Incidental Mutation 'IGL03146:Ehbp1l1'
ID410895
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehbp1l1
Ensembl Gene ENSMUSG00000024937
Gene NameEH domain binding protein 1-like 1
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.520) question?
Stock #IGL03146
Quality Score
Status
Chromosome19
Chromosomal Location5707376-5726317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 5720033 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 414 (E414G)
Ref Sequence ENSEMBL: ENSMUSP00000037656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000075606]
Predicted Effect probably benign
Transcript: ENSMUST00000049295
AA Change: E414G

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: E414G

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.2e-24 PFAM
low complexity region 245 256 N/A INTRINSIC
low complexity region 276 291 N/A INTRINSIC
internal_repeat_1 442 821 1.71e-12 PROSPERO
internal_repeat_1 833 1197 1.71e-12 PROSPERO
CH 1212 1310 3.55e-16 SMART
low complexity region 1316 1331 N/A INTRINSIC
low complexity region 1426 1449 N/A INTRINSIC
low complexity region 1471 1484 N/A INTRINSIC
low complexity region 1493 1547 N/A INTRINSIC
DUF3585 1552 1696 6.7e-59 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000075606
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937

DomainStartEndE-ValueType
Pfam:NT-C2 12 164 3.9e-25 PFAM
CH 268 366 3.55e-16 SMART
low complexity region 372 387 N/A INTRINSIC
low complexity region 482 505 N/A INTRINSIC
low complexity region 527 540 N/A INTRINSIC
low complexity region 549 603 N/A INTRINSIC
DUF3585 608 752 6.7e-59 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous knockout leads to a reduction in the length and density of small intestinal microvilli, severe anemia, and neonatal lethality. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 42 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4921507P07Rik A T 6: 50,573,873 V532E probably damaging Het
Adam5 T C 8: 24,804,503 D360G probably damaging Het
Adam6a A T 12: 113,545,524 T506S probably damaging Het
Adamts15 A G 9: 30,921,567 V224A probably damaging Het
Arhgef12 G T 9: 42,974,570 D1251E possibly damaging Het
Ccdc180 G T 4: 45,903,840 probably benign Het
Ccdc85c G A 12: 108,207,136 R387* probably null Het
Cfap57 T A 4: 118,599,019 I493F probably damaging Het
Chst9 A G 18: 15,452,978 I176T probably damaging Het
Clpx G T 9: 65,326,830 V572L probably benign Het
Csmd3 T A 15: 47,881,477 N1374I probably benign Het
Cyp2e1 T A 7: 140,770,221 M273K probably benign Het
Ehd1 T C 19: 6,277,338 F122L probably damaging Het
Fcho1 A G 8: 71,717,430 probably benign Het
Fermt3 T C 19: 7,003,263 E312G possibly damaging Het
Fut2 C T 7: 45,650,769 G193E possibly damaging Het
G3bp2 G A 5: 92,066,540 R132C probably damaging Het
Inpp4b A T 8: 81,743,781 I35F possibly damaging Het
Izumo3 T G 4: 92,145,039 I107L probably damaging Het
Lama3 C A 18: 12,527,624 Q484K possibly damaging Het
Lyl1 C T 8: 84,702,671 P3L possibly damaging Het
Mapkbp1 T C 2: 119,998,474 probably benign Het
Mast4 T C 13: 102,737,655 N1735S probably benign Het
Olfr1186 T A 2: 88,526,144 M187K possibly damaging Het
Olfr298 T C 7: 86,489,194 D119G probably damaging Het
Oxct1 T C 15: 4,101,148 L374P probably damaging Het
Parp14 G A 16: 35,858,453 Q382* probably null Het
Pax2 A G 19: 44,833,275 probably benign Het
Prkaa1 T C 15: 5,168,641 V146A probably damaging Het
Ptprb C T 10: 116,328,127 A900V probably benign Het
Rgs6 A T 12: 83,052,538 D130V probably damaging Het
Ryr1 C A 7: 29,094,032 R1344L probably benign Het
Scgb1b12 C A 7: 32,334,544 D76E possibly damaging Het
Sel1l3 T A 5: 53,154,243 E633D probably benign Het
Slc1a7 T A 4: 107,992,992 I100N probably damaging Het
Slc25a35 A G 11: 68,968,852 K64E possibly damaging Het
Stil C A 4: 115,024,415 Q719K probably damaging Het
Stim1 T A 7: 102,421,355 L265Q probably damaging Het
Tcrg-V3 C A 13: 19,243,167 Y73* probably null Het
Tmem191c A G 16: 17,277,382 E169G probably damaging Het
Tmem255b T C 8: 13,454,174 L101P probably damaging Het
Zfyve26 G A 12: 79,284,072 Q458* probably null Het
Other mutations in Ehbp1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Ehbp1l1 APN 19 5717933 missense probably benign 0.33
IGL01061:Ehbp1l1 APN 19 5717888 missense probably benign
IGL01372:Ehbp1l1 APN 19 5715789 splice site probably benign
IGL01790:Ehbp1l1 APN 19 5722984 missense probably damaging 0.99
IGL01936:Ehbp1l1 APN 19 5718249 nonsense probably null
IGL02194:Ehbp1l1 APN 19 5718857 missense probably benign
IGL02347:Ehbp1l1 APN 19 5719572 missense possibly damaging 0.72
IGL02372:Ehbp1l1 APN 19 5710834 missense possibly damaging 0.53
IGL02681:Ehbp1l1 APN 19 5720825 missense probably damaging 0.98
IGL02824:Ehbp1l1 APN 19 5719298 missense probably benign
IGL03070:Ehbp1l1 APN 19 5715953 missense probably benign 0.33
PIT4802001:Ehbp1l1 UTSW 19 5719575 missense possibly damaging 0.93
R0309:Ehbp1l1 UTSW 19 5720570 missense possibly damaging 0.72
R0787:Ehbp1l1 UTSW 19 5722668 missense possibly damaging 0.95
R1156:Ehbp1l1 UTSW 19 5708336 unclassified probably benign
R1337:Ehbp1l1 UTSW 19 5718230 missense probably benign 0.00
R1474:Ehbp1l1 UTSW 19 5719084 missense possibly damaging 0.86
R1501:Ehbp1l1 UTSW 19 5716424 missense probably damaging 0.98
R1582:Ehbp1l1 UTSW 19 5721967 missense possibly damaging 0.83
R1766:Ehbp1l1 UTSW 19 5716406 missense probably damaging 0.98
R1838:Ehbp1l1 UTSW 19 5717691 missense probably benign 0.39
R1842:Ehbp1l1 UTSW 19 5725930 missense probably damaging 0.99
R1863:Ehbp1l1 UTSW 19 5717854 missense probably benign 0.01
R1955:Ehbp1l1 UTSW 19 5710669 missense possibly damaging 0.51
R2010:Ehbp1l1 UTSW 19 5719283 missense probably benign
R2098:Ehbp1l1 UTSW 19 5708658 missense possibly damaging 0.93
R2099:Ehbp1l1 UTSW 19 5718401 missense possibly damaging 0.72
R2852:Ehbp1l1 UTSW 19 5716487 missense probably damaging 0.99
R3113:Ehbp1l1 UTSW 19 5718980 missense probably benign 0.38
R3799:Ehbp1l1 UTSW 19 5719115 missense probably benign 0.33
R3891:Ehbp1l1 UTSW 19 5718312 missense possibly damaging 0.73
R3964:Ehbp1l1 UTSW 19 5710573 critical splice donor site probably null
R3966:Ehbp1l1 UTSW 19 5710573 critical splice donor site probably null
R4335:Ehbp1l1 UTSW 19 5708769 missense probably damaging 0.98
R4434:Ehbp1l1 UTSW 19 5716248 missense possibly damaging 0.93
R4457:Ehbp1l1 UTSW 19 5716293 missense possibly damaging 0.83
R4597:Ehbp1l1 UTSW 19 5717927 missense possibly damaging 0.72
R4726:Ehbp1l1 UTSW 19 5719176 missense possibly damaging 0.70
R4761:Ehbp1l1 UTSW 19 5719847 missense possibly damaging 0.93
R4771:Ehbp1l1 UTSW 19 5725968 missense probably damaging 1.00
R5402:Ehbp1l1 UTSW 19 5716320 missense possibly damaging 0.91
R5436:Ehbp1l1 UTSW 19 5716248 missense possibly damaging 0.93
R5602:Ehbp1l1 UTSW 19 5708670 missense possibly damaging 0.85
R5893:Ehbp1l1 UTSW 19 5718431 missense probably benign
R6329:Ehbp1l1 UTSW 19 5718767 missense possibly damaging 0.53
R6416:Ehbp1l1 UTSW 19 5718757 missense probably benign 0.01
R7106:Ehbp1l1 UTSW 19 5718737 missense probably benign 0.33
R7262:Ehbp1l1 UTSW 19 5718446 nonsense probably null
R7304:Ehbp1l1 UTSW 19 5716382 missense probably damaging 1.00
R7317:Ehbp1l1 UTSW 19 5720702 missense probably benign 0.44
Z1088:Ehbp1l1 UTSW 19 5716287 missense possibly damaging 0.77
Posted On2016-08-02