Incidental Mutation 'IGL01387:Fsd1'
ID278331
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: 0.459) question?
Stock #IGL01387
Quality Score
Status
Chromosome17
Chromosomal Location55986511-55996881 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 55996733 bp
ZygosityHeterozygous
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]
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: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca7 T C 10: 79,999,762 I288T possibly damaging Het
Akr1c13 T A 13: 4,197,795 probably null Het
Ano2 T C 6: 126,013,277 L787P probably damaging Het
Arf4 A T 14: 26,653,145 I73F possibly damaging Het
Atp6v1e1 A G 6: 120,795,771 probably null Het
Ccdc9 A C 7: 16,284,499 M1R probably null Het
Cep162 A G 9: 87,211,811 L838S probably benign Het
Cfi T A 3: 129,874,913 probably benign Het
Creb3l3 T C 10: 81,091,276 T107A probably benign Het
Erlin2 T C 8: 27,036,548 L312P probably benign Het
Etv1 T G 12: 38,861,327 M384R probably damaging Het
Exph5 G T 9: 53,373,965 S782I possibly damaging Het
Fsip2 A G 2: 82,992,982 N6353S possibly damaging Het
Gk5 T C 9: 96,177,554 probably null Het
Gm11168 T G 9: 3,005,128 S202R possibly damaging Het
Hdlbp T C 1: 93,413,588 D1016G possibly damaging Het
Kpna4 A G 3: 69,102,257 probably benign Het
Lrrn2 T C 1: 132,938,358 V387A possibly damaging Het
Olfr1084 T C 2: 86,639,250 T153A probably benign Het
Olfr1249 T A 2: 89,630,620 R93* probably null Het
Olfr1350 A G 7: 6,570,855 Y288C probably damaging Het
Olfr820 T A 10: 130,017,841 M160K probably damaging Het
Olfr937 A G 9: 39,060,321 L115S probably damaging Het
Plekhs1 A G 19: 56,470,971 Q51R probably benign Het
Rab27b T A 18: 69,985,309 D179V possibly damaging Het
Rprd2 C T 3: 95,765,319 R924H probably benign Het
Shprh T C 10: 11,170,254 I905T probably damaging Het
Trpm8 T C 1: 88,343,287 L433P probably damaging Het
Urb1 A G 16: 90,757,761 L1861S possibly damaging Het
Vmn2r124 C A 17: 18,062,926 T294K probably damaging Het
Wdr66 T A 5: 123,283,546 I654N probably damaging Het
Znrf3 A T 11: 5,338,656 C37* probably null 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
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
IGL03380:Fsd1 APN 17 55995456 missense probably benign 0.00
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 probably damaging 1.00
R7078:Fsd1 UTSW 17 55993876 missense probably damaging 1.00
R7091:Fsd1 UTSW 17 55993876 missense probably damaging 1.00
R7092:Fsd1 UTSW 17 55993876 missense probably damaging 1.00
R7137:Fsd1 UTSW 17 55993876 missense probably damaging 1.00
R7173:Fsd1 UTSW 17 55996696 missense possibly damaging 0.47
R7174:Fsd1 UTSW 17 55991356 missense probably benign 0.01
R7474:Fsd1 UTSW 17 55988149 missense possibly damaging 0.93
R7727:Fsd1 UTSW 17 55988150 missense probably benign 0.00
X0022:Fsd1 UTSW 17 55995464 nonsense probably null
Z1088:Fsd1 UTSW 17 55991203 missense probably damaging 0.98
Z1177:Fsd1 UTSW 17 55996083 missense probably benign 0.17
Posted On2015-04-16