Incidental Mutation 'IGL02136:Gcsam'
ID 281323
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 # IGL02136
Quality Score
Status
Chromosome 16
Chromosomal Location 45430803-45443230 bp(+) (GRCm39)
Type of Mutation start codon destroyed
DNA Base Change (assembly) T to A at 45430896 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Lysine at position 1 (M1K)
Ref Sequence ENSEMBL: ENSMUSP00000123853 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000023339] [ENSMUST00000159945] [ENSMUST00000161347]
AlphaFold Q6RFH4
Predicted Effect probably null
Transcript: ENSMUST00000023339
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000159945
SMART Domains Protein: ENSMUSP00000124969
Gene: ENSMUSG00000033210

DomainStartEndE-ValueType
Pfam:Na_H_Exchanger 40 445 2.3e-31 PFAM
low complexity region 588 602 N/A INTRINSIC
transmembrane domain 635 654 N/A INTRINSIC
transmembrane domain 669 686 N/A INTRINSIC
transmembrane domain 691 713 N/A INTRINSIC
low complexity region 734 743 N/A INTRINSIC
cNMP 890 1026 4.99e-1 SMART
low complexity region 1161 1175 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000161347
AA Change: M1K

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
Predicted Effect probably benign
Transcript: ENSMUST00000162151
Predicted Effect probably benign
Transcript: ENSMUST00000162774
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: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca12 G T 1: 71,286,301 (GRCm39) T2511K probably damaging Het
Acta2 T A 19: 34,229,230 (GRCm39) D53V probably damaging Het
Banf1 G A 19: 5,415,098 (GRCm39) A71V probably benign Het
Cacng5 A T 11: 107,772,557 (GRCm39) I97N probably benign Het
Clec14a T A 12: 58,315,415 (GRCm39) E69V probably damaging Het
Cracr2a T C 6: 127,606,893 (GRCm39) probably benign Het
Dysf A G 6: 84,085,149 (GRCm39) R845G probably benign Het
Dzip3 T C 16: 48,747,945 (GRCm39) N949S possibly damaging Het
Eprs1 T G 1: 185,117,180 (GRCm39) W408G probably damaging Het
Fgf14 G A 14: 124,217,784 (GRCm39) P240S possibly damaging Het
Fpgt G T 3: 154,798,989 (GRCm39) A2E probably benign Het
Galntl5 T A 5: 25,425,060 (GRCm39) S392R probably benign Het
Gatd1 A G 7: 140,988,873 (GRCm39) *221Q probably null Het
Ksr2 A G 5: 117,754,959 (GRCm39) N351S possibly damaging Het
Map1a T C 2: 121,130,693 (GRCm39) V503A probably damaging Het
Myl12a T A 17: 71,303,851 (GRCm39) K9* probably null Het
Ncapg2 A T 12: 116,424,203 (GRCm39) M1129L probably benign Het
Or11g2 T C 14: 50,855,708 (GRCm39) S10P possibly damaging Het
Or8k41 T C 2: 86,313,809 (GRCm39) I92M probably damaging Het
Otof T C 5: 30,531,336 (GRCm39) K1691E possibly damaging Het
Pdk4 A T 6: 5,486,715 (GRCm39) M353K probably damaging Het
Pkhd1 A T 1: 20,345,839 (GRCm39) W2730R probably damaging Het
Pkn2 T A 3: 142,559,351 (GRCm39) K58I probably damaging Het
Plk5 T C 10: 80,199,001 (GRCm39) probably null Het
Prkcq T C 2: 11,265,479 (GRCm39) F399L probably benign Het
Ptprz1 G A 6: 22,972,821 (GRCm39) V244M probably damaging Het
Rpusd2 T C 2: 118,868,659 (GRCm39) F361L probably damaging Het
Rttn T A 18: 89,064,252 (GRCm39) L1168I possibly damaging Het
S100a9 T C 3: 90,600,075 (GRCm39) H107R probably benign Het
Serpinb3a T A 1: 106,974,015 (GRCm39) M299L probably benign Het
Slfn8 G A 11: 82,894,291 (GRCm39) Q783* probably null Het
Smc3 T C 19: 53,624,147 (GRCm39) I721T probably benign Het
Top2b C A 14: 16,407,103 (GRCm38) probably benign Het
Uvssa T A 5: 33,549,192 (GRCm39) W351R probably damaging Het
Vmn2r107 G T 17: 20,595,168 (GRCm39) V574L probably benign Het
Wdr3 G A 3: 100,046,041 (GRCm39) R931* probably null Het
Other mutations in Gcsam
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01511:Gcsam APN 16 45,436,315 (GRCm39) missense probably damaging 0.99
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
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 2015-04-16