Incidental Mutation 'IGL02512:Gsn'
ID296606
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsn
Ensembl Gene ENSMUSG00000026879
Gene Namegelsolin
Synonyms
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.658) question?
Stock #IGL02512
Quality Score
Status
Chromosome2
Chromosomal Location35256380-35307892 bp(+) (GRCm38)
Type of Mutationnonsense
DNA Base Change (assembly) A to T at 35283950 bp
ZygosityHeterozygous
Amino Acid Change Lysine to Stop codon at position 24 (K24*)
Ref Sequence ENSEMBL: ENSMUSP00000144296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028239] [ENSMUST00000139867] [ENSMUST00000142324] [ENSMUST00000201185] [ENSMUST00000202899] [ENSMUST00000202990]
Predicted Effect probably null
Transcript: ENSMUST00000028239
AA Change: K62*
SMART Domains Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: K62*

DomainStartEndE-ValueType
low complexity region 6 21 N/A INTRINSIC
GEL 64 162 7.31e-30 SMART
GEL 183 275 1.53e-32 SMART
GEL 299 394 2.59e-30 SMART
GEL 443 540 9.28e-32 SMART
GEL 561 646 1.67e-24 SMART
GEL 666 761 4.04e-32 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000124323
Predicted Effect probably null
Transcript: ENSMUST00000139867
AA Change: K24*
SMART Domains Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879
AA Change: K24*

DomainStartEndE-ValueType
GEL 26 124 4.9e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000142324
AA Change: K13*
SMART Domains Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: K13*

DomainStartEndE-ValueType
GEL 15 113 7.31e-30 SMART
GEL 134 226 1.53e-32 SMART
Predicted Effect probably null
Transcript: ENSMUST00000201185
AA Change: K13*
SMART Domains Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: K13*

DomainStartEndE-ValueType
GEL 15 113 4.9e-32 SMART
GEL 134 226 9.6e-35 SMART
GEL 250 345 1.6e-32 SMART
GEL 394 491 5.8e-34 SMART
GEL 512 597 1.1e-26 SMART
GEL 617 712 2.7e-34 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000202212
Predicted Effect probably null
Transcript: ENSMUST00000202899
AA Change: K13*
SMART Domains Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: K13*

DomainStartEndE-ValueType
GEL 15 113 4.9e-32 SMART
GEL 134 226 9.6e-35 SMART
Predicted Effect probably null
Transcript: ENSMUST00000202990
AA Change: K24*
SMART Domains Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: K24*

DomainStartEndE-ValueType
GEL 26 124 4.9e-32 SMART
GEL 145 237 9.6e-35 SMART
GEL 261 356 1.6e-32 SMART
GEL 405 502 5.8e-34 SMART
Coding Region Coverage
Validation Efficiency
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene binds to the "plus" ends of actin monomers and filaments to prevent monomer exchange. The encoded calcium-regulated protein functions in both assembly and disassembly of actin filaments. Defects in this gene are a cause of familial amyloidosis Finnish type (FAF). Multiple transcript variants encoding several different isoforms have been found for this gene. [provided by RefSeq, Jul 2008]
PHENOTYPE: Mice homozygous for disruptions in this gene display abnormalities in the immune system, platelet and platelet function, bone density, nervous and circulatory system. In addition, there are background related effects on viability and mammary gland development. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Alg10b C A 15: 90,227,549 H199N probably benign Het
Ankrd13a T A 5: 114,786,766 M104K probably benign Het
Ankrd37 A G 8: 45,999,288 L48P probably damaging Het
Ankzf1 T A 1: 75,192,578 L43M probably damaging Het
Ano10 A C 9: 122,272,474 V77G possibly damaging Het
Arg2 G A 12: 79,147,743 V114I probably benign Het
Asah1 A C 8: 41,360,307 probably benign Het
Clpx A C 9: 65,310,251 I34L probably benign Het
Cnga2 G A X: 72,008,925 V469I probably damaging Het
D230025D16Rik G A 8: 105,234,478 probably benign Het
Dock9 A T 14: 121,619,538 probably benign Het
Eaf1 A G 14: 31,497,786 T61A possibly damaging Het
Exoc3l T A 8: 105,290,483 D624V probably damaging Het
Fancd2 A G 6: 113,570,943 D927G probably damaging Het
Fbn1 A T 2: 125,338,460 Y1801N probably damaging Het
Garnl3 A G 2: 33,031,138 Y292H probably damaging Het
Gpr174 A T X: 107,292,971 K130* probably null Het
Greb1 C T 12: 16,692,712 V1379I possibly damaging Het
Grik2 A T 10: 49,355,912 D507E probably benign Het
Ift80 A G 3: 68,927,725 probably null Het
Inpp5j T A 11: 3,499,661 Y707F probably damaging Het
Ints13 A T 6: 146,576,357 D31E probably damaging Het
Kcnh1 T C 1: 192,505,381 F717L possibly damaging Het
Klhdc8a T C 1: 132,303,157 probably null Het
Klkb1 G A 8: 45,276,240 probably benign Het
Krt16 A T 11: 100,246,336 probably benign Het
Msh6 T C 17: 87,984,732 V305A probably benign Het
Myo6 T A 9: 80,292,519 probably null Het
Nampt T A 12: 32,830,269 Y54N possibly damaging Het
Neurog2 G T 3: 127,633,855 E43* probably null Het
Obscn C T 11: 59,028,517 R6887H probably damaging Het
Olfr1124 A G 2: 87,435,058 I190M possibly damaging Het
Olfr209 T C 16: 59,361,808 N137D possibly damaging Het
Olfr772 A G 10: 129,174,250 I257T possibly damaging Het
Pdss1 A G 2: 22,912,646 I166V probably damaging Het
Ptpn21 T C 12: 98,679,392 T1096A probably benign Het
Reln A G 5: 22,040,427 Y728H probably benign Het
Sec31a T C 5: 100,407,193 D56G probably damaging Het
Shroom1 T A 11: 53,466,559 V683E probably damaging Het
Slc5a11 A G 7: 123,265,255 D358G probably damaging Het
Slfn3 T A 11: 83,213,025 S241T possibly damaging Het
Slitrk3 G A 3: 73,050,402 P346S probably benign Het
Specc1 T A 11: 62,118,389 S324T probably damaging Het
Sptlc3 T C 2: 139,547,203 Y168H probably damaging Het
St3gal6 C T 16: 58,473,459 E236K probably benign Het
Tet2 A T 3: 133,469,308 M1426K probably benign Het
Tinag A T 9: 77,031,787 probably benign Het
Tjp1 A G 7: 65,343,667 S53P probably damaging Het
Uimc1 T C 13: 55,040,618 T543A possibly damaging Het
Wdfy4 A G 14: 33,042,491 W2147R probably benign Het
Zmym1 C T 4: 127,048,672 C641Y probably damaging Het
Other mutations in Gsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Gsn APN 2 35284037 missense probably damaging 1.00
IGL02119:Gsn APN 2 35302495 missense probably damaging 1.00
IGL02550:Gsn APN 2 35282607 intron probably benign
IGL02975:Gsn APN 2 35304654 missense probably benign 0.25
IGL03061:Gsn APN 2 35282459 intron probably benign
R0321:Gsn UTSW 2 35290396 missense probably benign 0.03
R0454:Gsn UTSW 2 35304639 missense probably damaging 1.00
R1446:Gsn UTSW 2 35306586 missense probably benign 0.04
R1760:Gsn UTSW 2 35284823 missense probably damaging 1.00
R1974:Gsn UTSW 2 35301471 missense probably damaging 1.00
R2258:Gsn UTSW 2 35290337 missense probably damaging 1.00
R2260:Gsn UTSW 2 35290337 missense probably damaging 1.00
R2281:Gsn UTSW 2 35283918 missense probably benign 0.01
R2495:Gsn UTSW 2 35303193 missense probably damaging 1.00
R2516:Gsn UTSW 2 35283953 missense probably benign
R3896:Gsn UTSW 2 35302638 missense possibly damaging 0.92
R4003:Gsn UTSW 2 35283983 missense probably benign 0.38
R4006:Gsn UTSW 2 35307621 nonsense probably null
R4281:Gsn UTSW 2 35298871 missense probably damaging 1.00
R4291:Gsn UTSW 2 35290420 missense probably benign 0.14
R4692:Gsn UTSW 2 35298871 missense probably damaging 1.00
R4850:Gsn UTSW 2 35283900 splice site probably null
R4895:Gsn UTSW 2 35302578 missense probably damaging 1.00
R5011:Gsn UTSW 2 35298921 missense probably damaging 1.00
R5013:Gsn UTSW 2 35298921 missense probably damaging 1.00
R5290:Gsn UTSW 2 35296472 missense probably benign 0.01
R6472:Gsn UTSW 2 35290451 unclassified probably null
R6764:Gsn UTSW 2 35284044 missense probably damaging 1.00
R7018:Gsn UTSW 2 35293506 missense probably benign 0.03
R7036:Gsn UTSW 2 35292599 missense probably damaging 1.00
R7097:Gsn UTSW 2 35295049 nonsense probably null
R7122:Gsn UTSW 2 35295049 nonsense probably null
R7183:Gsn UTSW 2 35294948 missense probably benign 0.00
R7203:Gsn UTSW 2 35298795 missense probably benign 0.00
R7456:Gsn UTSW 2 35282706 missense possibly damaging 0.84
R7488:Gsn UTSW 2 35296421 missense possibly damaging 0.65
R7880:Gsn UTSW 2 35283927 missense probably damaging 1.00
R7963:Gsn UTSW 2 35283927 missense probably damaging 1.00
Posted On2015-04-16