Incidental Mutation 'R9645:Ehbp1'
ID 726225
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R9645 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 22051052 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Asparagine at position 500 (I500N)
Ref Sequence ENSEMBL: ENSMUSP00000105191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000045167
AA Change: I475N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: I475N

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 damaging
Transcript: ENSMUST00000109563
AA Change: I500N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: I500N

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 damaging
Transcript: ENSMUST00000180360
AA Change: I475N

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: I475N

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: 99.7%
  • 20x: 99.0%
Validation Efficiency
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: 72 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430033K04Rik T C 5: 138,644,793 (GRCm39) V226A probably benign Het
Acan G T 7: 78,749,653 (GRCm39) V1475F probably benign Het
Acin1 T A 14: 54,901,913 (GRCm39) R626S probably benign Het
Aff3 T C 1: 38,249,121 (GRCm39) K662R probably damaging Het
Ankrd11 C T 8: 123,617,682 (GRCm39) A2057T probably benign Het
Ano9 T G 7: 140,687,388 (GRCm39) N309T probably benign Het
Ap3d1 G A 10: 80,545,062 (GRCm39) S1092L probably benign Het
B4galt7 C T 13: 55,756,556 (GRCm39) H257Y probably damaging Het
BC051665 G T 13: 60,932,545 (GRCm39) Q47K possibly damaging Het
Brip1 A G 11: 85,952,512 (GRCm39) F1090L probably benign Het
Cabin1 A G 10: 75,494,543 (GRCm39) V1612A probably benign Het
Ccar1 A T 10: 62,602,369 (GRCm39) D434E probably benign Het
Ccdc15 T C 9: 37,227,083 (GRCm39) D297G probably benign Het
Celsr3 C A 9: 108,704,691 (GRCm39) Y391* probably null Het
Cfap52 A G 11: 67,837,179 (GRCm39) I194T possibly damaging Het
Ctif T C 18: 75,757,352 (GRCm39) E67G probably benign Het
Cxcr6 T C 9: 123,639,151 (GRCm39) F58L possibly damaging Het
Cyp2c69 T C 19: 39,869,593 (GRCm39) E142G probably damaging Het
Dnah6 T A 6: 73,115,750 (GRCm39) R1549S possibly damaging Het
Duxf3 A T 10: 58,066,803 (GRCm39) H75Q probably benign Het
F13a1 A T 13: 37,082,154 (GRCm39) S517T probably benign Het
Fbln7 C T 2: 128,719,316 (GRCm39) R38C probably damaging Het
Fn1 T C 1: 71,667,629 (GRCm39) N788S probably benign Het
Foxc1 A T 13: 31,991,882 (GRCm39) E231V probably damaging Het
Gal3st2b T C 1: 93,866,328 (GRCm39) S10P probably damaging Het
Gm6899 G A 11: 26,543,592 (GRCm39) C53Y unknown Het
Hps3 T C 3: 20,084,831 (GRCm39) E119G probably benign Het
Impg2 A G 16: 56,038,767 (GRCm39) E135G probably damaging Het
Kalrn G A 16: 34,032,583 (GRCm39) T1155M probably benign Het
Kcna6 G A 6: 126,716,022 (GRCm39) A289V probably benign Het
Kcnh5 T C 12: 75,134,191 (GRCm39) M453V probably benign Het
Krt222 A G 11: 99,131,320 (GRCm39) V75A possibly damaging Het
Lmtk3 A T 7: 45,450,431 (GRCm39) T1432S unknown Het
Ltbp2 G A 12: 84,837,864 (GRCm39) P1192L probably benign Het
Ltbp3 C G 19: 5,802,099 (GRCm39) N758K probably damaging Het
Map6d1 T A 16: 20,055,377 (GRCm39) H153L possibly damaging Het
Mefv A G 16: 3,528,782 (GRCm39) L583P probably damaging Het
Mrps28 T C 3: 8,867,389 (GRCm39) T160A probably damaging Het
Mtcl2 T C 2: 156,869,390 (GRCm39) K1082E probably damaging Het
Muc6 T C 7: 141,217,783 (GRCm39) T2297A possibly damaging Het
Mx1 G T 16: 97,253,409 (GRCm39) D338E probably benign Het
Myom1 G A 17: 71,399,204 (GRCm39) R1120H probably benign Het
Nif3l1 T C 1: 58,487,074 (GRCm39) F87L probably benign Het
Or1e35 T A 11: 73,797,713 (GRCm39) M202L probably benign Het
Or4p22 T C 2: 88,317,373 (GRCm39) V99A possibly damaging Het
Pex10 T A 4: 155,153,264 (GRCm39) L111Q probably damaging Het
Phf1 T C 17: 27,154,130 (GRCm39) probably null Het
Pigp A T 16: 94,166,278 (GRCm39) Y143* probably null Het
Pou2af2 A G 9: 51,229,579 (GRCm39) probably null Het
Prrc2a A G 17: 35,381,176 (GRCm39) probably null Het
Psd GCC GC 19: 46,301,841 (GRCm39) probably null Het
Pum3 A G 19: 27,403,412 (GRCm39) S30P probably benign Het
Rab12 A G 17: 66,826,421 (GRCm39) S97P probably damaging Het
Rigi T C 4: 40,220,437 (GRCm39) E482G possibly damaging Het
Ros1 A G 10: 51,948,148 (GRCm39) probably null Het
Scp2 A T 4: 107,948,519 (GRCm39) Y197N probably benign Het
Serpinb10 T C 1: 107,474,488 (GRCm39) F217L possibly damaging Het
Shank3 T G 15: 89,409,453 (GRCm39) M604R possibly damaging Het
Slc22a29 A G 19: 8,184,488 (GRCm39) S238P probably benign Het
Smarcc1 A G 9: 109,986,410 (GRCm39) D237G probably damaging Het
Stag3 T C 5: 138,299,701 (GRCm39) S871P possibly damaging Het
Tmem132d A G 5: 128,346,075 (GRCm39) F149S probably damaging Het
Tmem25 C T 9: 44,706,515 (GRCm39) E333K Het
Togaram1 T A 12: 65,066,082 (GRCm39) Y1695* probably null Het
Tox3 G A 8: 90,984,574 (GRCm39) P202S probably damaging Het
Trim34b T A 7: 103,980,474 (GRCm39) N187K probably benign Het
Vcan A G 13: 89,841,081 (GRCm39) S1488P probably benign Het
Vps26a A C 10: 62,305,791 (GRCm39) V124G probably benign Het
Vps50 T G 6: 3,516,706 (GRCm39) S63A possibly damaging Het
Wbp4 T A 14: 79,707,553 (GRCm39) E186V possibly damaging Het
Zfp52 A G 17: 21,781,937 (GRCm39) D595G possibly damaging Het
Zfr2 C A 10: 81,084,252 (GRCm39) S1* 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
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
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'- TCAATATACGACGGGCTGTAGG -3'
(R):5'- TACCAAGTCCTGTTCTGGGG -3'

Sequencing Primer
(F):5'- TTTAAAGGAAAACCTGCTCTTAGG -3'
(R):5'- TCCTGTTCTGGGGCAAAAGC -3'
Posted On 2022-09-12