Incidental Mutation 'IGL01347:Gps1'
ID75105
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gps1
Ensembl Gene ENSMUSG00000025156
Gene NameG protein pathway suppressor 1
SynonymsCsn1, COPS1
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL01347
Quality Score
Status
Chromosome11
Chromosomal Location120784272-120789102 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120788260 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 378 (V378A)
Ref Sequence ENSEMBL: ENSMUSP00000097711 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000026151] [ENSMUST00000026156] [ENSMUST00000100134] [ENSMUST00000106133] [ENSMUST00000106135] [ENSMUST00000116305] [ENSMUST00000143139] [ENSMUST00000172809] [ENSMUST00000208737] [ENSMUST00000153678] [ENSMUST00000167023]
Predicted Effect probably benign
Transcript: ENSMUST00000026151
SMART Domains Protein: ENSMUSP00000026151
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 314 5.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000026156
SMART Domains Protein: ENSMUSP00000026156
Gene: ENSMUSG00000025158

DomainStartEndE-ValueType
transmembrane domain 7 29 N/A INTRINSIC
Pfam:Fringe 54 306 1.1e-116 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000100134
AA Change: V378A

PolyPhen 2 Score 0.440 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000097711
Gene: ENSMUSG00000025156
AA Change: V378A

DomainStartEndE-ValueType
Pfam:RPN7 123 305 4.9e-78 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000106133
SMART Domains Protein: ENSMUSP00000101739
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 314 8.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000106135
SMART Domains Protein: ENSMUSP00000101741
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 314 8.5e-76 PFAM
low complexity region 367 378 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000116305
AA Change: V378A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000112007
Gene: ENSMUSG00000025156
AA Change: V378A

DomainStartEndE-ValueType
Pfam:RPN7 123 305 1.3e-77 PFAM
PINT 356 439 5.77e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000123273
Predicted Effect noncoding transcript
Transcript: ENSMUST00000125156
Predicted Effect noncoding transcript
Transcript: ENSMUST00000132422
Predicted Effect noncoding transcript
Transcript: ENSMUST00000142418
Predicted Effect probably benign
Transcript: ENSMUST00000143139
SMART Domains Protein: ENSMUSP00000118773
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 194 1.6e-48 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000144519
Predicted Effect probably benign
Transcript: ENSMUST00000172809
AA Change: V417A

PolyPhen 2 Score 0.296 (Sensitivity: 0.91; Specificity: 0.89)
SMART Domains Protein: ENSMUSP00000133855
Gene: ENSMUSG00000025156
AA Change: V417A

DomainStartEndE-ValueType
low complexity region 4 24 N/A INTRINSIC
low complexity region 37 49 N/A INTRINSIC
Pfam:RPN7 162 344 8.8e-77 PFAM
PINT 395 478 5.77e-19 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156723
Predicted Effect probably benign
Transcript: ENSMUST00000208737
AA Change: V377A

PolyPhen 2 Score 0.129 (Sensitivity: 0.93; Specificity: 0.86)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000146008
Predicted Effect probably benign
Transcript: ENSMUST00000153678
Predicted Effect probably benign
Transcript: ENSMUST00000167023
SMART Domains Protein: ENSMUSP00000132516
Gene: ENSMUSG00000025155

DomainStartEndE-ValueType
Pfam:Dus 20 322 1.6e-75 PFAM
low complexity region 360 371 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene is known to suppress G-protein and mitogen-activated signal transduction in mammalian cells. The encoded protein shares significant similarity with Arabidopsis FUS6, which is a regulator of light-mediated signal transduction in plant cells. [provided by RefSeq, Mar 2016]
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1600015I10Rik A T 6: 48,932,543 Y574F probably benign Het
Apc C T 18: 34,317,670 P2506S probably damaging Het
Bdp1 T A 13: 100,070,203 K610N possibly damaging Het
Bri3bp T G 5: 125,454,517 C176G probably damaging Het
Carnmt1 A G 19: 18,691,454 I248V probably benign Het
Ccdc88b A G 19: 6,845,086 L1475P probably damaging Het
Cfap100 C T 6: 90,406,121 V511M possibly damaging Het
Chchd3 T C 6: 32,803,903 N78S probably benign Het
Cnnm4 G A 1: 36,498,034 E480K possibly damaging Het
Cyp2d34 T A 15: 82,616,777 I385F possibly damaging Het
D930048N14Rik T A 11: 51,654,788 probably benign Het
Dgkg A T 16: 22,600,590 D53E probably benign Het
Dlx3 T A 11: 95,120,533 L71H probably damaging Het
Egln2 A C 7: 27,160,292 V332G probably null Het
Entpd2 A G 2: 25,398,734 Q250R probably benign Het
Epyc A G 10: 97,674,731 D132G probably damaging Het
Fxr2 A G 11: 69,652,288 D637G probably benign Het
Gapvd1 A G 2: 34,706,696 probably null Het
Gbp11 G A 5: 105,331,328 probably benign Het
Gm17175 A T 14: 51,570,850 C162S probably damaging Het
Gm5499 C T 17: 87,078,911 noncoding transcript Het
Gm5724 A T 6: 141,754,466 Y113* probably null Het
Grik1 C T 16: 87,957,593 R368Q probably benign Het
Gsap A G 5: 21,226,320 E214G probably benign Het
Hist1h2bl A G 13: 21,715,894 Y84H probably damaging Het
Jdp2 T C 12: 85,608,246 S28P probably benign Het
Kif26b T C 1: 178,870,675 F577S probably damaging Het
Kl G A 5: 150,980,665 G294D probably damaging Het
Lgsn T A 1: 31,203,960 D374E probably damaging Het
Lman1 T C 18: 65,991,610 I353V probably damaging Het
Lmna T C 3: 88,484,963 H374R probably benign Het
Lrrc57 A G 2: 120,608,805 S31P probably benign Het
Lum T A 10: 97,568,685 N147K probably damaging Het
Olfr430 T C 1: 174,070,066 I256T probably benign Het
Olfr57 A G 10: 79,035,611 T272A probably benign Het
P4ha3 C A 7: 100,305,933 L332I probably damaging Het
Pelp1 A G 11: 70,395,679 I541T probably damaging Het
Pja2 A C 17: 64,313,028 S2A probably benign Het
Rhbdl3 T C 11: 80,353,442 L325P probably damaging Het
Robo2 T C 16: 74,352,856 D28G probably damaging Het
Rpa1 A G 11: 75,307,285 Y470H probably damaging Het
Rtn3 T C 19: 7,457,280 N430S probably benign Het
Scg2 T A 1: 79,436,821 I62L probably benign Het
Scn5a T A 9: 119,562,441 K62* probably null Het
Sec23ip T C 7: 128,762,405 V469A probably benign Het
Shank1 A G 7: 44,342,120 T663A unknown Het
Stab2 G T 10: 86,901,703 probably null Het
Tmcc3 T C 10: 94,582,285 L305P probably damaging Het
Tmem145 A G 7: 25,314,835 N458S probably damaging Het
Tpr G A 1: 150,426,987 R1412Q probably damaging Het
Wdr1 A T 5: 38,545,715 F173I possibly damaging Het
Wdr17 C T 8: 54,651,345 V898I probably benign Het
Wdr64 A T 1: 175,720,333 L145F probably benign Het
Wnt10b A G 15: 98,776,945 probably benign Het
Zfyve26 A T 12: 79,252,183 probably null Het
Other mutations in Gps1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02803:Gps1 APN 11 120786823 missense probably damaging 1.00
R1977:Gps1 UTSW 11 120785826 missense probably damaging 0.98
R2366:Gps1 UTSW 11 120788119 missense probably damaging 1.00
R3923:Gps1 UTSW 11 120786433 missense possibly damaging 0.74
R4631:Gps1 UTSW 11 120788239 splice site probably null
R5701:Gps1 UTSW 11 120785182 missense probably benign 0.41
R6415:Gps1 UTSW 11 120787722 missense possibly damaging 0.56
R6824:Gps1 UTSW 11 120787428 missense probably damaging 0.98
R7557:Gps1 UTSW 11 120786367 missense probably benign 0.01
R7936:Gps1 UTSW 11 120786373 missense probably damaging 0.98
Posted On2013-10-07