Incidental Mutation 'T0975:Inpp5j'
ID 262164
Institutional Source Beutler Lab
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 # T0975 (G3) of strain 714
Quality Score 225
Status Not validated
Chromosome 11
Chromosomal Location 3444375-3454821 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 3452527 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Asparagine at position 241 (T241N)
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: T241N

PolyPhen 2 Score 0.546 (Sensitivity: 0.88; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000046625
Gene: ENSMUSG00000034570
AA Change: T241N

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 probably benign
Transcript: ENSMUST00000148939
Predicted Effect possibly damaging
Transcript: ENSMUST00000154756
AA Change: T241N

PolyPhen 2 Score 0.691 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000139302
Gene: ENSMUSG00000034570
AA Change: T241N

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
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.0%
  • 20x: 93.3%
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: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4930556J24Rik TAA TAAA 11: 3,887,945 (GRCm39) probably null Het
4930556J24Rik C T 11: 3,926,324 (GRCm39) A27T unknown Het
Ago3 C T 4: 126,298,056 (GRCm39) V155I probably benign Het
Ago3 G A 4: 126,298,103 (GRCm39) A139V probably benign Het
Ago3 C T 4: 126,298,098 (GRCm39) A141T probably benign Het
Ahdc1 ACCTCCT ACCTCCTCCT 4: 132,790,065 (GRCm39) probably benign Het
Azin2 A G 4: 128,839,927 (GRCm39) Y222H probably benign Het
Bpifb5 C A 2: 154,071,384 (GRCm39) probably null Het
Castor1 G C 11: 4,170,445 (GRCm39) G147A probably benign Het
Ccdc157 C T 11: 4,096,246 (GRCm39) A455T probably damaging Het
Ccng1 A C 11: 40,644,871 (GRCm39) S9A probably benign Het
Cfh T C 1: 140,082,336 (GRCm39) T164A probably benign Het
Cherp TTGGACCTGGACCTGGACCTGGACCTGGA TTGGACCTGGACCTGGACCTGGA 8: 73,215,878 (GRCm39) probably benign Het
Chrng T C 1: 87,138,348 (GRCm39) S380P probably benign Het
Clspn ACGGCGGCGGCGGCG ACGGCGGCGGCGGCGGCGGCG 4: 126,460,230 (GRCm39) probably benign Het
Ctrc T TA 4: 141,572,507 (GRCm39) probably null Het
Cxxc1 C T 18: 74,353,992 (GRCm39) R593C probably damaging Het
Dlgap1 T C 17: 70,823,950 (GRCm39) S312P possibly damaging Het
Dnah10 A G 5: 124,840,130 (GRCm39) S1255G probably benign Het
Dpep1 A T 8: 123,927,727 (GRCm39) S388C probably damaging Het
Emid1 T C 11: 5,094,386 (GRCm39) T42A probably damaging Het
Emid1 A C 11: 5,078,884 (GRCm39) L353V probably benign Het
Epn3 A G 11: 94,382,733 (GRCm39) probably null Het
Fam124b T C 1: 80,190,843 (GRCm39) E180G probably benign Het
Fam135b T G 15: 71,335,734 (GRCm39) T487P probably damaging Het
Gja4 G C 4: 127,206,024 (GRCm39) H246Q probably benign Het
Gm9972 GA GAA 11: 42,927,597 (GRCm39) probably null Het
Hmmr G C 11: 40,614,243 (GRCm39) N148K probably damaging Het
Homez C T 14: 55,094,796 (GRCm39) R304K possibly damaging Het
Ifngr1 G A 10: 19,485,221 (GRCm39) V407M probably damaging Het
Kif12 GGGGC GGGGCCTCCACCCGGCGGGC 4: 63,089,660 (GRCm39) probably benign Het
Kremen1 C T 11: 5,145,105 (GRCm39) A424T probably benign Het
Mat2b G A 11: 40,570,918 (GRCm39) T302I probably benign Het
Mtmr3 C T 11: 4,438,441 (GRCm39) R671K probably benign Het
Nacad A G 11: 6,551,632 (GRCm39) C520R probably benign Het
Nacad GCAGGGTCAGGGTC GCAGGGTCAGGGTCAGGGTC 11: 6,549,750 (GRCm39) probably benign Het
Nacad T C 11: 6,551,622 (GRCm39) N523S probably benign Het
Nefh G A 11: 4,890,151 (GRCm39) P823S probably benign Het
Nfrkb G C 9: 31,308,379 (GRCm39) A230P probably benign Het
Nlrp4a A G 7: 26,149,062 (GRCm39) E223G probably damaging Het
Notch3 T A 17: 32,365,391 (GRCm39) Y1107F probably damaging Het
Or10ak9 G T 4: 118,726,500 (GRCm39) R174M probably benign Het
Or13g1 A T 7: 85,955,492 (GRCm39) Y276* probably null Het
Or6c35 A G 10: 129,169,314 (GRCm39) D188G probably benign Het
Osm A G 11: 4,189,588 (GRCm39) D124G probably benign Het
Plekhm2 TTCCTCCTCCT TTCCTCCT 4: 141,359,292 (GRCm39) probably benign Het
Pomgnt1 C T 4: 115,994,624 (GRCm39) probably benign Het
Spen A G 4: 141,201,664 (GRCm39) V2321A probably benign Het
Sytl1 TCTGC TC 4: 132,984,305 (GRCm39) probably benign Het
Tcn2 G C 11: 3,873,487 (GRCm39) F286L possibly damaging Het
Tg T C 15: 66,560,712 (GRCm39) S10P probably benign Het
Tmprss7 C T 16: 45,501,096 (GRCm39) R235Q probably benign Het
Tns3 G A 11: 8,499,100 (GRCm39) probably benign Het
Tns3 G T 11: 8,401,146 (GRCm39) L1051M probably benign Het
Tns3 T G 11: 8,429,518 (GRCm39) E806A probably benign Het
Toe1 T C 4: 116,663,290 (GRCm39) I62M probably benign Het
Txnrd2 A G 16: 18,294,315 (GRCm39) H436R probably damaging Het
Ubr4 C T 4: 139,179,092 (GRCm39) P2001S probably damaging Het
Vmn2r23 T A 6: 123,690,120 (GRCm39) M332K probably benign Het
Zbtb8a GG GGATG 4: 129,253,812 (GRCm39) probably benign Het
Zbtb8a T C 4: 129,254,005 (GRCm39) H163R probably benign Het
Zfyve21 A G 12: 111,794,067 (GRCm39) D206G probably damaging Het
Zkscan4 AGAGGAG AGAG 13: 21,663,370 (GRCm39) probably benign Het
Zmym1 A C 4: 126,943,466 (GRCm39) H307Q probably benign Het
Zmym1 C T 4: 126,941,740 (GRCm39) D785N probably benign Het
Zmym1 C T 4: 126,942,043 (GRCm39) V684I probably benign Het
Zpld2 GTG GTGCTG 4: 133,929,940 (GRCm39) probably benign 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
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
Z1176:Inpp5j UTSW 11 3,452,484 (GRCm39) nonsense probably null
Z1177:Inpp5j UTSW 11 3,452,191 (GRCm39) missense probably damaging 1.00
Predicted Primers
Posted On 2015-02-04