipoprotein 52 264 5.1e-59 PFAM
Pfam:Apolipoprotein 258 315 1.8e-3 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114552
SMART Domains Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
Zpr1 12 150 5.57e-30 SMART
Zpr1 184 343 4.27e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000121598
SMART Domains Protein: ENSMUSP00000113413
Gene: ENSMUSG00000032079

DomainStartEndE-ValueType
Pfam:Apolipoprotein 51 305 8.1e-66 PFAM
low complexity region 312 323 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000125239
SMART Domains Protein: ENSMUSP00000123437
Gene: ENSMUSG00000032078

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
Blast:Zpr1 33 59 2e-12 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125791
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141763
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143511
Predicted Effect probably damaging
Transcript: ENSMUST00000156440
AA Change: H82R

PolyPhen 2 Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078
AA Change: H82R

DomainStartEndE-ValueType
low complexity region 9 30 N/A INTRINSIC
Zpr1 49 207 1.47e-93 SMART
low complexity region 236 246 N/A INTRINSIC
Zpr1 257 416 4.27e-90 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000213878
Predicted Effect probably benign
Transcript: ENSMUST00000214202
Predicted Effect probably benign
Transcript: ENSMUST00000215187
Predicted Effect probably benign
Transcript: ENSMUST00000215458
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215484
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is found in the cytoplasm of quiescent cells but translocates to the nucleolus in proliferating cells. The encoded protein interacts with survival motor neuron protein (SMN1) to enhance pre-mRNA splicing and to induce neuronal differentiation and axonal growth. Defects in this gene or the SMN1 gene can cause spinal muscular atrophy. Two transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Nov 2015]
PHENOTYPE: Homozygous null mice display embryonic lethality, fail to form a normal trophectoderm and fail to expand the inner cell mass. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700129C05Rik G A 14: 59,142,808 R14C probably benign Het
Adam29 A T 8: 55,872,666 L251* probably null Het
Atpaf2 T C 11: 60,405,824 E161G probably damaging Het
Brwd1 T C 16: 96,057,466 D381G probably damaging Het
Cept1 T A 3: 106,539,396 R45* probably null Het
Col3a1 A G 1: 45,328,455 E273G unknown Het
Cuzd1 T C 7: 131,320,103 N57D probably benign Het
Cyp2b13 A G 7: 26,061,676 K53E probably benign Het
Fadd T C 7: 144,580,539 E203G probably benign Het
Gm14548 T C 7: 3,897,079 T175A possibly damaging Het
Gm3159 G A 14: 4,400,552 probably null Het
Gpr137c T C 14: 45,246,433 F206L possibly damaging Het
Hephl1 G T 9: 15,084,319 T471N probably damaging Het
Ido1 A T 8: 24,593,329 probably benign Het
Krt40 C T 11: 99,539,867 probably null Het
Lrp2 T A 2: 69,455,453 probably benign Het
Lrrc8a T A 2: 30,257,013 L613H probably damaging Het
Mettl14 A G 3: 123,374,885 Y169H probably damaging Het
Nlrp4a A G 7: 26,449,730 Q254R probably benign Het
Olfr1211 A C 2: 88,929,784 M177R possibly damaging Het
Olfr1356 A T 10: 78,847,537 I126N probably damaging Het
Pkhd1 A T 1: 20,377,446 M2241K possibly damaging Het
Ptprd G A 4: 76,128,868 S387L probably damaging Het
Ryr1 A C 7: 29,060,053 L3264R probably damaging Het
Serpina16 G A 12: 103,675,379 T29I probably benign Het
Slc9a7 A G X: 20,186,143 M237T probably benign Het
Tbck A G 3: 132,722,783 T300A probably benign Het
Tcaf1 A C 6: 42,686,459 D162E probably benign Het
Unc80 G A 1: 66,678,058 probably benign Het
Usp17le A C 7: 104,768,740 H398Q probably benign Het
Utp15 G A 13: 98,252,881 T303M probably benign Het
Vmn2r86 A C 10: 130,453,767 D86E possibly damaging Het
Zmym2 T A 14: 56,938,413 C822S probably benign Het
Zp3r T C 1: 130,583,438 D336G possibly damaging Het
Other mutations in Zpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0077:Zpr1 UTSW 9 46273336 missense probably damaging 1.00
R0081:Zpr1 UTSW 9 46279697 missense probably damaging 0.99
R0674:Zpr1 UTSW 9 46275449 missense probably damaging 1.00
R2419:Zpr1 UTSW 9 46276192 splice site probably benign
R4956:Zpr1 UTSW 9 46274663 missense probably damaging 1.00
R4979:Zpr1 UTSW 9 46278342 missense probably benign 0.20
R5566:Zpr1 UTSW 9 46281075 missense possibly damaging 0.88
R6480:Zpr1 UTSW 9 46274711 missense probably benign 0.01
R6948:Zpr1 UTSW 9 46273641 critical splice donor site probably null
R7139:Zpr1 UTSW 9 46281059 missense probably damaging 1.00
R7366:Zpr1 UTSW 9 46273373 splice site probably null
R7996:Zpr1 UTSW 9 46273565 missense possibly damaging 0.95
Posted On2015-12-18