Incidental Mutation 'R0669:Ipp'
ID 62126
Institutional Source Beutler Lab
Gene Symbol Ipp
Ensembl Gene ENSMUSG00000028696
Gene Name IAP promoted placental gene
Synonyms D4Jhu8, Mipp
MMRRC Submission 038854-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0669 (G1)
Quality Score 114
Status Validated
Chromosome 4
Chromosomal Location 116364746-116395440 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 116395073 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Cysteine at position 536 (Y536C)
Ref Sequence ENSEMBL: ENSMUSP00000102088 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000030461] [ENSMUST00000106479]
AlphaFold P28575
Predicted Effect probably damaging
Transcript: ENSMUST00000030461
AA Change: Y536C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000030461
Gene: ENSMUSG00000028696
AA Change: Y536C

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 probably damaging
Transcript: ENSMUST00000106479
AA Change: Y536C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000102088
Gene: ENSMUSG00000028696
AA Change: Y536C

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
Meta Mutation Damage Score 0.8852 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 95.8%
Validation Efficiency 99% (80/81)
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: 73 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933427D14Rik T A 11: 72,089,671 (GRCm39) H71L possibly damaging Het
Abcb11 C A 2: 69,159,662 (GRCm39) V10L probably benign Het
Abcb9 T C 5: 124,200,950 (GRCm39) T689A probably damaging Het
Adam22 A G 5: 8,193,036 (GRCm39) probably benign Het
Adamts5 A G 16: 85,696,614 (GRCm39) I181T probably benign Het
Adamts9 A T 6: 92,857,938 (GRCm39) V231D probably damaging Het
Angptl6 C T 9: 20,787,823 (GRCm39) V197M probably damaging Het
Atp6v1c1 T C 15: 38,677,772 (GRCm39) V99A probably benign Het
Cacna2d3 A G 14: 29,189,906 (GRCm39) V110A probably benign Het
Ccdc32 A G 2: 118,849,648 (GRCm39) probably benign Het
Cela3b T C 4: 137,155,841 (GRCm39) H22R probably benign Het
Cep44 T C 8: 56,994,008 (GRCm39) T190A possibly damaging Het
Chsy1 T C 7: 65,821,435 (GRCm39) C557R probably damaging Het
Cntd1 A G 11: 101,178,324 (GRCm39) T308A probably damaging Het
Cutal T C 2: 34,775,878 (GRCm39) probably benign Het
Dipk1b A G 2: 26,524,878 (GRCm39) T93A probably benign Het
Dna2 A G 10: 62,792,768 (GRCm39) D261G probably damaging Het
Dnhd1 T A 7: 105,342,911 (GRCm39) S1418R probably benign Het
Dnpep A G 1: 75,288,422 (GRCm39) probably benign Het
Dock7 A T 4: 98,875,716 (GRCm39) Y1075N probably benign Het
Eif2s1 C T 12: 78,928,012 (GRCm39) probably benign Het
Ess2 T C 16: 17,725,419 (GRCm39) Y221C probably damaging Het
Fer1l6 T C 15: 58,425,573 (GRCm39) probably null Het
Gm5592 T C 7: 40,805,254 (GRCm39) probably benign Het
Krt72 T C 15: 101,686,740 (GRCm39) E402G probably damaging Het
Lamb3 T C 1: 193,014,638 (GRCm39) L599P probably damaging Het
Lingo2 T A 4: 35,709,120 (GRCm39) T287S probably benign Het
Lipo3 T A 19: 33,537,025 (GRCm39) T232S probably benign Het
Lrrc63 G A 14: 75,363,550 (GRCm39) H194Y probably benign Het
Map3k13 A G 16: 21,725,274 (GRCm39) T416A probably benign Het
Mcm3 A T 1: 20,875,153 (GRCm39) probably null Het
Mms22l T C 4: 24,517,223 (GRCm39) V258A probably benign Het
Mrpl46 A T 7: 78,432,631 (GRCm39) L49* probably null Het
Mrs2 T C 13: 25,177,742 (GRCm39) T369A possibly damaging Het
Mtrf1 T A 14: 79,656,708 (GRCm39) Y403* probably null Het
Muc20 G A 16: 32,614,850 (GRCm39) P176S unknown Het
Mup21 C T 4: 62,068,964 (GRCm39) C9Y unknown Het
Mup-ps21 A T 4: 61,949,007 (GRCm39) noncoding transcript Het
Mybph T G 1: 134,125,081 (GRCm39) probably null Het
Mypn A G 10: 62,970,702 (GRCm39) probably benign Het
Nav2 T C 7: 49,058,431 (GRCm39) S124P probably damaging Het
Nrros T C 16: 31,962,241 (GRCm39) D556G probably damaging Het
Numa1 A C 7: 101,648,884 (GRCm39) I872L probably benign Het
Or14c40 A G 7: 86,313,544 (GRCm39) I225V possibly damaging Het
Or2a7 C T 6: 43,150,938 (GRCm39) T6I probably benign Het
Or2h2c G C 17: 37,422,347 (GRCm39) L176V probably benign Het
Or4c11 A T 2: 88,695,272 (GRCm39) M108L probably benign Het
Or5p52 T A 7: 107,502,446 (GRCm39) I174K probably damaging Het
Pcdhb9 A T 18: 37,535,308 (GRCm39) N434I probably damaging Het
Pigq A T 17: 26,155,736 (GRCm39) probably null Het
Plxna2 T G 1: 194,471,145 (GRCm39) V972G probably damaging Het
Psma3 G A 12: 71,035,269 (GRCm39) probably benign Het
Ptpn13 A G 5: 103,703,975 (GRCm39) T1336A probably benign Het
Rdh7 T C 10: 127,720,598 (GRCm39) D258G probably benign Het
Serpinb6c A G 13: 34,083,252 (GRCm39) I54T probably damaging Het
Sh2d7 A T 9: 54,448,633 (GRCm39) Y218F probably benign Het
Shfl AGAGGAGGAGGAGGAGGAGGAGGAGGA AGAGGAGGAGGAGGAGGAGGAGGA 9: 20,785,013 (GRCm39) probably benign Het
Slc12a8 A T 16: 33,371,274 (GRCm39) I137F possibly damaging Het
Smarca2 T C 19: 26,683,600 (GRCm39) V1153A possibly damaging Het
Smc6 A T 12: 11,339,165 (GRCm39) I334L probably benign Het
Sorcs1 A G 19: 50,230,380 (GRCm39) probably benign Het
Taar8c A G 10: 23,977,401 (GRCm39) L137P probably damaging Het
Tcam1 A T 11: 106,176,252 (GRCm39) D326V possibly damaging Het
Telo2 A T 17: 25,324,797 (GRCm39) V461D probably benign Het
Tmprss7 A T 16: 45,498,325 (GRCm39) C351* probably null Het
Trim66 T A 7: 109,054,199 (GRCm39) probably benign Het
Ube2d1 G T 10: 71,097,940 (GRCm39) H32N probably benign Het
Ubp1 T C 9: 113,793,736 (GRCm39) probably benign Het
Vma21 C T X: 70,863,763 (GRCm39) T81M probably damaging Het
Vmn1r113 T C 7: 20,521,345 (GRCm39) S46P probably benign Het
Wars1 T C 12: 108,831,944 (GRCm39) S374G probably benign Het
Wbp1 T C 6: 83,096,326 (GRCm39) D277G possibly damaging Het
Zfp939 C A 7: 39,123,209 (GRCm39) noncoding transcript Het
Other mutations in Ipp
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00941:Ipp APN 4 116,389,856 (GRCm39) missense possibly damaging 0.93
IGL01399:Ipp APN 4 116,372,384 (GRCm39) missense probably damaging 1.00
IGL01934:Ipp APN 4 116,367,852 (GRCm39) missense probably damaging 0.99
IGL02805:Ipp APN 4 116,386,885 (GRCm39) missense possibly damaging 0.92
Iguacu UTSW 4 116,395,135 (GRCm39) nonsense probably null
R0582:Ipp UTSW 4 116,372,664 (GRCm39) missense probably damaging 1.00
R1121:Ipp UTSW 4 116,377,872 (GRCm39) missense probably benign 0.00
R1394:Ipp UTSW 4 116,395,109 (GRCm39) nonsense probably null
R1738:Ipp UTSW 4 116,387,618 (GRCm39) missense probably benign 0.00
R2021:Ipp UTSW 4 116,372,565 (GRCm39) missense probably benign 0.26
R3103:Ipp UTSW 4 116,381,446 (GRCm39) missense possibly damaging 0.65
R4372:Ipp UTSW 4 116,372,560 (GRCm39) missense possibly damaging 0.90
R4439:Ipp UTSW 4 116,372,274 (GRCm39) missense probably benign 0.00
R4571:Ipp UTSW 4 116,387,655 (GRCm39) missense probably damaging 1.00
R5134:Ipp UTSW 4 116,372,654 (GRCm39) missense possibly damaging 0.65
R5503:Ipp UTSW 4 116,395,135 (GRCm39) nonsense probably null
R5519:Ipp UTSW 4 116,367,964 (GRCm39) missense possibly damaging 0.76
R5640:Ipp UTSW 4 116,377,886 (GRCm39) missense possibly damaging 0.67
R5768:Ipp UTSW 4 116,367,967 (GRCm39) missense probably damaging 1.00
R6867:Ipp UTSW 4 116,367,606 (GRCm39) splice site probably null
R7575:Ipp UTSW 4 116,389,841 (GRCm39) missense probably benign 0.20
R7851:Ipp UTSW 4 116,372,672 (GRCm39) nonsense probably null
R7992:Ipp UTSW 4 116,381,453 (GRCm39) missense probably damaging 1.00
R8069:Ipp UTSW 4 116,368,053 (GRCm39) missense probably benign 0.11
Z1176:Ipp UTSW 4 116,395,082 (GRCm39) missense probably null 1.00
Predicted Primers PCR Primer
(F):5'- AGACTCAATGTTTTGCCATACCTACCC -3'
(R):5'- GCCTTCTCTGTCACAGTACAGCAAC -3'

Sequencing Primer
(F):5'- cgggaggcagagacagg -3'
(R):5'- GTACAGCAACACCCCCTTC -3'
Posted On 2013-07-30