Incidental Mutation 'R1481:Ehbp1'
ID 164386
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 039534-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R1481 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 21956782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Tryptophan at position 1207 (*1207W)
Ref Sequence ENSEMBL: ENSMUSP00000136697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000147486] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably null
Transcript: ENSMUST00000045167
AA Change: *1207W
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: *1207W

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 null
Transcript: ENSMUST00000109563
AA Change: *1232W
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: *1232W

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: ENSMUST00000147486
SMART Domains Protein: ENSMUSP00000134704
Gene: ENSMUSG00000005917

DomainStartEndE-ValueType
HOX 38 100 1.21e-25 SMART
low complexity region 117 125 N/A INTRINSIC
low complexity region 133 147 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000180360
AA Change: *1207W
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: *1207W

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
Meta Mutation Damage Score 0.9466 question?
Coding Region Coverage
  • 1x: 99.1%
  • 3x: 98.3%
  • 10x: 96.3%
  • 20x: 92.6%
Validation Efficiency 100% (71/71)
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: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef5 A G 6: 43,251,568 (GRCm39) H773R probably damaging Het
Bltp1 T C 3: 37,062,583 (GRCm39) V3365A probably damaging Het
Bmp3 G A 5: 99,020,329 (GRCm39) V251M probably damaging Het
Ccdc175 C A 12: 72,148,722 (GRCm39) probably benign Het
Ccdc178 C T 18: 22,238,678 (GRCm39) G313D probably benign Het
Cd300ld2 T A 11: 114,903,459 (GRCm39) I129F probably benign Het
Cep170 T C 1: 176,609,951 (GRCm39) Q120R possibly damaging Het
Ckb T C 12: 111,637,696 (GRCm39) H145R probably benign Het
Cntnap5a T A 1: 116,045,393 (GRCm39) N336K probably damaging Het
Coil T A 11: 88,864,886 (GRCm39) C38S possibly damaging Het
Cps1 T C 1: 67,183,041 (GRCm39) V133A probably damaging Het
Cspg4 A G 9: 56,795,094 (GRCm39) E943G probably damaging Het
Cyp2c54 C T 19: 40,036,032 (GRCm39) D293N probably benign Het
Cyp2f2 T C 7: 26,821,302 (GRCm39) S72P probably benign Het
Dip2c G A 13: 9,601,902 (GRCm39) probably null Het
Dock6 T C 9: 21,731,918 (GRCm39) T1158A probably benign Het
Dscaml1 G A 9: 45,583,941 (GRCm39) V469I probably benign Het
Efcab14 A G 4: 115,613,714 (GRCm39) T221A probably benign Het
Eln T C 5: 134,735,426 (GRCm39) K786E probably damaging Het
Fyb1 C T 15: 6,649,128 (GRCm39) P385S probably benign Het
Galr1 A G 18: 82,423,866 (GRCm39) I137T possibly damaging Het
Gcm1 A T 9: 77,966,999 (GRCm39) K73* probably null Het
Gemin5 T C 11: 58,032,480 (GRCm39) N775D probably damaging Het
Gli3 C T 13: 15,788,435 (GRCm39) H147Y probably damaging Het
Gm10754 G T 10: 97,518,089 (GRCm39) probably benign Het
Gpr37 T C 6: 25,669,137 (GRCm39) D569G probably damaging Het
Grina T A 15: 76,133,289 (GRCm39) Y286N probably damaging Het
Gtf3c1 C A 7: 125,292,310 (GRCm39) probably null Het
Kcnc4 C T 3: 107,355,534 (GRCm39) V305M probably benign Het
Kntc1 T C 5: 123,916,338 (GRCm39) F724L probably benign Het
Kpnb1 T C 11: 97,069,136 (GRCm39) Y249C probably damaging Het
Krt6b T C 15: 101,586,809 (GRCm39) T269A probably benign Het
Lamc1 T C 1: 153,097,380 (GRCm39) K1555E probably damaging Het
Maneal T C 4: 124,755,650 (GRCm39) Y104C probably damaging Het
Map1b T C 13: 99,567,679 (GRCm39) T1681A unknown Het
Mettl17 T C 14: 52,128,160 (GRCm39) L272P probably benign Het
Mib2 T A 4: 155,741,456 (GRCm39) S357C probably benign Het
Mmp19 C A 10: 128,634,047 (GRCm39) T316K possibly damaging Het
Mroh9 C T 1: 162,854,078 (GRCm39) G774E probably damaging Het
Myh1 T C 11: 67,096,325 (GRCm39) probably benign Het
Ncor2 C A 5: 125,104,202 (GRCm39) E963* probably null Het
Nol6 T A 4: 41,123,596 (GRCm39) T51S probably benign Het
Nsun3 A T 16: 62,555,732 (GRCm39) C265S probably damaging Het
Nup214 C T 2: 31,924,478 (GRCm39) S1669F probably damaging Het
Nutm2 T A 13: 50,623,517 (GRCm39) N71K probably damaging Het
Or10a5 T G 7: 106,635,356 (GRCm39) L5R probably benign Het
Or5p73 C T 7: 108,065,167 (GRCm39) T212I probably benign Het
Orc3 T A 4: 34,607,228 (GRCm39) E34V possibly damaging Het
Pcdhb13 T A 18: 37,575,889 (GRCm39) L89Q probably damaging Het
Polr3a A T 14: 24,502,616 (GRCm39) V1241E probably null Het
Prpf39 C T 12: 65,100,088 (GRCm39) P135S probably damaging Het
Psrc1 T C 3: 108,292,309 (GRCm39) V34A probably benign Het
Rab27a G A 9: 72,989,684 (GRCm39) V52M probably benign Het
Rassf9 A G 10: 102,381,895 (GRCm39) T424A probably benign Het
Ripor3 G T 2: 167,842,297 (GRCm39) R61S possibly damaging Het
Ryr3 C T 2: 112,466,867 (GRCm39) probably benign Het
Samd4b C T 7: 28,113,435 (GRCm39) G177R probably damaging Het
Setbp1 C T 18: 78,826,516 (GRCm39) V1366M probably benign Het
Smad1 G A 8: 80,070,359 (GRCm39) A393V probably benign Het
Tctn2 T C 5: 124,745,826 (GRCm39) noncoding transcript Het
Tmem45a A T 16: 56,631,965 (GRCm39) F218I possibly damaging Het
Tpte A T 8: 22,845,487 (GRCm39) R512S probably damaging Het
Trim37 T A 11: 87,020,585 (GRCm39) L22* probably null Het
Ttc6 A G 12: 57,783,916 (GRCm39) N1792D probably damaging Het
Ttn A G 2: 76,775,960 (GRCm39) M1694T probably damaging Het
Vmn1r181 T A 7: 23,684,137 (GRCm39) W201R probably damaging Het
Wdr74 C T 19: 8,715,592 (GRCm39) L198F possibly damaging Het
Zfp560 T C 9: 20,260,086 (GRCm39) T259A 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
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
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 PCR Primer
(F):5'- CTTCAGTACCAGTCATTCACGGGG -3'
(R):5'- TTGTGTGAGAACGATGTGCCGC -3'

Sequencing Primer
(F):5'- CGCAAATCTACTTCACAGGATTTC -3'
(R):5'- GAGCGAACTCTGGAGCAAAA -3'
Posted On 2014-03-28