Incidental Mutation 'IGL01743:Fbrsl1'
ID152947
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fbrsl1
Ensembl Gene ENSMUSG00000043323
Gene Namefibrosin-like 1
Synonyms2410025L10Rik, LOC381668
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.110) question?
Stock #IGL01743
Quality Score
Status
Chromosome5
Chromosomal Location110361754-110448503 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 110381640 bp
ZygosityHeterozygous
Amino Acid Change Valine to Methionine at position 223 (V223M)
Ref Sequence ENSEMBL: ENSMUSP00000063879 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056124] [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000198768] [ENSMUST00000198834]
Predicted Effect probably benign
Transcript: ENSMUST00000056124
SMART Domains Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 82 100 N/A INTRINSIC
Pfam:Auts2 125 329 3.1e-96 PFAM
low complexity region 464 480 N/A INTRINSIC
low complexity region 498 513 N/A INTRINSIC
low complexity region 528 542 N/A INTRINSIC
low complexity region 543 559 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000069483
AA Change: V223M

PolyPhen 2 Score 0.979 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: V223M

DomainStartEndE-ValueType
low complexity region 6 30 N/A INTRINSIC
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
low complexity region 180 201 N/A INTRINSIC
low complexity region 269 286 N/A INTRINSIC
low complexity region 293 308 N/A INTRINSIC
low complexity region 335 348 N/A INTRINSIC
low complexity region 377 410 N/A INTRINSIC
low complexity region 476 493 N/A INTRINSIC
low complexity region 496 514 N/A INTRINSIC
Pfam:Auts2 564 767 1.9e-95 PFAM
low complexity region 902 918 N/A INTRINSIC
low complexity region 936 951 N/A INTRINSIC
low complexity region 966 980 N/A INTRINSIC
low complexity region 981 997 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000180866
Predicted Effect probably damaging
Transcript: ENSMUST00000196801
AA Change: V223M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: V223M

DomainStartEndE-ValueType
low complexity region 6 30 N/A INTRINSIC
low complexity region 31 45 N/A INTRINSIC
low complexity region 52 71 N/A INTRINSIC
low complexity region 180 201 N/A INTRINSIC
low complexity region 269 286 N/A INTRINSIC
low complexity region 293 308 N/A INTRINSIC
low complexity region 335 348 N/A INTRINSIC
low complexity region 377 410 N/A INTRINSIC
low complexity region 447 456 N/A INTRINSIC
low complexity region 489 497 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000198768
AA Change: V60M

PolyPhen 2 Score 0.974 (Sensitivity: 0.76; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
AA Change: V60M

DomainStartEndE-ValueType
low complexity region 17 38 N/A INTRINSIC
low complexity region 106 123 N/A INTRINSIC
low complexity region 130 145 N/A INTRINSIC
low complexity region 172 185 N/A INTRINSIC
low complexity region 219 232 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000198834
SMART Domains Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323

DomainStartEndE-ValueType
low complexity region 3 16 N/A INTRINSIC
low complexity region 62 79 N/A INTRINSIC
low complexity region 82 100 N/A INTRINSIC
Pfam:Auts2 150 353 4.1e-107 PFAM
low complexity region 488 504 N/A INTRINSIC
low complexity region 522 537 N/A INTRINSIC
low complexity region 552 566 N/A INTRINSIC
low complexity region 567 583 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 63 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A430078G23Rik G T 8: 3,364,697 C25F probably benign Het
Abcc6 A T 7: 45,996,814 N750K probably benign Het
Ackr2 T C 9: 121,909,500 C314R probably benign Het
Adar C T 3: 89,745,440 Q210* probably null Het
Aifm1 A G X: 48,480,276 probably benign Het
Aldoa G T 7: 126,796,703 D198E probably damaging Het
Ampd1 T A 3: 103,094,885 probably benign Het
Btnl1 T C 17: 34,385,685 I480T probably damaging Het
Capn9 T C 8: 124,591,769 S125P probably benign Het
Cd40lg T A X: 57,212,232 Y26* probably null Het
Cdc42bpg G T 19: 6,309,823 probably null Het
Cdh10 T C 15: 18,986,769 L362P probably benign Het
Dhx16 A G 17: 35,888,108 D782G probably damaging Het
Dnajb14 G T 3: 137,906,000 V320L possibly damaging Het
Dpy19l1 C T 9: 24,485,069 R117Q probably damaging Het
Ercc6 T C 14: 32,552,604 V568A probably damaging Het
Faf2 T C 13: 54,641,498 probably null Het
Fcrl5 T C 3: 87,444,291 V282A probably damaging Het
Fxr2 C T 11: 69,652,622 L650F possibly damaging Het
Gabrq A G X: 72,836,842 M314V probably benign Het
Gnas T A 2: 174,298,332 Y157* probably null Het
Gtf2i T C 5: 134,286,893 E175G probably damaging Het
Gtf3c1 A C 7: 125,663,415 Y1091D probably damaging Het
Heatr5b G A 17: 78,824,640 Q345* probably null Het
Hydin T C 8: 110,592,776 V4437A possibly damaging Het
Idi2 T A 13: 8,958,542 L112Q probably damaging Het
Ift80 C T 3: 68,962,296 V221M probably benign Het
Il16 A G 7: 83,652,299 F205S probably benign Het
Irf1 T A 11: 53,774,451 M218K probably benign Het
Itga8 T C 2: 12,265,333 N114S probably benign Het
Itgae T C 11: 73,111,759 V114A probably benign Het
Klhdc10 A G 6: 30,441,934 probably null Het
Krt78 C A 15: 101,950,898 R288L probably benign Het
Lars2 A T 9: 123,453,248 L632F probably damaging Het
Mpdz T C 4: 81,317,682 D1220G probably damaging Het
Msl1 C T 11: 98,805,419 T597I probably damaging Het
Mtor T C 4: 148,530,613 probably benign Het
Myo1b T C 1: 51,782,020 T435A probably damaging Het
Neb A G 2: 52,225,667 Y4176H probably damaging Het
Nxpe3 A G 16: 55,849,765 F326L probably benign Het
Olfr532 T C 7: 140,419,668 Y35C probably damaging Het
Olfr705 A G 7: 106,714,334 S116P possibly damaging Het
Pak7 T A 2: 136,087,413 R617W probably damaging Het
Peak1 C A 9: 56,259,202 V481L probably damaging Het
Pik3ap1 G A 19: 41,292,828 probably benign Het
Pmm1 C T 15: 81,960,786 E6K probably benign Het
Ppp2r5c G A 12: 110,580,434 V454M probably benign Het
Ptprf C T 4: 118,248,898 probably null Het
Pygm G A 19: 6,392,994 probably null Het
Rimbp2 T A 5: 128,797,848 probably benign Het
Rps6ka5 A T 12: 100,575,633 probably null Het
Scarb2 A G 5: 92,460,803 V188A probably benign Het
Sfrp1 T A 8: 23,412,338 probably benign Het
Siglec15 T A 18: 78,043,605 probably benign Het
Smgc A G 15: 91,854,593 I485V probably benign Het
Tas2r124 A G 6: 132,754,835 I36V probably benign Het
Trmt10b G T 4: 45,305,879 G185W probably damaging Het
Ttll4 A G 1: 74,688,193 N798S possibly damaging Het
Ttn G T 2: 76,789,552 T15924N probably damaging Het
Utrn A T 10: 12,711,557 Y912N possibly damaging Het
Vmn2r113 T C 17: 22,958,311 Y690H probably benign Het
Vmn2r51 T C 7: 10,100,227 R295G probably damaging Het
Vpreb3 A G 10: 75,948,397 T14A probably benign Het
Other mutations in Fbrsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Fbrsl1 APN 5 110378248 missense probably damaging 0.99
IGL01910:Fbrsl1 APN 5 110363736 missense probably damaging 1.00
F5770:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
FR4342:Fbrsl1 UTSW 5 110378125 small insertion probably benign
FR4589:Fbrsl1 UTSW 5 110378150 small insertion probably benign
R0084:Fbrsl1 UTSW 5 110379515 missense probably damaging 0.99
R0126:Fbrsl1 UTSW 5 110396040 splice site probably benign
R0336:Fbrsl1 UTSW 5 110447951 missense probably damaging 0.96
R1196:Fbrsl1 UTSW 5 110374519 missense probably benign 0.21
R1712:Fbrsl1 UTSW 5 110447996 missense probably benign 0.01
R1998:Fbrsl1 UTSW 5 110376439 missense probably benign 0.43
R2081:Fbrsl1 UTSW 5 110371625 critical splice acceptor site probably null
R2108:Fbrsl1 UTSW 5 110378434 missense probably damaging 0.97
R4420:Fbrsl1 UTSW 5 110378986 missense possibly damaging 0.66
R4472:Fbrsl1 UTSW 5 110379066 start gained probably benign
R4931:Fbrsl1 UTSW 5 110379029 missense possibly damaging 0.89
R4994:Fbrsl1 UTSW 5 110447951 missense probably damaging 0.96
R5025:Fbrsl1 UTSW 5 110417901 missense probably damaging 0.99
R5084:Fbrsl1 UTSW 5 110379406 start gained probably benign
R5326:Fbrsl1 UTSW 5 110378441 missense probably damaging 1.00
R5542:Fbrsl1 UTSW 5 110378441 missense probably damaging 1.00
R5590:Fbrsl1 UTSW 5 110381618 missense probably damaging 0.96
R6168:Fbrsl1 UTSW 5 110396056 missense probably damaging 0.97
R6234:Fbrsl1 UTSW 5 110378051 missense probably damaging 0.97
R6325:Fbrsl1 UTSW 5 110377407 missense probably damaging 1.00
R6661:Fbrsl1 UTSW 5 110378097 missense probably damaging 1.00
R7269:Fbrsl1 UTSW 5 110433014 missense probably benign 0.15
V7582:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0018:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0019:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0020:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0021:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0022:Fbrsl1 UTSW 5 110371549 missense probably damaging 1.00
X0022:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0023:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0024:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0027:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0050:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0052:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0053:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0054:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0057:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0058:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0060:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0061:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0062:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0063:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0064:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0065:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0066:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
X0067:Fbrsl1 UTSW 5 110379426 missense possibly damaging 0.90
Posted On2014-02-04