Incidental Mutation 'R0081:Zpr1'
ID 19686
Institutional Source Beutler Lab
Gene Symbol Zpr1
Ensembl Gene ENSMUSG00000032078
Gene Name ZPR1 zinc finger
Synonyms Zfp259, ZPR1
MMRRC Submission 038368-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0081 (G1)
Quality Score 225
Status Validated
Chromosome 9
Chromosomal Location 46184362-46193941 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 46190995 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 300 (D300G)
Gene Model predicted gene model for transcript(s): [ENSMUST00000074957] [ENSMUST00000156440]
AlphaFold Q62384
Predicted Effect probably benign
Transcript: ENSMUST00000074957
SMART Domains Protein: ENSMUSP00000074490
Gene: ENSMUSG00000032077

DomainStartEndE-ValueType
low complexity region 25 48 N/A INTRINSIC
low complexity region 106 120 N/A INTRINSIC
internal_repeat_1 122 182 5.18e-30 PROSPERO
internal_repeat_1 174 234 5.18e-30 PROSPERO
low complexity region 394 417 N/A INTRINSIC
low complexity region 420 434 N/A INTRINSIC
Pfam:Bud13 478 620 2.8e-52 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000114552
AA Change: D300G

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000110199
Gene: ENSMUSG00000032078
AA Change: D300G

DomainStartEndE-ValueType
Zpr1 12 150 5.57e-30 SMART
Zpr1 184 343 4.27e-90 SMART
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: ENSMUST00000138498
Predicted Effect noncoding transcript
Transcript: ENSMUST00000141763
Predicted Effect probably damaging
Transcript: ENSMUST00000156440
AA Change: D374G

PolyPhen 2 Score 0.990 (Sensitivity: 0.72; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000117725
Gene: ENSMUSG00000032078
AA Change: D374G

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 noncoding transcript
Transcript: ENSMUST00000143511
Meta Mutation Damage Score 0.9345 question?
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 97.2%
  • 10x: 88.5%
  • 20x: 63.6%
Validation Efficiency 94% (159/169)
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: 74 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam5 T C 8: 25,271,703 (GRCm39) D485G probably damaging Het
Adamts19 T C 18: 59,036,137 (GRCm39) probably null Het
Adgrd1 A T 5: 129,255,146 (GRCm39) I598F probably damaging Het
Adh5 A G 3: 138,157,174 (GRCm39) D245G probably benign Het
Adra2b T C 2: 127,206,212 (GRCm39) V238A probably benign Het
Ank1 G A 8: 23,606,258 (GRCm39) V1188I possibly damaging Het
Asap1 C T 15: 63,971,413 (GRCm39) G905D probably damaging Het
AW554918 T C 18: 25,477,959 (GRCm39) V428A probably benign Het
Birc6 T A 17: 74,950,436 (GRCm39) S3226T probably benign Het
Cdh17 A T 4: 11,785,280 (GRCm39) probably benign Het
Cyfip2 A T 11: 46,144,825 (GRCm39) Y676* probably null Het
Dcaf17 T A 2: 70,908,812 (GRCm39) probably benign Het
Dclre1a A G 19: 56,531,139 (GRCm39) F736L probably damaging Het
Ddx41 A T 13: 55,683,193 (GRCm39) H171Q possibly damaging Het
Dennd5b G T 6: 148,895,257 (GRCm39) Q1258K probably benign Het
Dock10 T C 1: 80,584,295 (GRCm39) D137G probably damaging Het
Dpyd G A 3: 118,737,904 (GRCm39) V482I probably benign Het
Erich6 A T 3: 58,543,547 (GRCm39) probably benign Het
Fam193b A G 13: 55,702,024 (GRCm39) probably benign Het
Foxp2 T C 6: 15,405,643 (GRCm39) probably benign Het
Frmd4a T C 2: 4,577,252 (GRCm39) probably null Het
Gas2l2 A G 11: 83,313,693 (GRCm39) S540P possibly damaging Het
Glis2 T C 16: 4,431,517 (GRCm39) V348A probably benign Het
Gm14443 C A 2: 175,011,729 (GRCm39) G239V probably damaging Het
Gpr158 T C 2: 21,831,528 (GRCm39) V876A probably damaging Het
H1f8 A G 6: 115,926,942 (GRCm39) E273G probably benign Het
Hadh C T 3: 131,029,285 (GRCm39) D245N probably damaging Het
Hk2 A T 6: 82,711,957 (GRCm39) probably benign Het
Ice1 A T 13: 70,767,163 (GRCm39) Y108* probably null Het
Il10ra T G 9: 45,167,247 (GRCm39) M435L probably benign Het
Inpp5k GT G 11: 75,521,973 (GRCm39) probably null Het
Kank4 G T 4: 98,666,567 (GRCm39) P627T probably benign Het
Kif16b A G 2: 142,549,346 (GRCm39) probably benign Het
Lipn A G 19: 34,054,376 (GRCm39) I205V probably benign Het
Miox C T 15: 89,220,477 (GRCm39) L189F possibly damaging Het
Myh1 T C 11: 67,106,683 (GRCm39) M1255T probably benign Het
Myl3 A C 9: 110,596,997 (GRCm39) D119A probably damaging Het
Myo1d T G 11: 80,448,349 (GRCm39) K925N probably benign Het
Myoz1 T A 14: 20,699,622 (GRCm39) M239L probably benign Het
Ncoa6 TGC TGCGC 2: 155,250,211 (GRCm39) probably null Het
Nf1 C A 11: 79,344,805 (GRCm39) probably benign Het
Npepl1 C T 2: 173,957,879 (GRCm39) P239S probably damaging Het
Olfml1 A G 7: 107,170,506 (GRCm39) K131R probably benign Het
Or12k5 G A 2: 36,895,462 (GRCm39) L55F probably damaging Het
Or1e29 A G 11: 73,667,935 (GRCm39) F73L possibly damaging Het
Or1j15 T A 2: 36,458,893 (GRCm39) Y94* probably null Het
Or1j20 T C 2: 36,760,022 (GRCm39) L148S possibly damaging Het
Or4c10 T A 2: 89,760,423 (GRCm39) I90K possibly damaging Het
Or4f7 A C 2: 111,644,213 (GRCm39) I286S probably damaging Het
Or5p52 C T 7: 107,502,212 (GRCm39) T96I probably benign Het
Or6c202 C T 10: 128,996,707 (GRCm39) D49N possibly damaging Het
Pde7a T C 3: 19,295,697 (GRCm39) probably benign Het
Pik3c2g T C 6: 139,903,519 (GRCm39) C591R probably benign Het
Pkn2 T G 3: 142,559,343 (GRCm39) K61Q probably damaging Het
Ppfia1 C A 7: 144,058,711 (GRCm39) G722C probably damaging Het
Ppp1cb T C 5: 32,644,958 (GRCm39) V263A probably damaging Het
Rab11fip2 A T 19: 59,895,567 (GRCm39) N440K possibly damaging Het
Rbm34 T A 8: 127,676,234 (GRCm39) K340N probably damaging Het
Samd3 T C 10: 26,147,399 (GRCm39) probably benign Het
Sfi1 TCGC TC 11: 3,096,254 (GRCm39) probably null Het
Sigirr T C 7: 140,671,285 (GRCm39) D399G probably damaging Het
Slc17a7 A G 7: 44,824,371 (GRCm39) E554G probably benign Het
Smc3 A G 19: 53,589,993 (GRCm39) probably benign Het
Tdrd1 T C 19: 56,819,703 (GRCm39) Y68H probably benign Het
Tespa1 T A 10: 130,196,719 (GRCm39) L219Q probably damaging Het
Tmem144 G A 3: 79,746,580 (GRCm39) probably benign Het
Ttc38 A G 15: 85,740,673 (GRCm39) S436G probably benign Het
Ttn T A 2: 76,581,423 (GRCm39) I23157F probably damaging Het
Ubxn2b T A 4: 6,203,875 (GRCm39) probably benign Het
Vmn1r28 G A 6: 58,242,702 (GRCm39) A182T probably benign Het
Vmn2r72 T C 7: 85,401,044 (GRCm39) E125G probably benign Het
Vmn2r78 A T 7: 86,572,235 (GRCm39) D532V probably benign Het
Vwa8 C A 14: 79,320,222 (GRCm39) L1078I probably benign Het
Vwce A T 19: 10,641,453 (GRCm39) probably null 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
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
R6948:Zpr1 UTSW 9 46,184,939 (GRCm39) critical splice donor site probably null
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'- CAGTTTCCTTCTTGGCAAAGCAGTC -3'
(R):5'- ACTTGGGAGTCCCACTATCACCAC -3'

Sequencing Primer
(F):5'- CTTGGCAAAGCAGTCTCATAG -3'
(R):5'- CCCTCGATGATCTACAGGAGAG -3'
Posted On 2013-04-11