Incidental Mutation 'R1441:Gcsam'
ID 161032
Institutional Source Beutler Lab
Gene Symbol Gcsam
Ensembl Gene ENSMUSG00000022659
Gene Name germinal center associated, signaling and motility
Synonyms M17, Gcet2
MMRRC Submission 039496-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R1441 (G1)
Quality Score 225
Status Not validated
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45433401 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 15 (M15K)
Ref Sequence ENSEMBL: ENSMUSP00000123853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect probably benign
Transcript: ENSMUST00000023339
Predicted Effect
Predicted Effect probably benign
Transcript: ENSMUST00000161347
AA Change: M15K

PolyPhen 2 Score 0.061 (Sensitivity: 0.94; Specificity: 0.84)
Coding Region Coverage
  • 1x: 99.0%
  • 3x: 98.1%
  • 10x: 95.6%
  • 20x: 90.4%
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: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 A T 8: 114,481,194 (GRCm39) probably null Het
Ankrd16 T C 2: 11,783,557 (GRCm39) L53P probably damaging Het
Arsk A T 13: 76,223,083 (GRCm39) N171K probably benign Het
Brwd1 A C 16: 95,867,351 (GRCm39) C161W probably damaging Het
Card9 T C 2: 26,249,402 (GRCm39) N53S probably benign Het
Ccdc13 A T 9: 121,642,515 (GRCm39) V403E probably benign Het
Ccdc83 T A 7: 89,893,351 (GRCm39) E135D probably damaging Het
Ccser1 C T 6: 62,357,016 (GRCm39) T818I probably benign Het
Cd44 T A 2: 102,676,763 (GRCm39) T301S probably damaging Het
Eepd1 G A 9: 25,394,499 (GRCm39) M254I probably benign Het
Ephb4 C T 5: 137,359,509 (GRCm39) R360C probably damaging Het
Fam149a G T 8: 45,808,684 (GRCm39) Q150K probably damaging Het
G6pc2 G A 2: 69,051,198 (GRCm39) C97Y probably damaging Het
Impdh2 C A 9: 108,441,975 (GRCm39) T201K probably benign Het
Kdm2b C T 5: 123,070,943 (GRCm39) E379K probably benign Het
Mcm3ap T C 10: 76,307,000 (GRCm39) V371A probably benign Het
Mink1 T A 11: 70,497,940 (GRCm39) N514K possibly damaging Het
Mmp12 C T 9: 7,354,787 (GRCm39) P330L probably damaging Het
Mroh2a A G 1: 88,169,353 (GRCm39) D676G possibly damaging Het
Myo1a C T 10: 127,555,148 (GRCm39) P838L probably benign Het
Naip5 T C 13: 100,356,225 (GRCm39) H1130R possibly damaging Het
Ninl C A 2: 150,813,044 (GRCm39) G204V probably benign Het
Or12k5 C A 2: 36,895,131 (GRCm39) R165L possibly damaging Het
Or2a54 T C 6: 43,092,880 (GRCm39) V68A probably benign Het
Or4k51 T C 2: 111,585,347 (GRCm39) F251S probably damaging Het
Or5ac20 G A 16: 59,104,228 (GRCm39) L211F probably benign Het
Or5an11 T A 19: 12,245,750 (GRCm39) L52* probably null Het
Or8c15 T C 9: 38,120,777 (GRCm39) C141R probably damaging Het
Phactr4 G A 4: 132,104,559 (GRCm39) T256I probably benign Het
Pip4p2 A T 4: 14,892,477 (GRCm39) I114L possibly damaging Het
Ptpn22 G T 3: 103,781,563 (GRCm39) W114L probably damaging Het
Rasa1 C T 13: 85,400,540 (GRCm39) probably null Het
Rbks C T 5: 31,817,341 (GRCm39) V143I probably benign Het
Rbm19 T C 5: 120,269,241 (GRCm39) F515L probably damaging Het
Ror1 A G 4: 100,298,180 (GRCm39) T518A probably benign Het
Rpusd4 C A 9: 35,184,065 (GRCm39) A240E probably damaging Het
Rufy3 T C 5: 88,780,374 (GRCm39) L374P probably damaging Het
Sf3a3 T C 4: 124,618,935 (GRCm39) S299P probably damaging Het
Slc7a12 T G 3: 14,562,414 (GRCm39) S264A possibly damaging Het
Tasor T A 14: 27,186,217 (GRCm39) C805* probably null Het
Tm9sf1 T C 14: 55,873,782 (GRCm39) Y572C probably damaging Het
Tpcn2 G A 7: 144,813,871 (GRCm39) S475L probably benign Het
Trim17 A G 11: 58,856,018 (GRCm39) D25G probably damaging Het
Ttn T A 2: 76,572,121 (GRCm39) K26257N probably damaging Het
Txndc11 C A 16: 10,952,414 (GRCm39) probably benign Het
Utrn A G 10: 12,559,039 (GRCm39) S1405P probably damaging Het
Vmn2r58 G A 7: 41,486,864 (GRCm39) T677I 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
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
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
Predicted Primers PCR Primer
(F):5'- GAGCTTCAGAAGGGGCCATTCATAG -3'
(R):5'- GCAGCTCTCCAGAAGCCTTTCAAC -3'

Sequencing Primer
(F):5'- AAGGGGCCATTCATAGATGAC -3'
(R):5'- GGTTGTACCAGGGACTTACACATC -3'
Posted On 2014-03-14