Incidental Mutation 'R2098:Ehbp1l1'
ID 230400
Institutional Source Beutler Lab
Gene Symbol Ehbp1l1
Ensembl Gene ENSMUSG00000024937
Gene Name EH domain binding protein 1-like 1
Synonyms G430002G23Rik
MMRRC Submission 040102-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R2098 (G1)
Quality Score 225
Status Not validated
Chromosome 19
Chromosomal Location 5757404-5776345 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to T at 5758686 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Lysine at position 1652 (T1652K)
Ref Sequence ENSEMBL: ENSMUSP00000037656 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000049295] [ENSMUST00000052448] [ENSMUST00000075606]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000049295
AA Change: T1652K

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037656
Gene: ENSMUSG00000024937
AA Change: T1652K

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: ENSMUST00000052448
SMART Domains Protein: ENSMUSP00000051278
Gene: ENSMUSG00000024936

DomainStartEndE-ValueType
signal peptide 1 24 N/A INTRINSIC
Pfam:Ion_trans_2 67 145 3.2e-14 PFAM
Pfam:Ion_trans_2 175 261 8.8e-12 PFAM
Predicted Effect unknown
Transcript: ENSMUST00000075606
AA Change: T708K
SMART Domains Protein: ENSMUSP00000126740
Gene: ENSMUSG00000024937
AA Change: T708K

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
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.7%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8a T C 11: 109,927,405 (GRCm39) E1316G probably damaging Het
Arhgap32 C A 9: 32,171,207 (GRCm39) T1329K probably damaging Het
Arhgef10l G C 4: 140,306,743 (GRCm39) L104V probably damaging Het
Bend3 T C 10: 43,386,500 (GRCm39) S298P probably damaging Het
Cacna1b C T 2: 24,540,558 (GRCm39) V1385M probably damaging Het
Camk2d G A 3: 126,574,091 (GRCm39) G166D probably damaging Het
Cd84 G A 1: 171,713,148 (GRCm39) C291Y probably benign Het
Cdhr2 A G 13: 54,863,457 (GRCm39) I113V probably benign Het
Cfap206 G A 4: 34,719,053 (GRCm39) Q318* probably null Het
Chd9 C T 8: 91,760,615 (GRCm39) P2120L probably benign Het
Cyth1 T A 11: 118,084,479 (GRCm39) I25F probably damaging Het
Dock2 A T 11: 34,216,279 (GRCm39) N1208K probably benign Het
Dock2 A G 11: 34,609,832 (GRCm39) S203P probably damaging Het
Eps8l2 G A 7: 140,935,705 (GRCm39) probably null Het
Fam3d T C 14: 8,361,479 (GRCm38) I47V probably benign Het
Gm10250 A G 15: 5,150,296 (GRCm39) probably benign Het
Gm9772 T C 17: 22,225,618 (GRCm39) H94R probably benign Het
Hspg2 G A 4: 137,247,420 (GRCm39) G1184D probably damaging Het
Igfn1 T A 1: 135,906,043 (GRCm39) D255V probably damaging Het
Marf1 T C 16: 13,932,064 (GRCm39) H1651R probably benign Het
Mllt10 T C 2: 18,167,464 (GRCm39) V385A possibly damaging Het
Mmp1b G A 9: 7,386,984 (GRCm39) S76L probably benign Het
Mrps2 C A 2: 28,358,327 (GRCm39) T39K probably benign Het
Myo6 T C 9: 80,188,808 (GRCm39) Y715H probably damaging Het
Nsun7 A G 5: 66,441,055 (GRCm39) E392G probably damaging Het
Obscn C T 11: 58,960,817 (GRCm39) E3374K probably damaging Het
Or2a20 G A 6: 43,194,437 (GRCm39) V197I probably benign Het
Or4c11 A T 2: 88,695,215 (GRCm39) I89F probably benign Het
Or56a4 A G 7: 104,806,478 (GRCm39) V137A probably benign Het
Or5w13 A T 2: 87,524,073 (GRCm39) M51K probably benign Het
Pkd2 C T 5: 104,626,768 (GRCm39) P317S probably damaging Het
Prl5a1 T C 13: 28,329,488 (GRCm39) S56P probably damaging Het
Psmd1 A G 1: 86,009,823 (GRCm39) probably null Het
Ptchd3 T C 11: 121,733,305 (GRCm39) C732R probably damaging Het
Rad51c A T 11: 87,293,589 (GRCm39) V71E probably benign Het
Scn11a A T 9: 119,621,560 (GRCm39) I619K possibly damaging Het
Sgpp1 T G 12: 75,763,284 (GRCm39) D299A probably damaging Het
Slc16a4 C A 3: 107,208,163 (GRCm39) Y224* probably null Het
Slc22a30 G A 19: 8,378,175 (GRCm39) S167L probably damaging Het
Slc6a5 T C 7: 49,595,315 (GRCm39) I559T probably damaging Het
Spire1 A G 18: 67,636,536 (GRCm39) F364L probably damaging Het
Srek1 G A 13: 103,881,363 (GRCm39) T421I unknown Het
St8sia4 T C 1: 95,581,253 (GRCm39) H163R probably damaging Het
Supt6 A G 11: 78,104,087 (GRCm39) probably null Het
Tas2r103 T C 6: 133,013,560 (GRCm39) T169A probably benign Het
Thrap3 A G 4: 126,073,823 (GRCm39) S308P probably damaging Het
V1rd19 C T 7: 23,703,160 (GRCm39) L209F probably damaging Het
Zfp267 T A 3: 36,220,289 (GRCm39) S771T probably benign 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
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
R3113:Ehbp1l1 UTSW 19 5,769,008 (GRCm39) missense probably benign 0.38
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'- AGTCTCAAAGTTGGCCCTACTTG -3'
(R):5'- ATACTTCTCTGACAGCATCGAGG -3'

Sequencing Primer
(F):5'- TTGCAAGCCCTGAGATTCCAG -3'
(R):5'- CTCTGACAGCATCGAGGAGCAG -3'
Posted On 2014-09-18