Incidental Mutation 'R5403:Pheta1'
ID 430098
Institutional Source Beutler Lab
Gene Symbol Pheta1
Ensembl Gene ENSMUSG00000044134
Gene Name PH domain containing endocytic trafficking adaptor 1
Synonyms A230106M15Rik, Fam109a, Ses1
MMRRC Submission 042974-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.104) question?
Stock # R5403 (G1)
Quality Score 168
Status Not validated
Chromosome 5
Chromosomal Location 121987060-121992667 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 121990794 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 52 (E52G)
Ref Sequence ENSEMBL: ENSMUSP00000143110 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056654] [ENSMUST00000111752] [ENSMUST00000198155] [ENSMUST00000198271]
AlphaFold Q8BH49
Predicted Effect possibly damaging
Transcript: ENSMUST00000056654
AA Change: E52G

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000062386
Gene: ENSMUSG00000044134
AA Change: E52G

DomainStartEndE-ValueType
PH 18 115 1.53e-18 SMART
low complexity region 134 145 N/A INTRINSIC
low complexity region 163 185 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000111752
SMART Domains Protein: ENSMUSP00000107381
Gene: ENSMUSG00000042589

DomainStartEndE-ValueType
coiled coil region 133 214 N/A INTRINSIC
coiled coil region 235 311 N/A INTRINSIC
low complexity region 373 394 N/A INTRINSIC
low complexity region 397 408 N/A INTRINSIC
low complexity region 459 474 N/A INTRINSIC
CUT 484 569 7.62e-34 SMART
coiled coil region 626 655 N/A INTRINSIC
low complexity region 688 696 N/A INTRINSIC
low complexity region 740 757 N/A INTRINSIC
CUT 829 917 6.52e-42 SMART
low complexity region 965 976 N/A INTRINSIC
CUT 984 1070 1.12e-40 SMART
HOX 1113 1175 7.54e-13 SMART
low complexity region 1318 1332 N/A INTRINSIC
low complexity region 1351 1370 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000197910
Predicted Effect probably benign
Transcript: ENSMUST00000198155
AA Change: E52G

PolyPhen 2 Score 0.198 (Sensitivity: 0.92; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000143324
Gene: ENSMUSG00000044134
AA Change: E52G

DomainStartEndE-ValueType
PH 18 103 4.5e-9 SMART
Predicted Effect possibly damaging
Transcript: ENSMUST00000198271
AA Change: E52G

PolyPhen 2 Score 0.534 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000143110
Gene: ENSMUSG00000044134
AA Change: E52G

DomainStartEndE-ValueType
PH 18 115 1.53e-18 SMART
low complexity region 134 145 N/A INTRINSIC
low complexity region 163 185 N/A INTRINSIC
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.4%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.7%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein that localizes to the endosome and interacts with the enzyme, inositol polyphosphate 5-phosphatase OCRL-1. Alternate splicing results in multiple transcript variants. [provided by RefSeq, May 2010]
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsbg3 G T 17: 57,183,221 (GRCm39) probably benign Het
Adamts6 A G 13: 104,489,323 (GRCm39) D392G possibly damaging Het
Adcy8 C T 15: 64,588,001 (GRCm39) V929I probably benign Het
Alkbh8 A G 9: 3,385,318 (GRCm39) K537E probably benign Het
Anp32a A T 9: 62,249,275 (GRCm39) I16F possibly damaging Het
Asb18 T C 1: 89,942,110 (GRCm39) T64A probably benign Het
Bpifb4 A T 2: 153,785,912 (GRCm39) I17F probably damaging Het
Brd7 G T 8: 89,084,169 (GRCm39) Q148K probably damaging Het
Brinp1 A G 4: 68,711,201 (GRCm39) W336R probably benign Het
Ccdc88b T A 19: 6,835,108 (GRCm39) T38S unknown Het
Cd46 C T 1: 194,744,719 (GRCm39) V340I possibly damaging Het
Cdr2 G A 7: 120,557,968 (GRCm39) Q186* probably null Het
Ces1e T G 8: 93,935,240 (GRCm39) D404A probably benign Het
Chd3 A T 11: 69,239,895 (GRCm39) probably null Het
Cmtm1 CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT CGGCACGTACTGAAGGTCGCTGACTGGATGGTGTGGCACGTACTGAAGGTCGCTGACTGGATGGT 8: 105,036,102 (GRCm39) probably benign Het
Cntnap3 G A 13: 64,909,792 (GRCm39) T771I possibly damaging Het
Cops8 C T 1: 90,534,342 (GRCm39) probably benign Het
Csmd2 C T 4: 128,380,677 (GRCm39) R2078C probably benign Het
Ddx50 A G 10: 62,482,809 (GRCm39) S87P probably benign Het
Dennd2b A G 7: 109,156,112 (GRCm39) S213P probably damaging Het
Dlg2 A G 7: 92,080,210 (GRCm39) T598A probably damaging Het
Dnah8 G A 17: 30,967,542 (GRCm39) D2585N probably benign Het
Epha6 A T 16: 59,595,933 (GRCm39) D919E probably damaging Het
Fndc9 C T 11: 46,128,541 (GRCm39) S20L probably benign Het
Gpx6 A G 13: 21,501,813 (GRCm39) E145G probably damaging Het
Hc A G 2: 34,947,446 (GRCm39) Y23H probably damaging Het
Insyn2b A T 11: 34,353,058 (GRCm39) T367S probably benign Het
Jmy G T 13: 93,577,904 (GRCm39) Q755K probably benign Het
Krtap4-7 A T 11: 99,534,540 (GRCm39) S108T unknown Het
Mgat5b T G 11: 116,839,483 (GRCm39) I333S probably benign Het
Mrtfb A G 16: 13,218,877 (GRCm39) T519A probably damaging Het
Naip6 G A 13: 100,436,585 (GRCm39) A646V probably benign Het
Opn4 T C 14: 34,314,894 (GRCm39) T460A probably benign Het
Or6b2 A T 1: 92,408,019 (GRCm39) V108E possibly damaging Het
Or8g22 G T 9: 38,957,999 (GRCm39) P239T probably damaging Het
Otogl T A 10: 107,644,617 (GRCm39) M1210L probably benign Het
Phf24 A T 4: 42,933,831 (GRCm39) probably null Het
Ppargc1a G A 5: 51,620,167 (GRCm39) probably benign Het
Ptprd G A 4: 75,872,405 (GRCm39) R1355* probably null Het
Rad50 A G 11: 53,586,108 (GRCm39) probably null Het
Robo4 CGG CG 9: 37,322,786 (GRCm39) probably null Het
Rsf1 GCG GCGACGGCGACG 7: 97,229,114 (GRCm39) probably benign Het
Tbcd C A 11: 121,451,569 (GRCm39) N546K probably damaging Het
Tenm4 A G 7: 96,538,034 (GRCm39) D1832G probably damaging Het
Tfap2e T C 4: 126,628,439 (GRCm39) I172M probably benign Het
Tnip2 A G 5: 34,671,108 (GRCm39) L45P probably damaging Het
Ttc3 T C 16: 94,260,703 (GRCm39) V1396A probably benign Het
Ube2o A T 11: 116,439,633 (GRCm39) I179N possibly damaging Het
Usp17le T C 7: 104,418,441 (GRCm39) I234V probably damaging Het
Zfp106 T C 2: 120,365,262 (GRCm39) T382A probably benign Het
Zfp607a A G 7: 27,578,744 (GRCm39) K605E possibly damaging Het
Zmynd10 T A 9: 107,427,785 (GRCm39) L363H possibly damaging Het
Other mutations in Pheta1
AlleleSourceChrCoordTypePredicted EffectPPH Score
R0725:Pheta1 UTSW 5 121,991,314 (GRCm39) missense probably benign 0.03
R2099:Pheta1 UTSW 5 121,991,349 (GRCm39) missense possibly damaging 0.93
R5287:Pheta1 UTSW 5 121,990,794 (GRCm39) missense possibly damaging 0.53
R7317:Pheta1 UTSW 5 121,991,336 (GRCm39) missense possibly damaging 0.53
R8814:Pheta1 UTSW 5 121,991,108 (GRCm39) missense probably benign 0.00
R9428:Pheta1 UTSW 5 121,991,147 (GRCm39) missense possibly damaging 0.58
R9491:Pheta1 UTSW 5 121,991,051 (GRCm39) missense probably benign 0.01
Z1176:Pheta1 UTSW 5 121,990,970 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CTAGTAGTAACATCTGCTCCCGC -3'
(R):5'- ACCACCAAGCGCAGATAGTG -3'

Sequencing Primer
(F):5'- AGGGGACAGGTTGCAGCTC -3'
(R):5'- CAGATAGTGGAAGCTGGCCC -3'
Posted On 2016-09-06