Incidental Mutation 'R4925:Plekha7'
ID 378960
Institutional Source Beutler Lab
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: 0.427) question?
Stock # R4925 (G1)
Quality Score 225
Status Not validated
Chromosome 7
Chromosomal Location 115722720-115907611 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 115757363 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 529 (F529S)
Ref Sequence ENSEMBL: ENSMUSP00000148936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000216517] [ENSMUST00000183281]
AlphaFold Q3UIL6
Predicted Effect probably damaging
Transcript: ENSMUST00000084664
AA Change: F293S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000081714
Gene: ENSMUSG00000045659
AA Change: F293S

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 damaging
Transcript: ENSMUST00000181981
AA Change: F424S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138766
Gene: ENSMUSG00000045659
AA Change: F424S

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 damaging
Transcript: ENSMUST00000181998
AA Change: F529S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138575
Gene: ENSMUSG00000045659
AA Change: F529S

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 unknown
Transcript: ENSMUST00000182443
AA Change: F447S
Predicted Effect probably damaging
Transcript: ENSMUST00000182487
AA Change: F529S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138214
Gene: ENSMUSG00000045659
AA Change: F529S

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 damaging
Transcript: ENSMUST00000182511
AA Change: F467S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138544
Gene: ENSMUSG00000045659
AA Change: F467S

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 damaging
Transcript: ENSMUST00000182834
AA Change: F483S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000138257
Gene: ENSMUSG00000045659
AA Change: F483S

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 noncoding transcript
Transcript: ENSMUST00000183308
Predicted Effect probably damaging
Transcript: ENSMUST00000216517
AA Change: F529S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Predicted Effect probably benign
Transcript: ENSMUST00000183281
SMART Domains Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
coiled coil region 117 156 N/A INTRINSIC
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 98.0%
  • 10x: 95.0%
  • 20x: 87.7%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810065E05Rik T A 11: 58,316,540 (GRCm39) C173* probably null Het
3425401B19Rik T A 14: 32,385,137 (GRCm39) H276L possibly damaging Het
Adam21 T G 12: 81,607,163 (GRCm39) M200L probably benign Het
Adamts3 A T 5: 89,832,182 (GRCm39) S974T probably benign Het
Adamtsl3 T A 7: 82,251,507 (GRCm39) probably null Het
Atp8b2 A G 3: 89,853,930 (GRCm39) probably null Het
Brd8 T C 18: 34,740,388 (GRCm39) T552A probably benign Het
Btaf1 A G 19: 36,988,733 (GRCm39) S1826G probably benign Het
Ccdc163 A G 4: 116,568,528 (GRCm39) E77G possibly damaging Het
Ces2g A G 8: 105,691,526 (GRCm39) R194G probably benign Het
Cip2a T C 16: 48,836,726 (GRCm39) probably null Het
Cln8 A G 8: 14,945,004 (GRCm39) H106R possibly damaging Het
Col12a1 T G 9: 79,582,077 (GRCm39) L1391F probably damaging Het
Col16a1 G A 4: 129,947,969 (GRCm39) D230N probably damaging Het
Crhbp C A 13: 95,580,318 (GRCm39) G87V possibly damaging Het
Cyp3a16 C T 5: 145,389,644 (GRCm39) M240I probably benign Het
Cyp4a14 A T 4: 115,353,133 (GRCm39) W60R possibly damaging Het
Fam47e A G 5: 92,733,149 (GRCm39) Y304C probably damaging Het
Fgfbp1 A T 5: 44,136,634 (GRCm39) D219E probably damaging Het
Fgfr2 A T 7: 129,787,002 (GRCm39) Y485N probably damaging Het
Fhdc1 C T 3: 84,360,840 (GRCm39) V363M probably damaging Het
Foxb1 T A 9: 69,667,437 (GRCm39) E31V probably damaging Het
Galnt9 T C 5: 110,692,605 (GRCm39) V13A possibly damaging Het
Ghrl T C 6: 113,693,218 (GRCm39) D77G probably damaging Het
Gpr85 A G 6: 13,835,977 (GRCm39) V309A probably benign Het
Greb1 T C 12: 16,731,472 (GRCm39) Y1622C probably damaging Het
Greb1l T A 18: 10,547,447 (GRCm39) M1555K possibly damaging Het
Grin2a T A 16: 9,487,687 (GRCm39) N404Y probably damaging Het
Gtpbp1 A C 15: 79,600,169 (GRCm39) I399L probably benign Het
Hectd4 T C 5: 121,460,753 (GRCm39) S911P possibly damaging Het
Igkc A T 6: 70,703,520 (GRCm39) K34* probably null Het
Igkv4-80 A C 6: 68,993,649 (GRCm39) S81A probably benign Het
Iqgap1 T A 7: 80,415,065 (GRCm39) I149F probably damaging Het
Lama1 C T 17: 68,101,309 (GRCm39) A1934V probably benign Het
Lrp1 C A 10: 127,410,944 (GRCm39) E1415* probably null Het
Lypd8l T A 11: 58,501,513 (GRCm39) T157S probably damaging Het
Macf1 A C 4: 123,420,445 (GRCm39) C270G probably benign Het
Marveld3 A G 8: 110,674,943 (GRCm39) V291A probably benign Het
Med23 T C 10: 24,786,645 (GRCm39) F917S probably damaging Het
Mfng C T 15: 78,648,588 (GRCm39) R163H probably benign Het
Ncan A T 8: 70,562,604 (GRCm39) D551E probably benign Het
Or1e23 A T 11: 73,407,998 (GRCm39) I9N possibly damaging Het
Or4x6 T A 2: 89,949,121 (GRCm39) T274S probably damaging Het
Or52h2 T C 7: 103,839,387 (GRCm39) Y9C possibly damaging Het
Otx1 C A 11: 21,947,037 (GRCm39) A91S probably damaging Het
Pla2g12a T C 3: 129,672,467 (GRCm39) W34R probably damaging Het
Potefam1 T C 2: 111,048,961 (GRCm39) K273E probably benign Het
Ppl T A 16: 4,922,846 (GRCm39) D215V probably damaging Het
Pramel15 A T 4: 144,104,502 (GRCm39) M1K probably null Het
Prdm1 T A 10: 44,316,165 (GRCm39) Y690F probably damaging Het
Prkcd T A 14: 30,329,570 (GRCm39) D124V probably damaging Het
Ptprc C A 1: 138,027,235 (GRCm39) D538Y probably benign Het
Rasl10b G A 11: 83,303,505 (GRCm39) V21M probably damaging Het
Rgsl1 T A 1: 153,688,023 (GRCm39) Y657F probably benign Het
Rrn3 T C 16: 13,617,836 (GRCm39) C360R probably damaging Het
Scarb1 T C 5: 125,374,363 (GRCm39) T257A probably damaging Het
Serpinb2 T A 1: 107,443,219 (GRCm39) M6K probably benign Het
Slco4a1 T C 2: 180,113,849 (GRCm39) Y429H probably benign Het
St13 G C 15: 81,283,786 (GRCm39) R4G probably benign Het
Taar3 T A 10: 23,826,441 (GRCm39) F329Y probably damaging Het
Tardbp A T 4: 148,703,108 (GRCm39) N285K probably benign Het
Tcstv7b A G 13: 120,702,384 (GRCm39) Y60C probably damaging Het
Tnni2 A T 7: 141,996,430 (GRCm39) E4V probably benign Het
Tnpo2 A T 8: 85,776,654 (GRCm39) I454F probably damaging Het
Tpr T G 1: 150,308,316 (GRCm39) H1690Q probably benign Het
Trav18 T C 14: 54,068,577 (GRCm39) S6P probably benign Het
Trf T C 9: 103,096,445 (GRCm39) N25S probably benign Het
Vmn1r59 T C 7: 5,457,115 (GRCm39) N215S probably benign Het
Vmn2r2 T C 3: 64,044,892 (GRCm39) M1V probably null Het
Wdr64 T C 1: 175,552,268 (GRCm39) probably null Het
Wdr73 T C 7: 80,542,943 (GRCm39) S222G probably benign 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
IGL02110:Plekha7 APN 7 115,753,863 (GRCm39) splice site probably null
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
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
Predicted Primers PCR Primer
(F):5'- AGAGATGTCCACACTCCTCC -3'
(R):5'- GAGTCTTCCCAAGAGCACTAGAC -3'

Sequencing Primer
(F):5'- GTGGCTTCACTGTGACCC -3'
(R):5'- AGCACTAGACATCTTTCTGGGAGC -3'
Posted On 2016-04-15