Incidental Mutation 'IGL02629:Fsd1l'
ID301210
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsd1l
Ensembl Gene ENSMUSG00000054752
Gene Namefibronectin type III and SPRY domain containing 1-like
SynonymsA230072O16Rik, Csdufd1, Fsd1nl, Ccdc10
Accession Numbers
Is this an essential gene? Possibly essential (E-score: 0.549) question?
Stock #IGL02629
Quality Score
Status
Chromosome4
Chromosomal Location53631471-53707009 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53686417 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 277 (S277P)
Ref Sequence ENSEMBL: ENSMUSP00000124002 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132151] [ENSMUST00000159415] [ENSMUST00000163067] [ENSMUST00000180164]
Predicted Effect probably damaging
Transcript: ENSMUST00000132151
AA Change: S277P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: S277P

DomainStartEndE-ValueType
BBC 4 130 4.3e-8 SMART
FN3 165 255 2.21e-3 SMART
Pfam:SPRY 350 470 3.2e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000159415
AA Change: S277P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: S277P

DomainStartEndE-ValueType
BBC 4 130 4.3e-8 SMART
FN3 165 255 2.21e-3 SMART
Pfam:SPRY 360 480 2e-16 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000163067
AA Change: S277P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: S277P

DomainStartEndE-ValueType
BBC 4 130 4.3e-8 SMART
FN3 165 255 2.21e-3 SMART
Pfam:SPRY 349 469 3.6e-17 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000180164
AA Change: S277P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)
SMART Domains Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: S277P

DomainStartEndE-ValueType
BBC 4 130 1.4e-7 SMART
FN3 165 255 2.21e-3 SMART
Pfam:SPRY 350 470 1.2e-16 PFAM
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 50 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700017N19Rik T C 10: 100,609,144 probably benign Het
Aadacl3 A G 4: 144,463,629 I34T possibly damaging Het
Acan T A 7: 79,111,979 I1979N possibly damaging Het
Ankrd27 A G 7: 35,625,696 D701G probably benign Het
Arhgap31 C T 16: 38,609,164 G450S probably benign Het
Braf T C 6: 39,688,299 E45G possibly damaging Het
Btnl6 C T 17: 34,514,468 V178M probably damaging Het
Capg A T 6: 72,555,754 Q67L probably benign Het
Carmil3 A G 14: 55,499,068 N663S probably damaging Het
Casz1 T A 4: 148,944,391 S1098T probably benign Het
Cd55b A T 1: 130,419,798 probably benign Het
Cdc45 C T 16: 18,798,729 M200I probably benign Het
Cenpf A G 1: 189,652,334 L2583P probably damaging Het
Clec4a1 A C 6: 122,932,147 probably null Het
Corin T C 5: 72,332,673 N653S probably damaging Het
Dhx36 T C 3: 62,506,734 E69G probably benign Het
Dpy19l1 C A 9: 24,438,713 probably benign Het
Fam184a T C 10: 53,698,811 N234S possibly damaging Het
Foxg1 A G 12: 49,385,548 S355G probably benign Het
Hadh T A 3: 131,235,635 D245V probably damaging Het
Jag2 G A 12: 112,914,514 probably benign Het
Klhl18 A T 9: 110,429,938 probably benign Het
Lmx1a G T 1: 167,844,623 probably benign Het
Mcoln2 A G 3: 146,170,044 Y89C probably benign Het
Mug1 A T 6: 121,840,065 Y31F possibly damaging Het
Ndufb5 A G 3: 32,737,199 T32A probably benign Het
Nub1 C T 5: 24,703,464 H404Y possibly damaging Het
Nudt6 A G 3: 37,405,171 Y222H probably benign Het
Olfr1269 A T 2: 90,118,857 L247* probably null Het
Pla2g4c A T 7: 13,335,377 R159* probably null Het
Pnpla7 A G 2: 25,050,945 D1103G probably damaging Het
Pof1b T G X: 112,645,237 probably benign Het
Prrg2 C T 7: 45,056,742 probably null Het
Rab3gap1 A G 1: 127,909,863 T221A probably benign Het
Rfx7 A G 9: 72,619,259 N1244D probably damaging Het
Rnf123 G A 9: 108,068,302 R390* probably null Het
Rnf123 A T 9: 108,070,789 probably benign Het
Rnf44 T G 13: 54,683,062 Q207P possibly damaging Het
Serpina3g A G 12: 104,241,178 D200G probably damaging Het
Slc5a4a T A 10: 76,147,579 S17T unknown Het
Smc4 G T 3: 69,025,873 C609F probably damaging Het
Sync T C 4: 129,293,951 F259L probably damaging Het
Tas2r113 T C 6: 132,893,336 L109P probably damaging Het
Tjp2 C A 19: 24,122,379 probably benign Het
Tmem30a C A 9: 79,776,249 probably benign Het
Unc80 T C 1: 66,483,317 V226A possibly damaging Het
Upk2 A T 9: 44,454,139 L44Q probably damaging Het
Usp42 T C 5: 143,723,154 Y203C possibly damaging Het
Vmn1r28 A T 6: 58,265,816 I215F probably benign Het
Zswim2 A G 2: 83,925,209 V116A possibly damaging Het
Other mutations in Fsd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00975:Fsd1l APN 4 53682187 missense probably damaging 1.00
IGL01019:Fsd1l APN 4 53694742 missense probably damaging 1.00
IGL01154:Fsd1l APN 4 53701074 missense probably benign 0.01
IGL01359:Fsd1l APN 4 53659601 missense possibly damaging 0.78
IGL01996:Fsd1l APN 4 53647760 missense probably benign 0.00
IGL02192:Fsd1l APN 4 53647754 missense probably benign
R0009:Fsd1l UTSW 4 53687209 missense probably benign 0.01
R0166:Fsd1l UTSW 4 53647664 splice site probably null
R0255:Fsd1l UTSW 4 53694727 missense probably damaging 1.00
R0349:Fsd1l UTSW 4 53679854 missense probably damaging 0.97
R0409:Fsd1l UTSW 4 53679932 missense probably benign 0.00
R1886:Fsd1l UTSW 4 53696984 splice site probably null
R1887:Fsd1l UTSW 4 53696984 splice site probably null
R2039:Fsd1l UTSW 4 53679972 missense probably benign 0.02
R2289:Fsd1l UTSW 4 53696931 missense possibly damaging 0.64
R4577:Fsd1l UTSW 4 53686397 missense probably damaging 1.00
R5134:Fsd1l UTSW 4 53647766 missense probably benign 0.43
R6073:Fsd1l UTSW 4 53679994 missense probably damaging 1.00
R6216:Fsd1l UTSW 4 53694742 missense probably damaging 1.00
R7184:Fsd1l UTSW 4 53694054 missense probably damaging 1.00
R7285:Fsd1l UTSW 4 53682200 critical splice donor site probably null
R7423:Fsd1l UTSW 4 53686406 missense probably damaging 1.00
R7465:Fsd1l UTSW 4 53647755 missense probably benign
Posted On2015-04-16