Incidental Mutation 'R6259:Ehbp1'
ID 506562
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 044376-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R6259 (G1)
Quality Score 187.009
Status Not validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation start gained
DNA Base Change (assembly) A to G at 22235684 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000136697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000134293] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably benign
Transcript: ENSMUST00000045167
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302

DomainStartEndE-ValueType
Pfam:NT-C2 12 165 3.8e-32 PFAM
Blast:DUF3585 176 285 7e-6 BLAST
low complexity region 332 343 N/A INTRINSIC
low complexity region 374 392 N/A INTRINSIC
low complexity region 411 422 N/A INTRINSIC
CH 430 528 1.42e-15 SMART
Blast:CH 757 826 3e-12 BLAST
low complexity region 829 850 N/A INTRINSIC
low complexity region 883 898 N/A INTRINSIC
DUF3585 1043 1187 4.25e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000109563
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302

DomainStartEndE-ValueType
Pfam:NT-C2 12 165 1.3e-29 PFAM
Blast:DUF3585 176 285 7e-6 BLAST
low complexity region 357 368 N/A INTRINSIC
low complexity region 399 417 N/A INTRINSIC
low complexity region 436 447 N/A INTRINSIC
CH 455 553 1.42e-15 SMART
Blast:CH 782 851 3e-12 BLAST
low complexity region 854 875 N/A INTRINSIC
low complexity region 908 923 N/A INTRINSIC
DUF3585 1068 1212 4.25e-61 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000134293
SMART Domains Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302

DomainStartEndE-ValueType
Pfam:NT-C2 12 165 3.5e-33 PFAM
low complexity region 185 205 N/A INTRINSIC
Blast:DUF3585 206 250 4e-18 BLAST
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137594
Predicted Effect probably benign
Transcript: ENSMUST00000180360
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302

DomainStartEndE-ValueType
Pfam:NT-C2 12 165 3.8e-32 PFAM
Blast:DUF3585 176 285 7e-6 BLAST
low complexity region 332 343 N/A INTRINSIC
low complexity region 374 392 N/A INTRINSIC
low complexity region 411 422 N/A INTRINSIC
CH 430 528 1.42e-15 SMART
Blast:CH 757 826 3e-12 BLAST
low complexity region 829 850 N/A INTRINSIC
low complexity region 883 898 N/A INTRINSIC
DUF3585 1043 1187 4.25e-61 SMART
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.7%
  • 10x: 98.5%
  • 20x: 96.0%
Validation Efficiency 99% (74/75)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes an Eps15 homology domain binding protein. The encoded protein may play a role in endocytic trafficking. A single nucleotide polymorphism in this gene is associated with an aggressive form of prostate cancer. Alternate splicing results in multiple transcript variants. [provided by RefSeq, Feb 2010]
Allele List at MGI
Other mutations in this stock
Total: 77 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5730507C01Rik C A 12: 18,584,120 (GRCm39) N393K probably benign Het
Acap3 A T 4: 155,980,575 (GRCm39) I19F possibly damaging Het
Acsbg3 A G 17: 57,184,513 (GRCm39) Y96C probably benign Het
Adamts5 C T 16: 85,696,641 (GRCm39) R172H probably benign Het
Adgra3 A G 5: 50,156,483 (GRCm39) F416L possibly damaging Het
Amy1 T C 3: 113,363,059 (GRCm39) D96G possibly damaging Het
Ank2 A G 3: 126,810,635 (GRCm39) S484P probably benign Het
Arsa A G 15: 89,359,724 (GRCm39) C68R probably damaging Het
Asprv1 A G 6: 86,605,361 (GRCm39) Y69C probably benign Het
Ass1 A G 2: 31,378,654 (GRCm39) E162G possibly damaging Het
Atf7 G T 15: 102,455,673 (GRCm39) N230K probably damaging Het
Atp10b A G 11: 43,092,065 (GRCm39) M367V probably benign Het
Atp11b A G 3: 35,861,050 (GRCm39) Y179C probably damaging Het
BC004004 A T 17: 29,517,686 (GRCm39) Q300L possibly damaging Het
Bglap3 A T 3: 88,276,067 (GRCm39) I95N probably damaging Het
Cacna1h T C 17: 25,616,630 (GRCm39) probably null Het
Caskin2 C T 11: 115,691,279 (GRCm39) G1141D probably damaging Het
Clcn4 G A 7: 7,294,529 (GRCm39) R351W possibly damaging Het
Col11a1 T C 3: 113,932,096 (GRCm39) C89R probably benign Het
Csrp1 T G 1: 135,667,252 (GRCm39) probably null Het
Cwf19l2 T C 9: 3,458,879 (GRCm39) I776T probably damaging Het
Cyp2b19 A T 7: 26,470,817 (GRCm39) Q486L possibly damaging Het
Cyp2j9 T A 4: 96,472,243 (GRCm39) Y165F probably benign Het
Dab1 C T 4: 104,588,948 (GRCm39) A524V probably benign Het
Dennd1c G A 17: 57,374,104 (GRCm39) R522C probably damaging Het
Dmgdh T C 13: 93,888,816 (GRCm39) V818A probably benign Het
Dst T A 1: 34,221,477 (GRCm39) V2427E probably benign Het
Duox1 C T 2: 122,175,264 (GRCm39) T1354M probably benign Het
Epc2 T A 2: 49,378,866 (GRCm39) probably null Het
Eya2 T C 2: 165,558,019 (GRCm39) V205A probably benign Het
Fat4 A G 3: 39,061,395 (GRCm39) H4326R probably benign Het
Gaa C A 11: 119,171,997 (GRCm39) A700D probably benign Het
Gm10100 G T 10: 77,562,498 (GRCm39) C60F possibly damaging Het
Hhip T A 8: 80,699,033 (GRCm39) R678W probably damaging Het
Il21r T A 7: 125,229,891 (GRCm39) I266K possibly damaging Het
Itgb4 C T 11: 115,874,983 (GRCm39) R447W probably benign Het
Kif26b T C 1: 178,744,970 (GRCm39) S1689P probably damaging Het
L3mbtl2 A G 15: 81,566,128 (GRCm39) E317G probably damaging Het
Lgr6 C T 1: 134,921,748 (GRCm39) A199T probably damaging Het
Lratd1 T A 12: 14,200,646 (GRCm39) D27V probably damaging Het
Lrr1 A G 12: 69,221,589 (GRCm39) N244D probably damaging Het
Lrrk2 A T 15: 91,586,450 (GRCm39) H422L probably benign Het
Map4k5 A G 12: 69,899,514 (GRCm39) S46P probably damaging Het
Ngf A G 3: 102,417,113 (GRCm39) probably benign Het
Nploc4 T C 11: 120,276,691 (GRCm39) I452V probably benign Het
Oas1d T A 5: 121,057,244 (GRCm39) Y283* probably null Het
Or52h1 A T 7: 103,829,261 (GRCm39) M118K possibly damaging Het
Or56b35 A T 7: 104,963,264 (GRCm39) I18F probably benign Het
Or5b109 A G 19: 13,211,785 (GRCm39) H57R probably damaging Het
Or5l13 T C 2: 87,779,779 (GRCm39) N266S probably benign Het
Pdzrn4 A T 15: 92,655,562 (GRCm39) E485V probably damaging Het
Peg3 A G 7: 6,712,810 (GRCm39) V804A probably damaging Het
Piezo2 T A 18: 63,250,749 (GRCm39) Y450F possibly damaging Het
Pprc1 T A 19: 46,052,849 (GRCm39) V789E probably damaging Het
Prcc A G 3: 87,769,454 (GRCm39) M436T possibly damaging Het
Prepl A T 17: 85,377,859 (GRCm39) V507D probably damaging Het
Rag1 T A 2: 101,474,797 (GRCm39) N115I possibly damaging Het
Rap1gap T C 4: 137,409,068 (GRCm39) probably null Het
Reln A C 5: 22,265,331 (GRCm39) F454V probably damaging Het
Slc39a11 A T 11: 113,354,780 (GRCm39) S150T probably benign Het
Slc45a1 T A 4: 150,722,817 (GRCm39) I356F possibly damaging Het
Snrnp200 G A 2: 127,060,343 (GRCm39) G529D possibly damaging Het
Stkld1 A T 2: 26,839,393 (GRCm39) D353V possibly damaging Het
Susd2 T C 10: 75,473,880 (GRCm39) S572G probably damaging Het
Synrg T A 11: 83,899,484 (GRCm39) D563E probably damaging Het
Tmem131 C T 1: 36,858,209 (GRCm39) V713I probably benign Het
Tnfrsf8 A G 4: 145,004,094 (GRCm39) probably null Het
Trim26 C T 17: 37,167,110 (GRCm39) A267V probably benign Het
Trpm1 T G 7: 63,918,226 (GRCm39) F522C possibly damaging Het
Uggt1 T C 1: 36,273,997 (GRCm39) I29V probably benign Het
Unc5d C T 8: 29,156,820 (GRCm39) M808I probably benign Het
Vmn2r108 T A 17: 20,683,371 (GRCm39) D611V possibly damaging Het
Vps13a A C 19: 16,664,534 (GRCm39) Y1436* probably null Het
Wdfy3 C T 5: 102,020,831 (GRCm39) R2491Q possibly damaging Het
Zfp518a G T 19: 40,901,225 (GRCm39) V385F probably benign Het
Zfp541 C T 7: 15,829,451 (GRCm39) A1222V probably benign Het
Zfp709 TCGACG TCG 8: 72,644,552 (GRCm39) probably benign Het
Other mutations in Ehbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ehbp1 APN 11 22,197,967 (GRCm39) splice site probably benign
IGL00786:Ehbp1 APN 11 22,050,460 (GRCm39) missense possibly damaging 0.79
IGL01308:Ehbp1 APN 11 22,088,022 (GRCm39) missense probably damaging 1.00
IGL01322:Ehbp1 APN 11 22,039,636 (GRCm39) missense probably damaging 1.00
IGL01590:Ehbp1 APN 11 22,045,611 (GRCm39) missense possibly damaging 0.91
IGL01611:Ehbp1 APN 11 22,122,883 (GRCm39) missense probably damaging 0.98
IGL01636:Ehbp1 APN 11 22,039,584 (GRCm39) missense probably benign 0.03
IGL01728:Ehbp1 APN 11 22,051,115 (GRCm39) missense probably damaging 1.00
IGL02012:Ehbp1 APN 11 22,051,218 (GRCm39) missense probably damaging 1.00
IGL02034:Ehbp1 APN 11 22,235,486 (GRCm39) critical splice donor site probably null
IGL02324:Ehbp1 APN 11 22,046,048 (GRCm39) missense probably damaging 1.00
IGL02511:Ehbp1 APN 11 22,039,653 (GRCm39) missense probably damaging 1.00
trajan UTSW 11 22,101,850 (GRCm39) missense probably damaging 1.00
K7894:Ehbp1 UTSW 11 22,039,683 (GRCm39) splice site probably benign
PIT4418001:Ehbp1 UTSW 11 22,003,494 (GRCm39) missense probably damaging 1.00
R0218:Ehbp1 UTSW 11 22,181,992 (GRCm39) splice site probably benign
R0294:Ehbp1 UTSW 11 22,045,427 (GRCm39) missense probably benign 0.27
R0398:Ehbp1 UTSW 11 22,045,886 (GRCm39) missense probably damaging 0.99
R0420:Ehbp1 UTSW 11 22,101,836 (GRCm39) missense probably benign
R0468:Ehbp1 UTSW 11 22,119,184 (GRCm39) splice site probably benign
R0943:Ehbp1 UTSW 11 22,045,883 (GRCm39) missense probably benign 0.12
R1181:Ehbp1 UTSW 11 22,012,831 (GRCm39) missense probably benign 0.25
R1481:Ehbp1 UTSW 11 21,956,782 (GRCm39) makesense probably null
R1493:Ehbp1 UTSW 11 21,956,866 (GRCm39) missense probably damaging 1.00
R1563:Ehbp1 UTSW 11 22,009,231 (GRCm39) missense probably damaging 1.00
R1648:Ehbp1 UTSW 11 22,046,000 (GRCm39) missense probably damaging 1.00
R1656:Ehbp1 UTSW 11 22,096,694 (GRCm39) missense probably benign
R1696:Ehbp1 UTSW 11 22,003,441 (GRCm39) missense probably damaging 0.99
R1923:Ehbp1 UTSW 11 22,101,850 (GRCm39) missense probably damaging 1.00
R1950:Ehbp1 UTSW 11 22,009,228 (GRCm39) missense probably damaging 1.00
R2263:Ehbp1 UTSW 11 22,045,462 (GRCm39) missense probably benign
R2436:Ehbp1 UTSW 11 22,039,524 (GRCm39) critical splice donor site probably null
R3148:Ehbp1 UTSW 11 22,050,465 (GRCm39) missense probably damaging 1.00
R3973:Ehbp1 UTSW 11 22,087,867 (GRCm39) missense probably benign 0.00
R3974:Ehbp1 UTSW 11 22,087,867 (GRCm39) missense probably benign 0.00
R4030:Ehbp1 UTSW 11 22,235,498 (GRCm39) missense probably damaging 1.00
R4085:Ehbp1 UTSW 11 22,045,898 (GRCm39) missense possibly damaging 0.95
R4089:Ehbp1 UTSW 11 22,045,898 (GRCm39) missense possibly damaging 0.95
R4524:Ehbp1 UTSW 11 22,101,843 (GRCm39) missense probably damaging 1.00
R4641:Ehbp1 UTSW 11 22,045,892 (GRCm39) missense probably benign 0.00
R4873:Ehbp1 UTSW 11 22,051,164 (GRCm39) missense probably damaging 1.00
R4875:Ehbp1 UTSW 11 22,051,164 (GRCm39) missense probably damaging 1.00
R4914:Ehbp1 UTSW 11 22,096,592 (GRCm39) missense probably benign 0.20
R4915:Ehbp1 UTSW 11 22,096,592 (GRCm39) missense probably benign 0.20
R4916:Ehbp1 UTSW 11 22,096,592 (GRCm39) missense probably benign 0.20
R4917:Ehbp1 UTSW 11 22,096,592 (GRCm39) missense probably benign 0.20
R4918:Ehbp1 UTSW 11 22,096,592 (GRCm39) missense probably benign 0.20
R4929:Ehbp1 UTSW 11 22,189,169 (GRCm39) missense possibly damaging 0.48
R4995:Ehbp1 UTSW 11 22,051,073 (GRCm39) missense probably damaging 1.00
R5325:Ehbp1 UTSW 11 22,045,370 (GRCm39) missense possibly damaging 0.93
R5579:Ehbp1 UTSW 11 22,087,846 (GRCm39) missense probably damaging 1.00
R5979:Ehbp1 UTSW 11 22,101,887 (GRCm39) missense probably benign 0.06
R6025:Ehbp1 UTSW 11 22,189,156 (GRCm39) missense probably damaging 1.00
R6685:Ehbp1 UTSW 11 22,096,641 (GRCm39) missense probably benign 0.01
R6893:Ehbp1 UTSW 11 21,964,945 (GRCm39) missense probably damaging 1.00
R7127:Ehbp1 UTSW 11 22,003,529 (GRCm39) nonsense probably null
R7465:Ehbp1 UTSW 11 22,088,001 (GRCm39) missense probably benign
R7722:Ehbp1 UTSW 11 22,039,572 (GRCm39) missense probably null
R7724:Ehbp1 UTSW 11 22,039,572 (GRCm39) missense probably null
R7797:Ehbp1 UTSW 11 22,046,109 (GRCm39) missense possibly damaging 0.79
R7868:Ehbp1 UTSW 11 22,096,542 (GRCm39) nonsense probably null
R8088:Ehbp1 UTSW 11 22,039,572 (GRCm39) missense probably null
R8218:Ehbp1 UTSW 11 22,046,096 (GRCm39) missense possibly damaging 0.77
R8235:Ehbp1 UTSW 11 22,189,153 (GRCm39) missense probably damaging 1.00
R8267:Ehbp1 UTSW 11 22,096,562 (GRCm39) missense probably benign 0.02
R8318:Ehbp1 UTSW 11 22,087,980 (GRCm39) missense probably benign 0.05
R8334:Ehbp1 UTSW 11 21,957,170 (GRCm39) missense probably damaging 1.00
R8425:Ehbp1 UTSW 11 21,963,495 (GRCm39) missense probably damaging 1.00
R8439:Ehbp1 UTSW 11 22,046,109 (GRCm39) missense possibly damaging 0.79
R8493:Ehbp1 UTSW 11 22,235,842 (GRCm39) start gained probably benign
R8745:Ehbp1 UTSW 11 22,119,064 (GRCm39) missense possibly damaging 0.78
R8824:Ehbp1 UTSW 11 22,182,053 (GRCm39) missense probably damaging 0.98
R8964:Ehbp1 UTSW 11 22,101,154 (GRCm39) nonsense probably null
R8987:Ehbp1 UTSW 11 22,003,531 (GRCm39) missense probably damaging 1.00
R9144:Ehbp1 UTSW 11 22,018,463 (GRCm39) missense probably damaging 1.00
R9187:Ehbp1 UTSW 11 22,101,184 (GRCm39) missense probably damaging 0.99
R9448:Ehbp1 UTSW 11 22,087,881 (GRCm39) missense probably benign
R9549:Ehbp1 UTSW 11 22,012,788 (GRCm39) missense probably benign 0.44
R9612:Ehbp1 UTSW 11 22,119,124 (GRCm39) missense probably damaging 0.99
R9645:Ehbp1 UTSW 11 22,051,052 (GRCm39) missense probably damaging 1.00
R9678:Ehbp1 UTSW 11 22,101,108 (GRCm39) missense possibly damaging 0.89
R9745:Ehbp1 UTSW 11 22,096,692 (GRCm39) missense probably benign 0.19
RF016:Ehbp1 UTSW 11 22,096,646 (GRCm39) missense probably benign
RF037:Ehbp1 UTSW 11 21,956,783 (GRCm39) small deletion probably benign
X0018:Ehbp1 UTSW 11 22,051,085 (GRCm39) missense probably damaging 1.00
Z1176:Ehbp1 UTSW 11 22,045,590 (GRCm39) missense probably benign 0.03
Predicted Primers
Posted On 2018-03-15