Incidental Mutation 'R6948:Zpr1'
ID 540974
Institutional Source Beutler Lab
Gene Symbol Zpr1
Ensembl Gene ENSMUSG00000032078
Gene Name ZPR1 zinc finger
Synonyms Zfp259, ZPR1
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R6948 (G1)
Quality Score 225.009
Status Validated
Chromosome 9
Chromosomal Location 46184362-46193941 bp(+) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to G at 46184939 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000117725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034584] [ENSMUST00000121598] [ENSMUST00000156440] [ENSMUST00000156440] [ENSMUST00000213878] [ENSMUST00000214202] [ENSMUST00000215187] [ENSMUST00000215458]
AlphaFold Q62384
PDB Structure Crystal structure of tandem ZPR1 domains [X-RAY DIFFRACTION]
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 probably null
Transcript: ENSMUST00000156440
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078

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 null
Transcript: ENSMUST00000156440
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078

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
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 97% (36/37)
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: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arfgap2 A G 2: 91,097,524 (GRCm39) T107A probably benign Het
Calhm3 T A 19: 47,140,344 (GRCm39) M250L probably damaging Het
Catsperb A T 12: 101,447,327 (GRCm39) I276L probably benign Het
Cd70 T C 17: 57,456,594 (GRCm39) E3G probably damaging Het
Cenpj A T 14: 56,790,683 (GRCm39) S455R probably damaging Het
Cgn C G 3: 94,680,531 (GRCm39) E590D probably benign Het
Cpvl T A 6: 53,873,468 (GRCm39) I423F possibly damaging Het
Cyp2c54 T A 19: 40,034,636 (GRCm39) M345L possibly damaging Het
Dner T C 1: 84,383,738 (GRCm39) N549D probably damaging Het
Fat4 T A 3: 39,063,595 (GRCm39) L4517Q probably damaging Het
Fbxw11 A G 11: 32,692,597 (GRCm39) T523A probably damaging Het
Flg A G 3: 93,195,475 (GRCm39) probably benign Het
Gcfc2 A G 6: 81,910,734 (GRCm39) E237G probably benign Het
Ipo5 G T 14: 121,160,527 (GRCm39) M181I probably benign Het
Itprid1 C T 6: 55,955,470 (GRCm39) T1026I probably benign Het
Klhl32 A G 4: 24,629,250 (GRCm39) Y506H probably benign Het
Mast3 G A 8: 71,238,126 (GRCm39) T505I probably damaging Het
Mrgprx2 A T 7: 48,132,464 (GRCm39) V118D possibly damaging Het
Mtor T G 4: 148,621,209 (GRCm39) V1869G probably benign Het
Mycbp2 A T 14: 103,522,703 (GRCm39) M720K possibly damaging Het
Npy4r A G 14: 33,868,731 (GRCm39) Y186H probably benign Het
Obscn A G 11: 58,997,142 (GRCm39) S1520P probably damaging Het
Or10g1b A T 14: 52,627,614 (GRCm39) F205L probably benign Het
Pex1 A G 5: 3,655,994 (GRCm39) N274D probably benign Het
Plxnb1 T C 9: 108,945,702 (GRCm39) Y2078H probably damaging Het
Rasgrp1 T C 2: 117,129,085 (GRCm39) D178G probably damaging Het
Reln A G 5: 22,177,033 (GRCm39) S1878P probably damaging Het
Rims2 T C 15: 39,374,737 (GRCm39) V1033A probably benign Het
Scaf1 G T 7: 44,662,971 (GRCm39) S14* probably null Het
Serpinb9d A G 13: 33,384,706 (GRCm39) S228G possibly damaging Het
Slc22a14 C A 9: 119,060,482 (GRCm39) A93S probably damaging Het
Sox30 G A 11: 45,908,166 (GRCm39) V778M probably damaging Het
Tecrl T C 5: 83,457,097 (GRCm39) I128V probably benign Het
Trip10 T A 17: 57,569,448 (GRCm39) C491S probably damaging Het
Vmn1r26 A T 6: 57,985,718 (GRCm39) M157K probably damaging Het
Zbtb1 A T 12: 76,432,601 (GRCm39) S196C probably damaging Het
Zfp236 T C 18: 82,662,187 (GRCm39) D582G possibly damaging Het
Zfp384 A G 6: 125,001,873 (GRCm39) T125A probably benign Het
Other mutations in Zpr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02960:Zpr1 APN 9 46,184,849 (GRCm39) missense probably damaging 0.97
R0077:Zpr1 UTSW 9 46,184,634 (GRCm39) missense probably damaging 1.00
R0081:Zpr1 UTSW 9 46,190,995 (GRCm39) missense probably damaging 0.99
R0674:Zpr1 UTSW 9 46,186,747 (GRCm39) missense probably damaging 1.00
R2419:Zpr1 UTSW 9 46,187,490 (GRCm39) splice site probably benign
R4956:Zpr1 UTSW 9 46,185,961 (GRCm39) missense probably damaging 1.00
R4979:Zpr1 UTSW 9 46,189,640 (GRCm39) missense probably benign 0.20
R5566:Zpr1 UTSW 9 46,192,373 (GRCm39) missense possibly damaging 0.88
R6480:Zpr1 UTSW 9 46,186,009 (GRCm39) missense probably benign 0.01
R7139:Zpr1 UTSW 9 46,192,357 (GRCm39) missense probably damaging 1.00
R7366:Zpr1 UTSW 9 46,184,671 (GRCm39) splice site probably null
R7996:Zpr1 UTSW 9 46,184,863 (GRCm39) missense possibly damaging 0.95
R8169:Zpr1 UTSW 9 46,189,645 (GRCm39) missense possibly damaging 0.91
R8406:Zpr1 UTSW 9 46,185,400 (GRCm39) missense probably damaging 1.00
R8829:Zpr1 UTSW 9 46,192,344 (GRCm39) nonsense probably null
R9044:Zpr1 UTSW 9 46,190,995 (GRCm39) missense probably damaging 0.99
R9408:Zpr1 UTSW 9 46,186,747 (GRCm39) missense probably damaging 1.00
R9602:Zpr1 UTSW 9 46,184,663 (GRCm39) missense probably benign 0.00
Predicted Primers PCR Primer
(F):5'- CGTACAGGGTGTAAACAAGCTG -3'
(R):5'- TTCGCAAAGCACGTTCACC -3'

Sequencing Primer
(F):5'- GTGTAAACAAGCTGAAGTCATTCTCC -3'
(R):5'- GTTCACCACTCAAAGCAGCAG -3'
Posted On 2018-11-28