Incidental Mutation 'R3889:Fsd1'
ID 310215
Institutional Source Beutler Lab
Gene Symbol Fsd1
Ensembl Gene ENSMUSG00000011589
Gene Name fibronectin type 3 and SPRY domain-containing protein
Synonyms
MMRRC Submission 040801-MU
Accession Numbers
Essential gene? Possibly non essential (E-score: 0.317) question?
Stock # R3889 (G1)
Quality Score 225
Status Validated
Chromosome 17
Chromosomal Location 56293509-56303881 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 56300893 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Lysine to Glutamic Acid at position 251 (K251E)
Ref Sequence ENSEMBL: ENSMUSP00000011733 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000011733] [ENSMUST00000043785]
AlphaFold Q7TPM6
Predicted Effect probably benign
Transcript: ENSMUST00000011733
AA Change: K251E

PolyPhen 2 Score 0.269 (Sensitivity: 0.91; Specificity: 0.88)
SMART Domains Protein: ENSMUSP00000011733
Gene: ENSMUSG00000011589
AA Change: K251E

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
Meta Mutation Damage Score 0.1357 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 94% (51/54)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933407L21Rik T A 1: 85,868,273 (GRCm39) probably null Het
7530416G11Rik A G 15: 85,378,292 (GRCm39) F117S unknown Het
Adamts5 A G 16: 85,665,009 (GRCm39) W652R probably damaging Het
Adamtsl4 G T 3: 95,588,167 (GRCm39) Q607K probably damaging Het
Atm T C 9: 53,417,936 (GRCm39) probably benign Het
Atp6v0a2 G A 5: 124,777,203 (GRCm39) R168Q probably damaging Het
B930094E09Rik G A 18: 31,742,742 (GRCm39) S59N unknown Het
Baiap2l1 T C 5: 144,215,345 (GRCm39) T387A possibly damaging Het
Cct3 A T 3: 88,228,334 (GRCm39) Q472L probably benign Het
Chd3 C T 11: 69,250,011 (GRCm39) E623K probably damaging Het
Cps1 C A 1: 67,204,659 (GRCm39) T493K possibly damaging Het
Dclre1a A T 19: 56,533,752 (GRCm39) C263S probably benign Het
Dmxl1 T A 18: 50,011,326 (GRCm39) M1161K probably damaging Het
Eif2ak1 A T 5: 143,821,479 (GRCm39) Q265L probably benign Het
Elp1 G A 4: 56,759,852 (GRCm39) R1138C probably damaging Het
Epha3 A G 16: 63,431,327 (GRCm39) F526L probably damaging Het
Etl4 C T 2: 20,534,772 (GRCm39) Q76* probably null Het
Fat2 C A 11: 55,172,589 (GRCm39) G2708V probably damaging Het
Fgd6 G A 10: 93,925,499 (GRCm39) E853K probably damaging Het
Fn1 T C 1: 71,679,465 (GRCm39) Y511C probably damaging Het
Foxd2 T C 4: 114,765,483 (GRCm39) H179R unknown Het
Gjc3 T A 5: 137,956,105 (GRCm39) N60I possibly damaging Het
Gpc5 T C 14: 115,607,472 (GRCm39) M358T probably benign Het
H6pd T A 4: 150,080,230 (GRCm39) Y197F possibly damaging Het
Hip1r C T 5: 124,139,854 (GRCm39) R986* probably null Het
Igkv9-120 A G 6: 68,027,362 (GRCm39) D92G probably damaging Het
Il6 A G 5: 30,223,066 (GRCm39) K128E possibly damaging Het
Irf4 T C 13: 30,945,473 (GRCm39) probably benign Het
Lcor T A 19: 41,546,795 (GRCm39) S126R probably damaging Het
Ltbp2 A G 12: 84,831,681 (GRCm39) probably benign Het
Pcmt1 C T 10: 7,524,814 (GRCm39) probably null Het
Plekhm2 C T 4: 141,369,301 (GRCm39) probably benign Het
Prkca C T 11: 107,870,066 (GRCm39) G450R probably damaging Het
Psme3 C A 11: 101,210,282 (GRCm39) P82T probably damaging Het
Rgs11 T C 17: 26,426,561 (GRCm39) I262T probably damaging Het
Rreb1 G T 13: 38,077,941 (GRCm39) R51L probably damaging Het
Rsf1 GGCG GGCGACGGCTGCG 7: 97,229,113 (GRCm39) probably benign Het
Serpina1e A T 12: 103,917,132 (GRCm39) V179E probably damaging Het
Sgo2b T C 8: 64,380,777 (GRCm39) Q685R possibly damaging Het
Slc15a2 A G 16: 36,602,666 (GRCm39) F65S probably damaging Het
Slc25a45 C T 19: 5,930,661 (GRCm39) probably benign Het
Snapc4 G A 2: 26,255,510 (GRCm39) Q1005* probably null Het
Spen A G 4: 141,205,192 (GRCm39) V1145A unknown Het
Stub1 T C 17: 26,050,276 (GRCm39) probably benign Het
Taar8a A G 10: 23,952,923 (GRCm39) I176V probably benign Het
Tacr2 G A 10: 62,100,865 (GRCm39) C325Y probably damaging Het
Tbc1d17 T A 7: 44,495,362 (GRCm39) H154L probably damaging Het
Tll1 A T 8: 64,658,258 (GRCm39) C54S possibly damaging Het
Tpsb2 G A 17: 25,586,457 (GRCm39) V181I probably damaging Het
Trak1 A G 9: 121,274,939 (GRCm39) N146S probably null Het
Vmn1r177 T C 7: 23,565,289 (GRCm39) I196V possibly damaging Het
Zfp820 T C 17: 22,037,877 (GRCm39) I484V 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
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
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
Predicted Primers PCR Primer
(F):5'- AGAAGGCGAGACTTGGTGTC -3'
(R):5'- GTTCCCTAGCAGCTAGAGTG -3'

Sequencing Primer
(F):5'- ACCTGCTGCTCTTACAGAGGAC -3'
(R):5'- CTAGCAGCTAGAGTGACCAGGTC -3'
Posted On 2015-04-17