Incidental Mutation 'IGL02749:Gpsm1'
ID306178
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpsm1
Ensembl Gene ENSMUSG00000026930
Gene NameG-protein signalling modulator 1 (AGS3-like, C. elegans)
SynonymsAgs3, 1810037C22Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02749
Quality Score
Status
Chromosome2
Chromosomal Location26315515-26348237 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 26339675 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Isoleucine at position 36 (T36I)
Ref Sequence ENSEMBL: ENSMUSP00000120934 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616] [ENSMUST00000114134] [ENSMUST00000127453]
Predicted Effect probably benign
Transcript: ENSMUST00000066889
AA Change: T445I

PolyPhen 2 Score 0.261 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: T445I

DomainStartEndE-ValueType
low complexity region 28 43 N/A INTRINSIC
TPR 98 131 1.45e-1 SMART
TPR 138 171 7.06e-5 SMART
TPR 238 271 5.96e-3 SMART
TPR 278 311 1.47e-2 SMART
TPR 318 351 5.19e-3 SMART
TPR 358 391 1.33e0 SMART
GoLoco 525 547 7.38e-9 SMART
low complexity region 548 560 N/A INTRINSIC
GoLoco 578 600 4.24e-9 SMART
GoLoco 626 648 5.22e-9 SMART
GoLoco 660 682 3.58e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000066936
AA Change: T413I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: T413I

DomainStartEndE-ValueType
TPR 66 99 1.45e-1 SMART
TPR 106 139 7.06e-5 SMART
TPR 206 239 5.96e-3 SMART
TPR 246 279 1.47e-2 SMART
TPR 286 319 5.19e-3 SMART
TPR 326 359 1.33e0 SMART
GoLoco 493 515 7.38e-9 SMART
low complexity region 516 528 N/A INTRINSIC
GoLoco 546 568 4.24e-9 SMART
GoLoco 594 616 5.22e-9 SMART
GoLoco 628 650 3.58e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000078616
AA Change: T413I

PolyPhen 2 Score 0.170 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: T413I

DomainStartEndE-ValueType
TPR 66 99 1.45e-1 SMART
TPR 106 139 7.06e-5 SMART
TPR 206 239 5.96e-3 SMART
TPR 246 279 1.47e-2 SMART
TPR 286 319 5.19e-3 SMART
TPR 326 359 1.33e0 SMART
GoLoco 433 455 7.38e-9 SMART
low complexity region 456 468 N/A INTRINSIC
GoLoco 486 508 4.24e-9 SMART
GoLoco 534 556 5.22e-9 SMART
GoLoco 568 590 3.58e-7 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000114134
AA Change: T36I

PolyPhen 2 Score 0.372 (Sensitivity: 0.90; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
AA Change: T36I

DomainStartEndE-ValueType
GoLoco 56 78 7.38e-9 SMART
low complexity region 79 91 N/A INTRINSIC
GoLoco 109 131 4.24e-9 SMART
GoLoco 157 179 5.22e-9 SMART
GoLoco 191 213 3.58e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123981
Predicted Effect probably damaging
Transcript: ENSMUST00000127453
AA Change: T36I

PolyPhen 2 Score 0.989 (Sensitivity: 0.72; Specificity: 0.97)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142057
Predicted Effect unknown
Transcript: ENSMUST00000145884
AA Change: T236I
SMART Domains Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: T236I

DomainStartEndE-ValueType
Blast:TPR 22 68 1e-9 BLAST
Pfam:TPR_1 82 107 2.3e-4 PFAM
Pfam:TPR_12 82 147 7.9e-12 PFAM
Pfam:TPR_7 84 119 1.4e-5 PFAM
Pfam:TPR_2 122 147 6.2e-4 PFAM
Pfam:TPR_8 123 146 1.4e-2 PFAM
Blast:TPR 150 183 4e-15 BLAST
GoLoco 317 339 7.38e-9 SMART
low complexity region 340 352 N/A INTRINSIC
GoLoco 370 392 4.24e-9 SMART
GoLoco 418 440 5.22e-9 SMART
GoLoco 452 474 3.58e-7 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000152895
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153064
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] G-protein signaling modulators (GPSMs) play diverse functional roles through their interaction with G-protein subunits. This gene encodes a receptor-independent activator of G protein signaling, which is one of several factors that influence the basal activity of G-protein signaling systems. The protein contains seven tetratricopeptide repeats in its N-terminal half and four G-protein regulatory (GPR) motifs in its C-terminal half. Multiple alternatively spliced transcript variants encoding different isoforms have been found for this gene. [provided by RefSeq, Dec 2011]
PHENOTYPE: Mice homozygous for a knock-out allele exhibit a lean phenotype, reduced fat mass, increased food consumption, increased nocturnal energy expenditure and altered blood pressure control mechanisms; surprisingly, their basal behavior and gross brain morphology remain normal. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
5830473C10Rik T C 5: 90,571,765 V240A possibly damaging Het
9230104M06Rik T C 12: 113,000,175 D61G probably benign Het
Ascc2 G A 11: 4,640,481 probably null Het
Atrn G T 2: 130,947,734 probably benign Het
Atrn C T 2: 130,970,144 Q670* probably null Het
Calr A C 8: 84,844,488 W236G probably damaging Het
Camk2g T A 14: 20,766,016 probably null Het
Cd101 G T 3: 101,020,399 T122K probably damaging Het
Col4a3bp T A 13: 96,629,135 N469K possibly damaging Het
Cryl1 T C 14: 57,303,724 T168A probably benign Het
Diaph3 A G 14: 86,918,825 I684T probably damaging Het
Ednrb A T 14: 103,823,059 M266K possibly damaging Het
Eif4h T C 5: 134,639,292 D3G probably damaging Het
Eny2 C T 15: 44,429,635 R28C possibly damaging Het
Epsti1 A G 14: 77,939,923 E181G probably damaging Het
Ezh2 A G 6: 47,533,764 F598S probably damaging Het
Fat3 G T 9: 16,006,711 T1472K possibly damaging Het
Gabra4 T A 5: 71,638,147 I262F probably benign Het
Gm15448 A G 7: 3,822,625 I415T probably damaging Het
Gpat4 A T 8: 23,180,870 Y109N probably damaging Het
Hikeshi C T 7: 89,935,889 V36I possibly damaging Het
Hip1 T C 5: 135,444,751 M238V probably benign Het
Hnrnpll A T 17: 80,061,991 M1K probably null Het
Irx2 G A 13: 72,631,310 D238N probably damaging Het
Kcnip4 T A 5: 48,409,785 probably benign Het
Lair1 G A 7: 4,028,901 T69I possibly damaging Het
Lamc1 A G 1: 153,249,853 I558T possibly damaging Het
Map4k5 C T 12: 69,815,806 E639K probably benign Het
Mc4r A G 18: 66,859,662 S127P probably damaging Het
Mmp23 A G 4: 155,651,532 M221T possibly damaging Het
Mre11a T C 9: 14,826,591 S587P possibly damaging Het
Myh9 A T 15: 77,807,986 Y124* probably null Het
Nek9 C A 12: 85,305,507 A861S probably benign Het
Nup155 T A 15: 8,134,076 Y576N probably damaging Het
Olfr1128 C T 2: 87,544,657 V296M probably damaging Het
Pcca A T 14: 122,534,388 T8S probably benign Het
Pcdh15 A G 10: 74,631,068 D1573G probably benign Het
Pdpr T A 8: 111,118,090 V373E probably benign Het
Pdzph1 A T 17: 58,932,483 L950Q possibly damaging Het
Prss35 A C 9: 86,756,244 K356Q probably damaging Het
Psg22 A T 7: 18,723,019 T237S possibly damaging Het
Rdh13 A G 7: 4,427,704 Y252H probably damaging Het
Sema3d T C 5: 12,563,145 probably benign Het
Slc35b2 G A 17: 45,566,567 V207I probably benign Het
Sparcl1 T G 5: 104,092,880 E226A possibly damaging Het
Srms C A 2: 181,209,509 A155S possibly damaging Het
Tas2r107 A T 6: 131,659,954 I44N probably damaging Het
Tmem236 C T 2: 14,219,321 T307M probably damaging Het
Ush2a C T 1: 188,946,958 P4788S probably damaging Het
Vmn1r170 A T 7: 23,606,291 L39F probably benign Het
Vmn2r90 T A 17: 17,726,860 *121R probably null Het
Other mutations in Gpsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01803:Gpsm1 APN 2 26346909 missense probably damaging 1.00
IGL01826:Gpsm1 APN 2 26326302 missense probably damaging 0.98
IGL02281:Gpsm1 APN 2 26339626 splice site probably benign
IGL02730:Gpsm1 APN 2 26325378 missense probably benign 0.13
IGL02740:Gpsm1 APN 2 26340573 missense probably benign 0.43
IGL02982:Gpsm1 APN 2 26324859 missense probably damaging 1.00
R1271:Gpsm1 UTSW 2 26344672 missense probably damaging 0.99
R1639:Gpsm1 UTSW 2 26345187 missense probably damaging 1.00
R1766:Gpsm1 UTSW 2 26325383 missense probably damaging 1.00
R1854:Gpsm1 UTSW 2 26344713 missense probably damaging 1.00
R2900:Gpsm1 UTSW 2 26345162 missense probably benign 0.00
R2994:Gpsm1 UTSW 2 26319831 unclassified probably benign
R2995:Gpsm1 UTSW 2 26319831 unclassified probably benign
R2996:Gpsm1 UTSW 2 26319831 unclassified probably benign
R4227:Gpsm1 UTSW 2 26339626 splice site probably benign
R4391:Gpsm1 UTSW 2 26323997 missense probably damaging 1.00
R4413:Gpsm1 UTSW 2 26319831 unclassified probably benign
R4461:Gpsm1 UTSW 2 26319831 unclassified probably benign
R4469:Gpsm1 UTSW 2 26319831 unclassified probably benign
R4659:Gpsm1 UTSW 2 26319831 unclassified probably benign
R4786:Gpsm1 UTSW 2 26322481 missense probably benign 0.01
R5025:Gpsm1 UTSW 2 26319996 missense possibly damaging 0.90
R5057:Gpsm1 UTSW 2 26325357 missense probably damaging 0.96
R5171:Gpsm1 UTSW 2 26327464 intron probably benign
R5356:Gpsm1 UTSW 2 26340562 missense possibly damaging 0.73
R5417:Gpsm1 UTSW 2 26324033 critical splice donor site probably null
R5967:Gpsm1 UTSW 2 26340534 splice site probably null
R6153:Gpsm1 UTSW 2 26325413 missense probably benign 0.14
R6969:Gpsm1 UTSW 2 26340543 missense probably benign 0.01
R7006:Gpsm1 UTSW 2 26322560 missense probably damaging 1.00
R7819:Gpsm1 UTSW 2 26339693 missense probably damaging 0.98
R7867:Gpsm1 UTSW 2 26340436 missense probably benign 0.38
R8194:Gpsm1 UTSW 2 26327352 frame shift probably null
R8195:Gpsm1 UTSW 2 26324917 splice site probably null
RF017:Gpsm1 UTSW 2 26324872 missense probably damaging 1.00
Z1176:Gpsm1 UTSW 2 26327345 missense possibly damaging 0.69
Posted On2015-04-16