Incidental Mutation 'R0385:Entr1'
ID 31203
Institutional Source Beutler Lab
Gene Symbol Entr1
Ensembl Gene ENSMUSG00000026927
Gene Name endosome associated trafficking regulator 1
Synonyms C330016H24Rik, Sdccag3, C630038K21Rik
MMRRC Submission 038591-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R0385 (G1)
Quality Score 225
Status Not validated
Chromosome 2
Chromosomal Location 26272814-26279328 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 26277671 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 41 (E41G)
Ref Sequence ENSEMBL: ENSMUSP00000121256 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028293] [ENSMUST00000076431] [ENSMUST00000077983] [ENSMUST00000114093] [ENSMUST00000114100] [ENSMUST00000114102] [ENSMUST00000139738]
AlphaFold A2AIW0
Predicted Effect probably benign
Transcript: ENSMUST00000028293
AA Change: E51G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000028293
Gene: ENSMUSG00000026927
AA Change: E51G

DomainStartEndE-ValueType
coiled coil region 209 321 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000076431
SMART Domains Protein: ENSMUSP00000075762
Gene: ENSMUSG00000026926

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 4.5e-47 PFAM
Pfam:Peptidase_M16_C 231 430 4.1e-43 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000077983
AA Change: E28G

PolyPhen 2 Score 0.003 (Sensitivity: 0.98; Specificity: 0.44)
SMART Domains Protein: ENSMUSP00000077133
Gene: ENSMUSG00000026927
AA Change: E28G

DomainStartEndE-ValueType
coiled coil region 186 298 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114093
SMART Domains Protein: ENSMUSP00000109727
Gene: ENSMUSG00000026926

DomainStartEndE-ValueType
Pfam:Peptidase_M16 76 226 1.6e-47 PFAM
Pfam:Peptidase_M16_C 231 420 9.6e-39 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000114100
AA Change: E78G

PolyPhen 2 Score 0.091 (Sensitivity: 0.93; Specificity: 0.85)
SMART Domains Protein: ENSMUSP00000109735
Gene: ENSMUSG00000026927
AA Change: E78G

DomainStartEndE-ValueType
coiled coil region 236 348 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114102
AA Change: E101G

PolyPhen 2 Score 0.028 (Sensitivity: 0.95; Specificity: 0.81)
SMART Domains Protein: ENSMUSP00000109737
Gene: ENSMUSG00000026927
AA Change: E101G

DomainStartEndE-ValueType
coiled coil region 259 371 N/A INTRINSIC
Predicted Effect possibly damaging
Transcript: ENSMUST00000139738
AA Change: E41G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000121256
Gene: ENSMUSG00000026927
AA Change: E41G

DomainStartEndE-ValueType
low complexity region 1 15 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137686
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139535
Predicted Effect noncoding transcript
Transcript: ENSMUST00000136972
Predicted Effect noncoding transcript
Transcript: ENSMUST00000133737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132574
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134737
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125518
Predicted Effect noncoding transcript
Transcript: ENSMUST00000134871
Predicted Effect noncoding transcript
Transcript: ENSMUST00000135155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130954
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137814
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152375
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140115
Predicted Effect noncoding transcript
Transcript: ENSMUST00000140074
Predicted Effect noncoding transcript
Transcript: ENSMUST00000150375
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.2%
  • 10x: 96.0%
  • 20x: 92.0%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acaca A G 11: 84,122,574 (GRCm39) N331S probably benign Het
Adk A G 14: 21,368,142 (GRCm39) N189S probably benign Het
Apc T A 18: 34,448,997 (GRCm39) N1930K probably damaging Het
Arhgap28 T C 17: 68,171,601 (GRCm39) D391G probably damaging Het
Atn1 G T 6: 124,720,334 (GRCm39) probably benign Het
C2cd5 T C 6: 142,987,216 (GRCm39) E471G probably damaging Het
Camta1 C A 4: 151,159,597 (GRCm39) R1614L probably damaging Het
Cap2 T C 13: 46,714,023 (GRCm39) L34P probably damaging Het
Cdc42ep2 T A 19: 5,968,553 (GRCm39) M51L probably benign Het
Cntn5 C T 9: 9,972,875 (GRCm39) A254T probably damaging Het
Dicer1 A T 12: 104,670,433 (GRCm39) L1044H probably damaging Het
Dkk3 A C 7: 111,757,430 (GRCm39) M58R probably damaging Het
Dpy19l3 G A 7: 35,452,130 (GRCm39) R5W probably damaging Het
Dsg1c C T 18: 20,416,711 (GRCm39) P871S probably damaging Het
Dusp1 A T 17: 26,726,670 (GRCm39) S131T probably benign Het
Enpp2 C T 15: 54,745,555 (GRCm39) G314R probably damaging Het
Fam222b C A 11: 78,045,756 (GRCm39) P439Q probably benign Het
Fastkd2 A T 1: 63,776,970 (GRCm39) I369F probably benign Het
Fdps G A 3: 89,002,201 (GRCm39) S205F probably damaging Het
Fmo1 A T 1: 162,663,773 (GRCm39) V252E possibly damaging Het
Frmd5 A G 2: 121,386,055 (GRCm39) Y230H probably damaging Het
Gal C T 19: 3,461,171 (GRCm39) V88I probably benign Het
Gnptab T C 10: 88,272,387 (GRCm39) I1009T probably damaging Het
Idh2 C T 7: 79,748,005 (GRCm39) A232T probably damaging Het
Klhdc7a A T 4: 139,694,016 (GRCm39) D310E probably benign Het
Klk4 T C 7: 43,533,432 (GRCm39) M97T probably benign Het
Krt82 C T 15: 101,454,028 (GRCm39) V227M probably damaging Het
Lpp T C 16: 24,580,587 (GRCm39) V226A probably damaging Het
Mbd1 AGCTGACTCGGTAC A 18: 74,406,312 (GRCm39) probably null Het
Mcm10 T C 2: 5,008,965 (GRCm39) K335E possibly damaging Het
Mpv17l A T 16: 13,758,863 (GRCm39) I96L probably benign Het
Muc6 G A 7: 141,218,313 (GRCm39) S2120F possibly damaging Het
Myb T C 10: 21,030,611 (GRCm39) D62G possibly damaging Het
Nasp A T 4: 116,467,892 (GRCm39) N364K probably benign Het
Npsr1 A G 9: 24,224,573 (GRCm39) N317D probably damaging Het
Nup210 A G 6: 91,005,777 (GRCm39) V619A possibly damaging Het
Oser1 C T 2: 163,253,316 (GRCm39) probably null Het
Pcdhb4 T C 18: 37,442,268 (GRCm39) F526S probably damaging Het
Plekhh3 T C 11: 101,055,967 (GRCm39) N444S probably damaging Het
Pnpla5 G T 15: 84,004,920 (GRCm39) L144M probably damaging Het
Pou2f2 G A 7: 24,815,501 (GRCm39) Q89* probably null Het
Ptprb A G 10: 116,186,083 (GRCm39) I1713V probably benign Het
Ptprd A G 4: 76,046,902 (GRCm39) Y442H probably damaging Het
Rad21 A T 15: 51,837,259 (GRCm39) I152N possibly damaging Het
Ralgapa1 A G 12: 55,723,823 (GRCm39) S1568P probably damaging Het
Rhag T A 17: 41,145,618 (GRCm39) V357E probably damaging Het
Rnf121 A T 7: 101,678,324 (GRCm39) D174E possibly damaging Het
Sf3b4 T C 3: 96,080,298 (GRCm39) Y16H probably damaging Het
Slc1a3 C T 15: 8,668,619 (GRCm39) V449I probably damaging Het
Slc20a2 A G 8: 23,058,409 (GRCm39) I648M probably benign Het
Slc25a25 T A 2: 32,307,834 (GRCm39) I254F probably damaging Het
Slit3 A G 11: 35,591,109 (GRCm39) H1307R probably damaging Het
Sorl1 C A 9: 41,943,205 (GRCm39) M890I probably damaging Het
Supt16 A C 14: 52,414,175 (GRCm39) M468R probably benign Het
Taf4b T C 18: 14,916,817 (GRCm39) S56P probably benign Het
Tapt1 T C 5: 44,375,443 (GRCm39) probably null Het
Tmco3 T G 8: 13,346,027 (GRCm39) C288W probably damaging Het
Tpcn2 A G 7: 144,830,911 (GRCm39) Y145H probably damaging Het
Ttn C T 2: 76,712,061 (GRCm39) probably benign Het
Usb1 G T 8: 96,071,946 (GRCm39) W215C probably damaging Het
Usp2 C G 9: 44,004,047 (GRCm39) T305R probably damaging Het
Vmn1r13 G A 6: 57,187,690 (GRCm39) S283N probably benign Het
Vps54 A G 11: 21,256,381 (GRCm39) K467E possibly damaging Het
Wnk2 G T 13: 49,221,604 (GRCm39) S1121Y probably damaging Het
Zbed6 A T 1: 133,584,522 (GRCm39) D938E probably damaging Het
Other mutations in Entr1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02480:Entr1 APN 2 26,275,132 (GRCm39) missense probably damaging 0.98
IGL03293:Entr1 APN 2 26,277,688 (GRCm39) splice site probably benign
R1707:Entr1 UTSW 2 26,277,618 (GRCm39) missense probably damaging 1.00
R2035:Entr1 UTSW 2 26,273,639 (GRCm39) missense probably damaging 1.00
R3743:Entr1 UTSW 2 26,278,655 (GRCm39) intron probably benign
R3977:Entr1 UTSW 2 26,274,805 (GRCm39) missense probably damaging 1.00
R4592:Entr1 UTSW 2 26,278,909 (GRCm39) unclassified probably benign
R5389:Entr1 UTSW 2 26,275,559 (GRCm39) missense probably damaging 1.00
R6030:Entr1 UTSW 2 26,276,983 (GRCm39) missense possibly damaging 0.71
R6030:Entr1 UTSW 2 26,276,983 (GRCm39) missense possibly damaging 0.71
R6381:Entr1 UTSW 2 26,275,093 (GRCm39) critical splice donor site probably null
R8277:Entr1 UTSW 2 26,274,778 (GRCm39) missense probably damaging 1.00
R9729:Entr1 UTSW 2 26,278,645 (GRCm39) missense unknown
R9752:Entr1 UTSW 2 26,276,990 (GRCm39) missense probably benign
Predicted Primers PCR Primer
(F):5'- ACTCAAGTGTCTGCCTCCAAAGC -3'
(R):5'- GTGAAGTCAGCCTCAGCAACCTAC -3'

Sequencing Primer
(F):5'- GTCTGCCTCCAAAGCTGTAAG -3'
(R):5'- CTCAGAGGTAGATCAGTTACCTG -3'
Posted On 2013-04-24