Incidental Mutation 'R7918:Gcsam'
ID 648204
Institutional Source Beutler Lab
Gene Symbol Gcsam
Ensembl Gene ENSMUSG00000022659
Gene Name germinal center associated, signaling and motility
Synonyms M17, Gcet2
MMRRC Submission 045966-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R7918 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation makesense
DNA Base Change (assembly) T to C at 45440502 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Stop codon to Arginine at position 182 (*182R)
Ref Sequence ENSEMBL: ENSMUSP00000123853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect probably null
Transcript: ENSMUST00000023339
AA Change: *160R
Predicted Effect probably null
Transcript: ENSMUST00000161347
AA Change: *182R
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
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
A330070K13Rik G A 5: 130,413,269 (GRCm39) T30I unknown Het
Adam21 A G 12: 81,607,378 (GRCm39) V128A possibly damaging Het
Adam26a T C 8: 44,022,566 (GRCm39) Y308C probably damaging Het
Adam26b A G 8: 43,974,138 (GRCm39) V288A probably benign Het
Ankrd29 A C 18: 12,428,979 (GRCm39) L30R probably damaging Het
Bank1 A G 3: 135,799,123 (GRCm39) I406T probably damaging Het
Cacna1g A G 11: 94,334,856 (GRCm39) I817T probably benign Het
Catsperd T C 17: 56,938,564 (GRCm39) F31L probably benign Het
Cep164 A G 9: 45,690,986 (GRCm39) probably null Het
Clca4b T C 3: 144,619,033 (GRCm39) Y702C probably damaging Het
Clstn1 A G 4: 149,728,508 (GRCm39) I655V probably damaging Het
Dock1 A G 7: 134,747,147 (GRCm39) E1486G probably damaging Het
Epha8 A G 4: 136,661,877 (GRCm39) F573L probably benign Het
Exoc1 A G 5: 76,691,840 (GRCm39) N323S probably benign Het
Exoc6b C T 6: 85,046,332 (GRCm39) R19Q probably damaging Het
Ighv9-2 T C 12: 114,072,911 (GRCm39) I21V probably benign Het
Ints2 G A 11: 86,113,043 (GRCm39) T825M probably damaging Het
Kti12 A C 4: 108,705,443 (GRCm39) E119A probably benign Het
Kti12 G T 4: 108,705,444 (GRCm39) E119D probably benign Het
Lad1 A G 1: 135,757,454 (GRCm39) T398A probably benign Het
Lrfn2 T C 17: 49,378,212 (GRCm39) V431A probably damaging Het
Mast2 T C 4: 116,292,732 (GRCm39) I79M possibly damaging Het
Nup107 A G 10: 117,617,905 (GRCm39) V171A probably benign Het
Or1e1c T C 11: 73,265,923 (GRCm39) F119S probably damaging Het
Or8b101 T A 9: 38,020,103 (GRCm39) Y35* probably null Het
Or8g37 C A 9: 39,731,406 (GRCm39) T157K probably damaging Het
Pde4dip T A 3: 97,622,539 (GRCm39) K1557* probably null Het
Plat C T 8: 23,263,655 (GRCm39) P185S probably damaging Het
Plcg1 T G 2: 160,595,585 (GRCm39) V511G probably damaging Het
Plxnb3 C T X: 72,811,251 (GRCm39) A1258V probably benign Het
Rnf223 T C 4: 156,217,240 (GRCm39) V205A probably benign Het
Slc13a1 G C 6: 24,118,065 (GRCm39) T224R probably benign Het
Slc39a10 T A 1: 46,874,912 (GRCm39) H130L possibly damaging Het
Sucnr1 T A 3: 59,993,790 (GRCm39) I106N probably damaging Het
Syde2 T C 3: 145,708,170 (GRCm39) probably null Het
Syne1 T C 10: 5,309,078 (GRCm39) I644V possibly damaging Het
Tbc1d8 A C 1: 39,441,809 (GRCm39) F261C probably damaging Het
Tmem132e A G 11: 82,336,116 (GRCm39) Y1066C probably damaging Het
Trip12 A C 1: 84,722,784 (GRCm39) I1322S probably damaging Het
Tsnaxip1 A G 8: 106,571,167 (GRCm39) I676V probably benign Het
Vmn1r231 A T 17: 21,110,236 (GRCm39) Y226* probably null Het
Vmn2r63 G C 7: 42,552,955 (GRCm39) A767G probably damaging Het
Wdr5b A G 16: 35,862,192 (GRCm39) T104A probably damaging Het
Zbed5 T C 5: 129,930,504 (GRCm39) V151A possibly damaging Het
Zc3h7b T C 15: 81,653,189 (GRCm39) F31S probably damaging Het
Zfp874b A T 13: 67,622,279 (GRCm39) C340S possibly damaging Het
Zmym4 T A 4: 126,804,797 (GRCm39) probably null 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
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
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'- TCTTCAAGAGGAACAGAGACTG -3'
(R):5'- CAGAAACAAAGGTGGTCACTCC -3'

Sequencing Primer
(F):5'- ACAGAGACTGAGTATTCGGTTCTCC -3'
(R):5'- TACGAAGGGCCTCTAGAAG -3'
Posted On 2020-09-15