Incidental Mutation 'IGL00835:Gsg1'
ID12653
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsg1
Ensembl Gene ENSMUSG00000030206
Gene Namegerm cell associated 1
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.061) question?
Stock #IGL00835
Quality Score
Status
Chromosome6
Chromosomal Location135237326-135254351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 135244092 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Lysine at position 103 (M103K)
Ref Sequence ENSEMBL: ENSMUSP00000107540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087729] [ENSMUST00000111909] [ENSMUST00000111910] [ENSMUST00000111911] [ENSMUST00000111916]
Predicted Effect probably benign
Transcript: ENSMUST00000087729
AA Change: M106K

PolyPhen 2 Score 0.181 (Sensitivity: 0.92; Specificity: 0.87)
SMART Domains Protein: ENSMUSP00000085022
Gene: ENSMUSG00000030206
AA Change: M106K

DomainStartEndE-ValueType
Pfam:GSG-1 11 125 2e-44 PFAM
Pfam:PMP22_Claudin 169 270 1.1e-9 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000111909
AA Change: M103K

PolyPhen 2 Score 0.478 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107540
Gene: ENSMUSG00000030206
AA Change: M103K

DomainStartEndE-ValueType
Pfam:GSG-1 5 123 3.1e-44 PFAM
Pfam:PMP22_Claudin 12 226 4.5e-11 PFAM
Pfam:Claudin_2 20 226 8.3e-11 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111910
AA Change: M103K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107541
Gene: ENSMUSG00000030206
AA Change: M103K

DomainStartEndE-ValueType
Pfam:GSG-1 5 123 5.2e-44 PFAM
Pfam:Claudin_2 20 267 1.5e-9 PFAM
Pfam:PMP22_Claudin 166 267 8.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111911
AA Change: M103K

PolyPhen 2 Score 0.422 (Sensitivity: 0.89; Specificity: 0.90)
SMART Domains Protein: ENSMUSP00000107542
Gene: ENSMUSG00000030206
AA Change: M103K

DomainStartEndE-ValueType
Pfam:GSG-1 5 123 5.2e-44 PFAM
Pfam:Claudin_2 20 267 1.5e-9 PFAM
Pfam:PMP22_Claudin 166 267 8.7e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111916
SMART Domains Protein: ENSMUSP00000107547
Gene: ENSMUSG00000030207

DomainStartEndE-ValueType
transmembrane domain 105 127 N/A INTRINSIC
low complexity region 500 517 N/A INTRINSIC
low complexity region 521 528 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 T C 1: 71,302,733 D1023G probably damaging Het
Agbl3 A G 6: 34,799,732 D391G probably damaging Het
Aggf1 C A 13: 95,362,477 V450F probably damaging Het
Alms1 A G 6: 85,622,134 Y1314C probably damaging Het
Arfgef3 A G 10: 18,661,358 F192L probably benign Het
Arnt A G 3: 95,490,340 D541G probably damaging Het
AU040320 A G 4: 126,757,071 probably null Het
Cep290 A T 10: 100,563,380 R2255* probably null Het
Creb3l4 T A 3: 90,241,987 H138L possibly damaging Het
Crispld2 G A 8: 120,010,648 R46H probably damaging Het
Crlf3 T C 11: 80,047,675 T379A probably benign Het
Ctsb T A 14: 63,135,650 D85E probably damaging Het
Etv2 A T 7: 30,633,667 D325E probably benign Het
Fggy T A 4: 95,837,628 I335N possibly damaging Het
Fkbp1b C T 12: 4,833,726 G90S probably damaging Het
Glra3 A G 8: 55,940,977 probably benign Het
Gpatch8 C A 11: 102,478,549 A1388S probably damaging Het
Grin2b T A 6: 135,733,570 S993C probably damaging Het
Il12rb2 A T 6: 67,360,567 V110D probably damaging Het
Kat8 A G 7: 127,920,504 D174G probably damaging Het
Krt82 A T 15: 101,543,378 I334N probably damaging Het
Lrrfip1 C T 1: 91,115,418 T515I possibly damaging Het
Lrrtm2 T A 18: 35,214,239 L3F probably benign Het
Man1c1 T A 4: 134,564,532 Q575L probably damaging Het
Panx1 A G 9: 15,007,844 S240P probably damaging Het
Phldb2 G A 16: 45,751,456 T1191I probably damaging Het
Plb1 G A 5: 32,364,172 E1456K unknown Het
Prtn3 A G 10: 79,881,052 T84A probably benign Het
R3hdm1 T C 1: 128,235,632 probably benign Het
Sirpa G A 2: 129,609,183 C121Y probably damaging Het
Slc9a3 C A 13: 74,160,302 H475N probably benign Het
Smgc A T 15: 91,844,420 D121V probably damaging Het
Spata16 A T 3: 26,924,262 E459V probably damaging Het
Sult2a4 T A 7: 13,909,789 E284D probably benign Het
Tbc1d32 A G 10: 56,089,846 probably benign Het
Thsd7a A C 6: 12,554,934 V317G probably damaging Het
Trh T C 6: 92,242,789 E182G probably benign Het
Tsc1 A G 2: 28,672,466 D368G possibly damaging Het
Ttc39d T G 17: 80,216,526 C205G probably damaging Het
Unc79 T G 12: 103,141,890 probably benign Het
Vps13d A T 4: 145,160,652 D724E probably damaging Het
Zc3h14 T A 12: 98,747,524 probably null Het
Zfp507 G T 7: 35,776,038 H917N probably damaging Het
Other mutations in Gsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Gsg1 APN 6 135244350 missense possibly damaging 0.95
PIT4514001:Gsg1 UTSW 6 135237576 missense probably benign
PIT4585001:Gsg1 UTSW 6 135237560 missense probably benign
R2180:Gsg1 UTSW 6 135240145 missense probably damaging 1.00
R3522:Gsg1 UTSW 6 135241253 missense probably damaging 1.00
R4735:Gsg1 UTSW 6 135237407 missense possibly damaging 0.95
R5183:Gsg1 UTSW 6 135241370 missense probably damaging 1.00
R5778:Gsg1 UTSW 6 135244350 missense possibly damaging 0.95
R6226:Gsg1 UTSW 6 135240112 missense probably damaging 1.00
R6739:Gsg1 UTSW 6 135237614 missense probably damaging 1.00
R6890:Gsg1 UTSW 6 135237420 missense probably benign 0.00
R7486:Gsg1 UTSW 6 135237429 missense probably benign 0.09
Posted On2012-12-06