Incidental Mutation 'IGL01803:Gpsm1'
ID 155589
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gpsm1
Ensembl Gene ENSMUSG00000026930
Gene Name G-protein signalling modulator 1 (AGS3-like, C. elegans)
Synonyms Ags3, 1810037C22Rik
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL01803
Quality Score
Status
Chromosome 2
Chromosomal Location 26205527-26238249 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) G to A at 26236921 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Threonine at position 580 (A580T)
Ref Sequence ENSEMBL: ENSMUSP00000077686 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028295] [ENSMUST00000066889] [ENSMUST00000066936] [ENSMUST00000078616] [ENSMUST00000114134]
AlphaFold Q6IR34
Predicted Effect probably benign
Transcript: ENSMUST00000028295
SMART Domains Protein: ENSMUSP00000028295
Gene: ENSMUSG00000075467

DomainStartEndE-ValueType
low complexity region 38 67 N/A INTRINSIC
Pfam:zf-DNL 74 139 4.1e-34 PFAM
low complexity region 158 172 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000066889
AA Change: A672T

PolyPhen 2 Score 0.005 (Sensitivity: 0.97; Specificity: 0.74)
SMART Domains Protein: ENSMUSP00000067964
Gene: ENSMUSG00000026930
AA Change: A672T

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 damaging
Transcript: ENSMUST00000066936
AA Change: A640T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000065000
Gene: ENSMUSG00000026930
AA Change: A640T

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 damaging
Transcript: ENSMUST00000078616
AA Change: A580T

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000077686
Gene: ENSMUSG00000026930
AA Change: A580T

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 damaging
Transcript: ENSMUST00000114134
AA Change: A203T

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000109769
Gene: ENSMUSG00000026930
AA Change: A203T

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 noncoding transcript
Transcript: ENSMUST00000142057
Predicted Effect unknown
Transcript: ENSMUST00000145884
AA Change: A463T
SMART Domains Protein: ENSMUSP00000115680
Gene: ENSMUSG00000026930
AA Change: A463T

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: ENSMUST00000132276
Predicted Effect noncoding transcript
Transcript: ENSMUST00000147873
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125848
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: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts19 T A 18: 59,085,541 (GRCm39) L532Q probably damaging Het
Bod1l A T 5: 41,974,732 (GRCm39) V2194D probably damaging Het
Cenpf G A 1: 189,386,968 (GRCm39) Q1771* probably null Het
Cfap100 C A 6: 90,392,717 (GRCm39) R131L probably benign Het
Coch A T 12: 51,650,082 (GRCm39) Q357L probably benign Het
Col14a1 A G 15: 55,282,210 (GRCm39) T824A unknown Het
Dnah9 T C 11: 66,009,655 (GRCm39) Y744C probably damaging Het
Dusp13b A G 14: 21,783,907 (GRCm39) V201A probably damaging Het
Egf T A 3: 129,530,415 (GRCm39) H249L probably benign Het
Elmod1 G A 9: 53,838,764 (GRCm39) P132L probably benign Het
Eps8l2 T C 7: 140,938,143 (GRCm39) V459A probably benign Het
Fbn1 T C 2: 125,192,207 (GRCm39) D1434G probably damaging Het
Fbn1 G A 2: 125,143,645 (GRCm39) T2828I probably benign Het
Gbp9 C T 5: 105,242,039 (GRCm39) D173N probably damaging Het
Gbp9 T C 5: 105,232,884 (GRCm39) D256G probably damaging Het
Hnrnpf T C 6: 117,884,094 (GRCm39) probably benign Het
Krt33a T C 11: 99,902,843 (GRCm39) E327G probably benign Het
M1ap T A 6: 82,982,565 (GRCm39) I283K probably benign Het
Mars2 A G 1: 55,277,155 (GRCm39) S253G probably damaging Het
Myh6 A T 14: 55,182,000 (GRCm39) M1767K probably damaging Het
Myo3a T A 2: 22,245,926 (GRCm39) D16E probably damaging Het
Pitrm1 T A 13: 6,629,471 (GRCm39) Y978N probably benign Het
Plekha6 G T 1: 133,200,152 (GRCm39) E66* probably null Het
Polk C T 13: 96,641,030 (GRCm39) V176M probably damaging Het
Pom121 G T 5: 135,410,463 (GRCm39) probably benign Het
Rnf213 T A 11: 119,332,133 (GRCm39) D2447E probably damaging Het
Sall3 T C 18: 81,013,047 (GRCm39) M1130V possibly damaging Het
Scn3a A G 2: 65,352,127 (GRCm39) probably benign Het
Sel1l A T 12: 91,797,504 (GRCm39) M241K probably benign Het
Septin4 G A 11: 87,459,075 (GRCm39) S483N probably benign Het
Ssh2 T G 11: 77,316,156 (GRCm39) L259R probably damaging Het
Tnr G T 1: 159,695,813 (GRCm39) G579W probably damaging Het
Vmn1r85 G T 7: 12,818,496 (GRCm39) A216D probably damaging Het
Vmn2r83 C A 10: 79,304,894 (GRCm39) H35N probably benign Het
Zar1l T A 5: 150,441,569 (GRCm39) Y19F probably benign Het
Other mutations in Gpsm1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01826:Gpsm1 APN 2 26,216,314 (GRCm39) missense probably damaging 0.98
IGL02281:Gpsm1 APN 2 26,229,638 (GRCm39) splice site probably benign
IGL02730:Gpsm1 APN 2 26,215,390 (GRCm39) missense probably benign 0.13
IGL02740:Gpsm1 APN 2 26,230,585 (GRCm39) missense probably benign 0.43
IGL02749:Gpsm1 APN 2 26,229,687 (GRCm39) missense probably damaging 0.99
IGL02982:Gpsm1 APN 2 26,214,871 (GRCm39) missense probably damaging 1.00
R1271:Gpsm1 UTSW 2 26,234,684 (GRCm39) missense probably damaging 0.99
R1639:Gpsm1 UTSW 2 26,235,199 (GRCm39) missense probably damaging 1.00
R1766:Gpsm1 UTSW 2 26,215,395 (GRCm39) missense probably damaging 1.00
R1854:Gpsm1 UTSW 2 26,234,725 (GRCm39) missense probably damaging 1.00
R2900:Gpsm1 UTSW 2 26,235,174 (GRCm39) missense probably benign 0.00
R2994:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R2995:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R2996:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4227:Gpsm1 UTSW 2 26,229,638 (GRCm39) splice site probably benign
R4391:Gpsm1 UTSW 2 26,214,009 (GRCm39) missense probably damaging 1.00
R4413:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4461:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4469:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4659:Gpsm1 UTSW 2 26,209,843 (GRCm39) unclassified probably benign
R4786:Gpsm1 UTSW 2 26,212,493 (GRCm39) missense probably benign 0.01
R5025:Gpsm1 UTSW 2 26,210,008 (GRCm39) missense possibly damaging 0.90
R5057:Gpsm1 UTSW 2 26,215,369 (GRCm39) missense probably damaging 0.96
R5171:Gpsm1 UTSW 2 26,217,476 (GRCm39) intron probably benign
R5356:Gpsm1 UTSW 2 26,230,574 (GRCm39) missense possibly damaging 0.73
R5417:Gpsm1 UTSW 2 26,214,045 (GRCm39) critical splice donor site probably null
R5967:Gpsm1 UTSW 2 26,230,546 (GRCm39) splice site probably null
R6153:Gpsm1 UTSW 2 26,215,425 (GRCm39) missense probably benign 0.14
R6969:Gpsm1 UTSW 2 26,230,555 (GRCm39) missense probably benign 0.01
R7006:Gpsm1 UTSW 2 26,212,572 (GRCm39) missense probably damaging 1.00
R7819:Gpsm1 UTSW 2 26,229,705 (GRCm39) missense probably damaging 0.98
R7867:Gpsm1 UTSW 2 26,230,448 (GRCm39) missense probably benign 0.38
R8194:Gpsm1 UTSW 2 26,217,364 (GRCm39) frame shift probably null
R8195:Gpsm1 UTSW 2 26,214,929 (GRCm39) splice site probably null
R8857:Gpsm1 UTSW 2 26,230,457 (GRCm39) missense possibly damaging 0.47
R9267:Gpsm1 UTSW 2 26,236,835 (GRCm39) missense probably damaging 1.00
R9281:Gpsm1 UTSW 2 26,214,488 (GRCm39) missense probably damaging 0.99
RF017:Gpsm1 UTSW 2 26,214,884 (GRCm39) missense probably damaging 1.00
Z1176:Gpsm1 UTSW 2 26,217,357 (GRCm39) missense possibly damaging 0.69
Posted On 2014-02-04