Incidental Mutation 'R4824:Plekhh1'
ID 374251
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 042440-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R4824 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 79075937-79128429 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 79101577 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 216 (T216A)
Ref Sequence ENSEMBL: ENSMUSP00000151747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000217954] [ENSMUST00000219956]
AlphaFold Q80TI1
Predicted Effect probably benign
Transcript: ENSMUST00000039928
AA Change: T216A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716
AA Change: T216A

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: ENSMUST00000217954
Predicted Effect probably benign
Transcript: ENSMUST00000219956
AA Change: T216A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.5%
  • 10x: 96.8%
  • 20x: 94.0%
Validation Efficiency 98% (123/126)
Allele List at MGI
Other mutations in this stock
Total: 107 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110002E22Rik A G 3: 137,771,437 (GRCm39) T209A probably benign Het
1700086D15Rik T C 11: 65,043,441 (GRCm39) probably benign Het
A130010J15Rik G A 1: 192,856,965 (GRCm39) V106I probably benign Het
Abca16 C A 7: 120,074,702 (GRCm39) N580K possibly damaging Het
Actrt2 A T 4: 154,751,344 (GRCm39) F264Y probably damaging Het
Adh4 G A 3: 138,134,807 (GRCm39) S327N possibly damaging Het
Alkbh5 T C 11: 60,444,697 (GRCm39) probably null Het
Anapc1 T A 2: 128,470,610 (GRCm39) T1507S possibly damaging Het
Anapc2 A G 2: 25,167,764 (GRCm39) R444G probably damaging Het
Apoh G T 11: 108,305,087 (GRCm39) W335L probably benign Het
B4galt7 A T 13: 55,752,162 (GRCm39) H71L possibly damaging Het
Bicd2 A G 13: 49,532,488 (GRCm39) E358G probably damaging Het
Bmper T A 9: 23,134,956 (GRCm39) V7D possibly damaging Het
Brca2 T C 5: 150,463,200 (GRCm39) F988S probably damaging Het
Brix1 A G 15: 10,485,828 (GRCm39) V49A possibly damaging Het
Brpf3 T C 17: 29,025,460 (GRCm39) S178P probably benign Het
Btaf1 A G 19: 36,958,448 (GRCm39) Y655C possibly damaging Het
C1rl C G 6: 124,486,040 (GRCm39) Y470* probably null Het
Cacnb4 A G 2: 52,565,822 (GRCm39) V21A probably benign Het
Caskin1 C A 17: 24,720,103 (GRCm39) P437T probably benign Het
Casz1 C A 4: 149,029,028 (GRCm39) P1158T probably damaging Het
Ccdc141 T A 2: 76,954,680 (GRCm39) Q189L probably damaging Het
Ccr3 T C 9: 123,828,809 (GRCm39) V48A probably damaging Het
Cebpd G A 16: 15,705,978 (GRCm39) G264S probably benign Het
Cert1 C T 13: 96,752,995 (GRCm39) P350S probably benign Het
Cfap20dc A T 14: 8,665,997 (GRCm38) M1K probably null Het
Chd1 C A 17: 15,953,386 (GRCm39) S440R probably damaging Het
Clip1 T A 5: 123,769,086 (GRCm39) E504D probably damaging Het
Cmya5 T C 13: 93,230,082 (GRCm39) R1669G probably benign Het
Col11a2 T A 17: 34,269,937 (GRCm39) F456I probably damaging Het
Ctnna2 A T 6: 76,957,764 (GRCm39) M130K probably damaging Het
Elmo2 A T 2: 165,133,922 (GRCm39) probably benign Het
F11 T C 8: 45,708,379 (GRCm39) D27G probably damaging Het
Faap100 A T 11: 120,266,412 (GRCm39) probably null Het
Fat1 A G 8: 45,442,151 (GRCm39) E1151G probably damaging Het
Fbll1 T A 11: 35,688,652 (GRCm39) I204F probably damaging Het
Gle1 T A 2: 29,830,215 (GRCm39) V257D possibly damaging Het
Hoxc9 T A 15: 102,890,225 (GRCm39) C47* probably null Het
Hsd17b6 A G 10: 127,829,524 (GRCm39) V226A probably benign Het
Hsd17b7 C T 1: 169,788,764 (GRCm39) R151Q probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Ido2 A G 8: 25,023,875 (GRCm39) I321T probably benign Het
Irf2bp2 T C 8: 127,318,172 (GRCm39) T465A probably benign Het
Kdm2a A G 19: 4,412,815 (GRCm39) M34T probably damaging Het
Klhl6 C T 16: 19,775,778 (GRCm39) R260H probably damaging Het
Kntc1 T A 5: 123,928,196 (GRCm39) L1231* probably null Het
Lca5l A C 16: 95,963,229 (GRCm39) Y412* probably null Het
Lipt1 T C 1: 37,914,513 (GRCm39) S190P possibly damaging Het
Ly6f T A 15: 75,143,569 (GRCm39) V92D probably damaging Het
Matn4 T A 2: 164,235,151 (GRCm39) M433L probably benign Het
Mbtd1 C A 11: 93,816,528 (GRCm39) P370T probably benign Het
Mcph1 T A 8: 18,682,703 (GRCm39) probably null Het
Muc5b T A 7: 141,417,922 (GRCm39) C3623S probably damaging Het
Myt1l C A 12: 29,899,399 (GRCm39) H134N probably benign Het
Nav2 A T 7: 49,058,749 (GRCm39) probably benign Het
Ndufaf8 T C 11: 119,989,992 (GRCm39) C35R probably damaging Het
Neb G A 2: 52,094,891 (GRCm39) T5130I possibly damaging Het
Nlrp9c T C 7: 26,079,989 (GRCm39) N624S possibly damaging Het
Nr0b2 C A 4: 133,283,334 (GRCm39) H190Q probably damaging Het
Nrg4 A G 9: 55,156,405 (GRCm39) probably benign Het
Nup88 A T 11: 70,852,450 (GRCm39) V215E probably benign Het
Oas2 T G 5: 120,876,411 (GRCm39) T511P probably benign Het
Or1e25 A G 11: 73,493,426 (GRCm39) T7A possibly damaging Het
Or2t6 A G 14: 14,175,885 (GRCm38) S66P probably damaging Het
Or5d14 A C 2: 87,880,432 (GRCm39) F179V probably damaging Het
Or5w8 T C 2: 87,687,621 (GRCm39) V34A probably benign Het
Or8g26 A G 9: 39,095,501 (GRCm39) N9S probably benign Het
Or9q1 A C 19: 13,805,718 (GRCm39) L14R probably damaging Het
Pcdhgb2 T A 18: 37,823,502 (GRCm39) N164K probably damaging Het
Pde4d C G 13: 109,253,400 (GRCm39) P76A probably benign Het
Phlda1 T C 10: 111,343,516 (GRCm39) probably benign Het
Plppr3 T A 10: 79,701,507 (GRCm39) E445V possibly damaging Het
Prom1 A G 5: 44,191,732 (GRCm39) V337A probably damaging Het
Prr14l T C 5: 33,001,743 (GRCm39) probably benign Het
Psmd1 A G 1: 86,064,820 (GRCm39) I951V probably benign Het
Rab35 T G 5: 115,781,454 (GRCm39) I85M possibly damaging Het
Rad9a A T 19: 4,250,536 (GRCm39) S93T probably benign Het
Ric1 G A 19: 29,563,242 (GRCm39) C555Y probably damaging Het
Rnd2 C T 11: 101,359,825 (GRCm39) L57F probably damaging Het
Ror2 T A 13: 53,264,719 (GRCm39) Q791L probably benign Het
Rps8 G C 4: 117,012,352 (GRCm39) probably benign Het
Sdr16c5 C T 4: 4,016,216 (GRCm39) W70* probably null Het
Senp3 A G 11: 69,568,821 (GRCm39) V408A probably benign Het
Sh2d4b C A 14: 40,562,301 (GRCm39) W288L probably benign Het
Slc38a9 A T 13: 112,859,832 (GRCm39) D422V probably damaging Het
Slc4a2 T C 5: 24,645,141 (GRCm39) F1104L probably damaging Het
Slc4a3 A G 1: 75,527,267 (GRCm39) K113E possibly damaging Het
Spata3 G A 1: 85,952,048 (GRCm39) probably null Het
Spata31d1d A T 13: 59,877,055 (GRCm39) V160E possibly damaging Het
Sprr2f A G 3: 92,273,203 (GRCm39) M1V probably null Het
Sptbn1 A G 11: 30,068,295 (GRCm39) V1733A possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tardbp A G 4: 148,702,050 (GRCm39) I295T probably benign Het
Tmem212 A G 3: 27,939,157 (GRCm39) S110P probably damaging Het
Tnc G A 4: 63,935,857 (GRCm39) Q360* probably null Het
Tnrc6c C A 11: 117,613,731 (GRCm39) Q630K probably damaging Het
Ttc19 G A 11: 62,199,922 (GRCm39) R235H probably benign Het
Ube3b T A 5: 114,553,787 (GRCm39) probably null Het
Vmn2r31 C T 7: 7,390,062 (GRCm39) probably null Het
Vmn2r92 T A 17: 18,372,183 (GRCm39) probably benign Het
Washc5 A T 15: 59,205,485 (GRCm39) Y685* probably null Het
Wdr93 T A 7: 79,399,817 (GRCm39) Y135* probably null Het
Wdr95 T A 5: 149,518,797 (GRCm39) I546K probably damaging Het
Zbtb38 T A 9: 96,570,254 (GRCm39) T277S probably benign Het
Zfp13 T C 17: 23,795,797 (GRCm39) D258G possibly damaging Het
Zfp397 T A 18: 24,093,249 (GRCm39) S245T probably benign Het
Zfp646 T C 7: 127,482,907 (GRCm39) Y1695H 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
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
R7103:Plekhh1 UTSW 12 79,113,429 (GRCm39) missense probably benign 0.01
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'- ACATTCTCACTGGATGTGCCTG -3'
(R):5'- GAGCAGTGACCAGACTTTCTC -3'

Sequencing Primer
(F):5'- GGTTGTGCCTCATTCACAGATC -3'
(R):5'- GACCAGACTTTCTCTGTAAGAGGC -3'
Posted On 2016-03-01