Incidental Mutation 'IGL00590:Gsg1'
ID27565
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: 0.057) question?
Stock #IGL00590
Quality Score
Status
Chromosome6
Chromosomal Location135237326-135254351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 135244350 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Asparagine at position 17 (I17N)
Ref Sequence ENSEMBL: ENSMUSP00000107540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087729] [ENSMUST00000111909] [ENSMUST00000111910] [ENSMUST00000111911] [ENSMUST00000111916]
Predicted Effect possibly damaging
Transcript: ENSMUST00000087729
AA Change: I20N

PolyPhen 2 Score 0.699 (Sensitivity: 0.86; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000085022
Gene: ENSMUSG00000030206
AA Change: I20N

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: I17N

PolyPhen 2 Score 0.948 (Sensitivity: 0.79; Specificity: 0.95)
SMART Domains Protein: ENSMUSP00000107540
Gene: ENSMUSG00000030206
AA Change: I17N

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 possibly damaging
Transcript: ENSMUST00000111910
AA Change: I17N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107541
Gene: ENSMUSG00000030206
AA Change: I17N

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 possibly damaging
Transcript: ENSMUST00000111911
AA Change: I17N

PolyPhen 2 Score 0.907 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000107542
Gene: ENSMUSG00000030206
AA Change: I17N

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca16 T G 7: 120,423,815 F58C probably damaging Het
Adgrf5 G T 17: 43,453,147 G1320V probably damaging Het
Akap13 A G 7: 75,610,669 K211E probably benign Het
Akap8l T C 17: 32,333,097 D402G possibly damaging Het
Akna T C 4: 63,371,878 I1198V probably benign Het
Apaf1 T A 10: 91,023,788 I832F probably damaging Het
Cbl A C 9: 44,201,198 L67V probably damaging Het
Chl1 T C 6: 103,693,061 Y471H probably benign Het
Cystm1 T A 18: 36,366,675 Y48N unknown Het
Dennd5b T C 6: 149,068,308 T216A probably benign Het
Dpep2 A T 8: 105,988,821 M356K probably damaging Het
Dtymk A G 1: 93,794,724 probably null Het
Fam91a1 A G 15: 58,415,716 D4G possibly damaging Het
Fbxl20 A G 11: 98,093,129 L306P probably damaging Het
Fchsd1 C T 18: 37,965,893 probably benign Het
Fndc1 G A 17: 7,765,101 T1331I unknown Het
Gpatch8 T C 11: 102,480,549 D721G unknown Het
Heyl A G 4: 123,246,630 *327W probably null Het
Kif13b G T 14: 64,779,462 R1359L probably damaging Het
Map3k14 C T 11: 103,237,554 G414S probably damaging Het
Meis2 C T 2: 115,868,793 A330T probably damaging Het
Mrpl9 T C 3: 94,443,696 L61P probably damaging Het
Mrps6 A G 16: 92,099,660 N38D probably benign Het
Muc4 C T 16: 32,754,347 T1407I probably benign Het
Nup107 A G 10: 117,763,803 Y604H probably damaging Het
Pgm2l1 T C 7: 100,255,619 probably null Het
Pisd T C 5: 32,738,412 I441V probably benign Het
Rb1cc1 T C 1: 6,238,296 F52S probably damaging Het
Rnft1 T A 11: 86,495,914 W383R probably damaging Het
Tas2r104 A T 6: 131,685,567 W60R probably damaging Het
Tlr11 A G 14: 50,360,916 T120A probably benign Het
Tmem150b T G 7: 4,723,897 I71L probably benign Het
Zfp296 A G 7: 19,577,835 D89G possibly damaging Het
Other mutations in Gsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00835:Gsg1 APN 6 135244092 missense possibly damaging 0.48
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 On2013-04-17