Incidental Mutation 'IGL02342:Phip'
ID 289140
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Phip
Ensembl Gene ENSMUSG00000032253
Gene Name pleckstrin homology domain interacting protein
Synonyms Ndrp, 4632404O06Rik, Wdr11, 2810004D21Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02342
Quality Score
Status
Chromosome 9
Chromosomal Location 82748212-82857569 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 82768745 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tyrosine to Histidine at position 1196 (Y1196H)
Ref Sequence ENSEMBL: ENSMUSP00000034787 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034787]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000034787
AA Change: Y1196H

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000034787
Gene: ENSMUSG00000032253
AA Change: Y1196H

DomainStartEndE-ValueType
WD40 172 211 1.5e-8 SMART
WD40 214 253 4.1e-9 SMART
WD40 256 299 3.5e-7 SMART
WD40 310 349 1.4e-1 SMART
WD40 354 393 6.6e-10 SMART
WD40 408 452 1.4e-2 SMART
WD40 455 495 3.4e-10 SMART
WD40 498 542 6.6e-2 SMART
low complexity region 802 813 N/A INTRINSIC
low complexity region 841 854 N/A INTRINSIC
low complexity region 865 877 N/A INTRINSIC
coiled coil region 881 907 N/A INTRINSIC
low complexity region 928 941 N/A INTRINSIC
BROMO 1158 1261 3.5e-11 SMART
BROMO 1318 1423 4.1e-30 SMART
low complexity region 1438 1463 N/A INTRINSIC
low complexity region 1500 1513 N/A INTRINSIC
low complexity region 1708 1721 N/A INTRINSIC
low complexity region 1752 1758 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000189209
Predicted Effect noncoding transcript
Transcript: ENSMUST00000190774
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that binds to the insulin receptor substrate 1 protein and regulates glucose transporter translocation in skeletal muscle cells. The encoded protein may also regulate growth and survival of pancreatic beta cells. Elevated copy number of this gene may be associated with melanoma severity and the encoded protein may promote melanoma metastasis in human patients. [provided by RefSeq, Oct 2016]
PHENOTYPE: Mice homozygous for a gene trapped allele exhibit postnatal and premature lethality associated with reduced body size, small myocardial cells and hepatocytes, hypoglycemia, increased insulin sensitivity, and reduced cell growth. [provided by MGI curators]
Allele List at MGI

All alleles(34) : Gene trapped(34)

Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9030612E09Rik C A 10: 43,050,997 (GRCm39) P97Q probably damaging Het
Abcb10 A T 8: 124,688,773 (GRCm39) V501E probably damaging Het
Acsf3 T C 8: 123,544,237 (GRCm39) Y572H probably benign Het
Adamts3 A T 5: 89,839,332 (GRCm39) probably null Het
Alox8 A G 11: 69,077,053 (GRCm39) L480P probably damaging Het
Arhgap35 G A 7: 16,296,305 (GRCm39) T920I probably benign Het
Brca2 C A 5: 150,466,289 (GRCm39) L2018M possibly damaging Het
Brdt C A 5: 107,490,069 (GRCm39) H45N probably damaging Het
C1s2 A G 6: 124,609,075 (GRCm39) F155L probably damaging Het
Ccser2 A G 14: 36,640,562 (GRCm39) probably benign Het
Cd8a T A 6: 71,350,723 (GRCm39) C63S probably damaging Het
Clk2 A T 3: 89,082,998 (GRCm39) T424S probably benign Het
Cntn1 A G 15: 92,143,898 (GRCm39) E287G probably benign Het
Cobl A C 11: 12,203,672 (GRCm39) V928G possibly damaging Het
Col12a1 A G 9: 79,557,178 (GRCm39) probably null Het
Crnkl1 A T 2: 145,766,633 (GRCm39) probably null Het
Defb26 T C 2: 152,350,121 (GRCm39) N53S possibly damaging Het
Duox1 A T 2: 122,177,793 (GRCm39) T1526S probably damaging Het
Dync2h1 A G 9: 7,142,246 (GRCm39) L1233P probably damaging Het
Eif5a2 A G 3: 28,847,910 (GRCm39) E116G possibly damaging Het
Garin1b A G 6: 29,323,829 (GRCm39) T185A possibly damaging Het
Gdap2 G A 3: 100,085,632 (GRCm39) A185T probably damaging Het
Grm8 T C 6: 27,363,803 (GRCm39) R571G probably benign Het
Hjv G A 3: 96,435,488 (GRCm39) D249N possibly damaging Het
Hsp90b1 T C 10: 86,531,603 (GRCm39) probably null Het
Ift70a1 G T 2: 75,810,976 (GRCm39) T369K probably benign Het
Ighv1-75 T G 12: 115,797,878 (GRCm39) probably benign Het
Ikzf1 A G 11: 11,650,216 (GRCm39) probably benign Het
Itprid2 A G 2: 79,490,629 (GRCm39) N943S probably benign Het
Kdm4d A G 9: 14,374,860 (GRCm39) W333R probably damaging Het
Lama3 A T 18: 12,624,533 (GRCm39) N1426I probably damaging Het
Lmbrd1 A G 1: 24,743,959 (GRCm39) Y119C probably damaging Het
Mctp1 A G 13: 77,172,976 (GRCm39) Y884C probably damaging Het
Naip6 G T 13: 100,439,748 (GRCm39) P340T possibly damaging Het
Nfkbib G T 7: 28,461,528 (GRCm39) H70N probably damaging Het
Nol4 A T 18: 22,903,926 (GRCm39) probably benign Het
Obscn C T 11: 58,891,914 (GRCm39) A6873T probably benign Het
Or2ag1 A G 7: 106,313,232 (GRCm39) S219P probably benign Het
Or51b4 T A 7: 103,530,587 (GRCm39) I288F probably benign Het
Or6x1 T A 9: 40,098,823 (GRCm39) N137K probably benign Het
Paqr6 A G 3: 88,273,491 (GRCm39) Y136C probably damaging Het
Pcdh18 T A 3: 49,710,493 (GRCm39) D274V probably damaging Het
Prc1 T C 7: 79,959,190 (GRCm39) L345S probably damaging Het
Smpdl3a A G 10: 57,685,276 (GRCm39) probably benign Het
Tac1 G T 6: 7,559,119 (GRCm39) probably null Het
Tasor T A 14: 27,198,624 (GRCm39) S1319T possibly damaging Het
Tg A G 15: 66,636,140 (GRCm39) T576A probably benign Het
Thbs2 A T 17: 14,896,578 (GRCm39) D770E probably damaging Het
Tmem117 T C 15: 94,909,331 (GRCm39) V248A possibly damaging Het
Trpm8 T C 1: 88,255,972 (GRCm39) I209T possibly damaging Het
Wrap53 A G 11: 69,454,417 (GRCm39) F244L probably damaging Het
Wrap73 A T 4: 154,233,237 (GRCm39) Q137L probably benign Het
Zfhx4 A T 3: 5,467,434 (GRCm39) T2531S probably benign Het
Other mutations in Phip
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00809:Phip APN 9 82,753,356 (GRCm39) missense probably damaging 0.99
IGL01510:Phip APN 9 82,795,924 (GRCm39) missense probably benign 0.01
IGL01916:Phip APN 9 82,772,522 (GRCm39) missense possibly damaging 0.61
IGL02068:Phip APN 9 82,827,861 (GRCm39) missense probably damaging 1.00
IGL02089:Phip APN 9 82,753,372 (GRCm39) missense probably damaging 1.00
IGL02121:Phip APN 9 82,775,423 (GRCm39) missense probably damaging 1.00
IGL02132:Phip APN 9 82,763,394 (GRCm39) missense possibly damaging 0.91
IGL02146:Phip APN 9 82,763,771 (GRCm39) missense probably benign 0.05
IGL02282:Phip APN 9 82,795,743 (GRCm39) missense probably benign 0.09
IGL02341:Phip APN 9 82,814,936 (GRCm39) missense probably damaging 1.00
IGL02470:Phip APN 9 82,772,507 (GRCm39) missense possibly damaging 0.69
IGL02585:Phip APN 9 82,785,241 (GRCm39) missense probably benign 0.03
IGL03271:Phip APN 9 82,766,877 (GRCm39) splice site probably benign
3-1:Phip UTSW 9 82,768,724 (GRCm39) missense probably damaging 1.00
R0102:Phip UTSW 9 82,787,845 (GRCm39) splice site probably null
R0102:Phip UTSW 9 82,787,845 (GRCm39) splice site probably null
R0137:Phip UTSW 9 82,809,244 (GRCm39) splice site probably null
R0268:Phip UTSW 9 82,753,341 (GRCm39) missense probably damaging 1.00
R0366:Phip UTSW 9 82,808,460 (GRCm39) missense probably damaging 1.00
R0421:Phip UTSW 9 82,808,510 (GRCm39) missense probably damaging 1.00
R0481:Phip UTSW 9 82,758,769 (GRCm39) splice site probably benign
R0883:Phip UTSW 9 82,758,274 (GRCm39) missense probably benign 0.01
R0885:Phip UTSW 9 82,757,448 (GRCm39) missense probably benign 0.06
R1300:Phip UTSW 9 82,758,800 (GRCm39) missense probably benign 0.00
R1434:Phip UTSW 9 82,841,658 (GRCm39) missense probably damaging 0.99
R1448:Phip UTSW 9 82,797,476 (GRCm39) missense possibly damaging 0.92
R1588:Phip UTSW 9 82,782,881 (GRCm39) missense probably damaging 1.00
R1619:Phip UTSW 9 82,753,502 (GRCm39) missense probably benign 0.20
R1658:Phip UTSW 9 82,753,551 (GRCm39) missense probably benign
R1688:Phip UTSW 9 82,753,710 (GRCm39) missense probably benign
R1773:Phip UTSW 9 82,758,242 (GRCm39) missense probably benign
R1865:Phip UTSW 9 82,827,845 (GRCm39) missense probably damaging 1.00
R1934:Phip UTSW 9 82,785,235 (GRCm39) missense probably benign 0.11
R2070:Phip UTSW 9 82,757,352 (GRCm39) missense probably benign
R2096:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2097:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2099:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2192:Phip UTSW 9 82,753,868 (GRCm39) missense probably damaging 0.99
R2402:Phip UTSW 9 82,757,358 (GRCm39) missense probably benign
R2447:Phip UTSW 9 82,797,452 (GRCm39) missense probably damaging 0.99
R2504:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2507:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R2508:Phip UTSW 9 82,797,392 (GRCm39) missense possibly damaging 0.95
R3706:Phip UTSW 9 82,782,796 (GRCm39) missense probably benign 0.02
R3829:Phip UTSW 9 82,753,698 (GRCm39) missense probably benign
R3846:Phip UTSW 9 82,758,179 (GRCm39) nonsense probably null
R4301:Phip UTSW 9 82,841,766 (GRCm39) nonsense probably null
R4366:Phip UTSW 9 82,782,922 (GRCm39) intron probably benign
R4748:Phip UTSW 9 82,790,922 (GRCm39) missense probably benign 0.01
R4895:Phip UTSW 9 82,841,648 (GRCm39) missense probably benign 0.20
R5001:Phip UTSW 9 82,778,072 (GRCm39) splice site probably null
R5094:Phip UTSW 9 82,753,897 (GRCm39) missense probably benign
R5181:Phip UTSW 9 82,753,243 (GRCm39) utr 3 prime probably benign
R5194:Phip UTSW 9 82,790,915 (GRCm39) missense probably benign 0.03
R5291:Phip UTSW 9 82,827,936 (GRCm39) missense probably damaging 1.00
R5335:Phip UTSW 9 82,782,809 (GRCm39) missense possibly damaging 0.93
R5458:Phip UTSW 9 82,808,553 (GRCm39) missense probably benign 0.40
R5704:Phip UTSW 9 82,753,408 (GRCm39) missense probably damaging 0.97
R5866:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R5870:Phip UTSW 9 82,790,730 (GRCm39) splice site probably benign
R5890:Phip UTSW 9 82,789,005 (GRCm39) missense probably benign 0.00
R6232:Phip UTSW 9 82,785,234 (GRCm39) missense probably benign
R6379:Phip UTSW 9 82,795,910 (GRCm39) missense probably damaging 0.98
R6653:Phip UTSW 9 82,782,794 (GRCm39) nonsense probably null
R7129:Phip UTSW 9 82,759,353 (GRCm39) missense probably damaging 0.98
R7290:Phip UTSW 9 82,753,346 (GRCm39) missense possibly damaging 0.94
R7598:Phip UTSW 9 82,787,711 (GRCm39) missense possibly damaging 0.94
R7632:Phip UTSW 9 82,785,243 (GRCm39) missense probably benign
R7752:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R7827:Phip UTSW 9 82,790,886 (GRCm39) missense probably benign
R7901:Phip UTSW 9 82,772,203 (GRCm39) missense probably benign
R7960:Phip UTSW 9 82,775,401 (GRCm39) missense probably benign 0.00
R8006:Phip UTSW 9 82,772,179 (GRCm39) missense possibly damaging 0.93
R8066:Phip UTSW 9 82,757,351 (GRCm39) missense probably benign 0.05
R8080:Phip UTSW 9 82,769,662 (GRCm39) missense probably damaging 1.00
R8135:Phip UTSW 9 82,812,427 (GRCm39) missense probably benign 0.09
R8347:Phip UTSW 9 82,790,816 (GRCm39) missense probably benign 0.02
R8459:Phip UTSW 9 82,758,106 (GRCm39) missense probably benign
R8705:Phip UTSW 9 82,775,612 (GRCm39) missense probably damaging 0.99
R8706:Phip UTSW 9 82,787,765 (GRCm39) missense possibly damaging 0.89
R8743:Phip UTSW 9 82,809,140 (GRCm39) missense probably benign 0.18
R8801:Phip UTSW 9 82,758,305 (GRCm39) missense probably benign 0.22
R8930:Phip UTSW 9 82,789,041 (GRCm39) missense possibly damaging 0.67
R8932:Phip UTSW 9 82,789,041 (GRCm39) missense possibly damaging 0.67
R8969:Phip UTSW 9 82,809,017 (GRCm39) intron probably benign
R9064:Phip UTSW 9 82,753,540 (GRCm39) missense probably benign 0.20
R9332:Phip UTSW 9 82,757,412 (GRCm39) missense probably damaging 0.98
R9335:Phip UTSW 9 82,814,979 (GRCm39) missense probably benign 0.03
R9520:Phip UTSW 9 82,753,437 (GRCm39) missense possibly damaging 0.88
Posted On 2015-04-16