Incidental Mutation 'R7525:Plekhh3'
ID582937
Institutional Source Beutler Lab
Gene Symbol Plekhh3
Ensembl Gene ENSMUSG00000035172
Gene Namepleckstrin homology domain containing, family H (with MyTH4 domain) member 3
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.113) question?
Stock #R7525 (G1)
Quality Score219.009
Status Validated
Chromosome11
Chromosomal Location101162679-101171351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 101166619 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Leucine at position 271 (F271L)
Ref Sequence ENSEMBL: ENSMUSP00000046044 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043397] [ENSMUST00000043654] [ENSMUST00000123864] [ENSMUST00000129895] [ENSMUST00000164474]
Predicted Effect probably damaging
Transcript: ENSMUST00000043397
AA Change: F271L

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000046044
Gene: ENSMUSG00000035172
AA Change: F271L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 285 398 4.2e-21 PFAM
B41 400 664 2.91e-4 SMART
low complexity region 750 766 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000043654
SMART Domains Protein: ENSMUSP00000045901
Gene: ENSMUSG00000045007

DomainStartEndE-ValueType
Tubulin 48 247 1.11e-58 SMART
Tubulin_C 249 393 4.52e-27 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000123864
SMART Domains Protein: ENSMUSP00000120865
Gene: ENSMUSG00000035172

DomainStartEndE-ValueType
PH 95 200 1.9e-5 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000129895
AA Change: F271L

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000137841
Gene: ENSMUSG00000035172
AA Change: F271L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 281 399 2.7e-16 PFAM
B41 400 664 5.17e-4 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000139200
Predicted Effect probably damaging
Transcript: ENSMUST00000164474
AA Change: F271L

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127088
Gene: ENSMUSG00000035172
AA Change: F271L

DomainStartEndE-ValueType
signal peptide 1 18 N/A INTRINSIC
low complexity region 23 40 N/A INTRINSIC
PH 96 201 1.9e-5 SMART
low complexity region 241 251 N/A INTRINSIC
Pfam:MyTH4 281 399 3.3e-16 PFAM
B41 400 661 6.14e-4 SMART
low complexity region 747 763 N/A INTRINSIC
Meta Mutation Damage Score 0.4856 question?
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency 100% (63/63)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2900026A02Rik T C 5: 113,183,355 T998A probably damaging Het
AI314180 A G 4: 58,847,038 I508T possibly damaging Het
Akap9 C G 5: 3,968,745 H1109D probably benign Het
Akt3 T A 1: 177,020,107 K465* probably null Het
Ankar T C 1: 72,688,641 D371G probably benign Het
Ankib1 T G 5: 3,755,734 N178H possibly damaging Het
Arhgap10 A G 8: 77,420,070 probably null Het
Arhgef4 A G 1: 34,809,704 D286G probably damaging Het
Bsdc1 A T 4: 129,461,684 probably benign Het
Camk4 T C 18: 33,185,032 V414A probably benign Het
Cyp2d9 T A 15: 82,454,092 V139E possibly damaging Het
Dhrs13 C A 11: 78,032,434 N21K unknown Het
Dopey1 C T 9: 86,506,290 A439V probably damaging Het
Dpy19l4 G A 4: 11,317,160 Q13* probably null Het
Eif2ak1 T C 5: 143,886,898 S388P probably damaging Het
Emilin2 T C 17: 71,274,979 S251G probably benign Het
Eml4 T A 17: 83,445,950 L350Q probably damaging Het
Fblim1 A T 4: 141,590,080 L98H probably damaging Het
Fcrl6 T A 1: 172,597,672 N264I probably benign Het
Gm13124 A G 4: 144,565,010 F42S probably damaging Het
Gzme A C 14: 56,119,333 D57E probably benign Het
H2-D1 A G 17: 35,265,933 T257A probably damaging Het
Hectd4 C A 5: 121,343,665 D3092E possibly damaging Het
Hrc A G 7: 45,336,379 E318G probably benign Het
Hspbp1 A G 7: 4,663,436 L315P probably damaging Het
Insr A T 8: 3,192,642 Y591N probably damaging Het
Lrch4 T A 5: 137,639,465 I582N probably damaging Het
Lrit2 A G 14: 37,072,493 K505E possibly damaging Het
Lrp1b A T 2: 40,657,416 N4251K Het
Mfsd13a T C 19: 46,369,277 F290S probably damaging Het
Mgam T G 6: 40,766,020 N1791K probably benign Het
Mroh7 A T 4: 106,709,702 I450N probably benign Het
Mylk G A 16: 34,988,987 M1771I probably benign Het
Olfr1335 A T 4: 118,809,494 F123L probably damaging Het
Olfr26 A T 9: 38,855,238 M59L possibly damaging Het
Olfr612 A T 7: 103,539,131 C34* probably null Het
Olfr972 T A 9: 39,874,139 L288* probably null Het
Parp14 A T 16: 35,857,491 H702Q probably benign Het
Pcdhga1 T C 18: 37,662,228 L95P probably damaging Het
Pcsk5 T C 19: 17,642,590 T373A probably damaging Het
Pdzph1 A G 17: 58,967,341 V836A possibly damaging Het
Pgap1 T A 1: 54,530,922 N322I probably benign Het
Pikfyve C T 1: 65,244,426 R741* probably null Het
Pip4k2c A G 10: 127,208,904 S80P probably damaging Het
Prkdc A T 16: 15,672,327 Y565F probably damaging Het
Prom2 T C 2: 127,532,781 R612G probably benign Het
Psap T C 10: 60,299,474 V303A probably benign Het
Ptch1 C T 13: 63,511,714 R1375H probably benign Het
Slc24a3 A C 2: 145,613,530 K446N probably benign Het
Slc39a12 T A 2: 14,494,461 M661K probably benign Het
Slc6a16 T C 7: 45,259,113 L39P probably benign Het
Syne1 T G 10: 5,185,559 probably null Het
Taar8c T C 10: 24,101,866 N16S probably benign Het
Tmem98 A G 11: 80,817,518 T105A probably damaging Het
Tmub1 T A 5: 24,446,013 Y216F probably damaging Het
Trim16 T G 11: 62,820,754 C84G probably damaging Het
Ttn T A 2: 76,731,229 K28978* probably null Het
Usp38 A G 8: 81,014,246 V64A probably damaging Het
Vmn2r63 A T 7: 42,926,982 F469Y possibly damaging Het
Vmn2r74 A G 7: 85,961,302 W61R probably benign Het
Whamm G T 7: 81,593,850 G607C probably damaging Het
Xkr6 G T 14: 63,819,161 V430F probably benign Het
Zfp398 A G 6: 47,865,818 D268G probably benign Het
Other mutations in Plekhh3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00500:Plekhh3 APN 11 101165693 critical splice acceptor site probably null
R0139:Plekhh3 UTSW 11 101163675 unclassified probably benign
R0385:Plekhh3 UTSW 11 101165141 missense probably damaging 1.00
R0559:Plekhh3 UTSW 11 101164766 missense possibly damaging 0.86
R1839:Plekhh3 UTSW 11 101163600 unclassified probably benign
R2845:Plekhh3 UTSW 11 101170230 intron probably benign
R3110:Plekhh3 UTSW 11 101164147 unclassified probably benign
R3111:Plekhh3 UTSW 11 101164147 unclassified probably benign
R3112:Plekhh3 UTSW 11 101164147 unclassified probably benign
R4882:Plekhh3 UTSW 11 101165183 missense probably damaging 0.96
R4882:Plekhh3 UTSW 11 101167938 missense probably null 1.00
R5290:Plekhh3 UTSW 11 101166571 missense possibly damaging 0.61
R5328:Plekhh3 UTSW 11 101167658 intron probably benign
R6008:Plekhh3 UTSW 11 101164765 missense possibly damaging 0.86
R6028:Plekhh3 UTSW 11 101166570 missense probably damaging 1.00
R6156:Plekhh3 UTSW 11 101170187 intron probably benign
R6952:Plekhh3 UTSW 11 101165656 missense probably damaging 1.00
R6994:Plekhh3 UTSW 11 101165693 critical splice acceptor site probably null
R7120:Plekhh3 UTSW 11 101168238 missense probably damaging 0.96
R7324:Plekhh3 UTSW 11 101170774 missense possibly damaging 0.94
R7487:Plekhh3 UTSW 11 101165579 missense possibly damaging 0.94
R7637:Plekhh3 UTSW 11 101164327 missense unknown
Predicted Primers PCR Primer
(F):5'- TGCAGGATCTTGAGTGGCAG -3'
(R):5'- TTACTCGGAAAGGCTAAGCAGG -3'

Sequencing Primer
(F):5'- ATCTTGAGTGGCAGGGAGC -3'
(R):5'- GTCTGTGGACCATTGCTTTTC -3'
Posted On2019-10-17