Incidental Mutation 'IGL01019:Reps1'
ID 53835
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Reps1
Ensembl Gene ENSMUSG00000019854
Gene Name RalBP1 associated Eps domain containing protein
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.480) question?
Stock # IGL01019
Quality Score
Status
Chromosome 10
Chromosomal Location 17931609-18000903 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 18000643 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Glycine at position 752 (R752G)
Ref Sequence ENSEMBL: ENSMUSP00000130501 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000095817] [ENSMUST00000126390] [ENSMUST00000154718] [ENSMUST00000164556] [ENSMUST00000207827] [ENSMUST00000208948] [ENSMUST00000209178] [ENSMUST00000155284]
AlphaFold O54916
Predicted Effect probably benign
Transcript: ENSMUST00000095817
SMART Domains Protein: ENSMUSP00000093497
Gene: ENSMUSG00000071392

DomainStartEndE-ValueType
FBOX 93 133 3.5e-4 SMART
Pfam:DUF4347 297 468 1.4e-11 PFAM
RhoGEF 578 761 6.3e-46 SMART
Blast:PH 793 909 6e-49 BLAST
Predicted Effect probably damaging
Transcript: ENSMUST00000126390
AA Change: R779G

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000123238
Gene: ENSMUSG00000019854
AA Change: R779G

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: ENSMUST00000144287
Predicted Effect unknown
Transcript: ENSMUST00000150029
AA Change: R738G
SMART Domains Protein: ENSMUSP00000119651
Gene: ENSMUSG00000019854
AA Change: R738G

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 noncoding transcript
Transcript: ENSMUST00000150533
Predicted Effect possibly damaging
Transcript: ENSMUST00000154718
AA Change: R689G

PolyPhen 2 Score 0.533 (Sensitivity: 0.88; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000119358
Gene: ENSMUSG00000019854
AA Change: R689G

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 damaging
Transcript: ENSMUST00000164556
AA Change: R752G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000130501
Gene: ENSMUSG00000019854
AA Change: R752G

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: ENSMUST00000207827
Predicted Effect probably benign
Transcript: ENSMUST00000208948
Predicted Effect probably benign
Transcript: ENSMUST00000209178
Predicted Effect noncoding transcript
Transcript: ENSMUST00000215232
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
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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9930022D16Rik T C 11: 109,308,737 (GRCm39) probably benign Het
Aatk T C 11: 119,903,101 (GRCm39) S375G probably benign Het
Abcg8 T C 17: 84,999,423 (GRCm39) M173T probably benign Het
B3galt2 A C 1: 143,522,495 (GRCm39) R210S probably benign Het
Bltp1 G T 3: 37,061,133 (GRCm39) probably null Het
Capn5 C T 7: 97,784,971 (GRCm39) A168T probably damaging Het
Cbx7 C T 15: 79,814,829 (GRCm39) G24D probably damaging Het
Ccdc7a A T 8: 129,788,099 (GRCm39) S77T probably benign Het
Cd200r2 T A 16: 44,729,832 (GRCm39) probably benign Het
Cdh11 T C 8: 103,406,377 (GRCm39) H32R probably benign Het
Chdh A T 14: 29,753,289 (GRCm39) N66I probably benign Het
Clca3a2 G A 3: 144,519,388 (GRCm39) Q263* probably null Het
Dcc T C 18: 71,942,161 (GRCm39) I319V probably benign Het
Depdc5 G T 5: 33,050,745 (GRCm39) M170I probably damaging Het
Dop1b T A 16: 93,607,117 (GRCm39) L2140Q probably benign Het
Frem3 G A 8: 81,341,763 (GRCm39) G1352E probably benign Het
Fsd1l T A 4: 53,694,742 (GRCm39) C389S probably damaging Het
Grin2c C T 11: 115,148,936 (GRCm39) A221T possibly damaging Het
Gstz1 C A 12: 87,210,575 (GRCm39) P153T probably damaging Het
Itgb2 T C 10: 77,378,237 (GRCm39) S22P possibly damaging Het
Krt87 G T 15: 101,336,312 (GRCm39) Q114K possibly damaging Het
Krtap5-4 A C 7: 141,857,647 (GRCm39) S106R unknown Het
Lats1 T C 10: 7,581,435 (GRCm39) V740A probably damaging Het
Mcm9 C A 10: 53,506,041 (GRCm39) G78C probably damaging Het
Mn1 G A 5: 111,569,413 (GRCm39) E1128K possibly damaging Het
Myo1f G A 17: 33,811,977 (GRCm39) R592H possibly damaging Het
Nfat5 G T 8: 108,094,146 (GRCm39) A277S probably damaging Het
Nfkbia T A 12: 55,537,327 (GRCm39) Y254F probably damaging Het
Nr3c2 A T 8: 77,635,843 (GRCm39) N315Y probably damaging Het
Otof T C 5: 30,562,560 (GRCm39) M258V probably benign Het
Panx3 C T 9: 37,572,767 (GRCm39) C261Y probably damaging Het
Pdia2 C A 17: 26,417,896 (GRCm39) G38W probably damaging Het
Psg19 G T 7: 18,527,971 (GRCm39) Y257* probably null Het
Ptpre A T 7: 135,280,054 (GRCm39) K586* probably null Het
Rpgrip1 T A 14: 52,368,633 (GRCm39) D277E possibly damaging Het
Rpl21-ps6 A G 17: 56,222,671 (GRCm39) noncoding transcript Het
Serpinf2 T A 11: 75,327,333 (GRCm39) E198V possibly damaging Het
Sh3tc1 A G 5: 35,860,719 (GRCm39) L1046P probably damaging Het
Snw1 T C 12: 87,497,711 (GRCm39) E426G probably benign Het
Sord T A 2: 122,094,564 (GRCm39) N317K probably benign Het
Taar3 A T 10: 23,826,330 (GRCm39) D292V probably damaging Het
Tdrd3 C A 14: 87,709,618 (GRCm39) T94K probably damaging Het
Ttn C A 2: 76,687,165 (GRCm39) E736* probably null Het
Usp32 A G 11: 84,930,091 (GRCm39) V562A probably damaging Het
Vmn1r169 T G 7: 23,276,611 (GRCm39) M1R probably null Het
Vmn2r3 C T 3: 64,167,304 (GRCm39) C609Y probably damaging Het
Vmn2r69 T C 7: 85,055,739 (GRCm39) T800A probably benign Het
Vmn2r72 G A 7: 85,387,542 (GRCm39) T674I probably benign Het
Zfp160 T A 17: 21,241,088 (GRCm39) M52K possibly damaging Het
Zfp607a T A 7: 27,578,042 (GRCm39) C371S probably damaging Het
Other mutations in Reps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01161:Reps1 APN 10 17,969,643 (GRCm39) missense probably damaging 1.00
IGL01606:Reps1 APN 10 17,983,435 (GRCm39) missense probably damaging 1.00
IGL01937:Reps1 APN 10 17,969,584 (GRCm39) missense probably benign 0.04
IGL01945:Reps1 APN 10 17,969,584 (GRCm39) missense probably benign 0.04
IGL02208:Reps1 APN 10 17,994,770 (GRCm39) missense probably damaging 1.00
IGL02335:Reps1 APN 10 17,931,865 (GRCm39) critical splice donor site probably null
IGL02706:Reps1 APN 10 17,998,763 (GRCm39) splice site probably benign
IGL02747:Reps1 APN 10 17,999,348 (GRCm39) missense probably damaging 1.00
R0554:Reps1 UTSW 10 17,998,867 (GRCm39) missense possibly damaging 0.71
R0628:Reps1 UTSW 10 17,996,841 (GRCm39) missense probably damaging 1.00
R1074:Reps1 UTSW 10 17,970,194 (GRCm39) missense probably benign 0.01
R1710:Reps1 UTSW 10 17,994,698 (GRCm39) missense possibly damaging 0.75
R1829:Reps1 UTSW 10 17,983,462 (GRCm39) missense probably damaging 1.00
R2116:Reps1 UTSW 10 18,000,668 (GRCm39) missense probably damaging 1.00
R2146:Reps1 UTSW 10 17,969,061 (GRCm39) missense probably benign
R2161:Reps1 UTSW 10 17,972,031 (GRCm39) missense probably damaging 0.99
R3704:Reps1 UTSW 10 17,983,428 (GRCm39) missense probably damaging 1.00
R4115:Reps1 UTSW 10 17,979,955 (GRCm39) missense possibly damaging 0.93
R4654:Reps1 UTSW 10 17,990,148 (GRCm39) missense probably damaging 1.00
R4856:Reps1 UTSW 10 17,999,373 (GRCm39) missense probably damaging 1.00
R4910:Reps1 UTSW 10 17,983,436 (GRCm39) missense probably damaging 1.00
R5127:Reps1 UTSW 10 17,969,628 (GRCm39) missense probably benign
R5521:Reps1 UTSW 10 17,979,982 (GRCm39) missense probably damaging 1.00
R5707:Reps1 UTSW 10 17,931,758 (GRCm39) missense probably benign 0.06
R5724:Reps1 UTSW 10 17,990,231 (GRCm39) missense possibly damaging 0.75
R6564:Reps1 UTSW 10 17,998,140 (GRCm39) splice site probably null
R6996:Reps1 UTSW 10 17,969,603 (GRCm39) missense probably damaging 1.00
R7026:Reps1 UTSW 10 17,983,437 (GRCm39) missense probably damaging 1.00
R7423:Reps1 UTSW 10 17,969,635 (GRCm39) missense possibly damaging 0.81
R8507:Reps1 UTSW 10 17,970,218 (GRCm39) missense probably damaging 0.97
R8703:Reps1 UTSW 10 17,968,990 (GRCm39) missense probably damaging 1.00
X0062:Reps1 UTSW 10 17,979,974 (GRCm39) missense probably damaging 0.99
Z1176:Reps1 UTSW 10 17,998,873 (GRCm39) missense probably damaging 0.99
Z1177:Reps1 UTSW 10 18,000,672 (GRCm39) missense probably damaging 1.00
Z1177:Reps1 UTSW 10 17,969,527 (GRCm39) missense probably benign 0.05
Posted On 2013-06-28