Incidental Mutation 'R6890:Gsg1'
ID537152
Institutional Source Beutler Lab
Gene Symbol Gsg1
Ensembl Gene ENSMUSG00000030206
Gene Namegerm cell associated 1
Synonyms
MMRRC Submission
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.052) question?
Stock #R6890 (G1)
Quality Score225.009
Status Validated
Chromosome6
Chromosomal Location135237326-135254351 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 135237420 bp
ZygosityHeterozygous
Amino Acid Change Valine to Isoleucine at position 320 (V320I)
Ref Sequence ENSEMBL: ENSMUSP00000107540 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000087729] [ENSMUST00000111909] [ENSMUST00000111910] [ENSMUST00000111911] [ENSMUST00000111915] [ENSMUST00000111916]
Predicted Effect probably benign
Transcript: ENSMUST00000087729
AA Change: V364I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000085022
Gene: ENSMUSG00000030206
AA Change: V364I

DomainStartEndE-ValueType
Pfam:GSG-1 11 125 2e-44 PFAM
Pfam:PMP22_Claudin 169 270 1.1e-9 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000111909
AA Change: V320I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000107540
Gene: ENSMUSG00000030206
AA Change: V320I

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: V361I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107541
Gene: ENSMUSG00000030206
AA Change: V361I

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: V361I

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107542
Gene: ENSMUSG00000030206
AA Change: V361I

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: ENSMUST00000111915
SMART Domains Protein: ENSMUSP00000107546
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
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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.4%
  • 20x: 98.0%
Validation Efficiency 100% (39/39)
Allele List at MGI
Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
9130011E15Rik A G 19: 45,960,357 Y228H probably damaging Het
Alg3 T C 16: 20,605,986 T270A possibly damaging Het
Ambp G C 4: 63,150,359 H140Q probably benign Het
Arhgef10 T C 8: 14,928,786 C18R probably benign Het
Arhgef10l A G 4: 140,544,419 F548S probably damaging Het
Cdhr1 T C 14: 37,085,645 D346G probably damaging Het
Col18a1 T A 10: 77,113,484 probably benign Het
Col1a2 T A 6: 4,539,587 L1285Q unknown Het
Cspg5 T C 9: 110,246,784 L196P probably damaging Het
Dusp10 T G 1: 184,069,196 Y387D probably damaging Het
Epb41 A T 4: 131,935,829 D681E probably damaging Het
Eps8 A G 6: 137,512,257 V381A probably damaging Het
Fam129c T A 8: 71,605,671 V540D probably damaging Het
Fbxw16 A T 9: 109,436,742 S336R probably benign Het
Gm49368 A G 7: 128,081,729 R277G probably benign Het
Iglc3 T A 16: 19,065,508 probably benign Het
Klc4 A T 17: 46,631,843 N598K probably benign Het
Malsu1 A G 6: 49,075,251 Y135C probably damaging Het
Mapkbp1 T C 2: 120,015,802 I477T probably damaging Het
Mtss1 G T 15: 58,951,659 S286R probably damaging Het
Naip2 A C 13: 100,162,041 S496A probably benign Het
Npepps A T 11: 97,267,644 C98* probably null Het
Nphp3 A C 9: 104,041,954 Y1267S probably damaging Het
Npr3 A G 15: 11,883,392 V317A possibly damaging Het
Nsun6 A G 2: 15,048,977 I7T probably damaging Het
Olfr1342 A G 4: 118,689,531 V307A possibly damaging Het
Olfr1480 C T 19: 13,530,081 T180I probably damaging Het
Olfr632 A T 7: 103,937,859 T160S possibly damaging Het
Pcnx A G 12: 81,971,376 H1330R probably benign Het
Rad17 T C 13: 100,637,084 I201V probably benign Het
Slc26a4 G A 12: 31,549,951 T126M possibly damaging Het
Slitrk6 A T 14: 110,751,096 L393* probably null Het
Snx2 A G 18: 53,212,879 H378R probably damaging Het
Tex21 A G 12: 76,239,455 probably null Het
Trio A T 15: 27,919,288 probably benign Het
Vpreb2 T C 16: 17,980,956 I102T probably damaging Het
Zfp617 T G 8: 71,932,166 H113Q probably benign Het
Zgpat T A 2: 181,378,511 I237N probably damaging Het
Other mutations in Gsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Gsg1 APN 6 135244350 missense possibly damaging 0.95
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
R7486:Gsg1 UTSW 6 135237429 missense probably benign 0.09
R8300:Gsg1 UTSW 6 135237582 missense probably benign
Predicted Primers PCR Primer
(F):5'- AGCGTGTAGTCTAGAACCTGC -3'
(R):5'- TGCTGGAGTTCAAGTGCAGG -3'

Sequencing Primer
(F):5'- CGTGTAGTCTAGAACCTGCCTTAAG -3'
(R):5'- AGCACCACCGCTGTTTC -3'
Posted On2018-10-18