Incidental Mutation 'IGL02347:Ehbp1l1'
ID289306
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? Essential (E-score: 1.000) question?
Stock #IGL02347
Quality Score
Status
Chromosome19
Chromosomal Location5707376-5726317 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 5719572 bp
ZygosityHeterozygous
Amino Acid Change Tryptophan to Arginine at position 568 (W568R)
Ref Sequence ENSEMBL: ENSMUSP00000037656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000075606]
Predicted Effect possibly damaging
Transcript: ENSMUST00000049295
AA Change: W568R

PolyPhen 2 Score 0.720 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: W568R

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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700123L14Rik A T 6: 96,165,530 Y178N probably damaging Het
9830107B12Rik T A 17: 48,145,664 K35* probably null Het
Adad2 G T 8: 119,616,669 G546V probably damaging Het
Bccip A G 7: 133,709,376 K7E probably benign Het
C8b G A 4: 104,786,954 E273K probably benign Het
Car12 T A 9: 66,764,347 V352D possibly damaging Het
Cyp2d11 G A 15: 82,390,480 R299C probably benign Het
Dnah10 A C 5: 124,833,423 probably null Het
Egf A T 3: 129,678,377 N1199K probably benign Het
Emc3 A G 6: 113,520,572 M106T possibly damaging Het
Epp13 A G 7: 6,269,884 I79M possibly damaging Het
Fam13b T C 18: 34,454,704 K514E probably damaging Het
Fhdc1 G A 3: 84,444,735 A1061V possibly damaging Het
Frg2f1 A C 4: 119,530,732 L190R probably damaging Het
Frmpd1 A G 4: 45,270,023 probably null Het
Glis3 A G 19: 28,531,883 F234L probably benign Het
Gm2035 T C 12: 87,919,589 D90G probably damaging Het
Grap2 T C 15: 80,646,356 probably benign Het
H2-M10.2 T A 17: 36,285,613 E113D probably benign Het
Itgb6 T C 2: 60,611,412 T685A probably benign Het
Mrpl19 A T 6: 81,962,011 M270K probably damaging Het
Msantd4 G T 9: 4,384,734 probably benign Het
Msr1 G T 8: 39,632,737 T34K probably damaging Het
Npc1 C T 18: 12,199,634 V780M probably benign Het
Nsun6 A G 2: 15,030,020 probably benign Het
Nt5c2 A G 19: 46,924,256 probably benign Het
Nucb2 A C 7: 116,535,878 Q340P probably benign Het
Olfr168 A G 16: 19,530,779 L47P probably damaging Het
Olfr401 C T 11: 74,121,571 T94I probably benign Het
Osgin1 A G 8: 119,445,538 E357G probably benign Het
Pabpc6 C T 17: 9,669,064 R186K probably benign Het
Pex1 A G 5: 3,603,350 K83R probably damaging Het
Ppid A G 3: 79,595,219 I82V probably benign Het
Pygl C T 12: 70,201,892 G318S probably benign Het
Rcn1 A T 2: 105,399,126 V27E probably benign Het
Rnaseh1 A T 12: 28,657,630 probably benign Het
Rnf148 A G 6: 23,654,730 V89A probably benign Het
Siglecf G A 7: 43,351,721 V38I possibly damaging Het
Slc13a5 T C 11: 72,258,954 probably null Het
Slc26a4 C T 12: 31,528,854 probably benign Het
Sos2 A T 12: 69,596,746 D953E probably benign Het
Strbp A C 2: 37,645,648 V16G probably benign Het
Sycp1 A T 3: 102,893,547 M567K probably benign Het
Tedc2 A C 17: 24,220,610 V19G probably damaging Het
Tjp1 A G 7: 65,301,064 probably null Het
Ttn A T 2: 76,709,220 V26147E probably damaging Het
Vmn1r86 A G 7: 13,102,647 S51P probably damaging Het
Vmn2r83 A G 10: 79,480,233 T488A possibly damaging Het
Zfp541 A G 7: 16,083,465 Y945C probably damaging 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
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
IGL03146:Ehbp1l1 APN 19 5720033 missense probably benign 0.00
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
R7404:Ehbp1l1 UTSW 19 5720844 missense possibly damaging 0.72
R7447:Ehbp1l1 UTSW 19 5719428 missense possibly damaging 0.53
R7862:Ehbp1l1 UTSW 19 5720823 missense probably benign
R7881:Ehbp1l1 UTSW 19 5719398 missense probably benign
R7910:Ehbp1l1 UTSW 19 5716424 missense probably benign 0.28
R7945:Ehbp1l1 UTSW 19 5720823 missense probably benign
R7964:Ehbp1l1 UTSW 19 5719398 missense probably benign
R7991:Ehbp1l1 UTSW 19 5716424 missense probably benign 0.28
RF053:Ehbp1l1 UTSW 19 5716002 small deletion probably benign
Z1088:Ehbp1l1 UTSW 19 5716287 missense possibly damaging 0.77
Z1176:Ehbp1l1 UTSW 19 5717889 missense probably benign
Z1177:Ehbp1l1 UTSW 19 5718762 missense probably damaging 0.99
Z1177:Ehbp1l1 UTSW 19 5719101 missense probably benign 0.07
Z1177:Ehbp1l1 UTSW 19 5719102 missense probably benign 0.01
Z1177:Ehbp1l1 UTSW 19 5719434 missense probably benign 0.02
Posted On2015-04-16