Incidental Mutation 'IGL03135:Fsd1'
ID 410507
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 # IGL03135
Quality Score
Status
Chromosome 17
Chromosomal Location 56293509-56303881 bp(+) (GRCm39)
Type of Mutation splice site
DNA Base Change (assembly) C to A at 56297416 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000011733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011733]
AlphaFold Q7TPM6
Predicted Effect probably null
Transcript: ENSMUST00000011733
SMART Domains Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589

DomainStartEndE-ValueType
BBC 4 130 7.61e-9 SMART
FN3 165 255 2.96e-4 SMART
Pfam:SPRY 355 473 6.3e-12 PFAM
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: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Apmap A C 2: 150,429,035 (GRCm39) M196R possibly damaging Het
Arhgap27 T A 11: 103,229,891 (GRCm39) probably null Het
Arl8b A C 6: 108,795,506 (GRCm39) N148T probably benign Het
Baz1a A G 12: 54,976,375 (GRCm39) F434L probably damaging Het
Birc2 A G 9: 7,849,722 (GRCm39) probably benign Het
Brwd1 C A 16: 95,822,458 (GRCm39) R1249I probably damaging Het
Cab39l T C 14: 59,757,100 (GRCm39) F161L probably benign Het
Ccr8 A T 9: 119,923,689 (GRCm39) D268V possibly damaging Het
Col25a1 A T 3: 130,323,332 (GRCm39) probably benign Het
Cpn1 A G 19: 43,974,693 (GRCm39) L12P possibly damaging Het
Dnah6 A G 6: 73,121,987 (GRCm39) I1360T probably benign Het
Dnajb8 A G 6: 88,200,013 (GRCm39) E183G probably damaging Het
Dpp8 T A 9: 64,960,322 (GRCm39) probably null Het
Grina T A 15: 76,132,162 (GRCm39) F28I possibly damaging Het
H2-M3 G A 17: 37,583,324 (GRCm39) D262N possibly damaging Het
Hdgfl3 G A 7: 81,543,587 (GRCm39) T188M probably damaging Het
Kif18b A G 11: 102,805,086 (GRCm39) I353T probably damaging Het
Lrrc41 C A 4: 115,945,728 (GRCm39) R148S probably benign Het
Lrrc8e T A 8: 4,285,776 (GRCm39) L667Q probably damaging Het
Lrrk1 A G 7: 65,912,638 (GRCm39) F1641L probably benign Het
Naaladl1 A T 19: 6,162,386 (GRCm39) T443S probably benign Het
Naga C A 15: 82,214,942 (GRCm39) V339F probably damaging Het
Nedd4l A G 18: 65,338,741 (GRCm39) K702E probably damaging Het
Nwd2 T A 5: 63,963,338 (GRCm39) L974H probably damaging Het
Parp14 A G 16: 35,678,381 (GRCm39) M529T probably damaging Het
Parp8 A G 13: 117,047,478 (GRCm39) V198A probably benign Het
Pcdhb19 A T 18: 37,631,588 (GRCm39) H461L probably benign Het
Ppp6r1 T C 7: 4,645,159 (GRCm39) D236G possibly damaging Het
Psg21 T C 7: 18,388,843 (GRCm39) D83G probably benign Het
Ptpru A G 4: 131,546,111 (GRCm39) C308R probably damaging Het
Ralgds T A 2: 28,439,100 (GRCm39) S696T probably damaging Het
Rttn T A 18: 89,033,274 (GRCm39) L695Q probably damaging Het
Scel A T 14: 103,823,950 (GRCm39) I393F probably benign Het
Serpina3j T A 12: 104,281,166 (GRCm39) I113N probably damaging Het
Slc4a3 C A 1: 75,524,579 (GRCm39) probably benign Het
Slc6a11 A T 6: 114,171,570 (GRCm39) probably null Het
Slc8a3 C T 12: 81,249,023 (GRCm39) V802M probably damaging Het
Smarcal1 T A 1: 72,655,660 (GRCm39) probably null Het
Tmprss11c A G 5: 86,385,509 (GRCm39) V308A probably damaging Het
Trim10 A G 17: 37,185,113 (GRCm39) R279G possibly damaging Het
Trim30a A G 7: 104,060,348 (GRCm39) V476A probably damaging Het
Trio T C 15: 27,832,097 (GRCm39) probably benign Het
Urgcp G A 11: 5,666,091 (GRCm39) T749I possibly damaging Het
Vmn2r60 A G 7: 41,786,018 (GRCm39) I274V probably benign Het
Vps11 A G 9: 44,267,653 (GRCm39) F40L probably benign Het
Ywhab A G 2: 163,857,195 (GRCm39) I157V probably benign Het
Zfp638 G A 6: 83,919,857 (GRCm39) R485H probably damaging Het
Zfp944 A G 17: 22,558,737 (GRCm39) I170T 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
IGL01384: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
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 2016-08-02