Incidental Mutation 'R5778:Gsg1'
ID 446811
Institutional Source Beutler Lab
Gene Symbol Gsg1
Ensembl Gene ENSMUSG00000030206
Gene Name germ cell associated 1
Synonyms
MMRRC Submission 043376-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.054) question?
Stock # R5778 (G1)
Quality Score 225
Status Not validated
Chromosome 6
Chromosomal Location 135214327-135231334 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 135221348 bp (GRCm39)
Zygosity Heterozygous
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]
AlphaFold no structure available at present
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
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.9%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acta1 A G 8: 124,618,864 (GRCm39) S340P probably benign Het
Anpep T C 7: 79,486,139 (GRCm39) T528A probably benign Het
Apob T A 12: 8,065,074 (GRCm39) D4014E probably benign Het
Atp23 A G 10: 126,735,451 (GRCm39) C78R probably damaging Het
Atp8b3 A G 10: 80,356,007 (GRCm39) F1235S probably benign Het
B3gnt3 T C 8: 72,145,582 (GRCm39) D262G probably benign Het
Bltp1 A T 3: 37,012,863 (GRCm39) I1848F probably damaging Het
Brca1 G A 11: 101,416,127 (GRCm39) A669V possibly damaging Het
Caprin2 A T 6: 148,770,820 (GRCm39) S391R probably benign Het
Cdh15 G A 8: 123,583,326 (GRCm39) R43Q possibly damaging Het
Celsr1 A T 15: 85,917,156 (GRCm39) N272K probably damaging Het
Cryzl2 T G 1: 157,298,357 (GRCm39) S249A probably benign Het
Dsg1b A T 18: 20,542,279 (GRCm39) T929S possibly damaging Het
Dusp16 G T 6: 134,695,277 (GRCm39) T518N probably benign Het
Eno2 A T 6: 124,743,261 (GRCm39) H158Q probably damaging Het
Ep400 T C 5: 110,867,450 (GRCm39) D954G unknown Het
Erg28 T C 12: 85,866,254 (GRCm39) T75A possibly damaging Het
Fam135b T A 15: 71,350,881 (GRCm39) T332S probably damaging Het
Fam221b A G 4: 43,660,683 (GRCm39) F357L probably damaging Het
Fcgr2b C T 1: 170,790,957 (GRCm39) G279R probably damaging Het
Fryl A T 5: 73,230,121 (GRCm39) L1679M probably damaging Het
Galm T A 17: 80,435,146 (GRCm39) M1K probably null Het
Hif3a A T 7: 16,785,909 (GRCm39) I129N probably damaging Het
Ighv1-11 A T 12: 114,576,051 (GRCm39) W55R probably damaging Het
Ighv1-20 C A 12: 114,687,497 (GRCm39) K82N probably benign Het
Igsf21 C T 4: 139,764,832 (GRCm39) E148K probably benign Het
Il22b C A 10: 118,130,768 (GRCm39) E43* probably null Het
Klhdc7b A T 15: 89,271,523 (GRCm39) R802W probably damaging Het
Krt8 T C 15: 101,912,374 (GRCm39) I101V probably damaging Het
Lrrc7 A G 3: 157,876,380 (GRCm39) L570P probably damaging Het
Map4k1 C G 7: 28,693,646 (GRCm39) N412K probably benign Het
Metrnl A T 11: 121,605,564 (GRCm39) I118F possibly damaging Het
Mmp12 T A 9: 7,350,106 (GRCm39) D202E probably damaging Het
Mpp2 A T 11: 101,955,269 (GRCm39) S119T probably benign Het
Ncoa6 T C 2: 155,248,688 (GRCm39) T1539A probably benign Het
Nlrc5 A G 8: 95,206,154 (GRCm39) T715A possibly damaging Het
Nsd1 T A 13: 55,454,792 (GRCm39) N1963K probably damaging Het
Nsd3 T C 8: 26,149,834 (GRCm39) Y340H probably damaging Het
Nwd1 T A 8: 73,419,745 (GRCm39) S977T probably damaging Het
Or5d39 T A 2: 87,979,961 (GRCm39) Y134F probably damaging Het
Or7d10 G T 9: 19,832,337 (GRCm39) M277I probably benign Het
Pcdh8 T C 14: 80,008,197 (GRCm39) E122G probably damaging Het
Pcmtd2 A C 2: 181,496,991 (GRCm39) T323P probably benign Het
Pign C A 1: 105,519,447 (GRCm39) G492C probably damaging Het
Plppr3 A G 10: 79,702,337 (GRCm39) V245A possibly damaging Het
Prl7a2 C T 13: 27,844,983 (GRCm39) W134* probably null Het
Prom1 A T 5: 44,164,389 (GRCm39) N722K probably benign Het
Rasal2 A T 1: 156,988,860 (GRCm39) N663K probably damaging Het
Rgl1 G T 1: 152,428,172 (GRCm39) H315Q probably benign Het
Smpdl3a C A 10: 57,677,097 (GRCm39) A65E probably damaging Het
Spdye4b G A 5: 143,188,142 (GRCm39) D212N probably damaging Het
Tafa3 T A 3: 104,679,505 (GRCm39) K126N probably damaging Het
Tanc1 G T 2: 59,529,691 (GRCm39) probably null Het
Trio A G 15: 27,856,250 (GRCm39) V706A probably benign Het
Tshz1 T A 18: 84,033,805 (GRCm39) Q201L probably damaging Het
Ubqln1 C T 13: 58,331,131 (GRCm39) M365I probably benign Het
Usp42 A T 5: 143,705,331 (GRCm39) Y383N probably damaging Het
Vmn1r189 A G 13: 22,286,552 (GRCm39) I95T probably damaging Het
Vmn2r49 A T 7: 9,710,274 (GRCm39) S819R probably damaging Het
Other mutations in Gsg1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00590:Gsg1 APN 6 135,221,348 (GRCm39) missense possibly damaging 0.95
IGL00835:Gsg1 APN 6 135,221,090 (GRCm39) missense possibly damaging 0.48
PIT4514001:Gsg1 UTSW 6 135,214,574 (GRCm39) missense probably benign
PIT4585001:Gsg1 UTSW 6 135,214,558 (GRCm39) missense probably benign
R2180:Gsg1 UTSW 6 135,217,143 (GRCm39) missense probably damaging 1.00
R3522:Gsg1 UTSW 6 135,218,251 (GRCm39) missense probably damaging 1.00
R4735:Gsg1 UTSW 6 135,214,405 (GRCm39) missense possibly damaging 0.95
R5183:Gsg1 UTSW 6 135,218,368 (GRCm39) missense probably damaging 1.00
R6226:Gsg1 UTSW 6 135,217,110 (GRCm39) missense probably damaging 1.00
R6739:Gsg1 UTSW 6 135,214,612 (GRCm39) missense probably damaging 1.00
R6890:Gsg1 UTSW 6 135,214,418 (GRCm39) missense probably benign 0.00
R7486:Gsg1 UTSW 6 135,214,427 (GRCm39) missense probably benign 0.09
R8300:Gsg1 UTSW 6 135,214,580 (GRCm39) missense probably benign
R9599:Gsg1 UTSW 6 135,217,098 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- CAGTCTCCCAGGTGTATTGTAC -3'
(R):5'- TTGCTCCTGGCCACATAGAAG -3'

Sequencing Primer
(F):5'- GTGTATTGTACCACCTCCTGGG -3'
(R):5'- TCCTGGCCACATAGAAGCATGG -3'
Posted On 2016-12-15