Incidental Mutation 'IGL00941:Ipp'
ID27272
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ipp
Ensembl Gene ENSMUSG00000028696
Gene NameIAP promoted placental gene
SynonymsD4Jhu8, Mipp
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00941
Quality Score
Status
Chromosome4
Chromosomal Location116507549-116538243 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 116532659 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Valine at position 471 (M471V)
Ref Sequence ENSEMBL: ENSMUSP00000102088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030461] [ENSMUST00000106479]
Predicted Effect possibly damaging
Transcript: ENSMUST00000030461
AA Change: M471V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: M471V

DomainStartEndE-ValueType
BTB 37 134 5.37e-30 SMART
BACK 139 241 6.59e-29 SMART
Kelch 289 343 3.8e-9 SMART
Kelch 344 390 1.61e-12 SMART
Kelch 391 437 2.9e-14 SMART
Kelch 438 485 1.94e-15 SMART
Kelch 486 533 2.79e-16 SMART
Kelch 534 584 1.67e-5 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000106479
AA Change: M471V

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: M471V

DomainStartEndE-ValueType
BTB 37 134 5.37e-30 SMART
BACK 139 241 6.59e-29 SMART
Kelch 289 343 3.8e-9 SMART
Kelch 344 390 1.61e-12 SMART
Kelch 391 437 2.9e-14 SMART
Kelch 438 485 1.94e-15 SMART
Kelch 486 533 2.79e-16 SMART
Kelch 534 584 1.67e-5 SMART
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 kelch family of proteins, which is characterized by a 50 amino acid repeat which interacts with actin. Transcript variants have been described but their full-length nature has not been determined. [provided by RefSeq, Jul 2008]
Allele List at MGI
Other mutations in this stock
Total: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca17 A C 17: 24,317,130 I521S probably damaging Het
Ace A T 11: 105,979,550 K265I probably benign Het
Acss3 A G 10: 107,053,326 probably null Het
Aldh3a2 A G 11: 61,262,256 Y215H probably damaging Het
Clk2 A G 3: 89,175,422 M393V probably damaging Het
Cyc1 A G 15: 76,345,165 I242V probably benign Het
Evpl G A 11: 116,227,901 L657F probably benign Het
Fbxw10 G A 11: 62,873,501 V675M probably damaging Het
Fgf21 A G 7: 45,615,173 V45A probably damaging Het
Gm5134 T C 10: 76,000,421 I412T possibly damaging Het
Gnat3 T C 5: 18,003,751 probably benign Het
Hk3 C T 13: 55,014,426 probably null Het
Ifna12 A T 4: 88,603,314 probably benign Het
Kcnj1 G A 9: 32,396,498 V73I probably benign Het
Kin G A 2: 10,080,704 R25H probably damaging Het
Kin T C 2: 10,080,706 W26R probably damaging Het
Mical2 T C 7: 112,321,445 probably benign Het
Mllt1 A T 17: 56,895,086 S428R probably damaging Het
Ppm1k T A 6: 57,524,755 H141L probably benign Het
Sept4 G T 11: 87,589,773 C392F probably damaging Het
Slc26a11 T C 11: 119,379,901 F550L probably benign Het
Ssb T A 2: 69,870,835 probably null Het
Stk36 T A 1: 74,623,934 M588K possibly damaging Het
Ubqln4 G A 3: 88,564,501 A415T probably benign Het
Zfp839 C A 12: 110,860,948 S424R probably damaging Het
Zkscan6 G T 11: 65,814,747 G95W probably damaging Het
Other mutations in Ipp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01399:Ipp APN 4 116515187 missense probably damaging 1.00
IGL01934:Ipp APN 4 116510655 missense probably damaging 0.99
IGL02805:Ipp APN 4 116529688 missense possibly damaging 0.92
Iguacu UTSW 4 116537938 nonsense probably null
R0582:Ipp UTSW 4 116515467 missense probably damaging 1.00
R0669:Ipp UTSW 4 116537876 missense probably damaging 1.00
R1121:Ipp UTSW 4 116520675 missense probably benign 0.00
R1394:Ipp UTSW 4 116537912 nonsense probably null
R1738:Ipp UTSW 4 116530421 missense probably benign 0.00
R2021:Ipp UTSW 4 116515368 missense probably benign 0.26
R3103:Ipp UTSW 4 116524249 missense possibly damaging 0.65
R4372:Ipp UTSW 4 116515363 missense possibly damaging 0.90
R4439:Ipp UTSW 4 116515077 missense probably benign 0.00
R4571:Ipp UTSW 4 116530458 missense probably damaging 1.00
R5134:Ipp UTSW 4 116515457 missense possibly damaging 0.65
R5503:Ipp UTSW 4 116537938 nonsense probably null
R5519:Ipp UTSW 4 116510767 missense possibly damaging 0.76
R5640:Ipp UTSW 4 116520689 missense possibly damaging 0.67
R5768:Ipp UTSW 4 116510770 missense probably damaging 1.00
R6867:Ipp UTSW 4 116510409 splice site probably null
R7575:Ipp UTSW 4 116532644 missense probably benign 0.20
R7851:Ipp UTSW 4 116515475 nonsense probably null
R7992:Ipp UTSW 4 116524256 missense probably damaging 1.00
R8069:Ipp UTSW 4 116510856 missense probably benign 0.11
Z1176:Ipp UTSW 4 116537885 missense probably null 1.00
Posted On2013-04-17