Incidental Mutation 'IGL02481:Ralgps1'
ID295214
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralgps1
Ensembl Gene ENSMUSG00000038831
Gene NameRal GEF with PH domain and SH3 binding motif 1
SynonymsRALGPS1A, 5830418G11Rik, RALGEF2
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.162) question?
Stock #IGL02481
Quality Score
Status
Chromosome2
Chromosomal Location33133417-33371486 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 33340729 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 14 (T14I)
Ref Sequence ENSEMBL: ENSMUSP00000118363 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000042615] [ENSMUST00000091039] [ENSMUST00000113165] [ENSMUST00000131298]
Predicted Effect probably benign
Transcript: ENSMUST00000042615
AA Change: T14I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000048451
Gene: ENSMUSG00000038831
AA Change: T14I

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 benign
Transcript: ENSMUST00000091039
AA Change: T14I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000088563
Gene: ENSMUSG00000038831
AA Change: T14I

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 noncoding transcript
Transcript: ENSMUST00000113164
SMART Domains Protein: ENSMUSP00000108789
Gene: ENSMUSG00000038831

DomainStartEndE-ValueType
low complexity region 21 26 N/A INTRINSIC
RasGEF 46 242 1.49e-53 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000113165
AA Change: T14I

PolyPhen 2 Score 0.020 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000108790
Gene: ENSMUSG00000038831
AA Change: T14I

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
AA Change: T14I

PolyPhen 2 Score 0.035 (Sensitivity: 0.94; Specificity: 0.82)
SMART Domains Protein: ENSMUSP00000118363
Gene: ENSMUSG00000038831
AA Change: T14I

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
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Akr1b8 G A 6: 34,363,794 A209T probably damaging Het
Ccdc90b G A 7: 92,574,646 V117I probably benign Het
Cdkl2 A T 5: 92,037,271 I87N probably damaging Het
Cfap57 T A 4: 118,581,105 E863V probably damaging Het
Clca2 G A 3: 145,084,940 S457L possibly damaging Het
Crim1 C T 17: 78,350,798 T702I probably damaging Het
Cysltr1 C A X: 106,578,122 V253L probably damaging Het
Dgcr6 G A 16: 18,065,174 A6T possibly damaging Het
Dis3l T C 9: 64,319,080 probably null Het
Dnm3 A G 1: 162,010,902 S826P probably damaging Het
Dspp A G 5: 104,175,648 N219S possibly damaging Het
Dzip3 T C 16: 48,975,551 probably benign Het
Erc2 T A 14: 27,653,071 L82Q probably damaging Het
Ercc6l T C X: 102,144,669 T745A probably benign Het
Gata4 T C 14: 63,200,461 T414A probably benign Het
Gmps A G 3: 64,014,352 D592G probably damaging Het
Grin3a A G 4: 49,702,868 Y873H probably damaging Het
Gsr T C 8: 33,685,541 probably benign Het
Gtf2h1 T C 7: 46,804,993 L133P probably damaging Het
Ifna5 A C 4: 88,836,090 E189A probably benign Het
Irx5 A G 8: 92,360,679 Y413C probably damaging Het
Kcnk3 A G 5: 30,622,383 E259G probably damaging Het
Kcnt2 T C 1: 140,354,561 probably benign Het
Kif19a A G 11: 114,789,153 E772G probably benign Het
Klhdc7a T A 4: 139,965,810 T609S probably benign Het
Krt78 C A 15: 101,948,418 probably benign Het
Lca5 A T 9: 83,423,117 I212N probably damaging Het
Lgr6 T C 1: 135,001,691 probably benign Het
Madd T G 2: 91,178,036 T174P probably damaging Het
Mcm9 A G 10: 53,625,937 I184T probably damaging Het
Mlycd G A 8: 119,410,334 R431H probably damaging Het
Myh10 G A 11: 68,802,168 A1393T probably benign Het
Myof G T 19: 37,937,913 Y1144* probably null Het
Nbeal2 G A 9: 110,625,995 Q2578* probably null Het
Nlrp4f T A 13: 65,194,734 T366S probably benign Het
Nnat T C 2: 157,561,247 F36S possibly damaging Het
Nsd3 C A 8: 25,691,116 P915T probably damaging Het
Olfr117 A G 17: 37,659,472 L287P probably damaging Het
Olfr1335 C T 4: 118,809,499 V122M probably benign Het
Olfr351 A T 2: 36,859,818 C177S probably damaging Het
Olfr370 A C 8: 83,541,386 M81L possibly damaging Het
Olfr723 G A 14: 49,928,707 T279I probably damaging Het
Pkd1l3 A G 8: 109,614,782 N89S unknown Het
Pkd2 T C 5: 104,486,770 F556L probably damaging Het
Psen2 T A 1: 180,235,061 M239L probably damaging Het
Rad50 A G 11: 53,680,049 I794T probably benign Het
Rnpepl1 C T 1: 92,915,907 P250S probably damaging Het
Slc47a2 A G 11: 61,336,241 V167A possibly damaging Het
Tmem161b T A 13: 84,283,993 V41D probably damaging Het
Vmn2r88 A T 14: 51,414,154 E308D probably benign Het
Wdr61 T C 9: 54,728,261 I19V probably damaging Het
Zfhx4 G A 3: 5,411,843 E3148K probably damaging Het
Other mutations in Ralgps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00162:Ralgps1 APN 2 33137682 makesense probably null
IGL00780:Ralgps1 APN 2 33273627 missense probably damaging 1.00
IGL00951:Ralgps1 APN 2 33273602 missense probably damaging 1.00
IGL01358:Ralgps1 APN 2 33143049 missense possibly damaging 0.62
IGL02346:Ralgps1 APN 2 33157770 critical splice donor site probably null
IGL03281:Ralgps1 APN 2 33172416 critical splice donor site probably null
IGL03284:Ralgps1 APN 2 33146565 splice site probably benign
IGL03377:Ralgps1 APN 2 33172461 missense probably damaging 1.00
R0007:Ralgps1 UTSW 2 33143389 missense probably damaging 0.97
R0029:Ralgps1 UTSW 2 33141019 missense probably benign
R0309:Ralgps1 UTSW 2 33157923 missense probably benign
R0320:Ralgps1 UTSW 2 33141015 missense possibly damaging 0.59
R0622:Ralgps1 UTSW 2 33174447 nonsense probably null
R1277:Ralgps1 UTSW 2 33174425 missense possibly damaging 0.51
R1797:Ralgps1 UTSW 2 33340711 critical splice donor site probably null
R2921:Ralgps1 UTSW 2 33143070 missense probably damaging 0.99
R3123:Ralgps1 UTSW 2 33158956 missense possibly damaging 0.81
R3124:Ralgps1 UTSW 2 33158956 missense possibly damaging 0.81
R4741:Ralgps1 UTSW 2 33336587 missense probably benign 0.00
R4894:Ralgps1 UTSW 2 33143103 missense possibly damaging 0.71
R5148:Ralgps1 UTSW 2 33158987 missense probably damaging 1.00
R5255:Ralgps1 UTSW 2 33276159 missense probably damaging 1.00
R5877:Ralgps1 UTSW 2 33243628 unclassified probably benign
R6330:Ralgps1 UTSW 2 33174443 missense probably damaging 1.00
R6908:Ralgps1 UTSW 2 33143100 missense probably benign 0.17
R7252:Ralgps1 UTSW 2 33168188 missense probably benign 0.12
R7299:Ralgps1 UTSW 2 33157873 missense probably benign
R7366:Ralgps1 UTSW 2 33324688 missense possibly damaging 0.88
Posted On2015-04-16