Incidental Mutation 'R9472:Gsn'
ID 715505
Institutional Source Beutler Lab
Gene Symbol Gsn
Ensembl Gene ENSMUSG00000026879
Gene Name gelsolin
Synonyms
MMRRC Submission
Accession Numbers
Essential gene? Possibly essential (E-score: 0.558) question?
Stock # R9472 (G1)
Quality Score 225.009
Status Not validated
Chromosome 2
Chromosomal Location 35146392-35197904 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to G at 35182741 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Methionine to Arginine at position 268 (M268R)
Ref Sequence ENSEMBL: ENSMUSP00000028239 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000028239] [ENSMUST00000139867] [ENSMUST00000142324] [ENSMUST00000201185] [ENSMUST00000202899] [ENSMUST00000202990]
AlphaFold P13020
PDB Structure Gelsolin Domains 4-6 in Active, Actin Free Conformation Identifies Sites of Regulatory Calcium Ions [X-RAY DIFFRACTION]
Crystal structure of Plasmodium falciparum actin I [X-RAY DIFFRACTION]
Crystal structure of Plasmodium berghei actin I with D-loop from muscle actin [X-RAY DIFFRACTION]
Crystal structure of Plasmodium berghei actin II [X-RAY DIFFRACTION]
Predicted Effect probably damaging
Transcript: ENSMUST00000028239
AA Change: M268R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000028239
Gene: ENSMUSG00000026879
AA Change: M268R

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

DomainStartEndE-ValueType
GEL 26 124 4.9e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000142324
AA Change: M219R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000118120
Gene: ENSMUSG00000026879
AA Change: M219R

DomainStartEndE-ValueType
GEL 15 113 7.31e-30 SMART
GEL 134 226 1.53e-32 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000201185
AA Change: M219R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144561
Gene: ENSMUSG00000026879
AA Change: M219R

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 probably damaging
Transcript: ENSMUST00000202899
AA Change: M219R

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000144470
Gene: ENSMUSG00000026879
AA Change: M219R

DomainStartEndE-ValueType
GEL 15 113 4.9e-32 SMART
GEL 134 226 9.6e-35 SMART
Predicted Effect probably damaging
Transcript: ENSMUST00000202990
AA Change: M230R

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000144296
Gene: ENSMUSG00000026879
AA Change: M230R

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
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.6%
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adam18 T G 8: 25,127,248 (GRCm39) K449N probably benign Het
Adam39 G A 8: 41,279,351 (GRCm39) V581I possibly damaging Het
Agrn A G 4: 156,254,841 (GRCm39) F1625S Het
Aox3 G T 1: 58,215,669 (GRCm39) V1034L possibly damaging Het
Baz2a T G 10: 127,948,624 (GRCm39) S302A probably benign Het
Capn9 T C 8: 125,325,534 (GRCm39) probably null Het
Ccdc153 A T 9: 44,154,923 (GRCm39) Q104L possibly damaging Het
Cdh1 A T 8: 107,380,248 (GRCm39) N168I probably damaging Het
Crisp3 A T 17: 40,539,676 (GRCm39) probably null Het
Ctsb T C 14: 63,379,186 (GRCm39) V266A probably damaging Het
Cyp2c39 G T 19: 39,502,043 (GRCm39) R144L probably damaging Het
Elmo1 C T 13: 20,470,897 (GRCm39) A263V probably benign Het
Enkur T C 2: 21,201,590 (GRCm39) R32G possibly damaging Het
Fsip2 T A 2: 82,817,285 (GRCm39) N4339K possibly damaging Het
Herc2 T A 7: 55,813,843 (GRCm39) W2659R probably damaging Het
Hycc2 A G 1: 58,574,641 (GRCm39) V300A possibly damaging Het
Ino80e A G 7: 126,461,127 (GRCm39) V40A unknown Het
Ints2 T C 11: 86,133,824 (GRCm39) T409A Het
Itpr3 G A 17: 27,337,651 (GRCm39) probably benign Het
Kat2a A G 11: 100,596,197 (GRCm39) V787A probably benign Het
Klhl32 A G 4: 24,629,273 (GRCm39) V465A probably benign Het
Kmt2a C A 9: 44,733,453 (GRCm39) R2288L unknown Het
Megf6 G A 4: 154,333,910 (GRCm39) G213S probably damaging Het
Mt2 T A 8: 94,899,999 (GRCm39) C44S probably damaging Het
Nfe2l1 A G 11: 96,710,159 (GRCm39) V690A probably damaging Het
Obscn T C 11: 58,894,495 (GRCm39) H6670R Het
Or4c111 A C 2: 88,843,517 (GRCm39) I297S possibly damaging Het
Orc4 T C 2: 48,795,563 (GRCm39) T388A probably benign Het
Pcdhb17 C A 18: 37,618,919 (GRCm39) N236K probably damaging Het
Phlpp1 T C 1: 106,308,079 (GRCm39) S1119P probably damaging Het
Plppr3 T C 10: 79,702,711 (GRCm39) D184G probably damaging Het
Rassf6 A T 5: 90,765,572 (GRCm39) Y46* probably null Het
Rmdn2 T A 17: 79,989,096 (GRCm39) I405N possibly damaging Het
Rsbn1l A C 5: 21,113,119 (GRCm39) S468A probably damaging Het
Rslcan18 T C 13: 67,260,296 (GRCm39) K34E probably benign Het
Runx3 A G 4: 134,898,441 (GRCm39) D204G probably damaging Het
Sbf2 A G 7: 109,970,798 (GRCm39) I866T possibly damaging Het
Sgtb A C 13: 104,247,681 (GRCm39) E28D probably benign Het
Slc38a8 T A 8: 120,227,888 (GRCm39) K14M probably damaging Het
Spast T C 17: 74,681,143 (GRCm39) V478A probably damaging Het
Stxbp5 T C 10: 9,719,101 (GRCm39) T147A probably damaging Het
Tmem208 T C 8: 106,055,027 (GRCm39) F79S probably damaging Het
Tmprss7 T C 16: 45,501,052 (GRCm39) I250V probably benign Het
Usp24 A G 4: 106,261,128 (GRCm39) T1628A probably benign Het
Vmn2r14 G T 5: 109,367,962 (GRCm39) N343K probably benign Het
Xrcc6 T A 15: 81,913,328 (GRCm39) Y320* probably null Het
Zbtb10 A C 3: 9,343,355 (GRCm39) T627P probably benign Het
Zfp532 A T 18: 65,756,624 (GRCm39) K186* probably null 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
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
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
Predicted Primers PCR Primer
(F):5'- GACTCTGACTTCCTGGGATCTC -3'
(R):5'- TCTGTTGGCAGATTCTCAAAGC -3'

Sequencing Primer
(F):5'- CTGGGATCTCTGTCTTCTTACAG -3'
(R):5'- GGCAGATTCTCAAAGCATTGTAGCC -3'
Posted On 2022-06-15