Incidental Mutation 'IGL01384:Fsd1'
ID 278329
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsd1
Ensembl Gene ENSMUSG00000011589
Gene Name fibronectin type 3 and SPRY domain-containing protein
Synonyms
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # IGL01384
Quality Score
Status
Chromosome 17
Chromosomal Location 56293509-56303881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 56303733 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Phenylalanine at position 491 (S491F)
Ref Sequence ENSEMBL: ENSMUSP00000011733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011733] [ENSMUST00000043785]
AlphaFold Q7TPM6
Predicted Effect probably damaging
Transcript: ENSMUST00000011733
AA Change: S491F

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: S491F

DomainStartEndE-ValueType
BBC 4 130 7.61e-9 SMART
FN3 165 255 2.96e-4 SMART
Pfam:SPRY 355 473 6.3e-12 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000043785
SMART Domains Protein: ENSMUSP00000038130
Gene: ENSMUSG00000038781

DomainStartEndE-ValueType
PH 20 120 1.22e-3 SMART
SH2 150 239 2.58e-3 SMART
low complexity region 278 297 N/A INTRINSIC
low complexity region 302 312 N/A INTRINSIC
low complexity region 343 365 N/A INTRINSIC
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 centrosome associated protein that is characterized by an N-terminal coiled-coil region downstream of B-box (BBC) domain, a central fibronectin type III domain, and a C-terminal repeats in splA and RyR (SPRY) domain. The encoded protein associates with a subset of microtubules and may be involved in the stability and organization of microtubules during cytokinesis. [provided by RefSeq, Apr 2009]
Allele List at MGI

All alleles(3) : Targeted, other(2) Gene trapped(1)

Other mutations in this stock
Total: 38 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4932414N04Rik A G 2: 68,575,749 (GRCm39) R683G possibly damaging Het
Abca9 A G 11: 110,036,463 (GRCm39) S549P probably damaging Het
Adgrd1 T C 5: 129,174,273 (GRCm39) S17P possibly damaging Het
Ankrd36 C A 11: 5,578,348 (GRCm39) H546N probably benign Het
Aopep C T 13: 63,338,290 (GRCm39) probably benign Het
Bivm T G 1: 44,165,907 (GRCm39) I119S possibly damaging Het
Ccdc88a G T 11: 29,453,915 (GRCm39) D1693Y probably damaging Het
Clcn6 G A 4: 148,103,423 (GRCm39) R242C probably damaging Het
Clec4a2 A C 6: 123,104,947 (GRCm39) K79T probably damaging Het
Cspp1 G A 1: 10,186,905 (GRCm39) R129H probably damaging Het
Cyp2c40 A T 19: 39,801,027 (GRCm39) M47K probably benign Het
Dmxl1 A G 18: 49,990,401 (GRCm39) D280G probably benign Het
Fbxo38 A G 18: 62,655,487 (GRCm39) S400P probably damaging Het
Gen1 T C 12: 11,305,242 (GRCm39) I184M probably benign Het
Gm9949 A T 18: 62,317,089 (GRCm39) probably benign Het
Grtp1 A T 8: 13,229,629 (GRCm39) V253E probably damaging Het
Irag1 A G 7: 110,525,708 (GRCm39) V148A possibly damaging Het
Lamb1 T A 12: 31,370,930 (GRCm39) M1327K probably benign Het
Lrp2 T A 2: 69,313,846 (GRCm39) D2295V probably damaging Het
Lrp2 T C 2: 69,284,156 (GRCm39) D3874G probably null Het
Muc5b A T 7: 141,400,555 (GRCm39) I509F unknown Het
Mug1 A C 6: 121,826,433 (GRCm39) probably benign Het
Myh7 A T 14: 55,208,916 (GRCm39) L1903Q probably damaging Het
Mylk G T 16: 34,759,322 (GRCm39) A1229S probably benign Het
Myorg G T 4: 41,498,151 (GRCm39) A493E probably damaging Het
Ncam1 A T 9: 49,421,152 (GRCm39) I721N possibly damaging Het
Or8b101 T A 9: 38,020,858 (GRCm39) I287N probably damaging Het
Pla2g2c A G 4: 138,471,012 (GRCm39) K131R probably benign Het
Rpgrip1l A T 8: 92,000,268 (GRCm39) I557N probably benign Het
Sirpb1b T A 3: 15,613,789 (GRCm39) N98Y probably damaging Het
Stab1 A G 14: 30,872,365 (GRCm39) V1182A probably benign Het
Tagap1 T C 17: 7,224,282 (GRCm39) D138G probably benign Het
Tiam2 T A 17: 3,477,477 (GRCm39) F567I probably benign Het
Ush2a A T 1: 188,285,425 (GRCm39) D1987V possibly damaging Het
Vmn1r36 A T 6: 66,693,446 (GRCm39) I37N probably damaging Het
Wif1 A T 10: 120,920,855 (GRCm39) T226S possibly damaging Het
Zfp428 A G 7: 24,210,167 (GRCm39) D22G possibly damaging Het
Zfp521 A T 18: 13,976,980 (GRCm39) N1144K probably benign Het
Other mutations in Fsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Fsd1 APN 17 56,300,943 (GRCm39) critical splice donor site probably null
IGL01023:Fsd1 APN 17 56,295,245 (GRCm39) missense probably damaging 1.00
IGL01382:Fsd1 APN 17 56,303,733 (GRCm39) missense probably damaging 1.00
IGL01383:Fsd1 APN 17 56,303,733 (GRCm39) missense probably damaging 1.00
IGL01386:Fsd1 APN 17 56,303,733 (GRCm39) missense probably damaging 1.00
IGL01387:Fsd1 APN 17 56,303,733 (GRCm39) missense probably damaging 1.00
IGL01561:Fsd1 APN 17 56,302,363 (GRCm39) missense probably benign
IGL02065:Fsd1 APN 17 56,303,499 (GRCm39) missense probably damaging 1.00
IGL02172:Fsd1 APN 17 56,297,244 (GRCm39) splice site probably benign
IGL02515:Fsd1 APN 17 56,303,303 (GRCm39) missense probably null 1.00
IGL02674:Fsd1 APN 17 56,303,483 (GRCm39) missense probably benign 0.04
IGL03135:Fsd1 APN 17 56,297,416 (GRCm39) splice site probably null
IGL03380:Fsd1 APN 17 56,302,456 (GRCm39) missense probably benign 0.00
Emboldened UTSW 17 56,297,542 (GRCm39) critical splice donor site probably null
1mM(1):Fsd1 UTSW 17 56,295,199 (GRCm39) missense probably benign 0.26
R0201:Fsd1 UTSW 17 56,297,522 (GRCm39) missense probably benign 0.00
R0521:Fsd1 UTSW 17 56,298,245 (GRCm39) missense probably benign
R0718:Fsd1 UTSW 17 56,303,445 (GRCm39) splice site probably null
R1077:Fsd1 UTSW 17 56,297,542 (GRCm39) critical splice donor site probably null
R1519:Fsd1 UTSW 17 56,300,870 (GRCm39) missense probably benign 0.14
R1696:Fsd1 UTSW 17 56,295,257 (GRCm39) critical splice donor site probably null
R1867:Fsd1 UTSW 17 56,298,254 (GRCm39) missense probably benign 0.00
R2173:Fsd1 UTSW 17 56,298,223 (GRCm39) missense possibly damaging 0.64
R3889:Fsd1 UTSW 17 56,300,893 (GRCm39) missense probably benign 0.27
R3950:Fsd1 UTSW 17 56,302,517 (GRCm39) critical splice donor site probably null
R4787:Fsd1 UTSW 17 56,303,257 (GRCm39) missense possibly damaging 0.51
R4912:Fsd1 UTSW 17 56,298,241 (GRCm39) missense possibly damaging 0.71
R4936:Fsd1 UTSW 17 56,303,452 (GRCm39) missense possibly damaging 0.63
R5718:Fsd1 UTSW 17 56,297,542 (GRCm39) critical splice donor site probably benign
R5749:Fsd1 UTSW 17 56,302,849 (GRCm39) splice site probably null
R7077:Fsd1 UTSW 17 56,300,876 (GRCm39) missense probably damaging 1.00
R7078:Fsd1 UTSW 17 56,300,876 (GRCm39) missense probably damaging 1.00
R7091:Fsd1 UTSW 17 56,300,876 (GRCm39) missense probably damaging 1.00
R7092:Fsd1 UTSW 17 56,300,876 (GRCm39) missense probably damaging 1.00
R7137:Fsd1 UTSW 17 56,300,876 (GRCm39) missense probably damaging 1.00
R7173:Fsd1 UTSW 17 56,303,696 (GRCm39) missense possibly damaging 0.47
R7174:Fsd1 UTSW 17 56,298,356 (GRCm39) missense probably benign 0.01
R7474:Fsd1 UTSW 17 56,295,149 (GRCm39) missense possibly damaging 0.93
R7727:Fsd1 UTSW 17 56,295,150 (GRCm39) missense probably benign 0.00
R8113:Fsd1 UTSW 17 56,302,881 (GRCm39) missense probably benign
R9477:Fsd1 UTSW 17 56,295,720 (GRCm39) missense possibly damaging 0.63
X0022:Fsd1 UTSW 17 56,302,464 (GRCm39) nonsense probably null
Z1088:Fsd1 UTSW 17 56,298,203 (GRCm39) missense probably damaging 0.98
Z1177:Fsd1 UTSW 17 56,303,083 (GRCm39) missense probably benign 0.17
Z1187:Fsd1 UTSW 17 56,300,920 (GRCm39) missense probably benign 0.09
Posted On 2015-04-16