Incidental Mutation 'IGL03135:Ralgds'
ID410472
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Ralgds
Ensembl Gene ENSMUSG00000026821
Gene Nameral guanine nucleotide dissociation stimulator
SynonymsRalGDS, Gnds, Rgds
Accession Numbers

Ncbi RefSeq: NM_001145835.1, NM_001145836.1, NM_009058.2, NM_001145834.1; MGI:107485

Is this an essential gene? Possibly non essential (E-score: 0.279) question?
Stock #IGL03135
Quality Score
Status
Chromosome2
Chromosomal Location28513125-28553081 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to A at 28549088 bp
ZygosityHeterozygous
Amino Acid Change Serine to Threonine at position 696 (S696T)
Ref Sequence ENSEMBL: ENSMUSP00000109526 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028170] [ENSMUST00000100241] [ENSMUST00000113893] [ENSMUST00000140704]
Predicted Effect probably damaging
Transcript: ENSMUST00000028170
AA Change: S653T

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000028170
Gene: ENSMUSG00000026821
AA Change: S653T

DomainStartEndE-ValueType
RasGEFN 56 194 4.02e-37 SMART
low complexity region 239 285 N/A INTRINSIC
RasGEF 320 587 5.28e-118 SMART
low complexity region 613 626 N/A INTRINSIC
low complexity region 646 655 N/A INTRINSIC
low complexity region 683 712 N/A INTRINSIC
low complexity region 716 726 N/A INTRINSIC
RA 736 823 6.51e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000100241
AA Change: S708T

PolyPhen 2 Score 0.984 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000097812
Gene: ENSMUSG00000026821
AA Change: S708T

DomainStartEndE-ValueType
RasGEFN 111 249 4.02e-37 SMART
low complexity region 294 340 N/A INTRINSIC
RasGEF 375 642 5.28e-118 SMART
low complexity region 668 681 N/A INTRINSIC
low complexity region 701 710 N/A INTRINSIC
low complexity region 738 767 N/A INTRINSIC
low complexity region 771 781 N/A INTRINSIC
RA 791 878 6.51e-22 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000113893
AA Change: S696T

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000109526
Gene: ENSMUSG00000026821
AA Change: S696T

DomainStartEndE-ValueType
RasGEFN 111 237 1.25e-42 SMART
low complexity region 282 328 N/A INTRINSIC
RasGEF 363 630 5.28e-118 SMART
low complexity region 656 669 N/A INTRINSIC
low complexity region 689 698 N/A INTRINSIC
low complexity region 726 755 N/A INTRINSIC
low complexity region 759 769 N/A INTRINSIC
RA 779 866 6.51e-22 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000128680
Predicted Effect noncoding transcript
Transcript: ENSMUST00000130281
Predicted Effect probably benign
Transcript: ENSMUST00000137215
SMART Domains Protein: ENSMUSP00000116215
Gene: ENSMUSG00000026821

DomainStartEndE-ValueType
RasGEFN 1 107 5.55e-8 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000137513
Predicted Effect possibly damaging
Transcript: ENSMUST00000140704
AA Change: S11T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000118966
Gene: ENSMUSG00000026821
AA Change: S11T

DomainStartEndE-ValueType
low complexity region 4 13 N/A INTRINSIC
RA 36 123 6.51e-22 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype Strain: 3574574
FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Guanine nucleotide dissociation stimulators (GDSs, or exchange factors), such as RALGDS, are effectors of Ras-related GTPases (see MIM 190020) that participate in signaling for a variety of cellular processes.[supplied by OMIM, Nov 2010]
PHENOTYPE: Homozygous mutant mice exhibit reduced tumor incidence, size and progression to malignancy in multistage skin carcinogenesis. [provided by MGI curators]
Allele List at MGI

All alleles(16) : Targeted(5) Gene trapped(11)

Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,587,115 M196R possibly damaging Het
Arhgap27 T A 11: 103,339,065 probably null Het
Arl8b A C 6: 108,818,545 N148T probably benign Het
Baz1a A G 12: 54,929,590 F434L probably damaging Het
Birc3 A G 9: 7,849,721 probably benign Het
Brwd1 C A 16: 96,021,258 R1249I probably damaging Het
Cab39l T C 14: 59,519,651 F161L probably benign Het
Ccr8 A T 9: 120,094,623 D268V possibly damaging Het
Col25a1 A T 3: 130,529,683 probably benign Het
Cpn1 A G 19: 43,986,254 L12P possibly damaging Het
Dnah6 A G 6: 73,145,004 I1360T probably benign Het
Dnajb8 A G 6: 88,223,031 E183G probably damaging Het
Dpp8 T A 9: 65,053,040 probably null Het
Fsd1 C A 17: 55,990,416 probably null Het
Grina T A 15: 76,247,962 F28I possibly damaging Het
H2-M3 G A 17: 37,272,433 D262N possibly damaging Het
Hdgfl3 G A 7: 81,893,839 T188M probably damaging Het
Kif18b A G 11: 102,914,260 I353T probably damaging Het
Lrrc41 C A 4: 116,088,531 R148S probably benign Het
Lrrc8e T A 8: 4,235,776 L667Q probably damaging Het
Lrrk1 A G 7: 66,262,890 F1641L probably benign Het
Naaladl1 A T 19: 6,112,356 T443S probably benign Het
Naga C A 15: 82,330,741 V339F probably damaging Het
Nedd4l A G 18: 65,205,670 K702E probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Parp14 A G 16: 35,858,011 M529T probably damaging Het
Parp8 A G 13: 116,910,942 V198A probably benign Het
Pcdhb19 A T 18: 37,498,535 H461L probably benign Het
Ppp6r1 T C 7: 4,642,160 D236G possibly damaging Het
Psg21 T C 7: 18,654,918 D83G probably benign Het
Ptpru A G 4: 131,818,800 C308R probably damaging Het
Rttn T A 18: 89,015,150 L695Q probably damaging Het
Scel A T 14: 103,586,514 I393F probably benign Het
Serpina3j T A 12: 104,314,907 I113N probably damaging Het
Slc4a3 C A 1: 75,547,935 probably benign Het
Slc6a11 A T 6: 114,194,609 probably null Het
Slc8a3 C T 12: 81,202,249 V802M probably damaging Het
Smarcal1 T A 1: 72,616,501 probably null Het
Tmprss11c A G 5: 86,237,650 V308A probably damaging Het
Trim10 A G 17: 36,874,221 R279G possibly damaging Het
Trim30a A G 7: 104,411,141 V476A probably damaging Het
Trio T C 15: 27,832,011 probably benign Het
Urgcp G A 11: 5,716,091 T749I possibly damaging Het
Vmn2r60 A G 7: 42,136,594 I274V probably benign Het
Vps11 A G 9: 44,356,356 F40L probably benign Het
Ywhab A G 2: 164,015,275 I157V probably benign Het
Zfp638 G A 6: 83,942,875 R485H probably damaging Het
Zfp944 A G 17: 22,339,756 I170T probably benign Het
Other mutations in Ralgds
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00426:Ralgds APN 2 28552218 missense probably damaging 1.00
IGL01774:Ralgds APN 2 28550542 nonsense probably null
IGL02747:Ralgds APN 2 28548110 unclassified probably benign
PIT4458001:Ralgds UTSW 2 28542474 missense probably damaging 1.00
PIT4531001:Ralgds UTSW 2 28545214 nonsense probably null
R0049:Ralgds UTSW 2 28542379 synonymous silent
R0052:Ralgds UTSW 2 28544388 critical splice donor site probably null
R0052:Ralgds UTSW 2 28544388 critical splice donor site probably null
R0285:Ralgds UTSW 2 28550569 splice site probably null
R0665:Ralgds UTSW 2 28545206 missense probably damaging 0.98
R0718:Ralgds UTSW 2 28549116 missense probably benign 0.37
R1755:Ralgds UTSW 2 28550546 missense probably damaging 0.99
R1966:Ralgds UTSW 2 28545875 missense probably damaging 0.96
R2873:Ralgds UTSW 2 28548769 splice site probably null
R2874:Ralgds UTSW 2 28548769 splice site probably null
R4082:Ralgds UTSW 2 28552271 utr 3 prime probably benign
R4342:Ralgds UTSW 2 28552095 missense probably damaging 1.00
R4344:Ralgds UTSW 2 28552095 missense probably damaging 1.00
R4647:Ralgds UTSW 2 28545520 critical splice donor site probably null
R4738:Ralgds UTSW 2 28545416 missense probably damaging 1.00
R4762:Ralgds UTSW 2 28552152 missense probably damaging 0.97
R5027:Ralgds UTSW 2 28552090 critical splice acceptor site probably null
R5320:Ralgds UTSW 2 28545212 missense probably damaging 1.00
R5738:Ralgds UTSW 2 28542526 intron probably benign
R5969:Ralgds UTSW 2 28542414 missense probably damaging 1.00
R6014:Ralgds UTSW 2 28543661 missense probably damaging 0.97
R6136:Ralgds UTSW 2 28550565 critical splice donor site probably null
R6137:Ralgds UTSW 2 28547588 missense probably damaging 0.99
R6583:Ralgds UTSW 2 28533644 missense probably damaging 0.99
R6618:Ralgds UTSW 2 28550511 missense probably benign 0.09
R6801:Ralgds UTSW 2 28548436 missense probably damaging 1.00
R7046:Ralgds UTSW 2 28540729 missense probably damaging 1.00
R7095:Ralgds UTSW 2 28549308 missense possibly damaging 0.83
R7276:Ralgds UTSW 2 28545872 missense probably damaging 1.00
R7399:Ralgds UTSW 2 28543655 missense possibly damaging 0.95
R7446:Ralgds UTSW 2 28545889 missense probably damaging 0.99
R7560:Ralgds UTSW 2 28547595 missense probably damaging 1.00
X0028:Ralgds UTSW 2 28548699 missense probably damaging 1.00
Posted On2016-08-02