Incidental Mutation 'IGL02110:Plekha7'
ID 280106
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Plekha7
Ensembl Gene ENSMUSG00000045659
Gene Name pleckstrin homology domain containing, family A member 7
Synonyms A430081P20Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # IGL02110
Quality Score
Status
Chromosome 7
Chromosomal Location 115722720-115907611 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to A at 115753863 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000183281] [ENSMUST00000216517]
AlphaFold Q3UIL6
Predicted Effect probably null
Transcript: ENSMUST00000084664
SMART Domains Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
Blast:PH 1 47 2e-23 BLAST
SCOP:d1kz7a2 18 69 1e-5 SMART
low complexity region 100 112 N/A INTRINSIC
low complexity region 141 154 N/A INTRINSIC
low complexity region 322 351 N/A INTRINSIC
coiled coil region 461 500 N/A INTRINSIC
coiled coil region 529 562 N/A INTRINSIC
low complexity region 677 693 N/A INTRINSIC
coiled coil region 828 856 N/A INTRINSIC
low complexity region 947 959 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000181981
SMART Domains Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
PH 59 178 1.42e-18 SMART
low complexity region 231 243 N/A INTRINSIC
low complexity region 272 285 N/A INTRINSIC
low complexity region 453 482 N/A INTRINSIC
coiled coil region 592 631 N/A INTRINSIC
coiled coil region 660 693 N/A INTRINSIC
low complexity region 808 824 N/A INTRINSIC
coiled coil region 959 987 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000181998
SMART Domains Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
WW 9 41 4.51e-2 SMART
WW 54 86 7.79e-6 SMART
PH 164 283 1.42e-18 SMART
low complexity region 336 348 N/A INTRINSIC
low complexity region 377 390 N/A INTRINSIC
low complexity region 558 587 N/A INTRINSIC
coiled coil region 697 736 N/A INTRINSIC
coiled coil region 765 798 N/A INTRINSIC
low complexity region 913 929 N/A INTRINSIC
coiled coil region 1064 1092 N/A INTRINSIC
low complexity region 1183 1195 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182443
Predicted Effect probably null
Transcript: ENSMUST00000182487
SMART Domains Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
WW 9 41 4.51e-2 SMART
WW 54 86 7.79e-6 SMART
PH 164 283 1.42e-18 SMART
low complexity region 336 348 N/A INTRINSIC
low complexity region 377 390 N/A INTRINSIC
low complexity region 558 587 N/A INTRINSIC
coiled coil region 697 736 N/A INTRINSIC
coiled coil region 765 798 N/A INTRINSIC
low complexity region 913 929 N/A INTRINSIC
coiled coil region 1064 1092 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182511
SMART Domains Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
PH 102 221 1.42e-18 SMART
low complexity region 274 286 N/A INTRINSIC
low complexity region 315 328 N/A INTRINSIC
low complexity region 496 525 N/A INTRINSIC
coiled coil region 635 674 N/A INTRINSIC
coiled coil region 703 736 N/A INTRINSIC
low complexity region 851 867 N/A INTRINSIC
coiled coil region 1002 1030 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000182834
SMART Domains Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
PH 118 237 1.42e-18 SMART
low complexity region 290 302 N/A INTRINSIC
low complexity region 331 344 N/A INTRINSIC
low complexity region 512 541 N/A INTRINSIC
coiled coil region 651 690 N/A INTRINSIC
coiled coil region 719 752 N/A INTRINSIC
low complexity region 867 883 N/A INTRINSIC
coiled coil region 1018 1046 N/A INTRINSIC
low complexity region 1137 1149 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000183281
SMART Domains Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
coiled coil region 117 156 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000183308
Predicted Effect probably null
Transcript: ENSMUST00000216517
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Mice homozygous for a null allele show decreased susceptibility to bacterial infection. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apol7e A G 15: 77,598,548 (GRCm39) probably null Het
Arhgef40 C T 14: 52,226,862 (GRCm39) T302M probably damaging Het
Bap1 T C 14: 30,979,371 (GRCm39) L458P probably damaging Het
Bbs12 A G 3: 37,373,336 (GRCm39) E43G probably benign Het
Bod1l C T 5: 41,973,796 (GRCm39) C2506Y probably damaging Het
Ccdc170 A G 10: 4,491,885 (GRCm39) probably null Het
Chpf2 A G 5: 24,796,710 (GRCm39) E552G probably damaging Het
Comp T A 8: 70,826,289 (GRCm39) I23N probably benign Het
Cxcl2 T C 5: 91,052,211 (GRCm39) probably benign Het
Dctn5 T C 7: 121,734,374 (GRCm39) F73L probably damaging Het
Ddx5 T C 11: 106,675,835 (GRCm39) E285G probably damaging Het
Ddx60 T G 8: 62,470,281 (GRCm39) probably null Het
Dhcr24 T A 4: 106,430,998 (GRCm39) I229N probably damaging Het
Dnah7a G A 1: 53,450,739 (GRCm39) T3897I possibly damaging Het
Dvl2 T A 11: 69,898,842 (GRCm39) probably benign Het
Dytn A T 1: 63,686,632 (GRCm39) V346E possibly damaging Het
Eepd1 T C 9: 25,514,698 (GRCm39) probably benign Het
Fbln2 G T 6: 91,211,084 (GRCm39) A343S probably benign Het
Flywch1 T C 17: 23,982,066 (GRCm39) probably null Het
Gckr A T 5: 31,456,082 (GRCm39) T81S possibly damaging Het
Gm6139 T A 5: 129,700,656 (GRCm39) noncoding transcript Het
Gpcpd1 A T 2: 132,372,530 (GRCm39) C657* probably null Het
Greb1l A G 18: 10,515,271 (GRCm39) I89V probably damaging Het
Hdac4 G A 1: 91,912,127 (GRCm39) P421S probably benign Het
Iqca1l A G 5: 24,753,082 (GRCm39) probably benign Het
Klhl1 A G 14: 96,374,039 (GRCm39) L669P probably benign Het
Mios A G 6: 8,215,565 (GRCm39) R254G probably damaging Het
Mmp19 A G 10: 128,630,727 (GRCm39) N116D probably damaging Het
Muc5b T A 7: 141,401,453 (GRCm39) C566* probably null Het
Nadsyn1 T C 7: 143,367,164 (GRCm39) Y141C probably damaging Het
Nlrp4d T C 7: 10,116,491 (GRCm39) noncoding transcript Het
Nob1 A T 8: 108,142,804 (GRCm39) *160R probably null Het
Or10ac1 A G 6: 42,515,113 (GRCm39) V281A possibly damaging Het
Or1f12 T A 13: 21,722,112 (GRCm39) Q21L possibly damaging Het
Or1j17 A G 2: 36,578,697 (GRCm39) T228A probably benign Het
Or4k45 C T 2: 111,395,252 (GRCm39) C179Y probably damaging Het
Or51s1 C T 7: 102,558,402 (GRCm39) V215I probably benign Het
Or56b1b C A 7: 108,164,286 (GRCm39) A239S probably damaging Het
Phc1 T C 6: 122,298,994 (GRCm39) D658G possibly damaging Het
Pitx2 T G 3: 129,012,466 (GRCm39) S299A probably damaging Het
Ptgfr A G 3: 151,541,097 (GRCm39) V137A probably damaging Het
Ptprb T C 10: 116,167,108 (GRCm39) probably benign Het
Rasl2-9 C T 7: 5,128,346 (GRCm39) A195T probably benign Het
Ripor3 T A 2: 167,836,626 (GRCm39) Q121L possibly damaging Het
Sgsh G T 11: 119,243,632 (GRCm39) A30E probably damaging Het
Sis G T 3: 72,836,032 (GRCm39) C852* probably null Het
Slc17a9 A G 2: 180,374,369 (GRCm39) probably benign Het
Slco6b1 A T 1: 96,915,607 (GRCm39) noncoding transcript Het
Smarca2 A G 19: 26,650,140 (GRCm39) Y704C possibly damaging Het
Spata6 A T 4: 111,642,003 (GRCm39) H291L possibly damaging Het
Stra8 T C 6: 34,907,289 (GRCm39) probably benign Het
Taldo1 T C 7: 140,982,647 (GRCm39) probably benign Het
Tmco6 T C 18: 36,868,219 (GRCm39) probably benign Het
Tmpo A C 10: 90,998,727 (GRCm39) S353R probably damaging Het
Tpr A T 1: 150,311,493 (GRCm39) Q1757L probably damaging Het
Ubn1 T C 16: 4,899,754 (GRCm39) probably benign Het
Vmn2r83 T C 10: 79,327,534 (GRCm39) V714A possibly damaging Het
Zfp407 G T 18: 84,577,165 (GRCm39) A1316D probably benign Het
Zzef1 T A 11: 72,803,938 (GRCm39) I2560N probably damaging Het
Other mutations in Plekha7
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00502:Plekha7 APN 7 115,734,419 (GRCm39) missense probably damaging 1.00
IGL01133:Plekha7 APN 7 115,744,476 (GRCm39) splice site probably null
IGL01146:Plekha7 APN 7 115,756,708 (GRCm39) splice site probably benign
IGL01307:Plekha7 APN 7 115,744,479 (GRCm39) splice site probably benign
IGL02063:Plekha7 APN 7 115,739,936 (GRCm39) missense possibly damaging 0.78
IGL02420:Plekha7 APN 7 115,757,469 (GRCm39) missense probably damaging 1.00
IGL02660:Plekha7 APN 7 115,756,809 (GRCm39) splice site probably benign
IGL02851:Plekha7 APN 7 115,734,413 (GRCm39) missense probably damaging 1.00
Plexus UTSW 7 115,747,559 (GRCm39) missense probably benign 0.07
R0614_Plekha7_947 UTSW 7 115,753,880 (GRCm39) nonsense probably null
R4750_Plekha7_499 UTSW 7 115,736,546 (GRCm39) missense probably damaging 1.00
R4810_Plekha7_997 UTSW 7 115,744,173 (GRCm39) missense probably damaging 1.00
Rhexis UTSW 7 115,736,403 (GRCm39) splice site probably null
R0066:Plekha7 UTSW 7 115,756,743 (GRCm39) missense probably damaging 1.00
R0066:Plekha7 UTSW 7 115,756,743 (GRCm39) missense probably damaging 1.00
R0130:Plekha7 UTSW 7 115,769,939 (GRCm39) missense probably damaging 0.99
R0348:Plekha7 UTSW 7 115,757,255 (GRCm39) missense probably damaging 1.00
R0595:Plekha7 UTSW 7 115,744,203 (GRCm39) missense probably damaging 1.00
R0614:Plekha7 UTSW 7 115,753,880 (GRCm39) nonsense probably null
R0732:Plekha7 UTSW 7 115,744,472 (GRCm39) missense probably damaging 1.00
R1664:Plekha7 UTSW 7 115,734,269 (GRCm39) splice site probably null
R1695:Plekha7 UTSW 7 115,727,920 (GRCm39) missense probably damaging 1.00
R1794:Plekha7 UTSW 7 115,739,916 (GRCm39) missense probably damaging 1.00
R1895:Plekha7 UTSW 7 115,744,209 (GRCm39) missense probably damaging 1.00
R2153:Plekha7 UTSW 7 115,775,002 (GRCm39) missense probably damaging 1.00
R3106:Plekha7 UTSW 7 115,763,639 (GRCm39) missense probably benign 0.02
R3605:Plekha7 UTSW 7 115,763,477 (GRCm39) missense possibly damaging 0.68
R3606:Plekha7 UTSW 7 115,763,477 (GRCm39) missense possibly damaging 0.68
R3789:Plekha7 UTSW 7 115,774,969 (GRCm39) missense probably damaging 1.00
R4584:Plekha7 UTSW 7 115,836,768 (GRCm39) intron probably benign
R4750:Plekha7 UTSW 7 115,736,546 (GRCm39) missense probably damaging 1.00
R4774:Plekha7 UTSW 7 115,744,178 (GRCm39) missense probably damaging 1.00
R4810:Plekha7 UTSW 7 115,744,173 (GRCm39) missense probably damaging 1.00
R4895:Plekha7 UTSW 7 115,788,626 (GRCm39) splice site probably null
R4925:Plekha7 UTSW 7 115,757,363 (GRCm39) missense probably damaging 1.00
R5556:Plekha7 UTSW 7 115,763,384 (GRCm39) missense probably benign 0.20
R5599:Plekha7 UTSW 7 115,776,117 (GRCm39) splice site probably null
R5848:Plekha7 UTSW 7 115,739,634 (GRCm39) missense probably damaging 1.00
R5928:Plekha7 UTSW 7 115,727,809 (GRCm39) missense probably benign
R5941:Plekha7 UTSW 7 115,724,040 (GRCm39) missense possibly damaging 0.56
R6351:Plekha7 UTSW 7 115,776,133 (GRCm39) missense probably damaging 1.00
R6520:Plekha7 UTSW 7 115,763,717 (GRCm39) missense probably benign 0.16
R6699:Plekha7 UTSW 7 115,734,410 (GRCm39) missense probably damaging 1.00
R6781:Plekha7 UTSW 7 115,757,090 (GRCm39) critical splice donor site probably null
R6843:Plekha7 UTSW 7 115,742,555 (GRCm39) missense probably benign 0.45
R6977:Plekha7 UTSW 7 115,735,202 (GRCm39) missense probably benign 0.01
R7048:Plekha7 UTSW 7 115,747,559 (GRCm39) missense probably benign 0.07
R7269:Plekha7 UTSW 7 115,780,447 (GRCm39) missense probably damaging 1.00
R7480:Plekha7 UTSW 7 115,736,403 (GRCm39) splice site probably null
R7520:Plekha7 UTSW 7 115,736,519 (GRCm39) missense possibly damaging 0.95
R7609:Plekha7 UTSW 7 115,763,681 (GRCm39) missense probably benign 0.25
R7680:Plekha7 UTSW 7 115,763,511 (GRCm39) missense probably benign 0.00
R7820:Plekha7 UTSW 7 115,836,715 (GRCm39) missense probably benign 0.12
R7989:Plekha7 UTSW 7 115,757,558 (GRCm39) missense probably benign 0.04
R8383:Plekha7 UTSW 7 115,744,154 (GRCm39) missense probably damaging 0.98
R8523:Plekha7 UTSW 7 115,907,164 (GRCm39) missense probably benign 0.01
R8863:Plekha7 UTSW 7 115,753,875 (GRCm39) missense probably damaging 1.00
R8920:Plekha7 UTSW 7 115,744,218 (GRCm39) missense probably benign 0.13
R8926:Plekha7 UTSW 7 115,756,223 (GRCm39) splice site probably benign
R9176:Plekha7 UTSW 7 115,739,926 (GRCm39) missense possibly damaging 0.94
R9576:Plekha7 UTSW 7 115,728,669 (GRCm39) missense possibly damaging 0.91
Z1177:Plekha7 UTSW 7 115,907,206 (GRCm39) missense probably damaging 1.00
Z1177:Plekha7 UTSW 7 115,739,898 (GRCm39) missense probably benign 0.01
Posted On 2015-04-16