Incidental Mutation 'IGL02550:Gsn'
ID 298060
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 # IGL02550
Quality Score
Status
Chromosome 2
Chromosomal Location 35146392-35197904 bp(+) (GRCm39)
Type of Mutation intron
DNA Base Change (assembly) T to C at 35172619 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: 65 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl A G 1: 66,884,325 (GRCm39) probably null Het
Acer3 G A 7: 97,873,185 (GRCm39) T171I probably benign Het
Acsm2 C T 7: 119,172,507 (GRCm39) P117S probably damaging Het
Anxa2 A G 9: 69,374,588 (GRCm39) S22G probably benign Het
Arrb2 T C 11: 70,327,696 (GRCm39) I120T probably damaging Het
Atp11a G T 8: 12,866,997 (GRCm39) K141N possibly damaging Het
Casd1 T C 6: 4,642,009 (GRCm39) V762A probably benign Het
Ccdc61 A T 7: 18,627,227 (GRCm39) S48T probably benign Het
Cntn2 T C 1: 132,456,801 (GRCm39) M82V probably null Het
Cobll1 A G 2: 64,938,207 (GRCm39) S359P probably damaging Het
Ctnnbl1 C A 2: 157,726,055 (GRCm39) D465E probably benign Het
Def6 A T 17: 28,447,235 (GRCm39) E622V probably benign Het
Dmgdh T C 13: 93,854,083 (GRCm39) Y678H probably damaging Het
Dock9 A T 14: 121,935,724 (GRCm39) M1K probably null Het
Esyt1 T C 10: 128,357,962 (GRCm39) K216E probably damaging Het
Fhod3 A G 18: 25,156,017 (GRCm39) D545G probably benign Het
Galnt12 A T 4: 47,104,126 (GRCm39) D128V possibly damaging Het
Gm1110 C T 9: 26,793,130 (GRCm39) V549I probably benign Het
Gm7361 A G 5: 26,466,120 (GRCm39) I161V possibly damaging Het
Gvin3 A T 7: 106,200,846 (GRCm39) noncoding transcript Het
Il16 T A 7: 83,323,704 (GRCm39) Q282L possibly damaging Het
Il3ra A G 14: 14,348,055 (GRCm38) D67G probably benign Het
Insrr T C 3: 87,711,805 (GRCm39) L515P probably damaging Het
Jhy A G 9: 40,828,466 (GRCm39) F480S probably benign Het
Klc4 C A 17: 46,947,836 (GRCm39) probably null Het
Klhl12 G T 1: 134,395,443 (GRCm39) C135F possibly damaging Het
Ly6m T G 15: 74,752,604 (GRCm39) H24P probably damaging Het
Mboat7 G T 7: 3,686,905 (GRCm39) probably null Het
Myo1f G A 17: 33,807,116 (GRCm39) D522N probably damaging Het
Myo1f A G 17: 33,799,124 (GRCm39) probably benign Het
Nbea C A 3: 55,926,835 (GRCm39) M789I probably damaging Het
Ncapd2 T C 6: 125,154,410 (GRCm39) D602G probably benign Het
Ncaph2 A T 15: 89,254,064 (GRCm39) K344* probably null Het
Nek2 A G 1: 191,554,371 (GRCm39) Y70C probably damaging Het
Or2t1 T C 14: 14,328,423 (GRCm38) L104P possibly damaging Het
Or4k35 T A 2: 111,100,349 (GRCm39) D121V probably damaging Het
Or4k37 T C 2: 111,158,845 (GRCm39) L27P probably damaging Het
Or5ak22 G A 2: 85,230,166 (GRCm39) A237V probably damaging Het
Or7e166 C A 9: 19,624,343 (GRCm39) F73L possibly damaging Het
Or8g35 T A 9: 39,381,842 (GRCm39) Y60F probably benign Het
Plcb3 T A 19: 6,937,544 (GRCm39) K625* probably null Het
Plrg1 T C 3: 82,968,430 (GRCm39) probably null Het
Ptpn12 A G 5: 21,203,137 (GRCm39) V547A probably benign Het
Ralgapb A G 2: 158,290,331 (GRCm39) D748G probably damaging Het
Rcbtb2 A G 14: 73,399,459 (GRCm39) E41G probably damaging Het
Rela G T 19: 5,691,534 (GRCm39) R236L possibly damaging Het
Rps6kc1 A G 1: 190,604,059 (GRCm39) S188P probably damaging Het
Sipa1l1 A T 12: 82,487,723 (GRCm39) K1666* probably null Het
Slco1a1 C T 6: 141,889,191 (GRCm39) M40I probably benign Het
Smarca4 C A 9: 21,597,418 (GRCm39) P1391Q probably benign Het
Stra6 A G 9: 58,057,366 (GRCm39) N392S possibly damaging Het
Syt4 A G 18: 31,577,246 (GRCm39) I36T probably damaging Het
Tgfbr2 A T 9: 115,939,197 (GRCm39) M235K probably benign Het
Tmem87a T A 2: 120,204,966 (GRCm39) probably null Het
Tmf1 T C 6: 97,135,522 (GRCm39) D918G probably benign Het
Tnfaip2 A G 12: 111,412,535 (GRCm39) Y312C probably damaging Het
Usp47 C T 7: 111,703,561 (GRCm39) R1178C probably damaging Het
Vmn2r95 T A 17: 18,671,994 (GRCm39) I577N probably damaging Het
Vps13b T C 15: 35,572,242 (GRCm39) V953A probably benign Het
Wasl A G 6: 24,633,883 (GRCm39) F127S probably damaging Het
Wdr1 C T 5: 38,698,206 (GRCm39) V192I probably damaging Het
Wnt9a C T 11: 59,221,744 (GRCm39) T214I probably damaging Het
Xpo5 A G 17: 46,540,255 (GRCm39) D693G probably benign Het
Zan A G 5: 137,385,301 (GRCm39) L5044P unknown Het
Zhx3 T C 2: 160,623,216 (GRCm39) N317S probably damaging 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
IGL02975:Gsn APN 2 35,194,666 (GRCm39) missense probably benign 0.25
IGL03061:Gsn APN 2 35,172,471 (GRCm39) intron probably benign
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 2015-04-16