Incidental Mutation 'IGL03116:Gcsam'
ID 419426
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 # IGL03116
Quality Score
Status
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 45440431 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Serine at position 136 (F136S)
Ref Sequence ENSEMBL: ENSMUSP00000023339 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000023339
AA Change: F136S

PolyPhen 2 Score 0.562 (Sensitivity: 0.88; Specificity: 0.91)
Predicted Effect possibly damaging
Transcript: ENSMUST00000161347
AA Change: F158S

PolyPhen 2 Score 0.458 (Sensitivity: 0.89; Specificity: 0.90)
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: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1810030O07Rik T C X: 12,535,892 (GRCm39) probably benign Het
9530068E07Rik A G 11: 52,294,331 (GRCm39) I199V probably benign Het
Aasdh A T 5: 77,049,936 (GRCm39) probably null Het
Aatk T C 11: 119,907,577 (GRCm39) I84V probably benign Het
Adcy1 A G 11: 7,100,071 (GRCm39) H727R probably benign Het
Aff2 T C X: 68,878,092 (GRCm39) V626A probably benign Het
Ano2 C A 6: 125,957,134 (GRCm39) Y634* probably null Het
Apob C A 12: 8,066,350 (GRCm39) Q4407K probably damaging Het
Asz1 T C 6: 18,076,642 (GRCm39) probably benign Het
Atp2b4 T G 1: 133,656,506 (GRCm39) T715P possibly damaging Het
Brip1 G T 11: 85,955,735 (GRCm39) S926* probably null Het
Cpd A T 11: 76,702,539 (GRCm39) Y610N probably damaging Het
Dennd4c T C 4: 86,707,057 (GRCm39) probably benign Het
Dido1 G A 2: 180,312,772 (GRCm39) T1041I probably damaging Het
Dpp8 A T 9: 64,973,749 (GRCm39) T658S probably damaging Het
Efcab3 T A 11: 104,612,359 (GRCm39) S661T probably benign Het
Fcer1a G A 1: 173,049,128 (GRCm39) Q172* probably null Het
Frem3 A G 8: 81,339,435 (GRCm39) E576G possibly damaging Het
Glmn T G 5: 107,698,949 (GRCm39) T430P probably damaging Het
Gm5934 T C X: 24,340,931 (GRCm39) N194S probably benign Het
Gpatch11 T A 17: 79,151,282 (GRCm39) L231* probably null Het
Hibadh A T 6: 52,525,917 (GRCm39) N244K probably damaging Het
Kank2 A G 9: 21,684,060 (GRCm39) V723A probably damaging Het
Kcnn2 A T 18: 45,788,273 (GRCm39) D192V probably damaging Het
Ksr2 G A 5: 117,846,022 (GRCm39) E630K probably benign Het
Lmod3 T C 6: 97,224,156 (GRCm39) H555R possibly damaging Het
Mycs A G X: 5,380,922 (GRCm39) F53L probably damaging Het
Ndufa10 G A 1: 92,392,109 (GRCm39) Q215* probably null Het
Ninl C T 2: 150,806,139 (GRCm39) A361T probably damaging Het
Pbsn A G X: 76,891,624 (GRCm39) C58R probably damaging Het
Pcsk1 T A 13: 75,280,335 (GRCm39) L720Q probably damaging Het
Prss12 T C 3: 123,299,925 (GRCm39) F679L probably benign Het
Sohlh1 C T 2: 25,735,660 (GRCm39) probably null Het
Sspo T C 6: 48,471,035 (GRCm39) F701L probably benign Het
Tdp1 T C 12: 99,921,290 (GRCm39) S609P probably benign Het
Tmtc4 T A 14: 123,165,044 (GRCm39) N605I probably benign Het
Tnc G A 4: 63,932,270 (GRCm39) P715S probably damaging Het
Ubn2 T C 6: 38,468,834 (GRCm39) S1181P probably damaging Het
Ubr4 T C 4: 139,206,892 (GRCm39) probably benign Het
Vmn1r46 T C 6: 89,953,898 (GRCm39) F249S probably benign Het
Zfp382 T C 7: 29,833,614 (GRCm39) S422P 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
IGL02986:Gcsam APN 16 45,440,366 (GRCm39) missense probably benign 0.09
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