Incidental Mutation 'R3113:Ehbp1l1'
ID 263911
Institutional Source Beutler Lab
Gene Symbol Ehbp1l1
Ensembl Gene ENSMUSG00000024937
Gene Name EH domain binding protein 1-like 1
Synonyms G430002G23Rik
MMRRC Submission 040586-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R3113 (G1)
Quality Score 225
Status Validated
Chromosome 19
Chromosomal Location 5757404-5776345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 5769008 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 765 (M765K)
Ref Sequence ENSEMBL: ENSMUSP00000037656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000075606]
AlphaFold no structure available at present
Predicted Effect probably benign
Transcript: ENSMUST00000049295
AA Change: M765K

PolyPhen 2 Score 0.383 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: M765K

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
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (59/59)
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: 58 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9330159F19Rik T A 10: 29,100,372 (GRCm39) Y248* probably null Het
Acta2 T C 19: 34,220,752 (GRCm39) I319V probably benign Het
Alox15 A T 11: 70,235,703 (GRCm39) N585K probably benign Het
Ank T A 15: 27,571,700 (GRCm39) I324N probably damaging Het
Ank1 A G 8: 23,574,813 (GRCm39) N99D probably damaging Het
As3mt T C 19: 46,703,717 (GRCm39) probably benign Het
Atg4b C T 1: 93,703,426 (GRCm39) probably benign Het
Atp2a1 A T 7: 126,047,541 (GRCm39) V705D probably damaging Het
Bves T C 10: 45,219,148 (GRCm39) V82A probably benign Het
Cad C A 5: 31,231,481 (GRCm39) H7Q possibly damaging Het
Carmil1 A G 13: 24,253,740 (GRCm39) V387A probably benign Het
Csnk2a1 T A 2: 152,105,134 (GRCm39) F181Y probably damaging Het
Cwc22 A T 2: 77,754,823 (GRCm39) probably benign Het
Ddx18 A G 1: 121,493,877 (GRCm39) S36P possibly damaging Het
Dnai2 T A 11: 114,642,756 (GRCm39) probably null Het
Fitm2 T C 2: 163,311,511 (GRCm39) Y234C probably damaging Het
Flrt3 T C 2: 140,503,454 (GRCm39) E58G probably benign Het
Foxs1 A G 2: 152,774,156 (GRCm39) V299A probably benign Het
Galnt12 A G 4: 47,108,415 (GRCm39) N184S probably benign Het
Gata6 T C 18: 11,063,124 (GRCm39) L464P probably damaging Het
Gm17332 T C 11: 31,132,384 (GRCm39) T27A possibly damaging Het
Ifna11 A C 4: 88,738,220 (GRCm39) M9L probably benign Het
Ldb3 T A 14: 34,251,418 (GRCm39) *623L probably null Het
Lrrc27 A G 7: 138,798,223 (GRCm39) D106G probably damaging Het
Ly6f A G 15: 75,143,577 (GRCm39) N95D probably benign Het
Lyst A G 13: 13,844,512 (GRCm39) I1901V probably benign Het
Mboat2 A G 12: 24,932,718 (GRCm39) Y70C probably damaging Het
Mmut G A 17: 41,269,247 (GRCm39) G610D probably damaging Het
Mroh1 T A 15: 76,292,736 (GRCm39) probably benign Het
Muc5b A G 7: 141,399,871 (GRCm39) H448R unknown Het
Myh2 A G 11: 67,076,012 (GRCm39) N733S probably damaging Het
Nid2 G A 14: 19,828,111 (GRCm39) G516S probably benign Het
Nlrp1a A T 11: 71,014,491 (GRCm39) I253N probably damaging Het
Ocrl A G X: 47,022,304 (GRCm39) E258G probably benign Het
Or2w1 T A 13: 21,317,299 (GRCm39) M118K probably damaging Het
Or6c2 A T 10: 129,363,012 (GRCm39) R305S probably benign Het
Pak1 C A 7: 97,515,321 (GRCm39) S115* probably null Het
Pilrb1 C T 5: 137,853,195 (GRCm39) V203I possibly damaging Het
Ppfia2 T A 10: 106,742,256 (GRCm39) Y1016* probably null Het
Prmt3 C A 7: 49,431,760 (GRCm39) P121Q probably damaging Het
Rhox6 T A X: 36,916,507 (GRCm39) I116N possibly damaging Het
Saxo2 A C 7: 82,292,949 (GRCm39) F49L probably benign Het
Scn2a A C 2: 65,579,129 (GRCm39) D1488A possibly damaging Het
Scn5a T A 9: 119,314,738 (GRCm39) D1989V probably damaging Het
Sec31b C A 19: 44,506,624 (GRCm39) E905* probably null Het
Secisbp2l A T 2: 125,592,206 (GRCm39) F672I probably damaging Het
Slc22a23 C T 13: 34,367,058 (GRCm39) G650E probably damaging Het
Smu1 A G 4: 40,748,658 (GRCm39) F211L probably benign Het
Spef1l G T 7: 139,555,878 (GRCm39) probably benign Het
Tab1 C T 15: 80,032,461 (GRCm39) L23F probably benign Het
Thsd7b G A 1: 129,977,599 (GRCm39) C1078Y probably benign Het
Ttn A T 2: 76,644,542 (GRCm39) Y13071N probably damaging Het
Usp17ld A G 7: 102,899,870 (GRCm39) V354A probably benign Het
Usp31 A G 7: 121,278,736 (GRCm39) S210P probably damaging Het
Wdr12 T C 1: 60,126,221 (GRCm39) D198G probably benign Het
Wrap53 A G 11: 69,454,144 (GRCm39) V298A probably benign Het
Xirp2 A G 2: 67,340,491 (GRCm39) I911V probably benign Het
Zcchc2 T C 1: 105,918,752 (GRCm39) M78T unknown Het
Other mutations in Ehbp1l1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00933:Ehbp1l1 APN 19 5,767,961 (GRCm39) missense probably benign 0.33
IGL01061:Ehbp1l1 APN 19 5,767,916 (GRCm39) missense probably benign
IGL01372:Ehbp1l1 APN 19 5,765,817 (GRCm39) splice site probably benign
IGL01790:Ehbp1l1 APN 19 5,773,012 (GRCm39) missense probably damaging 0.99
IGL01936:Ehbp1l1 APN 19 5,768,277 (GRCm39) nonsense probably null
IGL02194:Ehbp1l1 APN 19 5,768,885 (GRCm39) missense probably benign
IGL02347:Ehbp1l1 APN 19 5,769,600 (GRCm39) missense possibly damaging 0.72
IGL02372:Ehbp1l1 APN 19 5,760,862 (GRCm39) missense possibly damaging 0.53
IGL02681:Ehbp1l1 APN 19 5,770,853 (GRCm39) missense probably damaging 0.98
IGL02824:Ehbp1l1 APN 19 5,769,326 (GRCm39) missense probably benign
IGL03070:Ehbp1l1 APN 19 5,765,981 (GRCm39) missense probably benign 0.33
IGL03146:Ehbp1l1 APN 19 5,770,061 (GRCm39) missense probably benign 0.00
PIT4802001:Ehbp1l1 UTSW 19 5,769,603 (GRCm39) missense possibly damaging 0.93
R0309:Ehbp1l1 UTSW 19 5,770,598 (GRCm39) missense possibly damaging 0.72
R0787:Ehbp1l1 UTSW 19 5,772,696 (GRCm39) missense possibly damaging 0.95
R1156:Ehbp1l1 UTSW 19 5,758,364 (GRCm39) unclassified probably benign
R1337:Ehbp1l1 UTSW 19 5,768,258 (GRCm39) missense probably benign 0.00
R1474:Ehbp1l1 UTSW 19 5,769,112 (GRCm39) missense possibly damaging 0.86
R1501:Ehbp1l1 UTSW 19 5,766,452 (GRCm39) missense probably damaging 0.98
R1582:Ehbp1l1 UTSW 19 5,771,995 (GRCm39) missense possibly damaging 0.83
R1766:Ehbp1l1 UTSW 19 5,766,434 (GRCm39) missense probably damaging 0.98
R1838:Ehbp1l1 UTSW 19 5,767,719 (GRCm39) missense probably benign 0.39
R1842:Ehbp1l1 UTSW 19 5,775,958 (GRCm39) missense probably damaging 0.99
R1863:Ehbp1l1 UTSW 19 5,767,882 (GRCm39) missense probably benign 0.01
R1955:Ehbp1l1 UTSW 19 5,760,697 (GRCm39) missense possibly damaging 0.51
R2010:Ehbp1l1 UTSW 19 5,769,311 (GRCm39) missense probably benign
R2098:Ehbp1l1 UTSW 19 5,758,686 (GRCm39) missense possibly damaging 0.93
R2099:Ehbp1l1 UTSW 19 5,768,429 (GRCm39) missense possibly damaging 0.72
R2852:Ehbp1l1 UTSW 19 5,766,515 (GRCm39) missense probably damaging 0.99
R3799:Ehbp1l1 UTSW 19 5,769,143 (GRCm39) missense probably benign 0.33
R3891:Ehbp1l1 UTSW 19 5,768,340 (GRCm39) missense possibly damaging 0.73
R3964:Ehbp1l1 UTSW 19 5,760,601 (GRCm39) critical splice donor site probably null
R3966:Ehbp1l1 UTSW 19 5,760,601 (GRCm39) critical splice donor site probably null
R4335:Ehbp1l1 UTSW 19 5,758,797 (GRCm39) missense probably damaging 0.98
R4434:Ehbp1l1 UTSW 19 5,766,276 (GRCm39) missense possibly damaging 0.93
R4457:Ehbp1l1 UTSW 19 5,766,321 (GRCm39) missense possibly damaging 0.83
R4597:Ehbp1l1 UTSW 19 5,767,955 (GRCm39) missense possibly damaging 0.72
R4726:Ehbp1l1 UTSW 19 5,769,204 (GRCm39) missense possibly damaging 0.70
R4761:Ehbp1l1 UTSW 19 5,769,875 (GRCm39) missense possibly damaging 0.93
R4771:Ehbp1l1 UTSW 19 5,775,996 (GRCm39) missense probably damaging 1.00
R5402:Ehbp1l1 UTSW 19 5,766,348 (GRCm39) missense possibly damaging 0.91
R5436:Ehbp1l1 UTSW 19 5,766,276 (GRCm39) missense possibly damaging 0.93
R5602:Ehbp1l1 UTSW 19 5,758,698 (GRCm39) missense possibly damaging 0.85
R5893:Ehbp1l1 UTSW 19 5,768,459 (GRCm39) missense probably benign
R6329:Ehbp1l1 UTSW 19 5,768,795 (GRCm39) missense possibly damaging 0.53
R6416:Ehbp1l1 UTSW 19 5,768,785 (GRCm39) missense probably benign 0.01
R7106:Ehbp1l1 UTSW 19 5,768,765 (GRCm39) missense probably benign 0.33
R7262:Ehbp1l1 UTSW 19 5,768,474 (GRCm39) nonsense probably null
R7304:Ehbp1l1 UTSW 19 5,766,410 (GRCm39) missense probably damaging 1.00
R7317:Ehbp1l1 UTSW 19 5,770,730 (GRCm39) missense probably benign 0.44
R7404:Ehbp1l1 UTSW 19 5,770,872 (GRCm39) missense possibly damaging 0.72
R7447:Ehbp1l1 UTSW 19 5,769,456 (GRCm39) missense possibly damaging 0.53
R7862:Ehbp1l1 UTSW 19 5,770,851 (GRCm39) missense probably benign
R7881:Ehbp1l1 UTSW 19 5,769,426 (GRCm39) missense probably benign
R7910:Ehbp1l1 UTSW 19 5,766,452 (GRCm39) missense probably benign 0.28
R8239:Ehbp1l1 UTSW 19 5,770,089 (GRCm39) missense possibly damaging 0.53
R8309:Ehbp1l1 UTSW 19 5,767,103 (GRCm39) missense probably damaging 1.00
R8324:Ehbp1l1 UTSW 19 5,770,026 (GRCm39) missense possibly damaging 0.86
R8724:Ehbp1l1 UTSW 19 5,765,886 (GRCm39) missense possibly damaging 0.73
R9260:Ehbp1l1 UTSW 19 5,769,278 (GRCm39) missense probably benign 0.07
R9453:Ehbp1l1 UTSW 19 5,758,371 (GRCm39) missense unknown
RF053:Ehbp1l1 UTSW 19 5,766,030 (GRCm39) small deletion probably benign
Z1088:Ehbp1l1 UTSW 19 5,766,315 (GRCm39) missense possibly damaging 0.77
Z1176:Ehbp1l1 UTSW 19 5,767,917 (GRCm39) missense probably benign
Z1177:Ehbp1l1 UTSW 19 5,769,462 (GRCm39) missense probably benign 0.02
Z1177:Ehbp1l1 UTSW 19 5,769,130 (GRCm39) missense probably benign 0.01
Z1177:Ehbp1l1 UTSW 19 5,769,129 (GRCm39) missense probably benign 0.07
Z1177:Ehbp1l1 UTSW 19 5,768,790 (GRCm39) missense probably damaging 0.99
Predicted Primers PCR Primer
(F):5'- TATCCCAGTATCTACCTCTAGAACC -3'
(R):5'- TGCTGAAGACACAGGCTGAG -3'

Sequencing Primer
(F):5'- GTATCTACCTCTAGAACCCCTAAATC -3'
(R):5'- CACAGGCTGAGATATTGGAAACCC -3'
Posted On 2015-02-05