Incidental Mutation 'R7868:Ehbp1'
ID 607928
Institutional Source Beutler Lab
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms Flj21950, KIAA0903-like
MMRRC Submission 045920-MU
Accession Numbers
Essential gene? Probably essential (E-score: 0.829) question?
Stock # R7868 (G1)
Quality Score 225.009
Status Not validated
Chromosome 11
Chromosomal Location 21955825-22237086 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 22096542 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 341 (R341*)
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: R316*
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: R316*

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: R341*
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: R341*

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: R306*
SMART Domains Protein: ENSMUSP00000118583
Gene: ENSMUSG00000042302
AA Change: R306*

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: R316*
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: R316*

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: 62 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415A04Rik GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT GTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGTGT 11: 43,478,257 (GRCm39) probably null Het
Acacb A G 5: 114,386,288 (GRCm39) E2274G probably benign Het
Adam7 A G 14: 68,770,090 (GRCm39) I21T possibly damaging Het
Aldh3b3 C T 19: 4,018,492 (GRCm39) R57* probably null Het
Arhgap22 T C 14: 33,086,473 (GRCm39) probably benign Het
B4galt5 G T 2: 167,143,340 (GRCm39) Y361* probably null Het
BC005537 C T 13: 24,987,382 (GRCm39) R7W possibly damaging Het
Bsn G T 9: 107,992,098 (GRCm39) A1218D possibly damaging Het
Ccdc141 T C 2: 76,938,756 (GRCm39) D283G probably damaging Het
Ccdc33 T A 9: 57,976,374 (GRCm39) I547F probably benign Het
Chdh A G 14: 29,753,288 (GRCm39) N66D probably benign Het
Ckap2l T A 2: 129,127,209 (GRCm39) Q323L probably damaging Het
Cpvl T A 6: 53,951,745 (GRCm39) I13F possibly damaging Het
Creb3l2 G A 6: 37,312,804 (GRCm39) P410L probably damaging Het
Dna2 T C 10: 62,805,643 (GRCm39) V960A probably benign Het
Dop1a G A 9: 86,384,037 (GRCm39) probably null Het
Dpysl5 A T 5: 30,902,760 (GRCm39) D64V probably damaging Het
Dysf A G 6: 84,091,081 (GRCm39) Q1041R probably benign Het
Efcab7 T C 4: 99,746,154 (GRCm39) V242A probably benign Het
Eif1ad8 G T 12: 87,563,388 (GRCm39) probably benign Het
Fbxo32 A T 15: 58,077,986 (GRCm39) W8R probably damaging Het
Fpgs T C 2: 32,573,472 (GRCm39) N455D probably damaging Het
Fsip1 G A 2: 117,966,967 (GRCm39) Q453* probably null Het
Gm8257 T A 14: 44,894,754 (GRCm39) E12V probably damaging Het
Kdm3a A T 6: 71,572,473 (GRCm39) D1029E probably benign Het
Lipo4 T G 19: 33,488,968 (GRCm39) Q205P possibly damaging Het
Lpar6 A T 14: 73,476,435 (GRCm39) N132I probably damaging Het
Lrp1b C T 2: 41,339,246 (GRCm39) G866S Het
Man2c1 T C 9: 57,045,270 (GRCm39) F460L probably damaging Het
Map3k7cl T C 16: 87,378,100 (GRCm39) V72A probably damaging Het
Map4k1 A T 7: 28,699,387 (GRCm39) probably null Het
Matn1 A G 4: 130,682,311 (GRCm39) E496G probably damaging Het
Mfsd2a A T 4: 122,850,648 (GRCm39) V76E possibly damaging Het
Mmut C T 17: 41,257,934 (GRCm39) R367C probably damaging Het
Mtpap A G 18: 4,380,673 (GRCm39) E117G probably damaging Het
Muc17 T A 5: 137,175,625 (GRCm39) N15I Het
Ndufa10 A G 1: 92,388,169 (GRCm39) Y275H probably damaging Het
Nlrc4 A T 17: 74,755,047 (GRCm39) H56Q possibly damaging Het
Nrde2 G A 12: 100,097,446 (GRCm39) R785C possibly damaging Het
Nsun4 C A 4: 115,891,329 (GRCm39) C350F probably benign Het
Or10x1 A G 1: 174,196,551 (GRCm39) T23A probably benign Het
Or51f23b A G 7: 102,402,812 (GRCm39) L108P possibly damaging Het
Or8g2 T A 9: 39,821,282 (GRCm39) F61Y probably benign Het
Or9s14 G A 1: 92,536,237 (GRCm39) G226D possibly damaging Het
Pdcd7 T A 9: 65,254,261 (GRCm39) C280S probably damaging Het
Peak1 G T 9: 56,167,754 (GRCm39) T58K probably damaging Het
Phactr2 T C 10: 13,108,353 (GRCm39) E573G probably damaging Het
Pramel27 A G 4: 143,578,154 (GRCm39) H138R possibly damaging Het
Ptprz1 G A 6: 23,000,963 (GRCm39) A1018T not run Het
Ralgapa1 G T 12: 55,659,423 (GRCm39) D2032E probably benign Het
Rapgef4 T A 2: 72,031,481 (GRCm39) N488K probably benign Het
Slc1a2 A G 2: 102,591,530 (GRCm39) D420G probably benign Het
Smyd5 T A 6: 85,421,297 (GRCm39) L337Q probably damaging Het
Tenm4 G A 7: 96,555,587 (GRCm39) R2764H possibly damaging Het
Tex35 A T 1: 156,926,908 (GRCm39) Y195* probably null Het
Tln2 T C 9: 67,255,508 (GRCm39) K690E probably damaging Het
Trpc4 A G 3: 54,209,707 (GRCm39) T691A probably benign Het
Tsr1 T A 11: 74,791,158 (GRCm39) F246I possibly damaging Het
Ttn ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG ATATCTCTCCAGAGCCTCCCCTGGAGGAGTGGAGTATCTCTCCAGAGCCTCCCCTG 2: 76,746,150 (GRCm39) probably benign Het
Ubr4 A T 4: 139,187,344 (GRCm39) Y669F unknown Het
Uox A C 3: 146,316,029 (GRCm39) D12A probably benign Het
Wdr17 A G 8: 55,149,302 (GRCm39) 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
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'- AGCAGAGTGAGTTACAGCTAAC -3'
(R):5'- CCACAGAGTTCATTTATTCAAGACTGC -3'

Sequencing Primer
(F):5'- CAGAGTGAGTTACAGCTAACTTATAC -3'
(R):5'- TCATATGCTGTTAGTTTAACCTGTC -3'
Posted On 2019-12-20