Incidental Mutation 'R7797:Ehbp1'
ID 600297
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 045853-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R7797 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22046109 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Valine at position 547 (M547V)
Ref Sequence ENSEMBL: ENSMUSP00000105191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect possibly damaging
Transcript: ENSMUST00000045167
AA Change: M522V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: M522V

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 possibly damaging
Transcript: ENSMUST00000109563
AA Change: M547V

PolyPhen 2 Score 0.789 (Sensitivity: 0.85; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: M547V

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 possibly damaging
Transcript: ENSMUST00000180360
AA Change: M522V

PolyPhen 2 Score 0.915 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: M522V

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: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.9%
Validation Efficiency 100% (68/68)
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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca8b A G 11: 109,862,509 (GRCm39) probably null Het
Adam3 T G 8: 25,184,660 (GRCm39) N535T probably damaging Het
Adam34l T A 8: 44,079,411 (GRCm39) E271V probably benign Het
Adamts4 A G 1: 171,085,387 (GRCm39) K679E probably damaging Het
Arnt G A 3: 95,387,572 (GRCm39) probably null Het
Asah2 A G 19: 31,999,761 (GRCm39) F321L probably damaging Het
Asb15 T C 6: 24,562,505 (GRCm39) S156P probably damaging Het
Baiap2l1 A C 5: 144,255,760 (GRCm39) S65A probably damaging Het
Bend7 T G 2: 4,754,455 (GRCm39) M186R probably damaging Het
Blnk T C 19: 40,948,232 (GRCm39) K146E possibly damaging Het
Cd19 A G 7: 126,012,680 (GRCm39) W238R probably damaging Het
Cd44 T A 2: 102,679,079 (GRCm39) N241I probably benign Het
Cdh23 T C 10: 60,220,973 (GRCm39) E1257G probably benign Het
Cfap300 G T 9: 8,027,130 (GRCm39) P136Q possibly damaging Het
Cntnap5c T C 17: 58,666,270 (GRCm39) V1100A probably benign Het
Cul7 T C 17: 46,969,568 (GRCm39) V945A possibly damaging Het
Dock2 C T 11: 34,232,652 (GRCm39) C1116Y probably damaging Het
Fam50b G A 13: 34,931,084 (GRCm39) E187K possibly damaging Het
Grhl3 C G 4: 135,286,416 (GRCm39) K88N possibly damaging Het
Hbb-y T A 7: 103,501,088 (GRCm39) Y146F probably damaging Het
Hivep2 T C 10: 14,005,847 (GRCm39) V815A probably benign Het
Hoxa7 T A 6: 52,192,870 (GRCm39) I173F probably damaging Het
Igkv1-110 T G 6: 68,247,977 (GRCm39) S29A probably benign Het
Jade2 A G 11: 51,708,126 (GRCm39) S696P probably benign Het
Kif1b T A 4: 149,321,844 (GRCm39) Q1025L probably benign Het
Kif2c A T 4: 117,028,940 (GRCm39) C241S probably benign Het
Kmt2d G T 15: 98,762,287 (GRCm39) H400N probably benign Het
Krt35 T A 11: 99,985,713 (GRCm39) N174Y probably damaging Het
Ldlrad1 G A 4: 107,066,688 (GRCm39) A8T probably benign Het
Magi3 A G 3: 103,958,618 (GRCm39) V489A probably damaging Het
Mapk7 T C 11: 61,380,241 (GRCm39) E739G possibly damaging Het
Mcidas G A 13: 113,135,521 (GRCm39) G315S probably damaging Het
Mdga1 C T 17: 30,061,814 (GRCm39) probably null Het
Megf8 G A 7: 25,034,022 (GRCm39) R607H probably damaging Het
Met T A 6: 17,533,952 (GRCm39) N634K probably damaging Het
Miip C T 4: 147,947,375 (GRCm39) G236S probably benign Het
Mmp11 G T 10: 75,759,314 (GRCm39) T107K Het
Mroh2b A C 15: 4,978,587 (GRCm39) N1378H probably benign Het
Naa15 G A 3: 51,356,031 (GRCm39) C322Y probably damaging Het
Naip1 T A 13: 100,580,986 (GRCm39) Y87F probably damaging Het
Ngrn A G 7: 79,914,185 (GRCm39) D112G probably benign Het
Osbpl1a C A 18: 13,015,321 (GRCm39) C369F probably damaging Het
Pcnx2 G C 8: 126,512,087 (GRCm39) D1406E possibly damaging Het
Phf8-ps T C 17: 33,286,664 (GRCm39) D46G probably damaging Het
Pold1 G A 7: 44,191,213 (GRCm39) P206L probably benign Het
Psen1 A G 12: 83,746,396 (GRCm39) S20G probably benign Het
Ptpn23 C T 9: 110,222,875 (GRCm39) D61N possibly damaging Het
Rbfox3 A T 11: 118,387,310 (GRCm39) L268Q possibly damaging Het
Rbm22 A G 18: 60,694,344 (GRCm39) T26A probably damaging Het
Rpgrip1 G A 14: 52,371,277 (GRCm39) R332Q possibly damaging Het
Rrm2b A T 15: 37,927,505 (GRCm39) L347* probably null Het
Rsf1 A T 7: 97,310,692 (GRCm39) D474V Het
Ryr2 C T 13: 11,816,066 (GRCm39) R640Q probably damaging Het
Sec16b A G 1: 157,389,245 (GRCm39) E691G unknown Het
Septin1 A T 7: 126,813,937 (GRCm39) V365E unknown Het
Tlk2 A G 11: 105,101,444 (GRCm39) H114R probably benign Het
Tmem200a A G 10: 25,869,864 (GRCm39) I135T possibly damaging Het
Tpst2 T A 5: 112,455,782 (GRCm39) V107E probably damaging Het
Trim30a A T 7: 104,060,407 (GRCm39) D456E possibly damaging Het
Ttll3 T C 6: 113,371,738 (GRCm39) V45A possibly damaging Het
Ulk2 A G 11: 61,672,928 (GRCm39) Y889H probably benign Het
Umodl1 A G 17: 31,178,125 (GRCm39) S34G probably benign Het
Vmn1r67 A G 7: 10,180,903 (GRCm39) I56V probably benign Het
Vmn2r120 C T 17: 57,815,874 (GRCm39) G827E probably damaging Het
Zc3h6 T C 2: 128,857,555 (GRCm39) probably null 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
R6259:Ehbp1 UTSW 11 22,235,684 (GRCm39) start gained probably benign
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
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 PCR Primer
(F):5'- AGTTACAAACACAGAGTCATCCTG -3'
(R):5'- GTGTCAGTAATTTTATGTGCCCTAC -3'

Sequencing Primer
(F):5'- AGGTTCAGGCTCTCGCTTCAG -3'
(R):5'- CTCAGTGTACCGTCTGTT -3'
Posted On 2019-11-26