Incidental Mutation 'R7626:Plekhn1'
ID 589437
Institutional Source Beutler Lab
Gene Symbol Plekhn1
Ensembl Gene ENSMUSG00000078485
Gene Name pleckstrin homology domain containing, family N member 1
Synonyms
MMRRC Submission 045690-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R7626 (G1)
Quality Score 225.009
Status Validated
Chromosome 4
Chromosomal Location 156305913-156312999 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 156310110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Leucine at position 68 (H68L)
Ref Sequence ENSEMBL: ENSMUSP00000151311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105569] [ENSMUST00000105571] [ENSMUST00000105572] [ENSMUST00000217885] [ENSMUST00000218699]
AlphaFold Q8C886
Predicted Effect probably benign
Transcript: ENSMUST00000105569
SMART Domains Protein: ENSMUSP00000101194
Gene: ENSMUSG00000078485

DomainStartEndE-ValueType
low complexity region 20 50 N/A INTRINSIC
BTB 90 187 3.55e-30 SMART
BACK 192 294 1.08e-42 SMART
Kelch 341 387 4.01e-8 SMART
Kelch 388 434 5.41e-14 SMART
Kelch 435 481 6.97e-17 SMART
Kelch 482 528 1.55e-14 SMART
Kelch 529 575 2.02e-13 SMART
Kelch 576 622 1.34e-9 SMART
low complexity region 626 640 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105571
AA Change: H68L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485
AA Change: H68L

DomainStartEndE-ValueType
PH 96 192 4.6e-4 SMART
PH 227 324 8.34e-2 SMART
low complexity region 346 359 N/A INTRINSIC
low complexity region 403 414 N/A INTRINSIC
low complexity region 499 527 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000105572
SMART Domains Protein: ENSMUSP00000101197
Gene: ENSMUSG00000078486

DomainStartEndE-ValueType
low complexity region 40 58 N/A INTRINSIC
low complexity region 145 160 N/A INTRINSIC
low complexity region 441 452 N/A INTRINSIC
low complexity region 544 553 N/A INTRINSIC
low complexity region 606 616 N/A INTRINSIC
low complexity region 790 806 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000217885
AA Change: H68L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Predicted Effect probably benign
Transcript: ENSMUST00000218699
AA Change: H68L

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency 100% (56/56)
Allele List at MGI
Other mutations in this stock
Total: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta2 G A 19: 34,229,931 (GRCm39) T8I probably benign Het
Alox5 T C 6: 116,390,756 (GRCm39) D465G possibly damaging Het
Arhgef16 T A 4: 154,367,339 (GRCm39) K355N possibly damaging Het
Camkk2 T A 5: 122,902,363 (GRCm39) probably benign Het
Ccdc171 C T 4: 83,499,012 (GRCm39) Q237* probably null Het
Ces2b T C 8: 105,564,017 (GRCm39) Y464H possibly damaging Het
Cntfr A G 4: 41,662,013 (GRCm39) F243S possibly damaging Het
Crip3 A T 17: 46,740,791 (GRCm39) R65S probably benign Het
Dcn A G 10: 97,319,340 (GRCm39) Y39C possibly damaging Het
Degs2 T C 12: 108,658,332 (GRCm39) S216G possibly damaging Het
Dmxl1 A G 18: 50,035,861 (GRCm39) I2295V probably benign Het
Dnah2 A G 11: 69,389,511 (GRCm39) S794P probably damaging Het
Eri1 A C 8: 35,941,554 (GRCm39) Y264* probably null Het
Etl4 T C 2: 20,718,189 (GRCm39) L179P probably damaging Het
F5 T G 1: 164,014,481 (GRCm39) M584R possibly damaging Het
Fam98c G T 7: 28,852,248 (GRCm39) R104S probably damaging Het
Flad1 A T 3: 89,310,718 (GRCm39) I443N probably benign Het
Hbp1 T C 12: 31,993,899 (GRCm39) E43G probably benign Het
Hivep3 CGG CG 4: 119,955,108 (GRCm39) 1141 probably null Het
Kcnj3 T A 2: 55,484,833 (GRCm39) C310* probably null Het
Lct T C 1: 128,212,932 (GRCm39) Y1907C probably damaging Het
Loxhd1 T C 18: 77,518,882 (GRCm39) V1896A possibly damaging Het
Lrfn4 C A 19: 4,663,679 (GRCm39) R285L probably damaging Het
Ltb4r2 T A 14: 56,000,338 (GRCm39) S320T probably damaging Het
Mmd G T 11: 90,148,378 (GRCm39) R20L probably damaging Het
Mmp1a TG TGG 9: 7,465,083 (GRCm38) probably null Het
Nbas T C 12: 13,608,661 (GRCm39) S2146P probably benign Het
Nop14 A G 5: 34,809,135 (GRCm39) F319L probably damaging Het
Numa1 C A 7: 101,648,630 (GRCm39) T787K probably benign Het
Or10q12 T G 19: 13,745,709 (GRCm39) M1R probably null Het
Or2t46 A C 11: 58,471,999 (GRCm39) T110P probably damaging Het
Or6c208 T G 10: 129,223,726 (GRCm39) C75G possibly damaging Het
Patj T C 4: 98,435,224 (GRCm39) V2A probably benign Het
Pisd T C 5: 32,898,032 (GRCm39) H52R probably benign Het
Plekhg6 A T 6: 125,340,631 (GRCm39) D576E probably benign Het
Ppp1r37 T A 7: 19,295,778 (GRCm39) I60F probably damaging Het
Ppp2r1b C T 9: 50,789,476 (GRCm39) T513M possibly damaging Het
Pramel32 A T 4: 88,548,279 (GRCm39) I42N probably damaging Het
Rhobtb2 C A 14: 70,034,386 (GRCm39) A280S probably damaging Het
Rnf40 A G 7: 127,189,047 (GRCm39) D140G probably benign Het
Rxfp1 A G 3: 79,555,397 (GRCm39) L653P probably damaging Het
Satb1 A T 17: 52,074,995 (GRCm39) D500E probably benign Het
Slc15a1 A T 14: 121,713,377 (GRCm39) D383E probably benign Het
Smarcad1 C A 6: 65,073,033 (GRCm39) S604R possibly damaging Het
St7 A G 6: 17,934,216 (GRCm39) T533A probably damaging Het
Sv2c T A 13: 96,122,451 (GRCm39) T442S probably benign Het
Tbx2 A G 11: 85,731,622 (GRCm39) T640A probably benign Het
Tenm4 T A 7: 96,542,221 (GRCm39) N1948K probably damaging Het
Tll1 T C 8: 64,551,268 (GRCm39) probably null Het
Tmem135 A T 7: 88,805,718 (GRCm39) probably null Het
Tonsl A T 15: 76,518,136 (GRCm39) L582Q probably null Het
Unc13c T A 9: 73,641,799 (GRCm39) K1231N probably damaging Het
Vmn2r101 T A 17: 19,832,192 (GRCm39) Y729* probably null Het
Zcchc2 A G 1: 105,928,742 (GRCm39) T334A possibly damaging Het
Zfp655 T C 5: 145,173,917 (GRCm39) L136P probably damaging Het
Zfp729a A T 13: 67,768,437 (GRCm39) C597* probably null Het
Other mutations in Plekhn1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Plekhn1 APN 4 156,307,820 (GRCm39) missense probably damaging 1.00
IGL00473:Plekhn1 APN 4 156,307,820 (GRCm39) missense probably damaging 1.00
IGL02104:Plekhn1 APN 4 156,306,865 (GRCm39) missense probably benign 0.25
IGL02122:Plekhn1 APN 4 156,308,313 (GRCm39) critical splice donor site probably null
IGL02210:Plekhn1 APN 4 156,308,106 (GRCm39) missense probably damaging 1.00
PIT4142001:Plekhn1 UTSW 4 156,309,397 (GRCm39) nonsense probably null
PIT4366001:Plekhn1 UTSW 4 156,309,268 (GRCm39) missense probably damaging 0.99
R0123:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0134:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0225:Plekhn1 UTSW 4 156,312,700 (GRCm39) missense probably benign 0.13
R0276:Plekhn1 UTSW 4 156,312,703 (GRCm39) missense probably damaging 0.99
R0282:Plekhn1 UTSW 4 156,312,780 (GRCm39) splice site probably benign
R0540:Plekhn1 UTSW 4 156,307,204 (GRCm39) missense possibly damaging 0.87
R0569:Plekhn1 UTSW 4 156,309,658 (GRCm39) missense probably damaging 1.00
R0656:Plekhn1 UTSW 4 156,309,821 (GRCm39) missense possibly damaging 0.55
R0798:Plekhn1 UTSW 4 156,312,720 (GRCm39) missense probably damaging 0.96
R0848:Plekhn1 UTSW 4 156,308,021 (GRCm39) critical splice donor site probably null
R1803:Plekhn1 UTSW 4 156,306,838 (GRCm39) missense probably benign 0.20
R2168:Plekhn1 UTSW 4 156,306,339 (GRCm39) missense probably damaging 0.99
R2356:Plekhn1 UTSW 4 156,307,158 (GRCm39) missense probably damaging 1.00
R2516:Plekhn1 UTSW 4 156,307,116 (GRCm39) missense probably damaging 1.00
R3746:Plekhn1 UTSW 4 156,310,051 (GRCm39) missense probably benign 0.00
R3818:Plekhn1 UTSW 4 156,309,990 (GRCm39) missense probably damaging 1.00
R3902:Plekhn1 UTSW 4 156,310,126 (GRCm39) missense possibly damaging 0.75
R4024:Plekhn1 UTSW 4 156,309,207 (GRCm39) missense probably damaging 1.00
R4057:Plekhn1 UTSW 4 156,309,150 (GRCm39) splice site probably null
R4176:Plekhn1 UTSW 4 156,306,258 (GRCm39) missense probably benign 0.02
R4402:Plekhn1 UTSW 4 156,309,813 (GRCm39) missense probably damaging 1.00
R4405:Plekhn1 UTSW 4 156,309,730 (GRCm39) splice site probably null
R4477:Plekhn1 UTSW 4 156,307,856 (GRCm39) missense probably damaging 1.00
R4515:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R4517:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R4518:Plekhn1 UTSW 4 156,309,988 (GRCm39) missense probably damaging 1.00
R5086:Plekhn1 UTSW 4 156,306,881 (GRCm39) missense probably benign 0.00
R5092:Plekhn1 UTSW 4 156,309,222 (GRCm39) missense possibly damaging 0.93
R5201:Plekhn1 UTSW 4 156,314,984 (GRCm39) missense probably benign 0.00
R5896:Plekhn1 UTSW 4 156,308,331 (GRCm39) missense probably benign 0.02
R5913:Plekhn1 UTSW 4 156,307,152 (GRCm39) missense probably damaging 1.00
R6124:Plekhn1 UTSW 4 156,309,696 (GRCm39) missense possibly damaging 0.87
R6244:Plekhn1 UTSW 4 156,315,015 (GRCm39) splice site probably null
R6263:Plekhn1 UTSW 4 156,309,650 (GRCm39) critical splice donor site probably null
R6430:Plekhn1 UTSW 4 156,306,261 (GRCm39) missense probably benign 0.00
R6703:Plekhn1 UTSW 4 156,309,250 (GRCm39) missense probably benign 0.00
R6723:Plekhn1 UTSW 4 156,309,026 (GRCm39) missense probably damaging 1.00
R6741:Plekhn1 UTSW 4 156,306,249 (GRCm39) missense probably damaging 0.98
R7057:Plekhn1 UTSW 4 156,318,374 (GRCm39) missense probably damaging 0.99
R7135:Plekhn1 UTSW 4 156,307,792 (GRCm39) missense probably benign 0.04
R7347:Plekhn1 UTSW 4 156,307,128 (GRCm39) missense probably benign 0.00
R7408:Plekhn1 UTSW 4 156,318,418 (GRCm39) missense probably benign 0.14
R7423:Plekhn1 UTSW 4 156,315,142 (GRCm39) missense probably benign 0.15
R7500:Plekhn1 UTSW 4 156,317,771 (GRCm39) missense probably benign 0.19
R7613:Plekhn1 UTSW 4 156,309,277 (GRCm39) missense probably benign 0.00
R7738:Plekhn1 UTSW 4 156,316,691 (GRCm39) missense probably damaging 1.00
R8065:Plekhn1 UTSW 4 156,312,697 (GRCm39) missense possibly damaging 0.75
R8067:Plekhn1 UTSW 4 156,312,697 (GRCm39) missense possibly damaging 0.75
R8744:Plekhn1 UTSW 4 156,318,364 (GRCm39) missense probably damaging 1.00
R8746:Plekhn1 UTSW 4 156,316,682 (GRCm39) missense probably damaging 1.00
R8839:Plekhn1 UTSW 4 156,307,046 (GRCm39) intron probably benign
R8841:Plekhn1 UTSW 4 156,316,655 (GRCm39) missense probably damaging 0.98
R8900:Plekhn1 UTSW 4 156,310,078 (GRCm39) missense possibly damaging 0.87
R9208:Plekhn1 UTSW 4 156,306,859 (GRCm39) missense possibly damaging 0.86
R9723:Plekhn1 UTSW 4 156,306,875 (GRCm39) missense probably benign 0.00
X0023:Plekhn1 UTSW 4 156,306,811 (GRCm39) missense possibly damaging 0.76
X0065:Plekhn1 UTSW 4 156,309,372 (GRCm39) critical splice donor site probably null
Z1176:Plekhn1 UTSW 4 156,307,888 (GRCm39) missense possibly damaging 0.47
Predicted Primers PCR Primer
(F):5'- GTTGGCTCCCACGTATTTGC -3'
(R):5'- AAGTTTATACCATAGAGCGCAGAG -3'

Sequencing Primer
(F):5'- CACGTATTTGCCGACTTGG -3'
(R):5'- CCACTTTTTATGTGACGAGGC -3'
Posted On 2019-10-24