Incidental Mutation 'R8425:Ehbp1'
ID 653426
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 067819-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R8425 (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 G at 21963495 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 1160 (L1160P)
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: L1135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: L1135P

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: L1160P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: L1160P

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: L1135P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: L1135P

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: 98.9%
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: 71 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700013D24Rik T C 6: 124,324,745 (GRCm39) E92G possibly damaging Het
Aasdh A T 5: 77,034,124 (GRCm39) Y476N possibly damaging Het
Abca13 G T 11: 9,264,623 (GRCm39) V3002F possibly damaging Het
Adam23 C T 1: 63,624,536 (GRCm39) T788I probably damaging Het
Adgrb2 A G 4: 129,898,850 (GRCm39) T282A possibly damaging Het
Adgrg1 T C 8: 95,735,035 (GRCm39) Y402H probably damaging Het
Agpat2 A T 2: 26,483,666 (GRCm39) L257Q probably benign Het
Agpat3 A T 10: 78,118,211 (GRCm39) V255E possibly damaging Het
Akap6 A G 12: 52,933,404 (GRCm39) I299V probably benign Het
Anapc1 A T 2: 128,511,788 (GRCm39) F468L probably damaging Het
Apob T A 12: 8,038,842 (GRCm39) N431K possibly damaging Het
Asprv1 T A 6: 86,605,851 (GRCm39) D232E probably benign Het
AW209491 A G 13: 14,811,921 (GRCm39) Y258C probably damaging Het
Bach2 C T 4: 32,562,316 (GRCm39) P261L probably benign Het
Cap2 T A 13: 46,763,208 (GRCm39) I146K probably damaging Het
Catsperb A T 12: 101,569,028 (GRCm39) Q900L probably benign Het
Ccdc187 A T 2: 26,171,548 (GRCm39) V310D probably damaging Het
Cenpe G T 3: 134,948,388 (GRCm39) G1275* probably null Het
Chd8 C T 14: 52,448,012 (GRCm39) G1663D probably damaging Het
Col6a5 T A 9: 105,823,156 (GRCm39) Y67F unknown Het
Cuzd1 G T 7: 130,919,720 (GRCm39) T132K possibly damaging Het
Ddr2 T A 1: 169,863,585 (GRCm39) probably benign Het
Ddx42 T C 11: 106,138,550 (GRCm39) I783T probably benign Het
Dennd4a T A 9: 64,746,256 (GRCm39) D47E probably damaging Het
Dvl2 T G 11: 69,898,673 (GRCm39) W379G probably damaging Het
Eml6 A G 11: 29,705,008 (GRCm39) V1512A probably benign Het
Ephb6 T C 6: 41,595,580 (GRCm39) S780P probably damaging Het
Exo5 G A 4: 120,779,560 (GRCm39) L102F probably benign Het
Fam220a A T 5: 143,548,594 (GRCm39) K2M possibly damaging Het
Fanci A T 7: 79,083,289 (GRCm39) I731L probably benign Het
Gbp8 A G 5: 105,165,640 (GRCm39) S338P probably damaging Het
H2-M11 T C 17: 36,859,649 (GRCm39) I214T probably benign Het
Hhatl C A 9: 121,618,168 (GRCm39) A196S probably benign Het
Hspg2 C A 4: 137,278,178 (GRCm39) C2988* probably null Het
Ifi213 A G 1: 173,417,426 (GRCm39) S329P probably benign Het
Lingo3 G T 10: 80,670,816 (GRCm39) F371L probably benign Het
Maml2 C T 9: 13,531,413 (GRCm39) T209I Het
Ndufaf3 T C 9: 108,444,182 (GRCm39) probably benign Het
Nfatc2 C T 2: 168,378,216 (GRCm39) G483E probably damaging Het
Npy6r A C 18: 44,409,070 (GRCm39) T164P probably benign Het
Omg T C 11: 79,392,826 (GRCm39) E344G possibly damaging Het
Or2g25 T A 17: 37,970,975 (GRCm39) N83I probably damaging Het
Or2h15 T C 17: 38,441,927 (GRCm39) D52G possibly damaging Het
Or4c116 T A 2: 88,942,737 (GRCm39) N40Y probably damaging Het
Or52n20 A G 7: 104,320,502 (GRCm39) N198D probably damaging Het
Or5k1 A G 16: 58,617,966 (GRCm39) M81T probably benign Het
Or9i1 T C 19: 13,839,849 (GRCm39) S231P probably benign Het
P2rx7 A G 5: 122,808,521 (GRCm39) E301G probably damaging Het
Phf8-ps C A 17: 33,286,038 (GRCm39) A255S probably benign Het
Pkhd1l1 T C 15: 44,437,911 (GRCm39) S3569P probably benign Het
Pkn3 G A 2: 29,976,513 (GRCm39) probably null Het
Proc C T 18: 32,256,411 (GRCm39) V419M probably damaging Het
Prss37 C T 6: 40,493,052 (GRCm39) W138* probably null Het
Prss52 T A 14: 64,350,009 (GRCm39) L212* probably null Het
Rnps1 A G 17: 24,637,143 (GRCm39) K8E unknown Het
Rpf2 A T 10: 40,101,429 (GRCm39) L202* probably null Het
Saraf C T 8: 34,632,602 (GRCm39) P227L probably benign Het
Serpinb5 T A 1: 106,809,515 (GRCm39) M307K possibly damaging Het
Slc46a1 T C 11: 78,359,471 (GRCm39) S368P possibly damaging Het
Slc49a4 A T 16: 35,555,967 (GRCm39) N164K probably benign Het
Slfn8 T A 11: 82,895,441 (GRCm39) Q455L possibly damaging Het
Sv2b A G 7: 74,767,347 (GRCm39) M683T probably damaging Het
Tacc3 G T 5: 33,821,874 (GRCm39) L211F unknown Het
Tbc1d8 A G 1: 39,420,490 (GRCm39) V681A probably damaging Het
Tbkbp1 T C 11: 97,029,677 (GRCm39) E493G unknown Het
Th A T 7: 142,447,823 (GRCm39) V420E possibly damaging Het
Tmem132c T G 5: 127,641,421 (GRCm39) V115G Het
Usp40 G A 1: 87,887,558 (GRCm39) R915C probably benign Het
Wdr81 T A 11: 75,342,348 (GRCm39) H973L possibly damaging Het
Zdhhc6 A G 19: 55,302,876 (GRCm39) S42P probably benign Het
Zfp369 T A 13: 65,444,489 (GRCm39) I544N possibly 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
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'- CTTTCAATGGCTAGCATGGC -3'
(R):5'- TCAACTAACGCAGGTTTGGG -3'

Sequencing Primer
(F):5'- AGCATGGCCCTCCTCAC -3'
(R):5'- ACTAACGCAGGTTTGGGGTCTG -3'
Posted On 2020-10-20