Incidental Mutation 'R0398:Ehbp1'
ID 32142
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 038603-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.859) question?
Stock # R0398 (G1)
Quality Score 225
Status Validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 22045886 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Aspartic acid to Glycine at position 596 (D596G)
Ref Sequence ENSEMBL: ENSMUSP00000136697 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably damaging
Transcript: ENSMUST00000045167
AA Change: D596G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: D596G

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: D621G

PolyPhen 2 Score 0.894 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: D621G

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: D596G

PolyPhen 2 Score 0.993 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: D596G

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 0.0863 question?
Coding Region Coverage
  • 1x: 98.8%
  • 3x: 97.6%
  • 10x: 93.8%
  • 20x: 83.2%
Validation Efficiency 100% (81/81)
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: 79 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abcb11 T C 2: 69,117,010 (GRCm39) Q546R probably null Het
Acr T G 15: 89,458,144 (GRCm39) V275G probably damaging Het
Adam5 A G 8: 25,303,448 (GRCm39) Y160H probably benign Het
Adcy5 T A 16: 35,089,438 (GRCm39) M545K probably damaging Het
Aoc2 A G 11: 101,216,379 (GRCm39) E154G possibly damaging Het
Atg2a T G 19: 6,296,608 (GRCm39) L338R probably damaging Het
Atp2a1 T C 7: 126,049,590 (GRCm39) probably benign Het
Bbs7 A G 3: 36,644,866 (GRCm39) S436P probably benign Het
Bpnt1 T C 1: 185,070,355 (GRCm39) Y16H probably benign Het
Cbll1 A T 12: 31,542,091 (GRCm39) F90Y probably damaging Het
Cbs G T 17: 31,836,216 (GRCm39) Q411K probably benign Het
Cdca2 A C 14: 67,935,411 (GRCm39) F435V probably damaging Het
Cdh13 T G 8: 120,040,786 (GRCm39) S664A probably damaging Het
Cdk17 T A 10: 93,073,702 (GRCm39) V438E probably benign Het
Cep295 T C 9: 15,266,032 (GRCm39) D40G possibly damaging Het
Col6a1 T C 10: 76,545,952 (GRCm39) H840R unknown Het
Cpa1 A G 6: 30,645,250 (GRCm39) T409A probably benign Het
Crlf1 G A 8: 70,951,739 (GRCm39) probably benign Het
E2f2 T A 4: 135,907,855 (GRCm39) I184N probably damaging Het
Elapor2 A G 5: 9,495,367 (GRCm39) R724G probably benign Het
Ets2 A G 16: 95,517,267 (GRCm39) Y333C probably damaging Het
Fam178b A G 1: 36,671,487 (GRCm39) probably benign Het
Fndc3b A G 3: 27,515,928 (GRCm39) V626A probably benign Het
Gart G T 16: 91,436,337 (GRCm39) A140E probably damaging Het
Gbp7 T C 3: 142,251,274 (GRCm39) S477P possibly damaging Het
Gm16380 T C 9: 53,791,453 (GRCm39) noncoding transcript Het
Hmcn1 C A 1: 150,674,565 (GRCm39) R579M possibly damaging Het
Hoxb8 A C 11: 96,173,937 (GRCm39) H50P probably damaging Het
Hspa4 C T 11: 53,163,706 (GRCm39) probably null Het
Hspa4l G A 3: 40,711,429 (GRCm39) probably benign Het
Hyal4 A T 6: 24,756,670 (GRCm39) Y296F probably damaging Het
Igsf8 C A 1: 172,145,066 (GRCm39) T131K probably damaging Het
Ilvbl C T 10: 78,415,373 (GRCm39) P298L probably damaging Het
Jak2 T A 19: 29,259,788 (GRCm39) I229N possibly damaging Het
Kif1b T C 4: 149,288,688 (GRCm39) D1205G possibly damaging Het
Lrrc63 T C 14: 75,363,910 (GRCm39) R74G probably benign Het
Lvrn A G 18: 47,013,760 (GRCm39) T481A probably benign Het
Macf1 T A 4: 123,244,810 (GRCm39) T7312S probably damaging Het
Magel2 C T 7: 62,030,299 (GRCm39) Q1068* probably null Het
Mrpl3 A G 9: 104,941,302 (GRCm39) Y203C probably damaging Het
Nek2 T A 1: 191,559,473 (GRCm39) I326N probably benign Het
Nlrc4 A C 17: 74,752,915 (GRCm39) N489K probably damaging Het
Nlrp4f A T 13: 65,342,732 (GRCm39) S304R possibly damaging Het
Ogfr C G 2: 180,235,492 (GRCm39) R189G probably damaging Het
Or52b4i T A 7: 102,191,899 (GRCm39) L252H probably damaging Het
Or5p78 T A 7: 108,212,162 (GRCm39) I216N probably benign Het
Or5w8 A T 2: 87,688,401 (GRCm39) N294I probably damaging Het
Orm3 A G 4: 63,275,885 (GRCm39) S145G probably benign Het
Pclo A G 5: 14,731,716 (GRCm39) E3406G unknown Het
Pcx T G 19: 4,651,638 (GRCm39) F4C probably benign Het
Pgd C A 4: 149,238,339 (GRCm39) G364V probably damaging Het
Pla2g12a C A 3: 129,684,045 (GRCm39) D102E probably benign Het
Pnpo A T 11: 96,833,253 (GRCm39) C82* probably null Het
Prdm1 T C 10: 44,315,805 (GRCm39) N792S probably damaging Het
Prim2 A T 1: 33,523,757 (GRCm39) probably benign Het
Proca1 C A 11: 78,096,094 (GRCm39) P242Q probably benign Het
Psmc5 A G 11: 106,152,370 (GRCm39) N129S probably benign Het
Ptchd4 A G 17: 42,688,150 (GRCm39) T231A possibly damaging Het
Qrfpr C T 3: 36,235,201 (GRCm39) probably benign Het
Rab44 G A 17: 29,364,344 (GRCm39) probably benign Het
Racgap1 T C 15: 99,526,508 (GRCm39) probably benign Het
Rapgef4 A G 2: 71,861,385 (GRCm39) E25G probably damaging Het
Rpl8 G C 15: 76,789,246 (GRCm39) probably benign Het
Samd12 G A 15: 53,583,116 (GRCm39) P73S possibly damaging Het
Samd9l T A 6: 3,374,502 (GRCm39) N920Y probably damaging Het
Sdk1 T C 5: 141,948,476 (GRCm39) V607A probably benign Het
Slc25a19 A G 11: 115,508,401 (GRCm39) Y196H probably damaging Het
Slc39a3 A T 10: 80,869,621 (GRCm39) M12K possibly damaging Het
Slc5a4a T C 10: 76,018,556 (GRCm39) I501T possibly damaging Het
Sp4 A T 12: 118,262,408 (GRCm39) V546D possibly damaging Het
Ssh3 C T 19: 4,313,727 (GRCm39) V511M possibly damaging Het
Stard9 T G 2: 120,526,788 (GRCm39) V1015G probably benign Het
Thoc5 G T 11: 4,871,978 (GRCm39) V516F possibly damaging Het
Ttc21a T A 9: 119,783,628 (GRCm39) I570N probably damaging Het
Ttc4 T C 4: 106,524,770 (GRCm39) probably null Het
Ugt1a1 AT A 1: 88,140,093 (GRCm39) probably null Het
Yipf3 A G 17: 46,562,411 (GRCm39) E298G possibly damaging Het
Zbtb34 C A 2: 33,301,060 (GRCm39) E494* probably null Het
Zfhx3 A G 8: 109,677,878 (GRCm39) Y2976C 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
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
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'- CGTAAGCTGAGAGTGGAGACACATC -3'
(R):5'- GGGCACATTTTAGCGGACAAGAAC -3'

Sequencing Primer
(F):5'- TTCTTGCCTAAGGAAGCCAG -3'
(R):5'- TTTTAGCGGACAAGAACTAAATGTGG -3'
Posted On 2013-04-24