Incidental Mutation 'IGL02645:Intu'
ID 301903
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Intu
Ensembl Gene ENSMUSG00000060798
Gene Name inturned planar cell polarity protein
Synonyms Pdzk6, 9230116I04Rik, Pdzd6, 9430087H23Rik
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # IGL02645
Quality Score
Status
Chromosome 3
Chromosomal Location 40585559-40659206 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 40655702 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 930 (I930V)
Ref Sequence ENSEMBL: ENSMUSP00000088725 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091186]
AlphaFold Q059U7
Predicted Effect probably benign
Transcript: ENSMUST00000091186
AA Change: I930V

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000088725
Gene: ENSMUSG00000060798
AA Change: I930V

DomainStartEndE-ValueType
low complexity region 21 48 N/A INTRINSIC
low complexity region 64 81 N/A INTRINSIC
PDZ 187 269 2.09e-3 SMART
low complexity region 459 468 N/A INTRINSIC
low complexity region 774 784 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice show defective ciliogenesis and neural tube closure, abnormal patterning of the CNS and limbs, polydactyly, edema and death by E16.5. Homozygotes for a hypomorphic allele show defective ciliation and endochondral ossification, stunted growth, polydactyly and postnatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ang4 T C 14: 52,001,804 (GRCm39) Y48C probably damaging Het
Aox1 T A 1: 58,373,883 (GRCm39) M848K probably damaging Het
Apol7c A T 15: 77,413,083 (GRCm39) S56T probably benign Het
Asic4 G A 1: 75,449,998 (GRCm39) probably benign Het
Asxl1 A G 2: 153,234,777 (GRCm39) K162R possibly damaging Het
Car12 T A 9: 66,654,961 (GRCm39) H130Q probably benign Het
Cars1 T C 7: 143,111,646 (GRCm39) E737G probably damaging Het
Ccdc141 G A 2: 76,905,211 (GRCm39) R412* probably null Het
Cd36 T C 5: 17,990,878 (GRCm39) T421A probably benign Het
Clasp2 T G 9: 113,719,129 (GRCm39) M758R probably damaging Het
Dock10 T A 1: 80,551,840 (GRCm39) Y665F probably damaging Het
Ebf4 A G 2: 130,203,761 (GRCm39) K471E probably damaging Het
Fat2 T A 11: 55,173,654 (GRCm39) D2353V probably damaging Het
Gm10136 A G 19: 28,981,140 (GRCm39) probably benign Het
Ndrg2 T A 14: 52,143,979 (GRCm39) M300L possibly damaging Het
Nhs A G X: 160,942,054 (GRCm39) S111P probably benign Het
Nme8 T A 13: 19,844,755 (GRCm39) L111F probably damaging Het
Nol8 T A 13: 49,818,947 (GRCm39) probably null Het
Or10g1b T A 14: 52,627,958 (GRCm39) T91S possibly damaging Het
Or12e13 C T 2: 87,663,959 (GRCm39) T192M probably benign Het
Or4a76 T C 2: 89,460,679 (GRCm39) T188A probably benign Het
Or4c116 T C 2: 88,941,963 (GRCm39) R298G probably benign Het
Pcdhac2 G A 18: 37,278,292 (GRCm39) G424D probably damaging Het
Pex3 T G 10: 13,422,173 (GRCm39) E42D possibly damaging Het
Plxnb1 C T 9: 108,943,311 (GRCm39) probably benign Het
Rpe65 T A 3: 159,312,128 (GRCm39) I209N probably damaging Het
Rsl1 T A 13: 67,330,273 (GRCm39) F240L probably benign Het
Rttn A T 18: 89,128,810 (GRCm39) I1921F probably benign Het
Scn3a A T 2: 65,344,871 (GRCm39) F539Y probably benign Het
Secisbp2 T A 13: 51,836,496 (GRCm39) M767K probably damaging Het
Sipa1l3 C T 7: 29,028,405 (GRCm39) probably null Het
Slfn8 T C 11: 82,894,380 (GRCm39) N753S possibly damaging Het
Spmip6 A G 4: 41,517,080 (GRCm39) V28A probably damaging Het
Sympk T G 7: 18,786,349 (GRCm39) V984G probably damaging Het
Tacr3 A T 3: 134,566,943 (GRCm39) D272V possibly damaging Het
Timd6 A G 11: 46,477,047 (GRCm39) R167G probably benign Het
Tnpo3 G T 6: 29,562,899 (GRCm39) S606* probably null Het
Zfp804a T C 2: 81,884,220 (GRCm39) L29P possibly damaging Het
Zfp94 C T 7: 24,003,179 (GRCm39) G88R probably benign Het
Other mutations in Intu
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01292:Intu APN 3 40,618,696 (GRCm39) missense probably benign 0.12
IGL01386:Intu APN 3 40,647,017 (GRCm39) missense probably damaging 1.00
IGL02869:Intu APN 3 40,642,216 (GRCm39) missense probably damaging 1.00
IGL03263:Intu APN 3 40,627,027 (GRCm39) nonsense probably null
H8562:Intu UTSW 3 40,647,103 (GRCm39) missense probably damaging 1.00
PIT4495001:Intu UTSW 3 40,652,033 (GRCm39) missense probably benign 0.07
R0010:Intu UTSW 3 40,608,702 (GRCm39) intron probably benign
R0173:Intu UTSW 3 40,629,776 (GRCm39) critical splice donor site probably null
R0426:Intu UTSW 3 40,629,735 (GRCm39) missense probably damaging 0.97
R1566:Intu UTSW 3 40,647,008 (GRCm39) missense probably damaging 0.99
R1619:Intu UTSW 3 40,652,061 (GRCm39) nonsense probably null
R1658:Intu UTSW 3 40,647,211 (GRCm39) missense probably benign 0.20
R1701:Intu UTSW 3 40,618,694 (GRCm39) missense probably damaging 1.00
R1707:Intu UTSW 3 40,637,931 (GRCm39) missense possibly damaging 0.69
R1707:Intu UTSW 3 40,595,073 (GRCm39) missense probably benign 0.03
R1867:Intu UTSW 3 40,618,765 (GRCm39) missense probably damaging 1.00
R1868:Intu UTSW 3 40,618,765 (GRCm39) missense probably damaging 1.00
R2090:Intu UTSW 3 40,637,966 (GRCm39) missense probably benign 0.00
R2310:Intu UTSW 3 40,608,243 (GRCm39) missense probably benign
R2989:Intu UTSW 3 40,647,140 (GRCm39) missense probably benign 0.11
R4168:Intu UTSW 3 40,627,053 (GRCm39) missense probably benign 0.00
R4530:Intu UTSW 3 40,637,794 (GRCm39) missense possibly damaging 0.95
R5093:Intu UTSW 3 40,647,347 (GRCm39) missense probably benign 0.00
R5541:Intu UTSW 3 40,647,017 (GRCm39) splice site probably null
R5587:Intu UTSW 3 40,629,738 (GRCm39) missense probably damaging 0.99
R5745:Intu UTSW 3 40,647,402 (GRCm39) splice site probably null
R5809:Intu UTSW 3 40,634,020 (GRCm39) missense probably damaging 0.99
R5939:Intu UTSW 3 40,647,014 (GRCm39) missense probably damaging 1.00
R5953:Intu UTSW 3 40,633,980 (GRCm39) missense probably damaging 1.00
R6000:Intu UTSW 3 40,608,578 (GRCm39) nonsense probably null
R6063:Intu UTSW 3 40,608,524 (GRCm39) missense probably damaging 0.97
R6245:Intu UTSW 3 40,629,756 (GRCm39) missense probably damaging 0.98
R6310:Intu UTSW 3 40,655,721 (GRCm39) nonsense probably null
R6353:Intu UTSW 3 40,608,138 (GRCm39) missense probably damaging 1.00
R6451:Intu UTSW 3 40,655,723 (GRCm39) missense possibly damaging 0.94
R6660:Intu UTSW 3 40,586,100 (GRCm39) missense probably benign 0.00
R6848:Intu UTSW 3 40,648,685 (GRCm39) missense probably benign 0.00
R7440:Intu UTSW 3 40,651,981 (GRCm39) missense probably benign 0.04
R7625:Intu UTSW 3 40,652,029 (GRCm39) missense probably benign
R7633:Intu UTSW 3 40,608,683 (GRCm39) missense probably damaging 1.00
R7798:Intu UTSW 3 40,646,359 (GRCm39) missense probably damaging 1.00
R7877:Intu UTSW 3 40,654,222 (GRCm39) missense probably benign 0.07
R7978:Intu UTSW 3 40,652,069 (GRCm39) missense probably damaging 1.00
R8319:Intu UTSW 3 40,608,202 (GRCm39) missense probably damaging 1.00
R8332:Intu UTSW 3 40,629,719 (GRCm39) missense probably benign 0.35
R8860:Intu UTSW 3 40,627,162 (GRCm39) missense probably benign 0.07
R8926:Intu UTSW 3 40,608,139 (GRCm39) missense possibly damaging 0.69
R8946:Intu UTSW 3 40,637,789 (GRCm39) missense possibly damaging 0.93
R9164:Intu UTSW 3 40,645,133 (GRCm39) missense probably damaging 1.00
R9191:Intu UTSW 3 40,646,941 (GRCm39) missense probably damaging 0.99
R9547:Intu UTSW 3 40,608,536 (GRCm39) missense probably benign
Z1177:Intu UTSW 3 40,651,946 (GRCm39) missense possibly damaging 0.80
Posted On 2015-04-16