Incidental Mutation 'R1027:Plekhh1'
ID 96888
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 039129-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R1027 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 79075937-79128429 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) T to C at 79101256 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000151747 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039928] [ENSMUST00000217954] [ENSMUST00000219956]
AlphaFold Q80TI1
Predicted Effect probably benign
Transcript: ENSMUST00000039928
SMART Domains Protein: ENSMUSP00000049460
Gene: ENSMUSG00000060716

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
Coding Region Coverage
  • 1x: 98.9%
  • 3x: 97.9%
  • 10x: 95.0%
  • 20x: 89.0%
Validation Efficiency 94% (31/33)
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts10 G T 17: 33,762,737 (GRCm39) R572L probably benign Het
Adamts16 A T 13: 70,915,921 (GRCm39) V838E probably damaging Het
Arfgef3 T C 10: 18,467,123 (GRCm39) R2026G probably benign Het
Arl16 G A 11: 120,356,522 (GRCm39) A159V probably benign Het
Astn1 G T 1: 158,407,849 (GRCm39) R602L probably damaging Het
Dennd1b T C 1: 138,969,700 (GRCm39) V72A probably damaging Het
Filip1l A G 16: 57,390,051 (GRCm39) E213G probably benign Het
Gm10985 A C 3: 53,752,674 (GRCm39) Y19S probably damaging Het
Gm4076 T C 13: 85,275,508 (GRCm39) noncoding transcript Het
Herc1 T C 9: 66,363,250 (GRCm39) V2691A probably benign Het
Hid1 A C 11: 115,246,251 (GRCm39) F340V probably damaging Het
Itga10 C T 3: 96,559,054 (GRCm39) probably benign Het
Kif16b T C 2: 142,696,458 (GRCm39) probably benign Het
Map9 A T 3: 82,284,401 (GRCm39) D325V probably damaging Het
Mtor A G 4: 148,624,456 (GRCm39) M2079V probably benign Het
Nop14 A G 5: 34,801,348 (GRCm39) S608P probably damaging Het
Or5p62 A T 7: 107,771,348 (GRCm39) V201D probably damaging Het
Pcm1 T C 8: 41,746,482 (GRCm39) probably benign Het
Pigs T C 11: 78,227,651 (GRCm39) S272P probably damaging Het
Prkdc A G 16: 15,468,576 (GRCm39) D129G possibly damaging Het
Rab33b T C 3: 51,391,876 (GRCm39) S42P probably damaging Het
Rnf214 C T 9: 45,811,187 (GRCm39) V159I probably benign Het
Sel1l3 A T 5: 53,302,820 (GRCm39) M683K possibly damaging Het
Sntb2 A G 8: 107,718,203 (GRCm39) K304E probably benign Het
Svep1 C A 4: 58,094,084 (GRCm39) S1518I possibly damaging Het
Tg T C 15: 66,544,258 (GRCm39) S76P possibly damaging Het
Ttn A G 2: 76,697,777 (GRCm39) probably benign Het
Zbtb12 CTTCAT CTTCATTCAT 17: 35,115,284 (GRCm39) probably null 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
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
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'- GCAGGGGTTGTGAAATGATACCGC -3'
(R):5'- AGGATGGACCATGCTGAAACGC -3'

Sequencing Primer
(F):5'- GTTGTGAAATGATACCGCATACG -3'
(R):5'- GCCACCTTCAAAATCTGGGTATG -3'
Posted On 2014-01-05