Incidental Mutation 'R8964:Ehbp1'
ID 682628
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 068798-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R8964 (G1)
Quality Score 225.009
Status Validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 22101154 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamine to Stop codon at position 259 (Q259*)
Ref Sequence ENSEMBL: ENSMUSP00000105191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000134293] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably null
Transcript: ENSMUST00000045167
AA Change: Q259*
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: Q259*

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: Q259*
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: Q259*

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 null
Transcript: ENSMUST00000134293
AA Change: Q224*
SMART Domains Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: Q224*

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 probably null
Transcript: ENSMUST00000180360
AA Change: Q259*
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: Q259*

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: 99.5%
  • 20x: 98.2%
Validation Efficiency 100% (80/80)
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: 81 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933402N03Rik C T 7: 130,740,716 (GRCm39) V167M probably benign Het
Abca6 G A 11: 110,139,363 (GRCm39) P37L probably benign Het
Abca9 A T 11: 110,038,075 (GRCm39) Y490* probably null Het
Abcb11 A G 2: 69,117,061 (GRCm39) V529A possibly damaging Het
Acox2 G T 14: 8,243,768 (GRCm38) Y529* probably null Het
Acte1 A G 7: 143,423,030 (GRCm39) T39A probably benign Het
Adck2 G T 6: 39,551,083 (GRCm39) probably benign Het
Agxt T A 1: 93,072,869 (GRCm39) C409S possibly damaging Het
Ahsa1 T A 12: 87,318,131 (GRCm39) I164N probably damaging Het
Arhgef1 A G 7: 24,622,462 (GRCm39) E647G probably damaging Het
Axin1 T G 17: 26,361,718 (GRCm39) F21V probably damaging Het
B3galnt1 A G 3: 69,482,589 (GRCm39) I224T probably damaging Het
Bche T C 3: 73,608,406 (GRCm39) K340R probably benign Het
Bpifb5 T A 2: 154,072,198 (GRCm39) W302R possibly damaging Het
Cd72 G A 4: 43,450,218 (GRCm39) T230I probably damaging Het
Cdc42ep4 T A 11: 113,620,278 (GRCm39) M38L probably damaging Het
Cdcp1 G A 9: 123,012,561 (GRCm39) Q329* probably null Het
Clps C A 17: 28,777,730 (GRCm39) probably benign Het
Cluap1 A G 16: 3,729,334 (GRCm39) probably benign Het
CN725425 C T 15: 91,119,972 (GRCm39) S31L possibly damaging Het
Cnbp T C 6: 87,821,086 (GRCm39) N158D probably benign Het
Crebbp A G 16: 3,909,753 (GRCm39) F1545S probably damaging Het
Cyp39a1 A T 17: 44,002,558 (GRCm39) T258S probably benign Het
Dclk2 T C 3: 86,743,698 (GRCm39) D257G probably damaging Het
Dock7 A T 4: 98,949,476 (GRCm39) D455E Het
Eif3a A T 19: 60,751,630 (GRCm39) D1228E unknown Het
Has2 A T 15: 56,531,061 (GRCm39) D551E probably damaging Het
Herc1 T A 9: 66,352,872 (GRCm39) N2119K probably damaging Het
Hsdl1 C T 8: 120,292,899 (GRCm39) A179T probably benign Het
Htt T A 5: 35,062,720 (GRCm39) M2818K probably benign Het
Il18bp A G 7: 101,665,591 (GRCm39) S80P possibly damaging Het
Ints10 A G 8: 69,264,631 (GRCm39) M455V probably benign Het
Ipcef1 T C 10: 6,869,789 (GRCm39) T255A possibly damaging Het
Krt1 AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC AAGCTGCCACCCCCAAAGCCACCACCGCCGTAGCTGCCACCCCCAAAGCCACCAC 15: 101,758,813 (GRCm39) probably benign Het
Lrba T A 3: 86,258,552 (GRCm39) D1346E probably benign Het
Mdm1 T A 10: 118,002,585 (GRCm39) D635E probably damaging Het
Met C T 6: 17,527,144 (GRCm39) P532S probably damaging Het
Nlrc5 T A 8: 95,232,116 (GRCm39) M1314K possibly damaging Het
Notch1 A T 2: 26,371,062 (GRCm39) S341R possibly damaging Het
Nr3c2 T G 8: 77,881,941 (GRCm39) L670V probably damaging Het
Nuak1 C T 10: 84,210,734 (GRCm39) M451I probably benign Het
Nubp1 G A 16: 10,238,894 (GRCm39) V170I probably benign Het
Or5v1 G A 17: 37,809,664 (GRCm39) G41S probably damaging Het
Or9g8 T A 2: 85,606,964 (GRCm39) I12N probably damaging Het
Pamr1 T C 2: 102,464,811 (GRCm39) V320A possibly damaging Het
Pcdhb11 T A 18: 37,556,660 (GRCm39) N663K probably benign Het
Pcnx1 G A 12: 82,039,812 (GRCm39) G1400D Het
Pdxk A T 10: 78,283,771 (GRCm39) V141E probably benign Het
Pex5 A T 6: 124,375,740 (GRCm39) N520K probably benign Het
Pklr T C 3: 89,050,036 (GRCm39) V337A probably benign Het
Polb T C 8: 23,143,341 (GRCm39) D17G probably damaging Het
Ppp1r9b T C 11: 94,882,705 (GRCm39) L111P probably damaging Het
Prl3d1 A G 13: 27,283,926 (GRCm39) E165G possibly damaging Het
Prpf40a A G 2: 53,035,906 (GRCm39) F657S probably damaging Het
Ptgs2 C T 1: 149,980,798 (GRCm39) R455C probably damaging Het
Pzp T A 6: 128,464,462 (GRCm39) D1355V probably benign Het
Rasl12 T A 9: 65,314,913 (GRCm39) V72D probably damaging Het
Rfx2 C A 17: 57,093,696 (GRCm39) R266L probably damaging Het
Rnaseh2a T C 8: 85,686,434 (GRCm39) D204G probably benign Het
S1pr3 A C 13: 51,573,248 (GRCm39) K143T probably damaging Het
Sdr39u1 C A 14: 56,135,170 (GRCm39) A258S possibly damaging Het
Sntb2 T A 8: 107,707,808 (GRCm39) S191T possibly damaging Het
Sod3 T A 5: 52,525,696 (GRCm39) F132I probably damaging Het
Sorcs2 C T 5: 36,386,511 (GRCm39) V176I possibly damaging Het
Syne1 T C 10: 5,060,872 (GRCm39) I7256V Het
Tbc1d22b A G 17: 29,819,202 (GRCm39) E459G probably damaging Het
Tbkbp1 A G 11: 97,037,169 (GRCm39) S278P probably damaging Het
Thoc5 A T 11: 4,860,647 (GRCm39) E245D possibly damaging Het
Tmc7 G A 7: 118,160,228 (GRCm39) P203L probably benign Het
Tns2 T C 15: 102,011,553 (GRCm39) L11P possibly damaging Het
Trip11 A G 12: 101,811,315 (GRCm39) probably null Het
Ttn T G 2: 76,551,309 (GRCm39) Y31361S probably damaging Het
Vars2 T C 17: 35,970,699 (GRCm39) E678G possibly damaging Het
Vav1 C A 17: 57,606,122 (GRCm39) H249N probably benign Het
Vmn2r9 T A 5: 108,996,031 (GRCm39) I206L probably benign Het
Vps4a T C 8: 107,771,686 (GRCm39) S410P probably damaging Het
Wdr82 T C 9: 106,053,861 (GRCm39) Y71H possibly damaging Het
Zfand1 A G 3: 10,413,631 (GRCm39) Y19H probably benign Het
Zfp365 A T 10: 67,745,088 (GRCm39) I230N probably damaging Het
Zfp763 T C 17: 33,240,710 (GRCm39) T40A probably benign Het
Zfp788 A T 7: 41,297,003 (GRCm39) D51V probably damaging 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
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
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'- GTCTACATTTACAGCTCGAGAAAAC -3'
(R):5'- AAATACTCGAATGGCATTCTGC -3'

Sequencing Primer
(F):5'- GTCAGTGTGCATTATCACTTGC -3'
(R):5'- GCATTCTGCCACTCATAAAATACTG -3'
Posted On 2021-10-11