Incidental Mutation 'R8369:Gcsam'
ID 646319
Institutional Source Beutler Lab
Gene Symbol Gcsam
Ensembl Gene ENSMUSG00000022659
Gene Name germinal center associated, signaling and motility
Synonyms M17, Gcet2
MMRRC Submission 067739-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.056) question?
Stock # R8369 (G1)
Quality Score 225.009
Status Not validated
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to A at 45436369 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Tryptophan to Arginine at position 51 (W51R)
Ref Sequence ENSEMBL: ENSMUSP00000123853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect possibly damaging
Transcript: ENSMUST00000023339
AA Change: W29R

PolyPhen 2 Score 0.675 (Sensitivity: 0.86; Specificity: 0.92)
Predicted Effect probably damaging
Transcript: ENSMUST00000161347
AA Change: W51R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.7%
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: 49 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932438H23Rik G A 16: 90,852,657 (GRCm39) H160Y probably benign Het
Abcc4 T G 14: 118,864,869 (GRCm39) I386L probably benign Het
Arap2 G A 5: 62,761,669 (GRCm39) R1686* probably null Het
Arfgef3 A T 10: 18,465,477 (GRCm39) I2122N probably benign Het
Arhgap44 A T 11: 64,950,680 (GRCm39) D119E probably damaging Het
Atp2b2 C T 6: 113,790,747 (GRCm39) probably null Het
Bltp1 T A 3: 37,065,752 (GRCm39) L9M Het
Brinp1 A T 4: 68,716,936 (GRCm39) L304Q possibly damaging Het
C2cd3 T C 7: 100,044,465 (GRCm39) V349A probably benign Het
Ccdc93 T C 1: 121,405,597 (GRCm39) Y347H probably damaging Het
Ccdc93 T G 1: 121,422,126 (GRCm39) I534S probably benign Het
Cyb5r4 A T 9: 86,922,486 (GRCm39) D165V probably benign Het
Cygb G A 11: 116,540,109 (GRCm39) T180I probably benign Het
Cyp4f15 T A 17: 32,916,939 (GRCm39) S285R probably benign Het
Daxx G T 17: 34,131,590 (GRCm39) C433F probably damaging Het
Dcaf6 T C 1: 165,185,043 (GRCm39) E483G probably damaging Het
Dennd1a T A 2: 37,938,766 (GRCm39) I115F probably damaging Het
Dnajc5b A G 3: 19,664,796 (GRCm39) D198G probably damaging Het
Ercc1 T A 7: 19,088,377 (GRCm39) C243* probably null Het
Ermard T C 17: 15,273,560 (GRCm39) F382L probably damaging Het
Fer1l4 C A 2: 155,861,680 (GRCm39) G1879V probably benign Het
Focad T A 4: 88,150,905 (GRCm39) H516Q unknown Het
Ikbkb A G 8: 23,181,097 (GRCm39) V122A probably benign Het
Iqgap2 A T 13: 95,798,111 (GRCm39) S1065T probably damaging Het
Kif16b G A 2: 142,553,777 (GRCm39) A1007V probably benign Het
Krt24 A T 11: 99,173,534 (GRCm39) C262* probably null Het
Lrat T C 3: 82,810,865 (GRCm39) E52G probably damaging Het
Misp3 T A 8: 84,737,627 (GRCm39) H94L unknown Het
N4bp3 A G 11: 51,535,253 (GRCm39) L312P probably damaging Het
Naxe T C 3: 87,963,994 (GRCm39) T246A probably benign Het
Pcolce2 A T 9: 95,519,847 (GRCm39) M1L probably benign Het
Slc7a6 G A 8: 106,919,796 (GRCm39) A270T probably damaging Het
Sord T A 2: 122,076,976 (GRCm39) I27K probably benign Het
Srek1ip1 A G 13: 104,970,798 (GRCm39) E83G probably benign Het
Srgap3 A C 6: 112,699,779 (GRCm39) N1090K probably benign Het
Sult2a6 A C 7: 13,987,327 (GRCm39) probably null Het
Tacc2 T A 7: 130,223,888 (GRCm39) I191N probably damaging Het
Thoc3 A G 13: 54,615,708 (GRCm39) S119P probably damaging Het
Tirap A G 9: 35,100,052 (GRCm39) S211P probably benign Het
Tle4 T C 19: 14,429,876 (GRCm39) T632A probably benign Het
Tnfaip8l2 T A 3: 95,047,486 (GRCm39) I126F probably benign Het
Txnrd1 A G 10: 82,710,480 (GRCm39) T114A probably benign Het
Vmn2r14 A G 5: 109,369,342 (GRCm39) L77P probably damaging Het
Wwc1 G A 11: 35,758,198 (GRCm39) T716I probably damaging Het
Yod1 A G 1: 130,645,360 (GRCm39) K47R probably benign Het
Zfhx2 A T 14: 55,304,201 (GRCm39) M1261K probably benign Het
Zfhx3 T C 8: 109,583,448 (GRCm39) I1105T possibly damaging Het
Zfp9 C A 6: 118,441,353 (GRCm39) K436N probably damaging Het
Zfp979 T C 4: 147,697,548 (GRCm39) H387R possibly 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
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
R9741:Gcsam UTSW 16 45,436,319 (GRCm39) missense possibly damaging 0.92
Predicted Primers PCR Primer
(F):5'- GGGAGAAGTCACCTTTAATAAAGC -3'
(R):5'- GATTCTTACCACACACCAGGGG -3'

Sequencing Primer
(F):5'- TCTACAGAGTGAGTTCCAGGAC -3'
(R):5'- ACCAGGGGCTGTTTCCTTGAC -3'
Posted On 2020-09-02