Incidental Mutation 'IGL03380:Fsd1'
ID420666
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsd1
Ensembl Gene ENSMUSG00000011589
Gene Namefibronectin type 3 and SPRY domain-containing protein
Synonyms
Accession Numbers

Genbank: NM_183178.2; Ensembl: ENSMUST00000011733

Is this an essential gene? Possibly non essential (E-score: 0.352) question?
Stock #IGL03380
Quality Score
Status
Chromosome17
Chromosomal Location55986511-55996881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 55995456 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Threonine at position 300 (I300T)
Ref Sequence ENSEMBL: ENSMUSP00000011733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011733] [ENSMUST00000043785]
Predicted Effect probably benign
Transcript: ENSMUST00000011733
AA Change: I300T

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: I300T

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
Abca13 A G 11: 9,298,574 N2774D probably benign Het
Aldh1a2 T G 9: 71,255,117 Y149* probably null Het
Ank2 C A 3: 126,955,870 E503D probably damaging Het
Arhgap23 A G 11: 97,452,518 D542G probably damaging Het
Atp8a1 T C 5: 67,732,186 E582G probably benign Het
C4b A T 17: 34,740,286 V438D probably benign Het
Caps2 A G 10: 112,200,696 E345G probably benign Het
Cdk19 C T 10: 40,476,912 P308L probably benign Het
Drc3 A G 11: 60,377,905 E307G probably benign Het
Dst G A 1: 34,257,800 A1041T probably damaging Het
Elp2 T C 18: 24,622,480 V428A probably benign Het
Eml5 G T 12: 98,874,647 probably benign Het
Fam120b G A 17: 15,403,134 probably benign Het
Fpr-rs6 G A 17: 20,182,983 L39F possibly damaging Het
Hsd17b6 T C 10: 127,994,338 probably null Het
Hspa1a T C 17: 34,970,277 K550R probably benign Het
Krba1 A G 6: 48,403,453 H37R possibly damaging Het
Lama2 T C 10: 27,050,265 D2117G probably damaging Het
Map4k2 T C 19: 6,344,590 F332S possibly damaging Het
Mindy1 T C 3: 95,291,018 probably benign Het
Nhsl1 T G 10: 18,523,879 Y284* probably null Het
Olfr1463 T A 19: 13,235,001 F250L probably benign Het
Pkhd1 T A 1: 20,200,670 T3220S probably damaging Het
Pramel7 A T 2: 87,491,372 D106E probably benign Het
Psme3 T C 11: 101,320,026 probably null Het
Rsph1 T C 17: 31,277,236 E7G unknown Het
Slc13a2 T C 11: 78,399,082 T469A probably benign Het
Slc30a9 C T 5: 67,315,711 T46I probably benign Het
Slc37a4 T G 9: 44,400,023 S204A probably benign Het
Slc8b1 T C 5: 120,519,735 F88L probably damaging Het
Smpd3 C T 8: 106,259,659 V504I probably benign Het
Tbx4 A G 11: 85,914,639 N418S probably benign Het
Tmem132c A G 5: 127,536,442 T470A probably benign Het
Tmem207 A T 16: 26,526,657 C20S probably damaging Het
Usp43 G A 11: 67,875,316 A761V possibly damaging Het
Vmn1r191 C T 13: 22,178,885 S233N probably damaging Het
Vmn2r58 T A 7: 41,864,450 E256D probably benign Het
Zc3hav1 T C 6: 38,336,558 Y184C probably damaging Het
Other mutations in Fsd1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00436:Fsd1 APN 17 55993943 critical splice donor site probably null
IGL01023:Fsd1 APN 17 55988245 missense probably damaging 1.00
IGL01382:Fsd1 APN 17 55996733 missense probably damaging 1.00
IGL01383:Fsd1 APN 17 55996733 missense probably damaging 1.00
IGL01384:Fsd1 APN 17 55996733 missense probably damaging 1.00
IGL01386:Fsd1 APN 17 55996733 missense probably damaging 1.00
IGL01387:Fsd1 APN 17 55996733 missense probably damaging 1.00
IGL01561:Fsd1 APN 17 55995363 missense probably benign
IGL02065:Fsd1 APN 17 55996499 missense probably damaging 1.00
IGL02172:Fsd1 APN 17 55990244 splice site probably benign
IGL02515:Fsd1 APN 17 55996303 missense probably null 1.00
IGL02674:Fsd1 APN 17 55996483 missense probably benign 0.04
IGL03135:Fsd1 APN 17 55990416 splice site probably null
emboldened UTSW 17 55990542 critical splice donor site probably null
1mM(1):Fsd1 UTSW 17 55988199 missense probably benign 0.26
R0201:Fsd1 UTSW 17 55990522 missense probably benign 0.00
R0521:Fsd1 UTSW 17 55991245 missense probably benign
R0718:Fsd1 UTSW 17 55996445 unclassified probably null
R1077:Fsd1 UTSW 17 55990542 critical splice donor site probably null
R1519:Fsd1 UTSW 17 55993870 missense probably benign 0.14
R1696:Fsd1 UTSW 17 55988257 critical splice donor site probably null
R1867:Fsd1 UTSW 17 55991254 missense probably benign 0.00
R2173:Fsd1 UTSW 17 55991223 missense possibly damaging 0.64
R3889:Fsd1 UTSW 17 55993893 missense probably benign 0.27
R3950:Fsd1 UTSW 17 55995517 critical splice donor site probably null
R4787:Fsd1 UTSW 17 55996257 missense possibly damaging 0.51
R4912:Fsd1 UTSW 17 55991241 missense possibly damaging 0.71
R4936:Fsd1 UTSW 17 55996452 missense possibly damaging 0.63
R5718:Fsd1 UTSW 17 55990542 critical splice donor site probably benign
R5749:Fsd1 UTSW 17 55995849 splice site probably null
R7077:Fsd1 UTSW 17 55993876 missense not run
R7078:Fsd1 UTSW 17 55993876 missense not run
R7091:Fsd1 UTSW 17 55993876 missense not run
R7092:Fsd1 UTSW 17 55993876 missense not run
R7137:Fsd1 UTSW 17 55993876 missense not run
X0022:Fsd1 UTSW 17 55995464 nonsense probably null
Z1088:Fsd1 UTSW 17 55991203 missense probably damaging 0.98
Posted On2016-08-02