Incidental Mutation 'R6781:Plekha7'
ID 531420
Institutional Source Beutler Lab
Gene Symbol Plekha7
Ensembl Gene ENSMUSG00000045659
Gene Name pleckstrin homology domain containing, family A member 7
Synonyms A430081P20Rik
MMRRC Submission 044895-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.406) question?
Stock # R6781 (G1)
Quality Score 225.009
Status Validated
Chromosome 7
Chromosomal Location 115722720-115907611 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 115757090 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000148936 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000084664] [ENSMUST00000084664] [ENSMUST00000181981] [ENSMUST00000181981] [ENSMUST00000181998] [ENSMUST00000181998] [ENSMUST00000182487] [ENSMUST00000182487] [ENSMUST00000182511] [ENSMUST00000182511] [ENSMUST00000182834] [ENSMUST00000182834] [ENSMUST00000183281] [ENSMUST00000183281] [ENSMUST00000216517] [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: 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: 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: 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: 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: 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: 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: 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 probably null
Transcript: ENSMUST00000183281
SMART Domains Protein: ENSMUSP00000138126
Gene: ENSMUSG00000045659

DomainStartEndE-ValueType
coiled coil region 117 156 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000216517
Predicted Effect probably null
Transcript: ENSMUST00000216517
Meta Mutation Damage Score 0.9484 question?
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.4%
Validation Efficiency 98% (45/46)
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: 46 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T A 17: 24,593,380 (GRCm39) I259N possibly damaging Het
Acot12 G T 13: 91,932,531 (GRCm39) probably null Het
AI182371 G T 2: 34,974,717 (GRCm39) probably benign Het
Amigo3 T C 9: 107,931,162 (GRCm39) L195P probably damaging Het
Aox4 A T 1: 58,284,268 (GRCm39) D556V probably benign Het
Arhgef40 A C 14: 52,235,354 (GRCm39) probably benign Het
Asb15 T C 6: 24,558,674 (GRCm39) V63A probably benign Het
Bicd1 T C 6: 149,414,664 (GRCm39) I459T possibly damaging Het
Bub1 C A 2: 127,649,777 (GRCm39) G694W probably damaging Het
C4b A T 17: 34,961,928 (GRCm39) I106N probably damaging Het
Clca4b T C 3: 144,628,562 (GRCm39) I382V probably benign Het
Cntnap5a A C 1: 116,220,127 (GRCm39) S646R probably benign Het
Cntnap5c C T 17: 58,445,648 (GRCm39) Q563* probably null Het
Cpn1 A G 19: 43,969,343 (GRCm39) F107L possibly damaging Het
Csrnp3 T A 2: 65,852,615 (GRCm39) C336S probably benign Het
Defa3 T A 8: 21,778,277 (GRCm39) M87K probably benign Het
Dennd2b T C 7: 109,124,511 (GRCm39) D1110G possibly damaging Het
Dmbt1 T C 7: 130,648,291 (GRCm39) F274L probably benign Het
Dnah8 TTA TTATA 17: 30,984,698 (GRCm39) probably null Het
Dnase2b T C 3: 146,288,126 (GRCm39) H323R probably benign Het
Fam83e A T 7: 45,371,571 (GRCm39) probably benign Het
Fbn1 T C 2: 125,158,958 (GRCm39) N2269S probably damaging Het
Foxa1 A T 12: 57,590,043 (GRCm39) M59K possibly damaging Het
Fpr3 T C 17: 18,190,978 (GRCm39) V83A probably benign Het
Frmd6 A G 12: 70,946,417 (GRCm39) D615G possibly damaging Het
Gfra3 T C 18: 34,844,375 (GRCm39) K55R possibly damaging Het
Gm5414 A T 15: 101,534,096 (GRCm39) S296T possibly damaging Het
Gtf3c1 T A 7: 125,258,369 (GRCm39) K1234* probably null Het
Hltf T A 3: 20,152,330 (GRCm39) Y609N probably benign Het
Idh2 TCCCAGG T 7: 79,748,079 (GRCm39) probably benign Het
Ift74 A G 4: 94,515,539 (GRCm39) D152G probably damaging Het
Kcnk6 T C 7: 28,924,480 (GRCm39) Y308C probably damaging Het
Klhl29 A G 12: 5,141,347 (GRCm39) S546P probably damaging Het
Map7d1 AGGGCAGCC AGGGCAGCCGGGCAGCC 4: 126,134,544 (GRCm39) probably null Het
Meis2 T A 2: 115,879,636 (GRCm39) H228L probably benign Het
Mfsd10 A T 5: 34,791,853 (GRCm39) M344K possibly damaging Het
Mrps33 T C 6: 39,782,757 (GRCm39) probably benign Het
Or2a52 A G 6: 43,144,322 (GRCm39) E110G probably damaging Het
Or4p23 A T 2: 88,577,174 (GRCm39) N19K probably benign Het
Pik3cb T C 9: 98,923,045 (GRCm39) T996A possibly damaging Het
Ppp1cb A G 5: 32,638,106 (GRCm39) Y86C probably damaging Het
Sass6 T G 3: 116,388,773 (GRCm39) probably benign Het
Slc6a15 A T 10: 103,230,928 (GRCm39) I218F probably damaging Het
Tcf23 C T 5: 31,126,304 (GRCm39) P61L probably benign Het
Yod1 G A 1: 130,645,275 (GRCm39) G19S probably damaging Het
Zc3h6 T C 2: 128,857,341 (GRCm39) F620S 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
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
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
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'- ATGGACACCTTTCTCACTGGG -3'
(R):5'- TCTATGAGTGGCAGCAGAGG -3'

Sequencing Primer
(F):5'- TGGGCACAGCACAGCAAAC -3'
(R):5'- AGAGTTCACCGAGCAGGGTC -3'
Posted On 2018-08-29