Incidental Mutation 'R8201:Entrep3'
ID 635660
Institutional Source Beutler Lab
Gene Symbol Entrep3
Ensembl Gene ENSMUSG00000032657
Gene Name endosomal transmembrane epsin interactor 3
Synonyms Fam189b, 1110013L07Rik
MMRRC Submission 067624-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.075) question?
Stock # R8201 (G1)
Quality Score 225.009
Status Not validated
Chromosome 3
Chromosomal Location 89090450-89096602 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 89093115 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Valine to Alanine at position 291 (V291A)
Ref Sequence ENSEMBL: ENSMUSP00000039261 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029684] [ENSMUST00000041913] [ENSMUST00000098941] [ENSMUST00000117278] [ENSMUST00000119707] [ENSMUST00000120697] [ENSMUST00000127982] [ENSMUST00000140473] [ENSMUST00000147696]
AlphaFold Q5HZJ5
Predicted Effect probably benign
Transcript: ENSMUST00000029684
SMART Domains Protein: ENSMUSP00000029684
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 49 69 N/A INTRINSIC
coiled coil region 89 127 N/A INTRINSIC
Pfam:SCAMP 133 310 1.5e-76 PFAM
low complexity region 329 348 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000041913
AA Change: V291A

PolyPhen 2 Score 0.985 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000039261
Gene: ENSMUSG00000032657
AA Change: V291A

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 8e-36 PFAM
low complexity region 243 254 N/A INTRINSIC
low complexity region 390 408 N/A INTRINSIC
low complexity region 445 463 N/A INTRINSIC
low complexity region 471 490 N/A INTRINSIC
low complexity region 628 649 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000098941
SMART Domains Protein: ENSMUSP00000096540
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 49 69 N/A INTRINSIC
coiled coil region 89 127 N/A INTRINSIC
Pfam:SCAMP 133 229 5.5e-46 PFAM
Pfam:SCAMP 227 276 2.2e-11 PFAM
low complexity region 295 314 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000117278
AA Change: V272A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113706
Gene: ENSMUSG00000032657
AA Change: V272A

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
transmembrane domain 34 56 N/A INTRINSIC
Pfam:CD20 74 177 7.3e-13 PFAM
low complexity region 224 235 N/A INTRINSIC
low complexity region 371 389 N/A INTRINSIC
low complexity region 426 444 N/A INTRINSIC
low complexity region 452 471 N/A INTRINSIC
low complexity region 609 630 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000119707
AA Change: V213A

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000113579
Gene: ENSMUSG00000032657
AA Change: V213A

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-18 PFAM
low complexity region 312 330 N/A INTRINSIC
low complexity region 367 385 N/A INTRINSIC
low complexity region 393 412 N/A INTRINSIC
low complexity region 550 571 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000120697
SMART Domains Protein: ENSMUSP00000112846
Gene: ENSMUSG00000028049

DomainStartEndE-ValueType
low complexity region 50 70 N/A INTRINSIC
coiled coil region 90 128 N/A INTRINSIC
Pfam:SCAMP 135 310 1.1e-67 PFAM
low complexity region 330 349 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127982
SMART Domains Protein: ENSMUSP00000114855
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 77 6.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000140473
Predicted Effect probably benign
Transcript: ENSMUST00000147696
SMART Domains Protein: ENSMUSP00000117185
Gene: ENSMUSG00000032657

DomainStartEndE-ValueType
low complexity region 3 22 N/A INTRINSIC
Pfam:CD20 36 196 1.9e-30 PFAM
low complexity region 242 253 N/A INTRINSIC
low complexity region 324 349 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 97.9%
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is located near the gene for the lysosomal enzyme glucosylceramidase; a deficiency in this enzyme is associated with Gaucher disease. The encoded protein has been identified as a potential binding partner of a WW domain-containing protein which is involved in apoptosis and tumor suppression. Alternative splicing results in multiple transcript variants. [provided by RefSeq, Dec 2010]
Allele List at MGI
Other mutations in this stock
Total: 39 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700006A11Rik T C 3: 124,195,046 (GRCm39) E543G probably benign Het
2210408I21Rik T A 13: 77,341,278 (GRCm39) N302K possibly damaging Het
Apbb2 T C 5: 66,466,458 (GRCm39) N609S probably benign Het
Atp10a G T 7: 58,469,424 (GRCm39) G1092* probably null Het
Ccdc150 A G 1: 54,368,646 (GRCm39) N618S probably benign Het
Cct4 T A 11: 22,949,115 (GRCm39) V287E probably damaging Het
Cyp2j7 A T 4: 96,083,564 (GRCm39) I462N probably damaging Het
Dnajc6 C T 4: 101,475,960 (GRCm39) A611V probably benign Het
Dusp10 C A 1: 183,769,202 (GRCm39) A56E possibly damaging Het
Fat3 A C 9: 15,908,773 (GRCm39) C2410G possibly damaging Het
Fcgrt T A 7: 44,744,634 (GRCm39) Q274L possibly damaging Het
Fdxacb1 G T 9: 50,681,455 (GRCm39) probably benign Het
Fubp1 T A 3: 151,927,823 (GRCm39) I424N probably damaging Het
Gm5114 T A 7: 39,060,373 (GRCm39) T159S probably damaging Het
Gm7168 T C 17: 14,170,042 (GRCm39) C470R probably benign Het
Hebp1 A G 6: 135,114,906 (GRCm39) V185A possibly damaging Het
Il18rap G T 1: 40,578,429 (GRCm39) R280I possibly damaging Het
Mamdc4 T C 2: 25,456,093 (GRCm39) N771S probably damaging Het
Ndufaf4 A G 4: 24,898,197 (GRCm39) N11D possibly damaging Het
Nkiras1 T C 14: 18,276,908 (GRCm38) probably benign Het
Noct T C 3: 51,155,444 (GRCm39) S135P probably benign Het
Or1e23 T A 11: 73,407,899 (GRCm39) N42I probably damaging Het
Or2t48 A T 11: 58,419,865 (GRCm39) *316R noncoding transcript Het
Or2w3b A C 11: 58,623,940 (GRCm39) F17C probably damaging Het
Or7e177 G T 9: 20,212,317 (GRCm39) G271C probably damaging Het
Or7e178 T C 9: 20,225,908 (GRCm39) M103V probably benign Het
Pcdhac1 A T 18: 37,223,892 (GRCm39) H235L probably benign Het
Pcdhb22 G T 18: 37,651,518 (GRCm39) probably benign Het
Pdlim1 A T 19: 40,218,958 (GRCm39) D224E probably benign Het
Plpp3 G T 4: 105,076,555 (GRCm39) G223W probably damaging Het
Rcan3 A G 4: 135,147,684 (GRCm39) F81S probably damaging Het
Sel1l2 A C 2: 140,108,312 (GRCm39) Y191D probably damaging Het
Supt16 A G 14: 52,408,447 (GRCm39) F833L probably damaging Het
Tchh T C 3: 93,350,781 (GRCm39) F74L probably damaging Het
Tgfbr3 T C 5: 107,278,431 (GRCm39) D725G probably benign Het
Tmem14c C T 13: 41,171,186 (GRCm39) P10S probably benign Het
Ubb G A 11: 62,443,053 (GRCm39) A28T probably benign Het
Vars2 A T 17: 35,969,202 (GRCm39) V833E probably benign Het
Zfyve9 T C 4: 108,507,474 (GRCm39) D528G possibly damaging Het
Other mutations in Entrep3
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01382:Entrep3 APN 3 89,095,733 (GRCm39) missense probably damaging 1.00
IGL01554:Entrep3 APN 3 89,092,888 (GRCm39) missense probably damaging 1.00
IGL02061:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02064:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02065:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02066:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02067:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02068:Entrep3 APN 3 89,095,903 (GRCm39) nonsense probably null
IGL02890:Entrep3 APN 3 89,094,089 (GRCm39) missense possibly damaging 0.66
R1219:Entrep3 UTSW 3 89,091,155 (GRCm39) missense probably damaging 0.99
R1634:Entrep3 UTSW 3 89,095,401 (GRCm39) missense probably damaging 1.00
R1645:Entrep3 UTSW 3 89,094,154 (GRCm39) missense possibly damaging 0.65
R2043:Entrep3 UTSW 3 89,092,874 (GRCm39) missense probably damaging 1.00
R4176:Entrep3 UTSW 3 89,091,754 (GRCm39) missense probably damaging 1.00
R4379:Entrep3 UTSW 3 89,093,064 (GRCm39) missense probably damaging 1.00
R5972:Entrep3 UTSW 3 89,093,115 (GRCm39) missense probably damaging 1.00
R7617:Entrep3 UTSW 3 89,092,278 (GRCm39) missense probably damaging 1.00
R7831:Entrep3 UTSW 3 89,091,520 (GRCm39) splice site probably null
R7867:Entrep3 UTSW 3 89,093,083 (GRCm39) nonsense probably null
R8099:Entrep3 UTSW 3 89,091,250 (GRCm39) missense probably damaging 1.00
R8314:Entrep3 UTSW 3 89,095,453 (GRCm39) critical splice donor site probably null
R8553:Entrep3 UTSW 3 89,094,153 (GRCm39) missense possibly damaging 0.69
R8767:Entrep3 UTSW 3 89,091,725 (GRCm39) intron probably benign
R9048:Entrep3 UTSW 3 89,093,048 (GRCm39) missense probably damaging 1.00
R9407:Entrep3 UTSW 3 89,094,645 (GRCm39) missense possibly damaging 0.74
R9423:Entrep3 UTSW 3 89,092,007 (GRCm39) missense probably damaging 1.00
R9593:Entrep3 UTSW 3 89,091,199 (GRCm39) missense probably benign 0.30
R9599:Entrep3 UTSW 3 89,094,099 (GRCm39) missense possibly damaging 0.68
Predicted Primers PCR Primer
(F):5'- TGCACAAAGGTAAGGCTGGA -3'
(R):5'- GGGGCATCAGTTTCCATATCTTT -3'

Sequencing Primer
(F):5'- CAAAGGTAAGGCTGGAGGTGG -3'
(R):5'- GTCAGATCTCATTACAGGTGAGCC -3'
Posted On 2020-07-13