Incidental Mutation 'IGL02986:Gcsam'
ID 406720
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gcsam
Ensembl Gene ENSMUSG00000022659
Gene Name germinal center associated, signaling and motility
Synonyms M17, Gcet2
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # IGL02986
Quality Score
Status
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 45440366 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Leucine at position 136 (F136L)
Ref Sequence ENSEMBL: ENSMUSP00000123853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect probably benign
Transcript: ENSMUST00000023339
AA Change: F114L

PolyPhen 2 Score 0.075 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000161347
AA Change: F136L

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which may function in signal transduction pathways and whose expression is elevated in germinal cell lymphomas. It contains a putative PDZ-interacting domain, an immunoreceptor tyrosine-based activation motif (ITAM), and two putative SH2 binding sites. In B cells, its expression is specifically induced by interleukin-4. Alternative splicing results in multiple transcript variants encoding different isoforms. [provided by RefSeq, Jul 2008]
PHENOTYPE: Homozygous mutation of this gene results in a decreased number of and smaller Peyer's patches. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Agrn A G 4: 156,263,311 (GRCm39) V264A possibly damaging Het
Akr1c6 G T 13: 4,486,414 (GRCm39) V74L probably benign Het
Atp10a T G 7: 58,478,469 (GRCm39) V1504G probably benign Het
Ccng1 A G 11: 40,641,690 (GRCm39) probably benign Het
Celsr3 A T 9: 108,718,454 (GRCm39) probably null Het
Coro1b T C 19: 4,199,470 (GRCm39) V43A possibly damaging Het
Dab1 A G 4: 104,336,418 (GRCm39) T5A probably benign Het
Dennd5a C T 7: 109,534,731 (GRCm39) A47T probably benign Het
Dgkb A G 12: 38,150,399 (GRCm39) T69A possibly damaging Het
Dhx37 G A 5: 125,496,379 (GRCm39) P721L probably damaging Het
Efr3b T C 12: 4,016,495 (GRCm39) N641D probably benign Het
Espnl A T 1: 91,272,572 (GRCm39) Q600L probably benign Het
Esyt1 A G 10: 128,352,626 (GRCm39) V693A probably damaging Het
Fscn2 A G 11: 120,258,176 (GRCm39) D366G possibly damaging Het
Gm10643 A T 8: 84,790,887 (GRCm39) probably benign Het
Habp2 A T 19: 56,299,624 (GRCm39) D174V probably benign Het
Hgfac T C 5: 35,201,207 (GRCm39) V210A probably benign Het
Hipk3 T C 2: 104,264,086 (GRCm39) D804G probably damaging Het
L3mbtl1 T C 2: 162,812,225 (GRCm39) W757R probably damaging Het
Lrrfip2 A G 9: 110,990,461 (GRCm39) probably null Het
Ly75 T C 2: 60,138,535 (GRCm39) D1444G probably damaging Het
Mars1 A G 10: 127,133,438 (GRCm39) V765A probably benign Het
Med1 A G 11: 98,047,086 (GRCm39) probably benign Het
Msln G A 17: 25,971,907 (GRCm39) probably benign Het
Nup188 T A 2: 30,197,645 (GRCm39) probably null Het
Or1p1c T G 11: 74,160,928 (GRCm39) F238V possibly damaging Het
Or7e173 A T 9: 19,939,007 (GRCm39) F76I probably benign Het
Otop2 T A 11: 115,220,393 (GRCm39) M411K probably benign Het
Picalm A G 7: 89,856,793 (GRCm39) I649M probably benign Het
Plekha8 T C 6: 54,606,851 (GRCm39) L382P probably damaging Het
Pspn A G 17: 57,306,853 (GRCm39) probably benign Het
Rnf215 A G 11: 4,089,793 (GRCm39) T269A probably damaging Het
Rps6kc1 A T 1: 190,566,258 (GRCm39) L329Q probably damaging Het
Srms T A 2: 180,854,290 (GRCm39) R92S possibly damaging Het
Ssxb10 C A X: 8,201,845 (GRCm39) S157* probably null Het
Tfap2c T C 2: 172,399,171 (GRCm39) S448P probably damaging Het
Thsd7b A G 1: 129,843,352 (GRCm39) N855D probably benign Het
Timeless A C 10: 128,085,629 (GRCm39) D887A possibly damaging Het
Tyms T C 5: 30,266,997 (GRCm39) Y169C probably damaging Het
Unc45b T A 11: 82,808,005 (GRCm39) C207S probably damaging Het
Utp20 A G 10: 88,611,147 (GRCm39) F1390S probably damaging Het
Vmn2r53 A T 7: 12,315,393 (GRCm39) probably benign Het
Zfp369 A T 13: 65,428,095 (GRCm39) D18V probably damaging Het
Other mutations in Gcsam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Gcsam APN 16 45,436,315 (GRCm39) missense probably damaging 0.99
IGL02136:Gcsam APN 16 45,430,896 (GRCm39) start codon destroyed probably null 1.00
IGL03116:Gcsam APN 16 45,440,431 (GRCm39) missense possibly damaging 0.56
Germ UTSW 16 45,437,301 (GRCm39) critical splice donor site probably null
R1441:Gcsam UTSW 16 45,433,401 (GRCm39) missense probably benign 0.06
R1716:Gcsam UTSW 16 45,440,356 (GRCm39) missense probably damaging 1.00
R1981:Gcsam UTSW 16 45,440,337 (GRCm39) missense probably damaging 1.00
R3976:Gcsam UTSW 16 45,440,192 (GRCm39) missense probably damaging 0.96
R5584:Gcsam UTSW 16 45,440,226 (GRCm39) missense probably benign 0.25
R7414:Gcsam UTSW 16 45,437,301 (GRCm39) critical splice donor site probably null
R7417:Gcsam UTSW 16 45,440,240 (GRCm39) missense probably damaging 1.00
R7918:Gcsam UTSW 16 45,440,502 (GRCm39) makesense probably null
R8308:Gcsam UTSW 16 45,430,902 (GRCm39) missense probably damaging 1.00
R8369:Gcsam UTSW 16 45,436,369 (GRCm39) missense probably damaging 1.00
R9741:Gcsam UTSW 16 45,436,319 (GRCm39) missense possibly damaging 0.92
Posted On 2016-08-02