Incidental Mutation 'IGL03061:Gsn'
ID 409474
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gsn
Ensembl Gene ENSMUSG00000026879
Gene Name gelsolin
Synonyms
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # IGL03061
Quality Score
Status
Chromosome 2
Chromosomal Location 35146392-35197904 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 35172471 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000144296 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028239] [ENSMUST00000139867] [ENSMUST00000142324] [ENSMUST00000201185] [ENSMUST00000202899] [ENSMUST00000202990]
AlphaFold P13020
Predicted Effect probably benign
Transcript: ENSMUST00000028239
SMART Domains Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879

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 benign
Transcript: ENSMUST00000139867
SMART Domains Protein: ENSMUSP00000144217
Gene: ENSMUSG00000026879

DomainStartEndE-ValueType
GEL 26 124 4.9e-32 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000142324
SMART Domains Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879

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

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 benign
Transcript: ENSMUST00000202899
SMART Domains Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879

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

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: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl1 T A 8: 46,961,374 (GRCm39) N106K probably damaging Het
Ak8 T C 2: 28,632,767 (GRCm39) probably benign Het
BC016579 C T 16: 45,449,849 (GRCm39) G190S probably damaging Het
C4bp A G 1: 130,564,454 (GRCm39) V410A probably damaging Het
Cacna2d3 T C 14: 28,780,388 (GRCm39) T658A probably damaging Het
Cadps2 T C 6: 23,287,659 (GRCm39) probably null Het
Car10 G T 11: 93,381,351 (GRCm39) V105F probably damaging Het
Car15 C T 16: 17,653,249 (GRCm39) C306Y possibly damaging Het
Casr C T 16: 36,316,250 (GRCm39) A530T probably benign Het
Col5a3 A G 9: 20,708,868 (GRCm39) probably null Het
Creld1 A G 6: 113,465,058 (GRCm39) E95G probably damaging Het
Dcstamp T A 15: 39,623,793 (GRCm39) D366E possibly damaging Het
Dnah11 T C 12: 117,866,856 (GRCm39) Y4095C probably damaging Het
Eps8l2 A G 7: 140,937,148 (GRCm39) probably benign Het
Ifi27l2a T C 12: 103,401,803 (GRCm39) V30A possibly damaging Het
Ifit1bl2 C T 19: 34,597,124 (GRCm39) R164Q probably benign Het
Impg2 T C 16: 56,088,779 (GRCm39) S1102P probably damaging Het
Kif24 G T 4: 41,394,323 (GRCm39) P984Q possibly damaging Het
Krtap29-1 T A 11: 99,869,455 (GRCm39) Q142L possibly damaging Het
Lpar6 C T 14: 73,476,510 (GRCm39) T157I probably benign Het
Lrrc32 A T 7: 98,148,629 (GRCm39) T470S probably benign Het
Lyl1 C T 8: 85,429,300 (GRCm39) P3L possibly damaging Het
Mroh9 A T 1: 162,854,071 (GRCm39) H776Q probably damaging Het
Myh7 T C 14: 55,228,661 (GRCm39) probably benign Het
Myh7b A G 2: 155,462,031 (GRCm39) N309S possibly damaging Het
Myo5b A T 18: 74,767,630 (GRCm39) T313S probably benign Het
Myo5b G A 18: 74,713,615 (GRCm39) probably benign Het
Npas4 C T 19: 5,036,365 (GRCm39) V600M probably damaging Het
Nrxn3 T A 12: 89,478,698 (GRCm39) Y557* probably null Het
Or2aj4 T C 16: 19,385,463 (GRCm39) T57A possibly damaging Het
Or52k2 A G 7: 102,253,946 (GRCm39) I128M probably damaging Het
Or8g53 T A 9: 39,683,458 (GRCm39) T213S probably benign Het
Pcdh15 A G 10: 74,152,843 (GRCm39) I383V probably damaging Het
Pdzrn3 C A 6: 101,128,816 (GRCm39) D617Y probably damaging Het
Prodh2 A T 7: 30,212,258 (GRCm39) K408* probably null Het
Ptprs T C 17: 56,725,830 (GRCm39) I1052V probably damaging Het
Rpl14 T C 9: 120,401,193 (GRCm39) V12A probably damaging Het
Sf3a1 C T 11: 4,125,493 (GRCm39) R428C probably damaging Het
Sgsm2 G T 11: 74,741,962 (GRCm39) N1009K probably damaging Het
Slc28a2 A T 2: 122,284,980 (GRCm39) I323F probably damaging Het
Snx19 T A 9: 30,344,928 (GRCm39) F676I probably damaging Het
Stxbp2 A T 8: 3,691,971 (GRCm39) I538F probably benign Het
Tg A C 15: 66,543,254 (GRCm39) D56A probably damaging Het
Tln1 G T 4: 43,545,694 (GRCm39) A928E probably damaging Het
Tmem94 T C 11: 115,683,247 (GRCm39) S677P possibly damaging Het
Ttc41 C A 10: 86,572,721 (GRCm39) H698N possibly damaging Het
Vcan T C 13: 89,851,394 (GRCm39) T1189A probably benign Het
Vmn1r215 G T 13: 23,260,088 (GRCm39) V43F probably damaging Het
Vmn2r28 A T 7: 5,487,015 (GRCm39) N549K probably damaging Het
Zfp598 T C 17: 24,898,566 (GRCm39) V455A probably benign Het
Other mutations in Gsn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00797:Gsn APN 2 35,174,049 (GRCm39) missense probably damaging 1.00
IGL02119:Gsn APN 2 35,192,507 (GRCm39) missense probably damaging 1.00
IGL02512:Gsn APN 2 35,173,962 (GRCm39) nonsense probably null
IGL02550:Gsn APN 2 35,172,619 (GRCm39) intron probably benign
IGL02975:Gsn APN 2 35,194,666 (GRCm39) missense probably benign 0.25
R0321:Gsn UTSW 2 35,180,408 (GRCm39) missense probably benign 0.03
R0454:Gsn UTSW 2 35,194,651 (GRCm39) missense probably damaging 1.00
R1446:Gsn UTSW 2 35,196,598 (GRCm39) missense probably benign 0.04
R1760:Gsn UTSW 2 35,174,835 (GRCm39) missense probably damaging 1.00
R1974:Gsn UTSW 2 35,191,483 (GRCm39) missense probably damaging 1.00
R2258:Gsn UTSW 2 35,180,349 (GRCm39) missense probably damaging 1.00
R2260:Gsn UTSW 2 35,180,349 (GRCm39) missense probably damaging 1.00
R2281:Gsn UTSW 2 35,173,930 (GRCm39) missense probably benign 0.01
R2495:Gsn UTSW 2 35,193,205 (GRCm39) missense probably damaging 1.00
R2516:Gsn UTSW 2 35,173,965 (GRCm39) missense probably benign
R3896:Gsn UTSW 2 35,192,650 (GRCm39) missense possibly damaging 0.92
R4003:Gsn UTSW 2 35,173,995 (GRCm39) missense probably benign 0.38
R4006:Gsn UTSW 2 35,197,633 (GRCm39) nonsense probably null
R4281:Gsn UTSW 2 35,188,883 (GRCm39) missense probably damaging 1.00
R4291:Gsn UTSW 2 35,180,432 (GRCm39) missense probably benign 0.14
R4692:Gsn UTSW 2 35,188,883 (GRCm39) missense probably damaging 1.00
R4850:Gsn UTSW 2 35,173,912 (GRCm39) splice site probably null
R4895:Gsn UTSW 2 35,192,590 (GRCm39) missense probably damaging 1.00
R5011:Gsn UTSW 2 35,188,933 (GRCm39) missense probably damaging 1.00
R5013:Gsn UTSW 2 35,188,933 (GRCm39) missense probably damaging 1.00
R5290:Gsn UTSW 2 35,186,484 (GRCm39) missense probably benign 0.01
R6472:Gsn UTSW 2 35,180,463 (GRCm39) splice site probably null
R6764:Gsn UTSW 2 35,174,056 (GRCm39) missense probably damaging 1.00
R7018:Gsn UTSW 2 35,183,518 (GRCm39) missense probably benign 0.03
R7036:Gsn UTSW 2 35,182,611 (GRCm39) missense probably damaging 1.00
R7097:Gsn UTSW 2 35,185,061 (GRCm39) nonsense probably null
R7122:Gsn UTSW 2 35,185,061 (GRCm39) nonsense probably null
R7183:Gsn UTSW 2 35,184,960 (GRCm39) missense probably benign 0.00
R7203:Gsn UTSW 2 35,188,807 (GRCm39) missense probably benign 0.00
R7456:Gsn UTSW 2 35,172,718 (GRCm39) missense possibly damaging 0.84
R7488:Gsn UTSW 2 35,186,433 (GRCm39) missense possibly damaging 0.65
R7880:Gsn UTSW 2 35,173,939 (GRCm39) missense probably damaging 1.00
R8088:Gsn UTSW 2 35,182,659 (GRCm39) missense possibly damaging 0.77
R9472:Gsn UTSW 2 35,182,741 (GRCm39) missense probably damaging 1.00
R9479:Gsn UTSW 2 35,186,227 (GRCm39) critical splice donor site probably null
R9568:Gsn UTSW 2 35,174,003 (GRCm39) missense probably benign 0.02
R9777:Gsn UTSW 2 35,194,600 (GRCm39) missense probably damaging 1.00
Posted On 2016-08-02