Incidental Mutation 'R7103:Plekhh1'
ID 551007
Institutional Source Beutler Lab
Gene Symbol Plekhh1
Ensembl Gene ENSMUSG00000060716
Gene Name pleckstrin homology domain containing, family H (with MyTH4 domain) member 1
Synonyms D630024D12Rik
MMRRC Submission 045195-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R7103 (G1)
Quality Score 225.009
Status Validated
Chromosome 12
Chromosomal Location 79075937-79128429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79113429 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 619 (D619G)
Ref Sequence ENSEMBL: ENSMUSP00000049460 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000219956]
AlphaFold Q80TI1
Predicted Effect probably benign
Transcript: ENSMUST00000039928
AA Change: D619G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
SMART Domains Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: D619G

DomainStartEndE-ValueType
coiled coil region 26 172 N/A INTRINSIC
low complexity region 363 379 N/A INTRINSIC
low complexity region 489 500 N/A INTRINSIC
PH 573 668 1.15e-22 SMART
PH 682 792 3.23e-8 SMART
MyTH4 826 980 3e-48 SMART
B41 987 1224 6.07e-22 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000219956
AA Change: D619G

PolyPhen 2 Score 0.011 (Sensitivity: 0.96; Specificity: 0.78)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 100.0%
  • 10x: 99.8%
  • 20x: 99.3%
Validation Efficiency 98% (61/62)
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts2 A G 11: 50,628,181 (GRCm39) T294A probably damaging Het
Adamtsl2 G A 2: 26,997,473 (GRCm39) V893I probably damaging Het
Amph T A 13: 19,333,908 (GRCm39) D656E probably benign Het
Aoah T C 13: 21,207,485 (GRCm39) F568S probably damaging Het
Atr G A 9: 95,747,425 (GRCm39) G236S probably damaging Het
Brd3 T A 2: 27,340,406 (GRCm39) Q601L probably damaging Het
Ccar2 T C 14: 70,379,426 (GRCm39) E524G probably damaging Het
Cog2 T C 8: 125,267,853 (GRCm39) probably null Het
Csnka2ip C A 16: 64,299,120 (GRCm39) V415F unknown Het
Dmp1 A T 5: 104,359,729 (GRCm39) D135V probably damaging Het
Dtna T C 18: 23,786,436 (GRCm39) probably null Het
Endou A G 15: 97,616,810 (GRCm39) S238P probably damaging Het
Ep400 T A 5: 110,881,651 (GRCm39) E779D unknown Het
Fcgbp A G 7: 27,784,387 (GRCm39) E149G probably benign Het
G6pc1 C A 11: 101,265,413 (GRCm39) probably null Het
Gmeb1 T C 4: 131,962,179 (GRCm39) H160R probably damaging Het
Gramd1b T C 9: 40,312,902 (GRCm39) Y22C unknown Het
Hcrtr2 C T 9: 76,161,793 (GRCm39) G199D probably benign Het
Hoxb2 T C 11: 96,244,447 (GRCm39) F353L possibly damaging Het
Itpr2 C A 6: 146,226,572 (GRCm39) V1391F probably damaging Het
Jakmip2 T A 18: 43,673,648 (GRCm39) probably null Het
Kcnmb4 T C 10: 116,309,164 (GRCm39) Y88C possibly damaging Het
Kif1a T C 1: 93,005,507 (GRCm39) Y89C probably damaging Het
Kif23 T A 9: 61,827,174 (GRCm39) K892N probably damaging Het
Lama3 T A 18: 12,664,936 (GRCm39) S646T probably benign Het
Lig3 T A 11: 82,688,138 (GRCm39) M709K probably benign Het
Mindy3 C A 2: 12,405,885 (GRCm39) A137S possibly damaging Het
Mis18bp1 T C 12: 65,196,057 (GRCm39) E569G possibly damaging Het
Misp T A 10: 79,662,999 (GRCm39) L472Q probably damaging Het
Mrps5 A T 2: 127,443,330 (GRCm39) T303S probably damaging Het
Msh3 T G 13: 92,411,308 (GRCm39) I630L probably benign Het
Muc21 C A 17: 35,932,432 (GRCm39) A585S unknown Het
Myo16 A G 8: 10,619,673 (GRCm39) Y1408C unknown Het
N4bp2 T C 5: 65,964,189 (GRCm39) V746A probably benign Het
Oga G A 19: 45,771,605 (GRCm39) probably benign Het
Or4c120 A G 2: 89,000,827 (GRCm39) I243T possibly damaging Het
Or4d11 A G 19: 12,013,752 (GRCm39) M118T probably damaging Het
Or5p56 A G 7: 107,589,805 (GRCm39) T78A possibly damaging Het
Ostf1 C T 19: 18,573,715 (GRCm39) M44I probably null Het
Pik3c2b T G 1: 133,033,712 (GRCm39) L1572R probably damaging Het
Pilra T C 5: 137,829,488 (GRCm39) D192G possibly damaging Het
Pkhd1l1 A G 15: 44,437,027 (GRCm39) I3462V probably benign Het
Pramel31 C T 4: 144,090,297 (GRCm39) R446C probably benign Het
Ptprb T A 10: 116,174,718 (GRCm39) Y797N probably damaging Het
Rb1 T C 14: 73,500,084 (GRCm39) D521G probably damaging Het
Rnf17 T G 14: 56,708,763 (GRCm39) F728V possibly damaging Het
Slc16a4 T C 3: 107,218,787 (GRCm39) S463P probably damaging Het
Slc4a1 A T 11: 102,244,693 (GRCm39) I634K probably damaging Het
Slc4a1ap T C 5: 31,701,201 (GRCm39) V634A probably benign Het
Spam1 A G 6: 24,800,583 (GRCm39) M441V probably benign Het
Teddm3 A C 16: 20,971,729 (GRCm39) L280* probably null Het
Tmem231 T C 8: 112,645,517 (GRCm39) probably null Het
Tom1l1 T C 11: 90,561,907 (GRCm39) probably null Het
Topors C T 4: 40,261,706 (GRCm39) G526D probably benign Het
Trpm6 A T 19: 18,790,911 (GRCm39) I649F possibly damaging Het
Ttc16 T A 2: 32,664,440 (GRCm39) M66L probably benign Het
Tubgcp6 A G 15: 88,985,232 (GRCm39) F1619L probably damaging Het
Vps13d G T 4: 144,842,062 (GRCm39) A2619E Het
Vps8 G A 16: 21,345,191 (GRCm39) R838H probably damaging Het
Vwde T A 6: 13,215,799 (GRCm39) M86L probably benign Het
Zfp64 A T 2: 168,768,357 (GRCm39) D418E probably benign Het
Zfp952 C T 17: 33,222,606 (GRCm39) P362S possibly damaging Het
Zglp1 T C 9: 20,977,368 (GRCm39) E149G probably benign Het
Other mutations in Plekhh1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01707:Plekhh1 APN 12 79,125,738 (GRCm39) missense probably benign 0.35
IGL01764:Plekhh1 APN 12 79,101,679 (GRCm39) missense probably benign 0.00
IGL01922:Plekhh1 APN 12 79,126,353 (GRCm39) missense probably benign
IGL02187:Plekhh1 APN 12 79,119,592 (GRCm39) missense probably damaging 1.00
IGL02406:Plekhh1 APN 12 79,115,783 (GRCm39) splice site probably benign
IGL02581:Plekhh1 APN 12 79,125,882 (GRCm39) critical splice donor site probably null
IGL03201:Plekhh1 APN 12 79,100,430 (GRCm39) missense probably damaging 1.00
R0088:Plekhh1 UTSW 12 79,102,140 (GRCm39) missense probably benign 0.00
R0626:Plekhh1 UTSW 12 79,087,359 (GRCm39) nonsense probably null
R0662:Plekhh1 UTSW 12 79,125,767 (GRCm39) missense probably benign 0.09
R0666:Plekhh1 UTSW 12 79,115,889 (GRCm39) missense probably damaging 0.99
R0966:Plekhh1 UTSW 12 79,112,504 (GRCm39) missense probably damaging 1.00
R1027:Plekhh1 UTSW 12 79,101,256 (GRCm39) splice site probably benign
R1507:Plekhh1 UTSW 12 79,126,224 (GRCm39) missense probably damaging 1.00
R1562:Plekhh1 UTSW 12 79,123,482 (GRCm39) missense probably benign 0.00
R1759:Plekhh1 UTSW 12 79,119,535 (GRCm39) missense probably damaging 1.00
R1839:Plekhh1 UTSW 12 79,125,731 (GRCm39) splice site probably benign
R2125:Plekhh1 UTSW 12 79,125,774 (GRCm39) missense probably damaging 1.00
R2345:Plekhh1 UTSW 12 79,100,421 (GRCm39) missense probably damaging 1.00
R3895:Plekhh1 UTSW 12 79,102,006 (GRCm39) missense probably benign
R3927:Plekhh1 UTSW 12 79,100,422 (GRCm39) missense probably damaging 1.00
R4039:Plekhh1 UTSW 12 79,101,957 (GRCm39) missense probably benign 0.01
R4720:Plekhh1 UTSW 12 79,122,194 (GRCm39) frame shift probably null
R4721:Plekhh1 UTSW 12 79,122,194 (GRCm39) frame shift probably null
R4824:Plekhh1 UTSW 12 79,101,577 (GRCm39) missense probably benign
R4869:Plekhh1 UTSW 12 79,097,160 (GRCm39) missense probably benign
R5114:Plekhh1 UTSW 12 79,115,880 (GRCm39) missense probably benign 0.00
R5809:Plekhh1 UTSW 12 79,125,461 (GRCm39) missense probably benign 0.26
R6540:Plekhh1 UTSW 12 79,111,263 (GRCm39) missense probably benign 0.14
R6977:Plekhh1 UTSW 12 79,112,491 (GRCm39) missense probably damaging 1.00
R7058:Plekhh1 UTSW 12 79,122,204 (GRCm39) missense probably damaging 1.00
R7120:Plekhh1 UTSW 12 79,117,713 (GRCm39) missense probably benign 0.03
R7134:Plekhh1 UTSW 12 79,109,390 (GRCm39) missense probably benign 0.00
R7209:Plekhh1 UTSW 12 79,097,150 (GRCm39) missense probably benign 0.04
R7403:Plekhh1 UTSW 12 79,087,351 (GRCm39) nonsense probably null
R7405:Plekhh1 UTSW 12 79,101,821 (GRCm39) missense probably benign 0.00
R7449:Plekhh1 UTSW 12 79,126,326 (GRCm39) missense probably benign 0.00
R7594:Plekhh1 UTSW 12 79,123,277 (GRCm39) missense possibly damaging 0.89
R7648:Plekhh1 UTSW 12 79,101,905 (GRCm39) missense probably benign 0.20
R7756:Plekhh1 UTSW 12 79,117,578 (GRCm39) missense probably benign 0.15
R7758:Plekhh1 UTSW 12 79,117,578 (GRCm39) missense probably benign 0.15
R8033:Plekhh1 UTSW 12 79,117,710 (GRCm39) missense probably benign 0.23
R8153:Plekhh1 UTSW 12 79,125,812 (GRCm39) missense probably benign 0.00
R8243:Plekhh1 UTSW 12 79,125,843 (GRCm39) missense probably benign
R8728:Plekhh1 UTSW 12 79,115,862 (GRCm39) missense possibly damaging 0.90
R8992:Plekhh1 UTSW 12 79,122,307 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- ACTAGGAGTGCTTTATAGATGGGC -3'
(R):5'- CCTGGTATGATATCATCCATTCGTG -3'

Sequencing Primer
(F):5'- GCTTTATAGATGGGCTTCTAATCCAG -3'
(R):5'- ATCATCCATTCGTGTTTATTTTTGC -3'
Posted On 2019-05-15