Incidental Mutation 'IGL00975:Fsd1l'
ID 306635
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fsd1l
Ensembl Gene ENSMUSG00000054752
Gene Name fibronectin type III and SPRY domain containing 1-like
Synonyms Csdufd1, Fsd1nl, A230072O16Rik, Ccdc10
Accession Numbers
Essential gene? Possibly essential (E-score: 0.683) question?
Stock # IGL00975
Quality Score
Status
Chromosome 4
Chromosomal Location 53631471-53707009 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 53682187 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Leucine to Proline at position 263 (L263P)
Ref Sequence ENSEMBL: ENSMUSP00000124613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000132151] [ENSMUST00000159415] [ENSMUST00000163067] [ENSMUST00000180164]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000132151
AA Change: L263P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000114931
Gene: ENSMUSG00000054752
AA Change: L263P

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: L263P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124002
Gene: ENSMUSG00000054752
AA Change: L263P

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: L263P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000124613
Gene: ENSMUSG00000054752
AA Change: L263P

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: L263P

PolyPhen 2 Score 0.998 (Sensitivity: 0.27; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000136184
Gene: ENSMUSG00000054752
AA Change: L263P

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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Atxn10 A T 15: 85,220,666 (GRCm39) M1L probably benign Het
Atxn7l3 A G 11: 102,185,807 (GRCm39) S3P probably benign Het
Cep112 A G 11: 108,325,012 (GRCm39) D70G probably damaging Het
Col20a1 G A 2: 180,634,271 (GRCm39) A79T probably damaging Het
Cycs T A 6: 50,542,347 (GRCm39) D63V probably benign Het
Dis3 A G 14: 99,316,670 (GRCm39) V855A probably damaging Het
Dnah6 T A 6: 73,150,373 (GRCm39) I797F possibly damaging Het
Dpagt1 T C 9: 44,243,949 (GRCm39) probably null Het
Dst T C 1: 34,227,393 (GRCm39) I1840T possibly damaging Het
Epb41l3 C T 17: 69,514,856 (GRCm39) probably benign Het
Fam20c C T 5: 138,794,912 (GRCm39) H514Y probably benign Het
Fgd6 A T 10: 93,969,938 (GRCm39) M1196L probably damaging Het
Fmo3 T C 1: 162,791,599 (GRCm39) D226G probably benign Het
Gaa C A 11: 119,165,509 (GRCm39) T333K possibly damaging Het
Gm10530 T C 1: 159,512,444 (GRCm39) probably benign Het
Gm5458 A G 14: 19,649,735 (GRCm39) L163P Het
Inpp5j T C 11: 3,452,176 (GRCm39) N358S probably damaging Het
Ms4a8a A G 19: 11,048,151 (GRCm39) L193P probably damaging Het
Neb T C 2: 52,102,740 (GRCm39) K4511R probably benign Het
Odad1 A T 7: 45,592,080 (GRCm39) K320I probably damaging Het
Or5an10 A G 19: 12,276,149 (GRCm39) S116P probably damaging Het
Pcca A G 14: 123,114,312 (GRCm39) D82G probably damaging Het
Pou2f3 T C 9: 43,048,679 (GRCm39) T266A probably benign Het
Ppp1r26 T A 2: 28,343,730 (GRCm39) L1120Q probably damaging Het
Pudp T G 18: 50,701,349 (GRCm39) K128T probably damaging Het
Rcn1 T C 2: 105,225,174 (GRCm39) T94A possibly damaging Het
Six5 T C 7: 18,831,603 (GRCm39) L698P probably damaging Het
Slc13a4 T A 6: 35,251,910 (GRCm39) M461L probably benign Het
Slc30a9 T C 5: 67,507,169 (GRCm39) V487A probably damaging Het
Tbx21 T C 11: 96,990,908 (GRCm39) I257V possibly damaging Het
Tg A G 15: 66,553,731 (GRCm39) D382G probably benign Het
Trim34b C A 7: 103,978,859 (GRCm39) C35* probably null Het
Usp47 A G 7: 111,692,577 (GRCm39) D1013G probably damaging Het
Other mutations in Fsd1l
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01019:Fsd1l APN 4 53,694,742 (GRCm39) missense probably damaging 1.00
IGL01154:Fsd1l APN 4 53,701,074 (GRCm39) missense probably benign 0.01
IGL01359:Fsd1l APN 4 53,659,601 (GRCm39) missense possibly damaging 0.78
IGL01996:Fsd1l APN 4 53,647,760 (GRCm39) missense probably benign 0.00
IGL02192:Fsd1l APN 4 53,647,754 (GRCm39) missense probably benign
IGL02629:Fsd1l APN 4 53,686,417 (GRCm39) missense probably damaging 1.00
R0009:Fsd1l UTSW 4 53,687,209 (GRCm39) missense probably benign 0.01
R0166:Fsd1l UTSW 4 53,647,664 (GRCm39) splice site probably null
R0255:Fsd1l UTSW 4 53,694,727 (GRCm39) missense probably damaging 1.00
R0349:Fsd1l UTSW 4 53,679,854 (GRCm39) missense probably damaging 0.97
R0409:Fsd1l UTSW 4 53,679,932 (GRCm39) missense probably benign 0.00
R1886:Fsd1l UTSW 4 53,696,984 (GRCm39) splice site probably null
R1887:Fsd1l UTSW 4 53,696,984 (GRCm39) splice site probably null
R2039:Fsd1l UTSW 4 53,679,972 (GRCm39) missense probably benign 0.02
R2289:Fsd1l UTSW 4 53,696,931 (GRCm39) missense possibly damaging 0.64
R4577:Fsd1l UTSW 4 53,686,397 (GRCm39) missense probably damaging 1.00
R5134:Fsd1l UTSW 4 53,647,766 (GRCm39) missense probably benign 0.43
R6073:Fsd1l UTSW 4 53,679,994 (GRCm39) missense probably damaging 1.00
R6216:Fsd1l UTSW 4 53,694,742 (GRCm39) missense probably damaging 1.00
R7184:Fsd1l UTSW 4 53,694,054 (GRCm39) missense probably damaging 1.00
R7285:Fsd1l UTSW 4 53,682,200 (GRCm39) critical splice donor site probably null
R7423:Fsd1l UTSW 4 53,686,406 (GRCm39) missense probably damaging 1.00
R7465:Fsd1l UTSW 4 53,647,755 (GRCm39) missense probably benign
R8723:Fsd1l UTSW 4 53,647,001 (GRCm39) missense unknown
R8926:Fsd1l UTSW 4 53,686,493 (GRCm39) missense probably benign
R9131:Fsd1l UTSW 4 53,694,756 (GRCm39) missense probably damaging 0.98
R9220:Fsd1l UTSW 4 53,679,799 (GRCm39) nonsense probably null
R9313:Fsd1l UTSW 4 53,701,093 (GRCm39) missense possibly damaging 0.64
R9313:Fsd1l UTSW 4 53,694,760 (GRCm39) missense probably damaging 1.00
R9380:Fsd1l UTSW 4 53,693,991 (GRCm39) missense possibly damaging 0.69
R9448:Fsd1l UTSW 4 53,694,826 (GRCm39) nonsense probably null
R9712:Fsd1l UTSW 4 53,679,972 (GRCm39) missense probably benign 0.02
Posted On 2015-04-16