Incidental Mutation 'IGL02897:Inpp5j'
ID 363429
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Inpp5j
Ensembl Gene ENSMUSG00000034570
Gene Name inositol polyphosphate 5-phosphatase J
Synonyms Pipp, Pib5pa
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.495) question?
Stock # IGL02897
Quality Score
Status
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 3450619 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 578 (L578P)
Ref Sequence ENSEMBL: ENSMUSP00000139302 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]
AlphaFold P59644
Predicted Effect possibly damaging
Transcript: ENSMUST00000044507
AA Change: L578P

PolyPhen 2 Score 0.880 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: L578P

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
low complexity region 180 216 N/A INTRINSIC
low complexity region 292 311 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 390 413 N/A INTRINSIC
IPPc 418 733 4.41e-98 SMART
low complexity region 840 862 N/A INTRINSIC
low complexity region 868 887 N/A INTRINSIC
low complexity region 898 919 N/A INTRINSIC
low complexity region 924 943 N/A INTRINSIC
low complexity region 992 1002 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000044682
SMART Domains Protein: ENSMUSP00000041571
Gene: ENSMUSG00000034579

DomainStartEndE-ValueType
signal peptide 1 19 N/A INTRINSIC
PA2c 139 259 1.58e-2 SMART
low complexity region 305 324 N/A INTRINSIC
Pfam:Phospholip_A2_2 343 431 4e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000110018
SMART Domains Protein: ENSMUSP00000105645
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
IPPc 2 301 4e-86 SMART
low complexity region 408 430 N/A INTRINSIC
low complexity region 436 455 N/A INTRINSIC
low complexity region 466 487 N/A INTRINSIC
low complexity region 492 511 N/A INTRINSIC
low complexity region 560 570 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000110019
SMART Domains Protein: ENSMUSP00000105646
Gene: ENSMUSG00000034570

DomainStartEndE-ValueType
IPPc 2 301 4e-86 SMART
low complexity region 408 430 N/A INTRINSIC
low complexity region 436 455 N/A INTRINSIC
low complexity region 466 487 N/A INTRINSIC
low complexity region 492 511 N/A INTRINSIC
low complexity region 560 570 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000148939
AA Change: L206P
Predicted Effect probably damaging
Transcript: ENSMUST00000154756
AA Change: L578P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: L578P

DomainStartEndE-ValueType
low complexity region 11 24 N/A INTRINSIC
low complexity region 115 131 N/A INTRINSIC
low complexity region 144 155 N/A INTRINSIC
low complexity region 180 216 N/A INTRINSIC
low complexity region 292 311 N/A INTRINSIC
low complexity region 333 365 N/A INTRINSIC
low complexity region 390 413 N/A INTRINSIC
IPPc 418 733 4.41e-98 SMART
low complexity region 870 880 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000183684
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele are viable, fertile, and show normal mammary gland development and no spontaneous mammary tumors. However, in an oncogene-driven breast cancer mouse model, mice show increased mammary hyperplasia and tumor growth paradoxically associated with reduced lung metastases. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700093K21Rik T A 11: 23,467,308 (GRCm39) E108D probably benign Het
Abca7 T C 10: 79,837,426 (GRCm39) F437L probably damaging Het
Abi2 T C 1: 60,487,353 (GRCm39) V134A probably damaging Het
Ablim2 T C 5: 35,990,470 (GRCm39) I75T probably damaging Het
Aldh1a3 A G 7: 66,077,075 (GRCm39) V29A probably benign Het
Bptf T C 11: 106,937,947 (GRCm39) K2715E probably damaging Het
Cd163 A T 6: 124,302,486 (GRCm39) S1017C probably damaging Het
Cdc14b T C 13: 64,395,067 (GRCm39) I76V probably benign Het
Cers6 T A 2: 68,764,877 (GRCm39) C63* probably null Het
Chd9 T C 8: 91,660,496 (GRCm39) probably benign Het
Col19a1 T C 1: 24,573,179 (GRCm39) N198D unknown Het
Cse1l T C 2: 166,761,628 (GRCm39) C61R possibly damaging Het
Cubn T C 2: 13,323,123 (GRCm39) T2815A possibly damaging Het
Cyp19a1 G T 9: 54,074,195 (GRCm39) T453K possibly damaging Het
Dlg1 G T 16: 31,590,674 (GRCm39) probably null Het
Dpp7 T C 2: 25,243,684 (GRCm39) Y339C probably damaging Het
Dtl T C 1: 191,273,656 (GRCm39) probably benign Het
Gm5591 T C 7: 38,219,466 (GRCm39) E469G probably damaging Het
Ing3 T A 6: 21,969,325 (GRCm39) V202E probably benign Het
Irak4 A G 15: 94,451,872 (GRCm39) N155S probably benign Het
Kif2b A T 11: 91,467,045 (GRCm39) S413T probably damaging Het
L3mbtl1 A T 2: 162,807,692 (GRCm39) Y490F probably damaging Het
Med17 T G 9: 15,178,830 (GRCm39) D447A probably damaging Het
Med26 T C 8: 73,250,365 (GRCm39) T245A probably benign Het
Nlrc3 A T 16: 3,781,938 (GRCm39) S490R possibly damaging Het
Nme5 A G 18: 34,702,956 (GRCm39) probably benign Het
Or51aa5 T C 7: 103,167,337 (GRCm39) R85G probably benign Het
Rnf10 G T 5: 115,386,700 (GRCm39) Q530K probably benign Het
Robo3 A T 9: 37,338,798 (GRCm39) Y281* probably null Het
Sclt1 T C 3: 41,629,822 (GRCm39) I330V probably benign Het
Smim14 A T 5: 65,607,739 (GRCm39) probably benign Het
Trank1 T G 9: 111,196,585 (GRCm39) H1536Q probably damaging Het
Tspan18 A G 2: 93,050,518 (GRCm39) L35P possibly damaging Het
Ubr4 G A 4: 139,199,819 (GRCm39) V4568M probably damaging Het
Vmn1r63 A G 7: 5,805,744 (GRCm39) V296A possibly damaging Het
Other mutations in Inpp5j
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00231:Inpp5j APN 11 3,450,009 (GRCm39) splice site probably benign
IGL00435:Inpp5j APN 11 3,452,255 (GRCm39) missense probably benign 0.00
IGL00509:Inpp5j APN 11 3,451,595 (GRCm39) missense possibly damaging 0.94
IGL00916:Inpp5j APN 11 3,452,389 (GRCm39) missense probably damaging 1.00
IGL00975:Inpp5j APN 11 3,452,176 (GRCm39) missense probably damaging 1.00
IGL01523:Inpp5j APN 11 3,445,932 (GRCm39) splice site probably null
IGL02472:Inpp5j APN 11 3,445,338 (GRCm39) unclassified probably benign
IGL02512:Inpp5j APN 11 3,449,661 (GRCm39) missense probably damaging 1.00
IGL03408:Inpp5j APN 11 3,452,809 (GRCm39) missense possibly damaging 0.95
R0048:Inpp5j UTSW 11 3,451,417 (GRCm39) missense probably damaging 0.97
R0440:Inpp5j UTSW 11 3,451,150 (GRCm39) missense possibly damaging 0.95
R0455:Inpp5j UTSW 11 3,453,122 (GRCm39) missense possibly damaging 0.66
R0483:Inpp5j UTSW 11 3,449,738 (GRCm39) missense probably damaging 1.00
R0554:Inpp5j UTSW 11 3,449,644 (GRCm39) missense probably damaging 1.00
R0639:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.29
R0673:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.29
R0926:Inpp5j UTSW 11 3,451,439 (GRCm39) splice site probably benign
R1114:Inpp5j UTSW 11 3,444,814 (GRCm39) missense possibly damaging 0.57
R1132:Inpp5j UTSW 11 3,452,305 (GRCm39) missense possibly damaging 0.90
R1463:Inpp5j UTSW 11 3,451,147 (GRCm39) missense probably benign 0.03
R1757:Inpp5j UTSW 11 3,454,738 (GRCm39) missense possibly damaging 0.49
R1978:Inpp5j UTSW 11 3,452,150 (GRCm39) missense probably damaging 1.00
R3078:Inpp5j UTSW 11 3,453,124 (GRCm39) splice site probably null
R3831:Inpp5j UTSW 11 3,450,229 (GRCm39) missense probably damaging 1.00
R4012:Inpp5j UTSW 11 3,450,185 (GRCm39) missense probably benign 0.06
R4183:Inpp5j UTSW 11 3,451,134 (GRCm39) missense probably damaging 0.99
R4209:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4210:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4211:Inpp5j UTSW 11 3,451,107 (GRCm39) missense probably damaging 1.00
R4477:Inpp5j UTSW 11 3,451,625 (GRCm39) missense probably damaging 1.00
R4729:Inpp5j UTSW 11 3,445,025 (GRCm39) missense probably damaging 0.99
R4840:Inpp5j UTSW 11 3,449,676 (GRCm39) missense probably damaging 1.00
R5025:Inpp5j UTSW 11 3,450,664 (GRCm39) missense probably damaging 1.00
R5151:Inpp5j UTSW 11 3,452,270 (GRCm39) missense probably damaging 1.00
R5195:Inpp5j UTSW 11 3,449,889 (GRCm39) critical splice donor site probably null
R5623:Inpp5j UTSW 11 3,444,766 (GRCm39) missense probably damaging 0.96
R6262:Inpp5j UTSW 11 3,452,615 (GRCm39) missense probably benign 0.02
R6448:Inpp5j UTSW 11 3,445,387 (GRCm39) missense probably damaging 0.99
R6465:Inpp5j UTSW 11 3,452,293 (GRCm39) missense possibly damaging 0.84
R6723:Inpp5j UTSW 11 3,450,640 (GRCm39) missense probably damaging 0.99
R6895:Inpp5j UTSW 11 3,445,557 (GRCm39) splice site probably null
R7060:Inpp5j UTSW 11 3,450,133 (GRCm39) splice site probably null
R7346:Inpp5j UTSW 11 3,451,065 (GRCm39) missense probably damaging 1.00
R8026:Inpp5j UTSW 11 3,445,171 (GRCm39) missense
R8360:Inpp5j UTSW 11 3,449,767 (GRCm39) missense probably damaging 0.99
R9706:Inpp5j UTSW 11 3,449,960 (GRCm39) missense possibly damaging 0.95
T0975:Inpp5j UTSW 11 3,452,527 (GRCm39) missense possibly damaging 0.69
Z1176:Inpp5j UTSW 11 3,452,484 (GRCm39) nonsense probably null
Z1177:Inpp5j UTSW 11 3,452,191 (GRCm39) missense probably damaging 1.00
Posted On 2015-12-18