Incidental Mutation 'IGL01322:Ehbp1'
ID 74083
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ehbp1
Ensembl Gene ENSMUSG00000042302
Gene Name EH domain binding protein 1
Synonyms KIAA0903-like, Flj21950
Accession Numbers
Essential gene? Probably essential (E-score: 0.816) question?
Stock # IGL01322
Quality Score
Status
Chromosome 11
Chromosomal Location 22005828-22342292 bp(-) (GRCm38)
Type of Mutation missense
DNA Base Change (assembly) T to A at 22089636 bp (GRCm38)
Zygosity Heterozygous
Amino Acid Change Lysine to Asparagine at position 821 (K821N)
Ref Sequence ENSEMBL: ENSMUSP00000105191 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000045167] [ENSMUST00000109563] [ENSMUST00000180360]
AlphaFold Q69ZW3
Predicted Effect probably benign
Transcript: ENSMUST00000045167
AA Change: K796N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000037489
Gene: ENSMUSG00000042302
AA Change: K796N

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: K821N

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000105191
Gene: ENSMUSG00000042302
AA Change: K821N

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 benign
Transcript: ENSMUST00000180360
AA Change: K796N

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000136697
Gene: ENSMUSG00000042302
AA Change: K796N

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
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: 45 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T A 7: 120,439,199 (GRCm38) L368Q probably damaging Het
Abca2 T A 2: 25,446,782 (GRCm38) probably null Het
Ano7 T A 1: 93,395,508 (GRCm38) V497D probably benign Het
B4gat1 T C 19: 5,040,009 (GRCm38) Y345H probably damaging Het
Bckdha T A 7: 25,658,707 (GRCm38) R12W possibly damaging Het
Bcl7c T A 7: 127,707,436 (GRCm38) N93Y probably damaging Het
Cc2d2a C A 5: 43,689,003 (GRCm38) T368K probably benign Het
Chek1 G A 9: 36,718,421 (GRCm38) Q210* probably null Het
Chrdl2 A G 7: 100,017,041 (GRCm38) Y56C probably damaging Het
Cspg4 T A 9: 56,898,588 (GRCm38) F2228I probably damaging Het
Dnah7a T C 1: 53,434,046 (GRCm38) M3474V probably benign Het
Dph7 T C 2: 24,965,617 (GRCm38) S143P possibly damaging Het
Eomes T C 9: 118,484,830 (GRCm38) S648P probably benign Het
Fam20a A G 11: 109,682,912 (GRCm38) V215A probably damaging Het
Fer1l4 T A 2: 156,020,339 (GRCm38) probably null Het
Frem2 A G 3: 53,541,038 (GRCm38) V2319A probably benign Het
Gtf3c4 T C 2: 28,833,572 (GRCm38) D575G probably benign Het
Ifit1bl2 A G 19: 34,619,004 (GRCm38) V404A probably benign Het
Kcnf1 T C 12: 17,175,348 (GRCm38) M291V probably benign Het
Klra1 T A 6: 130,364,261 (GRCm38) I250F probably benign Het
Klra4 T A 6: 130,062,022 (GRCm38) T136S probably benign Het
Mcrs1 A T 15: 99,243,385 (GRCm38) I399N probably damaging Het
Neo1 T C 9: 58,907,085 (GRCm38) E866G possibly damaging Het
Notch3 T C 17: 32,144,471 (GRCm38) D1206G probably damaging Het
Or10ab4 A G 7: 108,054,981 (GRCm38) probably benign Het
Or14c43 T A 7: 86,466,272 (GRCm38) I287N probably damaging Het
Or4z4 A C 19: 12,099,405 (GRCm38) V78G probably benign Het
Or5ae1 T A 7: 84,916,382 (GRCm38) V201E probably damaging Het
Or5b95 A C 19: 12,680,749 (GRCm38) I214L probably benign Het
Or6c210 A G 10: 129,660,126 (GRCm38) T107A probably benign Het
Pnkd A G 1: 74,351,557 (GRCm38) N336D probably damaging Het
Prag1 T C 8: 36,103,934 (GRCm38) V557A probably benign Het
Ptgfr A C 3: 151,835,686 (GRCm38) S62A probably benign Het
Smc2 A G 4: 52,450,842 (GRCm38) Y220C probably damaging Het
Sufu G A 19: 46,450,943 (GRCm38) E246K probably damaging Het
Sult2a1 T A 7: 13,832,679 (GRCm38) R124* probably null Het
Sult4a1 T A 15: 84,086,616 (GRCm38) Y196F possibly damaging Het
Trim15 G A 17: 36,865,083 (GRCm38) R191W probably damaging Het
Ttn A G 2: 76,942,975 (GRCm38) V2361A possibly damaging Het
Usp16 T C 16: 87,466,276 (GRCm38) V122A possibly damaging Het
Vmn1r122 T A 7: 21,134,111 (GRCm38) K6N probably benign Het
Vmn1r34 G A 6: 66,636,915 (GRCm38) Q280* probably null Het
Vmn2r45 T A 7: 8,481,333 (GRCm38) H491L possibly damaging Het
Wdpcp T C 11: 21,711,949 (GRCm38) L407P probably damaging Het
Zfp157 T C 5: 138,447,578 (GRCm38) I65T probably benign Het
Other mutations in Ehbp1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00754:Ehbp1 APN 11 22,247,967 (GRCm38) splice site probably benign
IGL00786:Ehbp1 APN 11 22,100,460 (GRCm38) missense possibly damaging 0.79
IGL01308:Ehbp1 APN 11 22,138,022 (GRCm38) missense probably damaging 1.00
IGL01590:Ehbp1 APN 11 22,095,611 (GRCm38) missense possibly damaging 0.91
IGL01611:Ehbp1 APN 11 22,172,883 (GRCm38) missense probably damaging 0.98
IGL01636:Ehbp1 APN 11 22,089,584 (GRCm38) missense probably benign 0.03
IGL01728:Ehbp1 APN 11 22,101,115 (GRCm38) missense probably damaging 1.00
IGL02012:Ehbp1 APN 11 22,101,218 (GRCm38) missense probably damaging 1.00
IGL02034:Ehbp1 APN 11 22,285,486 (GRCm38) critical splice donor site probably null
IGL02324:Ehbp1 APN 11 22,096,048 (GRCm38) missense probably damaging 1.00
IGL02511:Ehbp1 APN 11 22,089,653 (GRCm38) missense probably damaging 1.00
trajan UTSW 11 22,151,850 (GRCm38) missense probably damaging 1.00
K7894:Ehbp1 UTSW 11 22,089,683 (GRCm38) splice site probably benign
PIT4418001:Ehbp1 UTSW 11 22,053,494 (GRCm38) missense probably damaging 1.00
R0218:Ehbp1 UTSW 11 22,231,992 (GRCm38) splice site probably benign
R0294:Ehbp1 UTSW 11 22,095,427 (GRCm38) missense probably benign 0.27
R0398:Ehbp1 UTSW 11 22,095,886 (GRCm38) missense probably damaging 0.99
R0420:Ehbp1 UTSW 11 22,151,836 (GRCm38) missense probably benign
R0468:Ehbp1 UTSW 11 22,169,184 (GRCm38) splice site probably benign
R0943:Ehbp1 UTSW 11 22,095,883 (GRCm38) missense probably benign 0.12
R1181:Ehbp1 UTSW 11 22,062,831 (GRCm38) missense probably benign 0.25
R1481:Ehbp1 UTSW 11 22,006,782 (GRCm38) makesense probably null
R1493:Ehbp1 UTSW 11 22,006,866 (GRCm38) missense probably damaging 1.00
R1563:Ehbp1 UTSW 11 22,059,231 (GRCm38) missense probably damaging 1.00
R1648:Ehbp1 UTSW 11 22,096,000 (GRCm38) missense probably damaging 1.00
R1656:Ehbp1 UTSW 11 22,146,694 (GRCm38) missense probably benign
R1696:Ehbp1 UTSW 11 22,053,441 (GRCm38) missense probably damaging 0.99
R1923:Ehbp1 UTSW 11 22,151,850 (GRCm38) missense probably damaging 1.00
R1950:Ehbp1 UTSW 11 22,059,228 (GRCm38) missense probably damaging 1.00
R2263:Ehbp1 UTSW 11 22,095,462 (GRCm38) missense probably benign
R2436:Ehbp1 UTSW 11 22,089,524 (GRCm38) critical splice donor site probably null
R3148:Ehbp1 UTSW 11 22,100,465 (GRCm38) missense probably damaging 1.00
R3973:Ehbp1 UTSW 11 22,137,867 (GRCm38) missense probably benign 0.00
R3974:Ehbp1 UTSW 11 22,137,867 (GRCm38) missense probably benign 0.00
R4030:Ehbp1 UTSW 11 22,285,498 (GRCm38) missense probably damaging 1.00
R4085:Ehbp1 UTSW 11 22,095,898 (GRCm38) missense possibly damaging 0.95
R4089:Ehbp1 UTSW 11 22,095,898 (GRCm38) missense possibly damaging 0.95
R4524:Ehbp1 UTSW 11 22,151,843 (GRCm38) missense probably damaging 1.00
R4641:Ehbp1 UTSW 11 22,095,892 (GRCm38) missense probably benign 0.00
R4873:Ehbp1 UTSW 11 22,101,164 (GRCm38) missense probably damaging 1.00
R4875:Ehbp1 UTSW 11 22,101,164 (GRCm38) missense probably damaging 1.00
R4914:Ehbp1 UTSW 11 22,146,592 (GRCm38) missense probably benign 0.20
R4915:Ehbp1 UTSW 11 22,146,592 (GRCm38) missense probably benign 0.20
R4916:Ehbp1 UTSW 11 22,146,592 (GRCm38) missense probably benign 0.20
R4917:Ehbp1 UTSW 11 22,146,592 (GRCm38) missense probably benign 0.20
R4918:Ehbp1 UTSW 11 22,146,592 (GRCm38) missense probably benign 0.20
R4929:Ehbp1 UTSW 11 22,239,169 (GRCm38) missense possibly damaging 0.48
R4995:Ehbp1 UTSW 11 22,101,073 (GRCm38) missense probably damaging 1.00
R5325:Ehbp1 UTSW 11 22,095,370 (GRCm38) missense possibly damaging 0.93
R5579:Ehbp1 UTSW 11 22,137,846 (GRCm38) missense probably damaging 1.00
R5979:Ehbp1 UTSW 11 22,151,887 (GRCm38) missense probably benign 0.06
R6025:Ehbp1 UTSW 11 22,239,156 (GRCm38) missense probably damaging 1.00
R6259:Ehbp1 UTSW 11 22,285,684 (GRCm38) start gained probably benign
R6685:Ehbp1 UTSW 11 22,146,641 (GRCm38) missense probably benign 0.01
R6893:Ehbp1 UTSW 11 22,014,945 (GRCm38) missense probably damaging 1.00
R7127:Ehbp1 UTSW 11 22,053,529 (GRCm38) nonsense probably null
R7465:Ehbp1 UTSW 11 22,138,001 (GRCm38) missense probably benign
R7722:Ehbp1 UTSW 11 22,089,572 (GRCm38) missense probably null
R7724:Ehbp1 UTSW 11 22,089,572 (GRCm38) missense probably null
R7797:Ehbp1 UTSW 11 22,096,109 (GRCm38) missense possibly damaging 0.79
R7868:Ehbp1 UTSW 11 22,146,542 (GRCm38) nonsense probably null
R8088:Ehbp1 UTSW 11 22,089,572 (GRCm38) missense probably null
R8218:Ehbp1 UTSW 11 22,096,096 (GRCm38) missense possibly damaging 0.77
R8235:Ehbp1 UTSW 11 22,239,153 (GRCm38) missense probably damaging 1.00
R8267:Ehbp1 UTSW 11 22,146,562 (GRCm38) missense probably benign 0.02
R8318:Ehbp1 UTSW 11 22,137,980 (GRCm38) missense probably benign 0.05
R8334:Ehbp1 UTSW 11 22,007,170 (GRCm38) missense probably damaging 1.00
R8425:Ehbp1 UTSW 11 22,013,495 (GRCm38) missense probably damaging 1.00
R8439:Ehbp1 UTSW 11 22,096,109 (GRCm38) missense possibly damaging 0.79
R8493:Ehbp1 UTSW 11 22,285,842 (GRCm38) start gained probably benign
R8745:Ehbp1 UTSW 11 22,169,064 (GRCm38) missense possibly damaging 0.78
R8824:Ehbp1 UTSW 11 22,232,053 (GRCm38) missense probably damaging 0.98
R8964:Ehbp1 UTSW 11 22,151,154 (GRCm38) nonsense probably null
R8987:Ehbp1 UTSW 11 22,053,531 (GRCm38) missense probably damaging 1.00
R9144:Ehbp1 UTSW 11 22,068,463 (GRCm38) missense probably damaging 1.00
R9187:Ehbp1 UTSW 11 22,151,184 (GRCm38) missense probably damaging 0.99
R9448:Ehbp1 UTSW 11 22,137,881 (GRCm38) missense probably benign
R9549:Ehbp1 UTSW 11 22,062,788 (GRCm38) missense probably benign 0.44
R9612:Ehbp1 UTSW 11 22,169,124 (GRCm38) missense probably damaging 0.99
R9645:Ehbp1 UTSW 11 22,101,052 (GRCm38) missense probably damaging 1.00
R9678:Ehbp1 UTSW 11 22,151,108 (GRCm38) missense possibly damaging 0.89
R9745:Ehbp1 UTSW 11 22,146,692 (GRCm38) missense probably benign 0.19
RF016:Ehbp1 UTSW 11 22,146,646 (GRCm38) missense probably benign
RF037:Ehbp1 UTSW 11 22,006,783 (GRCm38) small deletion probably benign
X0018:Ehbp1 UTSW 11 22,101,085 (GRCm38) missense probably damaging 1.00
Z1176:Ehbp1 UTSW 11 22,095,590 (GRCm38) missense probably benign 0.03
Posted On 2013-10-07