Incidental Mutation 'IGL00755:Gsg1l'
ID12654
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsg1l
Ensembl Gene ENSMUSG00000046182
Gene NameGSG1-like
SynonymsC230098I05Rik, G630023A01Rik
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL00755
Quality Score
Status
Chromosome7
Chromosomal Location125878420-126082411 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 125923426 bp
ZygosityHeterozygous
Amino Acid Change Phenylalanine to Serine at position 210 (F210S)
Ref Sequence ENSEMBL: ENSMUSP00000073591 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000073935]
Predicted Effect possibly damaging
Transcript: ENSMUST00000073935
AA Change: F210S

PolyPhen 2 Score 0.811 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000073591
Gene: ENSMUSG00000046182
AA Change: F210S

DomainStartEndE-ValueType
Pfam:GSG-1 5 122 4.9e-46 PFAM
Pfam:PMP22_Claudin 8 227 8.5e-12 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 21 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca13 A G 11: 9,542,102 Y4381C possibly damaging Het
Card6 G A 15: 5,098,941 T991I possibly damaging Het
Cd163 A G 6: 124,318,657 N684S possibly damaging Het
Cep290 A G 10: 100,531,104 T1106A probably damaging Het
Cplx4 T A 18: 65,957,095 probably benign Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Dnah6 A T 6: 73,212,434 probably null Het
Dock8 A G 19: 25,051,509 K26E probably benign Het
Fancl G A 11: 26,470,916 V349I probably benign Het
Mboat2 T A 12: 24,957,646 V419E probably benign Het
Mycbp2 A G 14: 103,194,621 V2327A possibly damaging Het
Ndnf C T 6: 65,703,258 P174S probably damaging Het
Nlrp9b A T 7: 20,023,522 D228V probably damaging Het
Prps2 A T X: 167,374,142 I56N possibly damaging Het
Reln A G 5: 22,060,380 V438A probably damaging Het
Rmdn1 T A 4: 19,580,401 N42K probably benign Het
Sass6 G A 3: 116,618,328 E312K probably damaging Het
Scrn1 T A 6: 54,520,709 D299V possibly damaging Het
Slk T A 19: 47,609,010 C86S probably damaging Het
Veph1 C T 3: 66,255,010 E76K probably damaging Het
Zfp282 C T 6: 47,880,390 P186S probably damaging Het
Other mutations in Gsg1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01873:Gsg1l APN 7 125958443 missense probably damaging 1.00
IGL02148:Gsg1l APN 7 125923499 missense possibly damaging 0.82
IGL03076:Gsg1l APN 7 125923493 missense probably benign 0.03
R0456:Gsg1l UTSW 7 125923510 missense possibly damaging 0.67
R0513:Gsg1l UTSW 7 126020623 critical splice donor site probably null
R1771:Gsg1l UTSW 7 125958573 missense probably damaging 1.00
R1827:Gsg1l UTSW 7 125910197 missense possibly damaging 0.86
R3084:Gsg1l UTSW 7 125891680 missense probably benign 0.36
R3085:Gsg1l UTSW 7 125891680 missense probably benign 0.36
R3086:Gsg1l UTSW 7 125891680 missense probably benign 0.36
R4607:Gsg1l UTSW 7 125958549 missense probably damaging 1.00
R4608:Gsg1l UTSW 7 125958549 missense probably damaging 1.00
R4876:Gsg1l UTSW 7 125891669 missense probably benign 0.04
R6995:Gsg1l UTSW 7 125923486 missense probably damaging 0.96
RF016:Gsg1l UTSW 7 126020622 critical splice donor site probably null
Z1177:Gsg1l UTSW 7 126082242 start gained probably benign
Posted On2012-12-06