Incidental Mutation 'IGL00588:Prox1'
ID13180
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Prox1
Ensembl Gene ENSMUSG00000010175
Gene Nameprospero homeobox 1
SynonymsA230003G05Rik
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL00588
Quality Score
Status
Chromosome1
Chromosomal Location190118035-190170714 bp(-) (GRCm38)
Type of Mutationsplice site
DNA Base Change (assembly) T to C at 190123410 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000135066 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000010319] [ENSMUST00000175916] [ENSMUST00000177288]
Predicted Effect probably benign
Transcript: ENSMUST00000010319
SMART Domains Protein: ENSMUSP00000010319
Gene: ENSMUSG00000010175

DomainStartEndE-ValueType
low complexity region 208 223 N/A INTRINSIC
SCOP:d1fxkc_ 227 363 9e-5 SMART
low complexity region 514 526 N/A INTRINSIC
low complexity region 529 545 N/A INTRINSIC
Pfam:HPD 578 735 8.9e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000175916
SMART Domains Protein: ENSMUSP00000135703
Gene: ENSMUSG00000010175

DomainStartEndE-ValueType
low complexity region 208 223 N/A INTRINSIC
SCOP:d1fxkc_ 227 363 9e-5 SMART
low complexity region 514 526 N/A INTRINSIC
low complexity region 529 545 N/A INTRINSIC
Pfam:HPD 578 735 8.9e-91 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000177288
SMART Domains Protein: ENSMUSP00000135066
Gene: ENSMUSG00000010175

DomainStartEndE-ValueType
low complexity region 208 223 N/A INTRINSIC
SCOP:d1fxkc_ 227 363 9e-5 SMART
low complexity region 514 526 N/A INTRINSIC
low complexity region 529 545 N/A INTRINSIC
Pfam:HPD 579 732 2.2e-86 PFAM
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 a member of the homeobox transcription factor family. Members of this family contain a homeobox domain that consists of a 60-amino acid helix-turn-helix structure that binds DNA and RNA. The protein encoded by this gene is conserved across vertebrates and may play an essential role during development. Altered levels of this protein have been reported in cancers of different organs, such as colon, brain, blood, breast, pancreas, liver and esophagus. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Jul 2012]
PHENOTYPE: Homozygous mutation of this gene results in embryonic lethality with impaired development of the lens, lymphatic system, liver and pancreas. Heterozygous mutation results in early postnatal lethality with varying penetrance on different genetic backgrounds, obesity and lymphatic vessel abnormalities [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arrdc5 G A 17: 56,294,262 P288S probably damaging Het
Cd1d1 T C 3: 86,998,173 D171G probably damaging Het
Cd96 T C 16: 46,038,554 N530S probably benign Het
Csn1s1 A G 5: 87,667,259 I5V probably benign Het
Fam120b T A 17: 15,402,595 Y278* probably null Het
Fam160a1 G A 3: 85,672,618 T760M probably benign Het
Fam186a T C 15: 99,927,691 probably benign Het
Fam214a A G 9: 75,009,581 I487M probably damaging Het
Gimap6 T C 6: 48,702,421 K227R possibly damaging Het
Gli3 A T 13: 15,644,392 T260S possibly damaging Het
Gm12888 A T 4: 121,319,445 M53K possibly damaging Het
Klhl9 C T 4: 88,720,819 S395N probably damaging Het
Lpp T C 16: 24,845,188 M280T probably damaging Het
Ly96 A G 1: 16,706,228 probably null Het
Mamdc2 T A 19: 23,353,316 T376S possibly damaging Het
Man2b1 C A 8: 85,084,638 probably null Het
Ndufs8 G A 19: 3,911,740 R3C probably benign Het
Prrx1 T C 1: 163,261,967 N97S probably damaging Het
Rfx3 G A 19: 27,826,076 Q270* probably null Het
Serpinb1c T C 13: 32,883,975 K213E probably damaging Het
Slc1a2 A G 2: 102,756,001 I317V probably benign Het
Smim15 T C 13: 108,047,529 L23P probably damaging Het
Tcea3 A T 4: 136,273,692 N338Y probably damaging Het
Ttn A T 2: 76,827,727 probably benign Het
Zfp61 T A 7: 24,291,095 I544F probably benign Het
Zfp954 C T 7: 7,115,367 A393T probably benign Het
Other mutations in Prox1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01729:Prox1 APN 1 190161175 missense probably benign
IGL02167:Prox1 APN 1 190161280 missense probably benign 0.13
IGL02416:Prox1 APN 1 190161130 missense probably benign 0.00
IGL02419:Prox1 APN 1 190161130 missense probably benign 0.00
IGL03234:Prox1 APN 1 190161636 missense probably damaging 1.00
R0069:Prox1 UTSW 1 190160919 missense possibly damaging 0.85
R0514:Prox1 UTSW 1 190161456 missense probably damaging 0.99
R1249:Prox1 UTSW 1 190147061 missense possibly damaging 0.94
R1299:Prox1 UTSW 1 190146943 splice site probably benign
R1601:Prox1 UTSW 1 190161006 missense probably damaging 0.99
R1893:Prox1 UTSW 1 190160518 splice site probably benign
R2090:Prox1 UTSW 1 190160812 missense probably damaging 0.99
R2366:Prox1 UTSW 1 190161882 missense probably damaging 0.96
R4614:Prox1 UTSW 1 190162008 missense probably damaging 0.99
R4799:Prox1 UTSW 1 190153472 missense probably damaging 0.98
R4873:Prox1 UTSW 1 190162122 missense probably damaging 0.99
R4875:Prox1 UTSW 1 190162122 missense probably damaging 0.99
R5124:Prox1 UTSW 1 190161279 missense possibly damaging 0.73
R5149:Prox1 UTSW 1 190147053 missense possibly damaging 0.89
R5256:Prox1 UTSW 1 190161441 missense probably benign 0.02
R5545:Prox1 UTSW 1 190147142 missense probably damaging 1.00
R5985:Prox1 UTSW 1 190146955 missense possibly damaging 0.93
R5993:Prox1 UTSW 1 190162239 missense probably damaging 1.00
R6833:Prox1 UTSW 1 190160778 missense probably damaging 0.99
R7335:Prox1 UTSW 1 190161845 missense possibly damaging 0.93
R7385:Prox1 UTSW 1 190162126 missense probably benign
R7572:Prox1 UTSW 1 190123386 missense probably benign 0.10
R7608:Prox1 UTSW 1 190153445 missense probably benign 0.24
R7655:Prox1 UTSW 1 190162221 missense probably damaging 0.99
R7656:Prox1 UTSW 1 190162221 missense probably damaging 0.99
R8070:Prox1 UTSW 1 190160910 missense not run
Z1088:Prox1 UTSW 1 190161999 missense probably damaging 0.96
Posted On2012-12-06