Incidental Mutation 'IGL02472:Inpp5j'
ID 294797
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 # IGL02472
Quality Score
Status
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation unclassified
DNA Base Change (assembly) T to C at 3445338 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000139000 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000044507] [ENSMUST00000044682] [ENSMUST00000064265] [ENSMUST00000110018] [ENSMUST00000110019] [ENSMUST00000154756] [ENSMUST00000183684]
AlphaFold P59644
Predicted Effect probably benign
Transcript: ENSMUST00000044507
SMART Domains Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570

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: ENSMUST00000064265
SMART Domains Protein: ENSMUSP00000068699
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_2 343 426 5.1e-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 probably benign
Transcript: ENSMUST00000148939
Predicted Effect probably benign
Transcript: ENSMUST00000154756
SMART Domains Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570

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 noncoding transcript
Transcript: ENSMUST00000151860
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik A G 15: 76,834,578 (GRCm39) N158S probably damaging Het
Ankrd17 A C 5: 90,412,010 (GRCm39) L1285V probably damaging Het
Atp8b2 G A 3: 89,861,546 (GRCm39) T267I probably damaging Het
Becn1 C T 11: 101,182,224 (GRCm39) G115D probably benign Het
Cdc45 C T 16: 18,617,479 (GRCm39) M200I probably benign Het
Chd6 A C 2: 160,826,372 (GRCm39) probably benign Het
Col22a1 A G 15: 71,699,602 (GRCm39) probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dnm2 A G 9: 21,397,004 (GRCm39) I494V possibly damaging Het
Dock2 T A 11: 34,199,801 (GRCm39) E1416D probably benign Het
Eif2ak1 A G 5: 143,821,701 (GRCm39) H339R probably benign Het
Espnl C T 1: 91,268,256 (GRCm39) P294L probably benign Het
Ftmt T A 18: 52,464,912 (GRCm39) I76N possibly damaging Het
Gorasp2 T G 2: 70,506,803 (GRCm39) probably benign Het
Hadhb T A 5: 30,389,061 (GRCm39) M468K possibly damaging Het
Hfm1 A G 5: 107,021,794 (GRCm39) probably benign Het
Ipo7 T A 7: 109,640,060 (GRCm39) F288I probably damaging Het
Kcnv1 T A 15: 44,972,519 (GRCm39) K455* probably null Het
Kdm5a A G 6: 120,383,691 (GRCm39) probably benign Het
Kmt2d G A 15: 98,747,958 (GRCm39) S3122F probably benign Het
Kndc1 A G 7: 139,490,817 (GRCm39) I440V probably benign Het
Mib2 T A 4: 155,741,203 (GRCm39) I545F probably damaging Het
Nav2 C T 7: 49,195,789 (GRCm39) P1055L probably damaging Het
Or4c10b T A 2: 89,711,755 (GRCm39) I195N probably benign Het
Or5v1b C A 17: 37,841,640 (GRCm39) F257L probably damaging Het
Plch1 A T 3: 63,609,270 (GRCm39) L65Q probably damaging Het
Polr1g T C 7: 19,093,030 (GRCm39) D50G probably damaging Het
Ppp3ca A G 3: 136,627,623 (GRCm39) I396V possibly damaging Het
Ryr1 A T 7: 28,740,269 (GRCm39) N3917K probably damaging Het
Scn7a T C 2: 66,582,658 (GRCm39) T80A probably damaging Het
Sema3f C T 9: 107,564,935 (GRCm39) E307K probably damaging Het
Serpinb9b A T 13: 33,223,953 (GRCm39) probably benign Het
Siglec15 T A 18: 78,086,832 (GRCm39) K342N possibly damaging Het
Slc2a12 T C 10: 22,541,054 (GRCm39) F303S probably damaging Het
Slc9c1 T C 16: 45,400,505 (GRCm39) V705A probably benign Het
Tenm4 T C 7: 96,423,383 (GRCm39) probably benign Het
Tm6sf1 A T 7: 81,525,572 (GRCm39) probably benign Het
Tmem245 T C 4: 56,899,119 (GRCm39) Y269C probably damaging Het
Txndc2 A G 17: 65,944,971 (GRCm39) I402T possibly damaging Het
Ube4b A G 4: 149,471,536 (GRCm39) probably null Het
Usp28 T A 9: 48,949,069 (GRCm39) Y863N possibly damaging Het
Vmn2r69 T C 7: 85,058,960 (GRCm39) I534V probably benign Het
Wdr89 A T 12: 75,679,743 (GRCm39) D170E probably damaging Het
Zfp280d C A 9: 72,208,993 (GRCm39) N74K probably damaging Het
Zfp518a G A 19: 40,903,061 (GRCm39) G997R probably 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
IGL02512:Inpp5j APN 11 3,449,661 (GRCm39) missense probably damaging 1.00
IGL02897:Inpp5j APN 11 3,450,619 (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 2015-04-16