Incidental Mutation 'IGL02346:Ralgps1'
ID 289303
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralgps1
Ensembl Gene ENSMUSG00000038831
Gene Name Ral GEF with PH domain and SH3 binding motif 1
Synonyms RALGPS1A, RALGEF2, 5830418G11Rik
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.348) question?
Stock # IGL02346
Quality Score
Status
Chromosome 2
Chromosomal Location 33023429-33261498 bp(-) (GRCm39)
Type of Mutation critical splice donor site (2 bp from exon)
DNA Base Change (assembly) A to T at 33047782 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000108790 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298]
AlphaFold A2AR50
Predicted Effect probably benign
Transcript: ENSMUST00000042615
SMART Domains Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 273 4.59e-86 SMART
low complexity region 286 301 N/A INTRINSIC
PH 372 485 1.87e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000091039
SMART Domains Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 460 573 1.87e-13 SMART
Predicted Effect probably null
Transcript: ENSMUST00000113165
SMART Domains Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
low complexity region 397 411 N/A INTRINSIC
PH 459 572 1.87e-13 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000131298
SMART Domains Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 290 7.54e-105 SMART
low complexity region 303 318 N/A INTRINSIC
PH 390 503 1.87e-13 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000138704
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acacb A T 5: 114,376,760 (GRCm39) I1948F probably damaging Het
Adgre1 T C 17: 57,750,919 (GRCm39) V531A probably benign Het
Ano3 A T 2: 110,601,271 (GRCm39) probably benign Het
Api5 A T 2: 94,257,875 (GRCm39) F125I possibly damaging Het
Arhgap21 A G 2: 20,884,762 (GRCm39) probably benign Het
Atp13a5 T A 16: 29,146,554 (GRCm39) K247* probably null Het
Col9a1 C T 1: 24,262,690 (GRCm39) A585V probably damaging Het
Eef1akmt3 A G 10: 126,868,805 (GRCm39) V223A probably benign Het
Eml1 T C 12: 108,503,700 (GRCm39) S766P possibly damaging Het
Fam13b G T 18: 34,595,158 (GRCm39) A402E probably benign Het
Gad2 A G 2: 22,519,951 (GRCm39) probably benign Het
Gbf1 A G 19: 46,274,369 (GRCm39) E1859G probably damaging Het
Gli3 T G 13: 15,898,278 (GRCm39) V786G probably damaging Het
Gm5592 A G 7: 40,938,889 (GRCm39) S724G probably damaging Het
Hgs A G 11: 120,373,377 (GRCm39) Y634C probably damaging Het
Hoxa3 T A 6: 52,147,579 (GRCm39) probably benign Het
Id4 C A 13: 48,415,189 (GRCm39) Y72* probably null Het
Il5ra T A 6: 106,719,619 (GRCm39) E71D probably benign Het
Kcnh4 G A 11: 100,647,768 (GRCm39) T168M possibly damaging Het
Kdm3b A T 18: 34,967,291 (GRCm39) I1699L probably damaging Het
Madd A G 2: 90,992,836 (GRCm39) Y1048H probably damaging Het
Mix23 T C 16: 35,912,205 (GRCm39) V87A probably damaging Het
Nr2f1 C A 13: 78,343,527 (GRCm39) V246L probably damaging Het
Oas2 A T 5: 120,874,153 (GRCm39) I560N probably benign Het
Or1j17 A T 2: 36,578,016 (GRCm39) M1L probably benign Het
Or1m1 T C 9: 18,666,065 (GRCm39) I289V probably damaging Het
Or8g19 T C 9: 39,055,939 (GRCm39) L181P probably damaging Het
Pclo A G 5: 14,727,552 (GRCm39) probably benign Het
Pdss2 T C 10: 43,221,639 (GRCm39) F184L possibly damaging Het
Prpf39 C T 12: 65,104,510 (GRCm39) T525I probably benign Het
Rasal3 A G 17: 32,618,323 (GRCm39) W161R probably damaging Het
Sema5b T A 16: 35,470,125 (GRCm39) V329D probably damaging Het
Serpinb9g A T 13: 33,670,514 (GRCm39) M1L probably benign Het
Sptb C T 12: 76,667,788 (GRCm39) D770N probably damaging Het
Tdp2 T C 13: 25,025,335 (GRCm39) V368A possibly damaging Het
Uggt1 A G 1: 36,218,751 (GRCm39) S59P probably benign Het
Vmn2r130 T C 17: 23,280,501 (GRCm39) V54A possibly damaging Het
Vmn2r9 T A 5: 108,990,850 (GRCm39) N837I probably benign Het
Wdr7 A T 18: 63,998,407 (GRCm39) E1118V probably benign Het
Wwox A G 8: 115,438,858 (GRCm39) H308R probably benign Het
Zbtb41 C A 1: 139,374,838 (GRCm39) P766Q probably damaging Het
Other mutations in Ralgps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ralgps1 APN 2 33,027,694 (GRCm39) makesense probably null
IGL00780:Ralgps1 APN 2 33,163,639 (GRCm39) missense probably damaging 1.00
IGL00951:Ralgps1 APN 2 33,163,614 (GRCm39) missense probably damaging 1.00
IGL01358:Ralgps1 APN 2 33,033,061 (GRCm39) missense possibly damaging 0.62
IGL02481:Ralgps1 APN 2 33,230,741 (GRCm39) missense probably benign 0.04
IGL03281:Ralgps1 APN 2 33,062,428 (GRCm39) critical splice donor site probably null
IGL03284:Ralgps1 APN 2 33,036,577 (GRCm39) splice site probably benign
IGL03377:Ralgps1 APN 2 33,062,473 (GRCm39) missense probably damaging 1.00
R0007:Ralgps1 UTSW 2 33,033,401 (GRCm39) missense probably damaging 0.97
R0029:Ralgps1 UTSW 2 33,031,031 (GRCm39) missense probably benign
R0309:Ralgps1 UTSW 2 33,047,935 (GRCm39) missense probably benign
R0320:Ralgps1 UTSW 2 33,031,027 (GRCm39) missense possibly damaging 0.59
R0622:Ralgps1 UTSW 2 33,064,459 (GRCm39) nonsense probably null
R1277:Ralgps1 UTSW 2 33,064,437 (GRCm39) missense possibly damaging 0.51
R1797:Ralgps1 UTSW 2 33,230,723 (GRCm39) critical splice donor site probably null
R2921:Ralgps1 UTSW 2 33,033,082 (GRCm39) missense probably damaging 0.99
R3123:Ralgps1 UTSW 2 33,048,968 (GRCm39) missense possibly damaging 0.81
R3124:Ralgps1 UTSW 2 33,048,968 (GRCm39) missense possibly damaging 0.81
R4741:Ralgps1 UTSW 2 33,226,599 (GRCm39) missense probably benign 0.00
R4894:Ralgps1 UTSW 2 33,033,115 (GRCm39) missense possibly damaging 0.71
R5148:Ralgps1 UTSW 2 33,048,999 (GRCm39) missense probably damaging 1.00
R5255:Ralgps1 UTSW 2 33,166,171 (GRCm39) missense probably damaging 1.00
R5877:Ralgps1 UTSW 2 33,133,640 (GRCm39) unclassified probably benign
R6330:Ralgps1 UTSW 2 33,064,455 (GRCm39) missense probably damaging 1.00
R6908:Ralgps1 UTSW 2 33,033,112 (GRCm39) missense probably benign 0.17
R7252:Ralgps1 UTSW 2 33,058,200 (GRCm39) missense probably benign 0.12
R7299:Ralgps1 UTSW 2 33,047,885 (GRCm39) missense probably benign
R7366:Ralgps1 UTSW 2 33,214,700 (GRCm39) missense possibly damaging 0.88
R7973:Ralgps1 UTSW 2 33,036,651 (GRCm39) missense probably damaging 1.00
R8422:Ralgps1 UTSW 2 33,062,442 (GRCm39) missense possibly damaging 0.81
R8513:Ralgps1 UTSW 2 33,226,626 (GRCm39) missense probably damaging 1.00
R8710:Ralgps1 UTSW 2 33,035,433 (GRCm39) missense probably damaging 0.98
R8733:Ralgps1 UTSW 2 33,174,836 (GRCm39) critical splice donor site probably null
R8841:Ralgps1 UTSW 2 33,045,329 (GRCm39) missense probably benign
R9261:Ralgps1 UTSW 2 33,226,571 (GRCm39) missense probably damaging 1.00
R9728:Ralgps1 UTSW 2 33,163,626 (GRCm39) missense probably damaging 0.99
Posted On 2015-04-16