Incidental Mutation 'IGL01606:Reps1'
ID93407
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reps1
Ensembl Gene ENSMUSG00000019854
Gene NameRalBP1 associated Eps domain containing protein
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.518) question?
Stock #IGL01606
Quality Score
Status
Chromosome10
Chromosomal Location18055861-18125155 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 18107687 bp
ZygosityHeterozygous
Amino Acid Change Glutamic Acid to Glycine at position 426 (E426G)
Ref Sequence ENSEMBL: ENSMUSP00000123238 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000126390] [ENSMUST00000154718] [ENSMUST00000155284] [ENSMUST00000164556]
PDB Structure SOLUTION STRUCTURE OF THE REPS1 EH DOMAIN [SOLUTION NMR]
Predicted Effect probably damaging
Transcript: ENSMUST00000126390
AA Change: E426G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: E426G

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 545 561 N/A INTRINSIC
low complexity region 574 599 N/A INTRINSIC
Blast:MYSc 613 671 1e-15 BLAST
coiled coil region 750 790 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128711
Predicted Effect probably benign
Transcript: ENSMUST00000150029
SMART Domains Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
Blast:EH 2 86 5e-51 BLAST
low complexity region 143 162 N/A INTRINSIC
low complexity region 192 203 N/A INTRINSIC
low complexity region 241 252 N/A INTRINSIC
EH 265 360 2.18e-34 SMART
low complexity region 377 393 N/A INTRINSIC
low complexity region 505 521 N/A INTRINSIC
low complexity region 534 559 N/A INTRINSIC
Blast:MYSc 573 631 1e-15 BLAST
coiled coil region 709 749 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000154718
SMART Domains Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 484 509 N/A INTRINSIC
Blast:MYSc 523 581 9e-16 BLAST
coiled coil region 660 700 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155284
SMART Domains Protein: ENSMUSP00000119629
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
Blast:EH 3 99 6e-65 BLAST
low complexity region 156 175 N/A INTRINSIC
Predicted Effect unknown
Transcript: ENSMUST00000155892
AA Change: E133G
SMART Domains Protein: ENSMUSP00000117431
Gene: ENSMUSG00000019854
AA Change: E133G

DomainStartEndE-ValueType
EH 2 82 9.44e-21 SMART
low complexity region 99 115 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000155959
SMART Domains Protein: ENSMUSP00000114387
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
low complexity region 1 17 N/A INTRINSIC
low complexity region 47 58 N/A INTRINSIC
low complexity region 75 86 N/A INTRINSIC
EH 99 194 2.18e-34 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000164556
SMART Domains Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854

DomainStartEndE-ValueType
EH 3 99 2.34e-2 SMART
low complexity region 156 175 N/A INTRINSIC
low complexity region 205 216 N/A INTRINSIC
low complexity region 254 265 N/A INTRINSIC
EH 278 373 2.18e-34 SMART
low complexity region 390 406 N/A INTRINSIC
low complexity region 518 534 N/A INTRINSIC
low complexity region 547 572 N/A INTRINSIC
Blast:MYSc 586 644 9e-16 BLAST
coiled coil region 723 763 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000216576
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 a signaling adaptor protein with two EH domains that interacts with proteins that participate in signaling, endocytosis and cytoskeletal changes. The encoded protein has been found in association with intersectin 1 and Src homology 3-domain growth factor receptor-bound 2-like (endophilin) interacting protein 1 when intersectin 1 was isolated from clathrin-coated pits. The encoded protein has also been shown to interact with amphiphysin, a cytoplasmic protein at the surface of synaptic vesicles. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Mar 2014]
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600012H06Rik A G 17: 14,943,863 D84G probably damaging Het
Adat3 A T 10: 80,607,338 I337F probably damaging Het
Carmil3 T A 14: 55,493,849 N128K possibly damaging Het
Ceacam2 T C 7: 25,530,707 E158G possibly damaging Het
Cel T C 2: 28,560,564 I150V probably benign Het
Chd5 A G 4: 152,360,975 H441R probably damaging Het
Clic5 G T 17: 44,248,746 R109L probably benign Het
Cpd T C 11: 76,812,640 M466V probably benign Het
Cyp39a1 T A 17: 43,746,618 probably benign Het
Dnah11 C A 12: 117,983,032 A3106S probably benign Het
Fasn A C 11: 120,809,023 probably null Het
Fat1 G A 8: 45,023,049 V1688I probably benign Het
Fibcd1 A G 2: 31,833,853 I258T probably benign Het
Frem2 C A 3: 53,653,591 R1165I possibly damaging Het
Gm5627 C T 9: 102,749,486 noncoding transcript Het
Gm5862 T A 5: 26,019,516 T152S probably benign Het
Gnb3 T A 6: 124,837,255 D154V probably damaging Het
Ighv1-14 T C 12: 114,646,837 noncoding transcript Het
Klrb1 C A 6: 128,723,005 E14D probably benign Het
Osbpl1a A T 18: 12,756,214 D556E possibly damaging Het
Pkd1 T C 17: 24,576,523 V2330A probably damaging Het
Pkdrej T C 15: 85,817,700 K1345R possibly damaging Het
Plxna4 A G 6: 32,158,001 F1756L probably damaging Het
Psg28 A C 7: 18,430,371 S139A probably benign Het
Ptpru A T 4: 131,808,481 I395N possibly damaging Het
Rtp4 T A 16: 23,613,254 S179T probably benign Het
Sh3pxd2a C A 19: 47,268,596 R561L probably benign Het
Slc29a2 T A 19: 5,027,439 L215Q possibly damaging Het
Slc44a4 T C 17: 34,929,018 F653L probably damaging Het
Sulf1 G T 1: 12,836,204 R490L possibly damaging Het
Ttll4 T C 1: 74,685,893 L602P probably damaging Het
Ttn A G 2: 76,776,790 V17963A probably damaging Het
Urb1 A G 16: 90,760,459 S1760P probably damaging Het
Zmynd11 G A 13: 9,697,688 R149W probably damaging Het
Other mutations in Reps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Reps1 APN 10 18124895 missense probably damaging 1.00
IGL01161:Reps1 APN 10 18093895 missense probably damaging 1.00
IGL01937:Reps1 APN 10 18093836 missense probably benign 0.04
IGL01945:Reps1 APN 10 18093836 missense probably benign 0.04
IGL02208:Reps1 APN 10 18119022 missense probably damaging 1.00
IGL02335:Reps1 APN 10 18056117 critical splice donor site probably null
IGL02706:Reps1 APN 10 18123015 splice site probably benign
IGL02747:Reps1 APN 10 18123600 missense probably damaging 1.00
R0554:Reps1 UTSW 10 18123119 missense possibly damaging 0.71
R0628:Reps1 UTSW 10 18121093 missense probably damaging 1.00
R1074:Reps1 UTSW 10 18094446 missense probably benign 0.01
R1710:Reps1 UTSW 10 18118950 missense possibly damaging 0.75
R1829:Reps1 UTSW 10 18107714 missense probably damaging 1.00
R2116:Reps1 UTSW 10 18124920 missense probably damaging 1.00
R2146:Reps1 UTSW 10 18093313 missense probably benign
R2161:Reps1 UTSW 10 18096283 missense probably damaging 0.99
R3704:Reps1 UTSW 10 18107680 missense probably damaging 1.00
R4115:Reps1 UTSW 10 18104207 missense possibly damaging 0.93
R4654:Reps1 UTSW 10 18114400 missense probably damaging 1.00
R4856:Reps1 UTSW 10 18123625 missense probably damaging 1.00
R4910:Reps1 UTSW 10 18107688 missense probably damaging 1.00
R5127:Reps1 UTSW 10 18093880 missense probably benign
R5521:Reps1 UTSW 10 18104234 missense probably damaging 1.00
R5707:Reps1 UTSW 10 18056010 missense probably benign 0.06
R5724:Reps1 UTSW 10 18114483 missense possibly damaging 0.75
R6564:Reps1 UTSW 10 18122392 splice site probably null
R6996:Reps1 UTSW 10 18093855 missense probably damaging 1.00
R7026:Reps1 UTSW 10 18107689 missense probably damaging 1.00
R7423:Reps1 UTSW 10 18093887 missense possibly damaging 0.81
R8507:Reps1 UTSW 10 18094470 missense probably damaging 0.97
R8703:Reps1 UTSW 10 18093242 missense probably damaging 1.00
X0062:Reps1 UTSW 10 18104226 missense probably damaging 0.99
Z1176:Reps1 UTSW 10 18123125 missense probably damaging 0.99
Z1177:Reps1 UTSW 10 18093779 missense probably benign 0.05
Z1177:Reps1 UTSW 10 18124924 missense probably damaging 1.00
Posted On2013-12-09