Incidental Mutation 'R0848:Plekhn1'
ID 77410
Institutional Source Beutler Lab
Gene Symbol Plekhn1
Ensembl Gene ENSMUSG00000078485
Gene Name pleckstrin homology domain containing, family N member 1
Synonyms
MMRRC Submission 039027-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.117) question?
Stock # R0848 (G1)
Quality Score 225
Status Not validated
Chromosome 4
Chromosomal Location 156305913-156312999 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to G at 156308021 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151311 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000105571] [ENSMUST00000105571] [ENSMUST00000105572] [ENSMUST00000217885] [ENSMUST00000218699]
AlphaFold Q8C886
Predicted Effect probably null
Transcript: ENSMUST00000105571
SMART Domains Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

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 null
Transcript: ENSMUST00000105571
SMART Domains Protein: ENSMUSP00000101196
Gene: ENSMUSG00000078485

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 null
Transcript: ENSMUST00000217885
Predicted Effect probably null
Transcript: ENSMUST00000218699
Predicted Effect noncoding transcript
Transcript: ENSMUST00000219227
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.3%
  • 20x: 94.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 70 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aass A T 6: 23,114,984 (GRCm39) H181Q probably damaging Het
Abca13 T A 11: 9,632,011 (GRCm39) L4977* probably null Het
Abca8a T A 11: 109,919,016 (GRCm39) Y1550F probably damaging Het
Actr2 C T 11: 20,022,584 (GRCm39) E296K probably benign Het
Agtpbp1 A T 13: 59,681,753 (GRCm39) probably benign Het
Anks1b A C 10: 89,906,987 (GRCm39) E268A probably damaging Het
C1rl A G 6: 124,485,465 (GRCm39) T279A probably benign Het
C5ar2 T C 7: 15,971,526 (GRCm39) T134A probably benign Het
Cdkl3 G A 11: 51,902,094 (GRCm39) R101Q probably damaging Het
Celsr2 A T 3: 108,321,654 (GRCm39) F386Y probably benign Het
Chd1 C T 17: 15,990,503 (GRCm39) P1685L probably damaging Het
Chrne G T 11: 70,506,239 (GRCm39) H402Q probably benign Het
Clvs1 A G 4: 9,282,003 (GRCm39) D149G possibly damaging Het
Cntnap5b T C 1: 100,182,888 (GRCm39) Y620H probably benign Het
Col6a1 A G 10: 76,549,458 (GRCm39) probably null Het
Cyp2d26 T A 15: 82,674,434 (GRCm39) I483F probably benign Het
Dlx6 C T 6: 6,863,665 (GRCm39) Q96* probably null Het
Dmac2l A T 12: 69,788,584 (GRCm39) H161L probably benign Het
Eif1a T A 18: 46,741,114 (GRCm39) N116K possibly damaging Het
Epb41l5 A T 1: 119,477,684 (GRCm39) C696S probably benign Het
Exoc7 A G 11: 116,186,074 (GRCm39) S376P possibly damaging Het
Fads1 C T 19: 10,160,429 (GRCm39) P5L probably benign Het
G3bp1 T C 11: 55,389,452 (GRCm39) F383L probably damaging Het
Gimap7 T C 6: 48,700,657 (GRCm39) I81T probably damaging Het
Gtf2a1l T C 17: 89,001,657 (GRCm39) V171A probably damaging Het
Hax1 A G 3: 89,902,940 (GRCm39) S253P probably damaging Het
Hsd3b5 A T 3: 98,526,671 (GRCm39) D258E probably damaging Het
Kcnb1 G T 2: 166,948,187 (GRCm39) F220L probably damaging Het
Kif1a T A 1: 92,947,620 (GRCm39) Y1708F probably damaging Het
Krt14 A T 11: 100,095,090 (GRCm39) I379N probably damaging Het
Lpxn A G 19: 12,781,401 (GRCm39) I40V probably benign Het
Lrp1 C T 10: 127,389,231 (GRCm39) probably null Het
Lyst G A 13: 13,809,515 (GRCm39) R395H probably benign Het
Mindy4 G A 6: 55,295,271 (GRCm39) W737* probably null Het
Mki67 C A 7: 135,302,772 (GRCm39) R754L probably benign Het
Morf4l1 A G 9: 89,982,502 (GRCm39) V144A probably benign Het
Mvb12a T C 8: 71,998,422 (GRCm39) S186P probably benign Het
Myrf G C 19: 10,195,526 (GRCm39) T428S probably benign Het
Nipal1 A G 5: 72,825,183 (GRCm39) N292S probably damaging Het
Nqo2 T G 13: 34,156,461 (GRCm39) probably null Het
Or14a256 T C 7: 86,264,848 (GRCm39) Y335C probably damaging Het
Or2d3b A G 7: 106,514,200 (GRCm39) K265R probably benign Het
Or5ak24 A T 2: 85,260,365 (GRCm39) N269K probably benign Het
Or6c214 C T 10: 129,591,077 (GRCm39) V81I probably benign Het
Osbpl7 C A 11: 96,951,350 (GRCm39) P507Q probably damaging Het
Pcdhb1 G A 18: 37,400,475 (GRCm39) G809S probably benign Het
Pcm1 T C 8: 41,735,720 (GRCm39) V846A probably damaging Het
Phf3 A G 1: 30,902,253 (GRCm39) L20P probably damaging Het
Pih1d1 A G 7: 44,807,041 (GRCm39) T58A probably damaging Het
Plvap A T 8: 71,959,526 (GRCm39) L422Q probably damaging Het
Polq C T 16: 36,882,492 (GRCm39) A1273V probably benign Het
Prelid2 T A 18: 42,068,289 (GRCm39) I51F probably damaging Het
Ptpn18 G A 1: 34,501,783 (GRCm39) D8N probably damaging Het
Ptpra T A 2: 130,360,911 (GRCm39) F190Y probably damaging Het
Pus7l A G 15: 94,438,393 (GRCm39) S151P probably benign Het
Rsph6a G A 7: 18,791,595 (GRCm39) D255N probably benign Het
Serpinb6c A T 13: 34,083,288 (GRCm39) V42D probably damaging Het
Slc7a13 A G 4: 19,818,866 (GRCm39) N22S probably benign Het
Snx5 G A 2: 144,095,726 (GRCm39) R312C probably damaging Het
Stard9 T C 2: 120,526,304 (GRCm39) S854P probably damaging Het
Syne2 AAGAG AAGAGAGAG 12: 76,144,733 (GRCm39) probably null Het
Syne2 AGAGTGAG AGAGTGAGTGAG 12: 76,144,734 (GRCm39) probably null Het
Tlr12 A G 4: 128,510,084 (GRCm39) I722T probably benign Het
Tmem101 A T 11: 102,046,692 (GRCm39) M59K possibly damaging Het
Trim34a C T 7: 103,910,331 (GRCm39) R378C probably benign Het
Trim35 T A 14: 66,546,574 (GRCm39) M447K probably benign Het
Trps1 C A 15: 50,524,945 (GRCm39) S704I possibly damaging Het
Vmn1r231 T A 17: 21,110,433 (GRCm39) S161C probably damaging Het
Vps13a A C 19: 16,676,261 (GRCm39) N1237K probably damaging Het
Zfp619 G T 7: 39,185,983 (GRCm39) C671F probably damaging 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
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
R7626:Plekhn1 UTSW 4 156,310,110 (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'- CTCCGTCCATTGGAAGAGAGTGAAC -3'
(R):5'- ACCGAGAACTAGCCACTGCTTGAC -3'

Sequencing Primer
(F):5'- AGTGAACCTCGGCCTCTAC -3'
(R):5'- GAGATGTACTTGTCCTGTCAGACC -3'
Posted On 2013-10-16