Incidental Mutation 'R9687:Entrep1'
ID 728948
Institutional Source Beutler Lab
Gene Symbol Entrep1
Ensembl Gene ENSMUSG00000071604
Gene Name endosomal transmembrane epsin interactor 1
Synonyms LOC381217, Fam189a2
MMRRC Submission
Accession Numbers
Essential gene? Probably non essential (E-score: 0.106) question?
Stock # R9687 (G1)
Quality Score 225.009
Status Not validated
Chromosome 19
Chromosomal Location 23950114-24008383 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 23957029 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Threonine at position 327 (I327T)
Ref Sequence ENSEMBL: ENSMUSP00000093878 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000096164]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000096164
AA Change: I327T

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000093878
Gene: ENSMUSG00000071604
AA Change: I327T

DomainStartEndE-ValueType
Pfam:CD20 91 254 9.5e-33 PFAM
low complexity region 282 294 N/A INTRINSIC
low complexity region 404 417 N/A INTRINSIC
low complexity region 455 469 N/A INTRINSIC
low complexity region 567 584 N/A INTRINSIC
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.7%
  • 20x: 99.1%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930111J21Rik1 A G 11: 48,839,249 (GRCm39) L446P probably damaging Het
Abcc9 T C 6: 142,578,889 (GRCm39) T927A probably benign Het
Abraxas2 A G 7: 132,482,577 (GRCm39) T258A probably benign Het
Akna A T 4: 63,292,674 (GRCm39) C1078* probably null Het
Arhgap24 T A 5: 102,994,022 (GRCm39) F34L probably benign Het
Cpa5 C T 6: 30,614,041 (GRCm39) T61I probably benign Het
Crebrf A G 17: 26,982,601 (GRCm39) *654W probably null Het
Dchs1 C A 7: 105,407,191 (GRCm39) R2134L probably damaging Het
Dcps T C 9: 35,035,978 (GRCm39) N303D probably damaging Het
Ddhd1 C T 14: 45,848,190 (GRCm39) E527K probably damaging Het
Dnah14 T A 1: 181,425,978 (GRCm39) M174K probably benign Het
Ehd1 A G 19: 6,348,330 (GRCm39) D436G Het
Epha8 G T 4: 136,665,897 (GRCm39) L420M probably damaging Het
Etv1 T C 12: 38,911,361 (GRCm39) Y396H probably damaging Het
Fbxo11 A G 17: 88,316,494 (GRCm39) I293T Het
Gcfc2 T A 6: 81,918,323 (GRCm39) S338T probably damaging Het
Gm10272 T C 10: 77,542,764 (GRCm39) V102A possibly damaging Het
Gm11110 T C 17: 57,410,439 (GRCm39) T20A unknown Het
Gna14 G A 19: 16,582,350 (GRCm39) R206Q Het
Gpm6a T C 8: 55,503,209 (GRCm39) Y153H possibly damaging Het
Grip1 G A 10: 119,874,569 (GRCm39) E778K possibly damaging Het
H2-M10.6 G A 17: 37,125,147 (GRCm39) V313I probably benign Het
Igkv8-19 T C 6: 70,318,005 (GRCm39) I74V probably benign Het
Kif24 A G 4: 41,428,546 (GRCm39) L138P probably damaging Het
Kif26a A G 12: 112,143,625 (GRCm39) E1293G probably damaging Het
Lrp1 A C 10: 127,402,562 (GRCm39) L2203R probably damaging Het
Ms4a6b A G 19: 11,497,806 (GRCm39) D35G possibly damaging Het
Myo1h A T 5: 114,458,769 (GRCm39) D184V Het
Ncdn G A 4: 126,642,467 (GRCm39) R397W probably damaging Het
Ncor1 A T 11: 62,260,193 (GRCm39) I519N possibly damaging Het
Obsl1 A G 1: 75,479,670 (GRCm39) V575A probably damaging Het
Or2y15 T C 11: 49,350,518 (GRCm39) F4S probably benign Het
Or5m8 G T 2: 85,822,220 (GRCm39) V20L probably benign Het
Or7a35 T A 10: 78,853,843 (GRCm39) I229N probably damaging Het
Osbpl5 A G 7: 143,247,598 (GRCm39) Y747H possibly damaging Het
Pcdh18 T A 3: 49,711,036 (GRCm39) D93V probably damaging Het
Ppef2 T A 5: 92,386,746 (GRCm39) D397V probably benign Het
Ppfia4 G A 1: 134,245,694 (GRCm39) T620I probably benign Het
Ppp1r9a T C 6: 4,905,978 (GRCm39) S178P probably damaging Het
Ptchd4 A G 17: 42,813,467 (GRCm39) Y456C probably damaging Het
Pxk A G 14: 8,151,567 (GRCm38) I461V possibly damaging Het
Rab18 T A 18: 6,784,622 (GRCm39) N104K probably benign Het
Sars1 A G 3: 108,343,221 (GRCm39) L90P probably benign Het
Scaf8 T A 17: 3,221,410 (GRCm39) I299N unknown Het
Sh3bp2 C T 5: 34,716,977 (GRCm39) P463S probably benign Het
Slc12a3 A G 8: 95,075,208 (GRCm39) N734S possibly damaging Het
Slc12a7 G T 13: 73,938,796 (GRCm39) R191L probably damaging Het
Slc7a12 A G 3: 14,545,960 (GRCm39) Y35C possibly damaging Het
Spmip2 G A 3: 79,337,299 (GRCm39) D36N possibly damaging Het
Susd4 A G 1: 182,722,762 (GRCm39) probably null Het
Taar7f G A 10: 23,925,727 (GRCm39) R107K probably benign Het
Tarm1 T C 7: 3,544,457 (GRCm39) T237A probably benign Het
Tshr C A 12: 91,504,439 (GRCm39) A459E probably damaging Het
Tubgcp5 G T 7: 55,475,327 (GRCm39) probably null Het
Unc13b T C 4: 43,174,920 (GRCm39) V1916A unknown Het
Unc45b A G 11: 82,810,562 (GRCm39) D274G probably damaging Het
Vmn1r230 T A 17: 21,067,604 (GRCm39) Y264* probably null Het
Vmn2r109 G T 17: 20,775,332 (GRCm39) Q132K Het
Zbtb20 A G 16: 43,430,160 (GRCm39) S151G possibly damaging Het
Zbtb22 A C 17: 34,136,850 (GRCm39) T332P probably damaging Het
Zc3h6 A G 2: 128,859,281 (GRCm39) D1104G probably damaging Het
Zfp748 A G 13: 67,690,471 (GRCm39) V263A probably benign Het
Zhx3 A C 2: 160,623,678 (GRCm39) V163G probably benign Het
Other mutations in Entrep1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00485:Entrep1 APN 19 23,962,086 (GRCm39) missense probably damaging 1.00
IGL03162:Entrep1 APN 19 23,965,824 (GRCm39) missense probably damaging 1.00
R0285:Entrep1 UTSW 19 23,956,749 (GRCm39) splice site probably benign
R0613:Entrep1 UTSW 19 23,963,853 (GRCm39) missense probably damaging 1.00
R1078:Entrep1 UTSW 19 23,950,939 (GRCm39) missense probably benign 0.01
R1122:Entrep1 UTSW 19 23,952,756 (GRCm39) missense probably damaging 1.00
R1228:Entrep1 UTSW 19 23,956,829 (GRCm39) missense probably benign 0.00
R1445:Entrep1 UTSW 19 23,998,998 (GRCm39) missense probably damaging 1.00
R1469:Entrep1 UTSW 19 23,950,970 (GRCm39) missense probably benign 0.01
R1469:Entrep1 UTSW 19 23,950,970 (GRCm39) missense probably benign 0.01
R1547:Entrep1 UTSW 19 23,957,065 (GRCm39) missense probably damaging 1.00
R1657:Entrep1 UTSW 19 23,952,999 (GRCm39) missense probably damaging 1.00
R1710:Entrep1 UTSW 19 23,957,059 (GRCm39) missense probably damaging 1.00
R3701:Entrep1 UTSW 19 23,956,831 (GRCm39) missense probably benign 0.00
R4163:Entrep1 UTSW 19 23,953,002 (GRCm39) missense probably damaging 1.00
R4163:Entrep1 UTSW 19 23,952,993 (GRCm39) missense probably damaging 1.00
R4164:Entrep1 UTSW 19 23,953,002 (GRCm39) missense probably damaging 1.00
R4164:Entrep1 UTSW 19 23,952,993 (GRCm39) missense probably damaging 1.00
R4303:Entrep1 UTSW 19 23,953,002 (GRCm39) missense probably damaging 1.00
R4303:Entrep1 UTSW 19 23,952,993 (GRCm39) missense probably damaging 1.00
R4418:Entrep1 UTSW 19 23,956,799 (GRCm39) missense probably benign
R4558:Entrep1 UTSW 19 24,007,913 (GRCm39) missense probably damaging 0.99
R4559:Entrep1 UTSW 19 24,007,913 (GRCm39) missense probably damaging 0.99
R4866:Entrep1 UTSW 19 23,952,790 (GRCm39) missense possibly damaging 0.64
R4879:Entrep1 UTSW 19 23,953,019 (GRCm39) critical splice acceptor site probably null
R4900:Entrep1 UTSW 19 23,952,790 (GRCm39) missense possibly damaging 0.64
R4934:Entrep1 UTSW 19 23,950,789 (GRCm39) makesense probably null
R5530:Entrep1 UTSW 19 23,952,958 (GRCm39) missense probably benign 0.01
R5942:Entrep1 UTSW 19 23,963,834 (GRCm39) missense probably damaging 1.00
R6041:Entrep1 UTSW 19 23,962,193 (GRCm39) missense probably benign 0.41
R6207:Entrep1 UTSW 19 23,950,802 (GRCm39) missense probably damaging 1.00
R6572:Entrep1 UTSW 19 23,962,082 (GRCm39) missense possibly damaging 0.78
R6573:Entrep1 UTSW 19 23,965,866 (GRCm39) missense probably damaging 1.00
R6711:Entrep1 UTSW 19 23,955,463 (GRCm39) missense probably benign 0.02
R6952:Entrep1 UTSW 19 23,962,082 (GRCm39) missense possibly damaging 0.78
R7621:Entrep1 UTSW 19 23,972,168 (GRCm39) missense possibly damaging 0.68
R7968:Entrep1 UTSW 19 23,962,091 (GRCm39) missense probably damaging 1.00
R8482:Entrep1 UTSW 19 23,965,866 (GRCm39) missense probably damaging 1.00
R8676:Entrep1 UTSW 19 23,965,858 (GRCm39) missense probably damaging 1.00
R8989:Entrep1 UTSW 19 23,962,196 (GRCm39) missense probably damaging 0.99
R9090:Entrep1 UTSW 19 23,972,221 (GRCm39) missense possibly damaging 0.95
R9271:Entrep1 UTSW 19 23,972,221 (GRCm39) missense possibly damaging 0.95
X0018:Entrep1 UTSW 19 23,953,010 (GRCm39) frame shift probably null
X0020:Entrep1 UTSW 19 23,953,010 (GRCm39) frame shift probably null
X0027:Entrep1 UTSW 19 23,953,010 (GRCm39) frame shift probably null
X0065:Entrep1 UTSW 19 23,953,010 (GRCm39) frame shift probably null
Predicted Primers PCR Primer
(F):5'- ACTCCTGCATCAGAAAGGAAGG -3'
(R):5'- AGTTATTCCTCTTTGGCTGAGC -3'

Sequencing Primer
(F):5'- GGAGAAGGAGGGGTCATTGTTTTTG -3'
(R):5'- AGCTTCTGTGAGTGTCTTTCCTCTAG -3'
Posted On 2022-10-06