Incidental Mutation 'R6661:Fbrsl1'
ID 526838
Institutional Source Beutler Lab
Gene Symbol Fbrsl1
Ensembl Gene ENSMUSG00000043323
Gene Name fibrosin-like 1
Synonyms LOC381668, 2410025L10Rik, Gm29766
MMRRC Submission 044781-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R6661 (G1)
Quality Score 136.008
Status Not validated
Chromosome 5
Chromosomal Location 110509617-110596369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to T at 110525963 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Phenylalanine to Isoleucine at position 80 (F80I)
Ref Sequence ENSEMBL: ENSMUSP00000054613 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056124] [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000198768] [ENSMUST00000198834]
AlphaFold E9Q9T0
Predicted Effect probably damaging
Transcript: ENSMUST00000056124
AA Change: F80I

PolyPhen 2 Score 0.995 (Sensitivity: 0.68; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000054613
Gene: ENSMUSG00000043323
AA Change: F80I

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: F494I

PolyPhen 2 Score 0.986 (Sensitivity: 0.74; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: F494I

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 probably benign
Transcript: ENSMUST00000196801
SMART Domains Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323

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 benign
Transcript: ENSMUST00000198768
SMART Domains Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323

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 damaging
Transcript: ENSMUST00000198834
AA Change: F80I

PolyPhen 2 Score 0.992 (Sensitivity: 0.70; Specificity: 0.97)
SMART Domains Protein: ENSMUSP00000143147
Gene: ENSMUSG00000043323
AA Change: F80I

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
  • 1x: 99.9%
  • 3x: 99.5%
  • 10x: 97.8%
  • 20x: 93.8%
Validation Efficiency 93% (38/41)
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Amy2a1 T C 3: 113,325,363 (GRCm39) Y77C probably damaging Het
Ankrd9 C A 12: 110,944,202 (GRCm39) probably benign Het
Arhgap28 C A 17: 68,152,746 (GRCm39) W675L probably damaging Het
Arhgap44 A G 11: 64,900,834 (GRCm39) S595P probably damaging Het
Brd10 A T 19: 29,700,864 (GRCm39) H741Q possibly damaging Het
Cacna1d C A 14: 29,811,832 (GRCm39) D1273Y probably damaging Het
Ccr4 T C 9: 114,325,031 (GRCm39) probably benign Het
Celsr1 A G 15: 85,803,135 (GRCm39) V2468A probably damaging Het
Chd2 T C 7: 73,140,230 (GRCm39) E666G possibly damaging Het
Ctnnd1 C A 2: 84,439,986 (GRCm39) V775L probably damaging Het
Cux2 C A 5: 122,007,360 (GRCm39) R767L probably benign Het
Decr2 A G 17: 26,302,561 (GRCm39) L217S possibly damaging Het
Dennd4c T A 4: 86,717,626 (GRCm39) M541K possibly damaging Het
Dnah7a T C 1: 53,662,609 (GRCm39) R651G probably benign Het
Fmnl2 C A 2: 52,998,297 (GRCm39) P554Q probably damaging Het
Gapvd1 C T 2: 34,618,450 (GRCm39) D308N probably damaging Het
Gatb A G 3: 85,559,726 (GRCm39) probably null Het
Jcad G A 18: 4,675,256 (GRCm39) G1006D probably damaging Het
Krt1c A G 15: 101,724,398 (GRCm39) Y289H probably damaging Het
Lrrc52 A G 1: 167,293,922 (GRCm39) F121S probably damaging Het
Lrrc63 G A 14: 75,362,633 (GRCm39) T299I unknown Het
Magi1 T C 6: 93,920,289 (GRCm39) N109S probably benign Het
Mbd4 C A 6: 115,826,116 (GRCm39) E271* probably null Het
Meis2 T A 2: 115,694,751 (GRCm39) D457V probably damaging Het
Mroh8 A G 2: 157,067,547 (GRCm39) V604A probably benign Het
Nedd4 T A 9: 72,593,377 (GRCm39) V150E probably damaging Het
Nes A G 3: 87,884,243 (GRCm39) E790G probably damaging Het
Or8h8 T C 2: 86,753,492 (GRCm39) N128S probably benign Het
Pik3c2a T C 7: 115,967,993 (GRCm39) I834V possibly damaging Het
Plxnb1 T C 9: 108,933,367 (GRCm39) C666R possibly damaging Het
Prg2 T C 2: 84,813,620 (GRCm39) probably null Het
Selenbp2 A G 3: 94,609,821 (GRCm39) D257G probably damaging Het
Slf1 T C 13: 77,191,964 (GRCm39) R957G probably damaging Het
Smim10l1 T A 6: 133,082,513 (GRCm39) M46K possibly damaging Het
Sptbn5 T C 2: 119,902,856 (GRCm39) Y50C possibly damaging Het
Tcea1 A G 1: 4,928,652 (GRCm39) probably benign Het
Tex14 A G 11: 87,385,842 (GRCm39) E234G probably damaging Het
Tmbim4 T C 10: 120,060,556 (GRCm39) V181A probably benign Het
Trappc9 A G 15: 72,461,993 (GRCm39) S1091P possibly damaging Het
Txnrd3 T A 6: 89,631,134 (GRCm39) C143* probably null Het
Ushbp1 C T 8: 71,843,305 (GRCm39) C314Y unknown Het
Other mutations in Fbrsl1
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01413:Fbrsl1 APN 5 110,526,114 (GRCm39) missense probably damaging 0.99
IGL01743:Fbrsl1 APN 5 110,529,506 (GRCm39) missense probably damaging 0.98
IGL01910:Fbrsl1 APN 5 110,511,602 (GRCm39) missense probably damaging 1.00
F5770:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
FR4342:Fbrsl1 UTSW 5 110,525,991 (GRCm39) small insertion probably benign
FR4589:Fbrsl1 UTSW 5 110,526,016 (GRCm39) small insertion probably benign
R0084:Fbrsl1 UTSW 5 110,527,381 (GRCm39) missense probably damaging 0.99
R0126:Fbrsl1 UTSW 5 110,543,906 (GRCm39) splice site probably benign
R0336:Fbrsl1 UTSW 5 110,595,817 (GRCm39) missense probably damaging 0.96
R1196:Fbrsl1 UTSW 5 110,522,385 (GRCm39) missense probably benign 0.21
R1712:Fbrsl1 UTSW 5 110,595,862 (GRCm39) missense probably benign 0.01
R1998:Fbrsl1 UTSW 5 110,524,305 (GRCm39) missense probably benign 0.43
R2081:Fbrsl1 UTSW 5 110,519,491 (GRCm39) critical splice acceptor site probably null
R2108:Fbrsl1 UTSW 5 110,526,300 (GRCm39) missense probably damaging 0.97
R4420:Fbrsl1 UTSW 5 110,526,852 (GRCm39) missense possibly damaging 0.66
R4472:Fbrsl1 UTSW 5 110,526,932 (GRCm39) start gained probably benign
R4931:Fbrsl1 UTSW 5 110,526,895 (GRCm39) missense possibly damaging 0.89
R4994:Fbrsl1 UTSW 5 110,595,817 (GRCm39) missense probably damaging 0.96
R5025:Fbrsl1 UTSW 5 110,565,767 (GRCm39) missense probably damaging 0.99
R5084:Fbrsl1 UTSW 5 110,527,272 (GRCm39) start gained probably benign
R5326:Fbrsl1 UTSW 5 110,526,307 (GRCm39) missense probably damaging 1.00
R5542:Fbrsl1 UTSW 5 110,526,307 (GRCm39) missense probably damaging 1.00
R5590:Fbrsl1 UTSW 5 110,529,484 (GRCm39) missense probably damaging 0.96
R6168:Fbrsl1 UTSW 5 110,543,922 (GRCm39) missense probably damaging 0.97
R6234:Fbrsl1 UTSW 5 110,525,917 (GRCm39) missense probably damaging 0.97
R6325:Fbrsl1 UTSW 5 110,525,273 (GRCm39) missense probably damaging 1.00
R7269:Fbrsl1 UTSW 5 110,580,880 (GRCm39) missense probably benign 0.15
R7514:Fbrsl1 UTSW 5 110,580,799 (GRCm39) missense probably benign 0.06
R7586:Fbrsl1 UTSW 5 110,526,020 (GRCm39) missense probably damaging 0.99
R7791:Fbrsl1 UTSW 5 110,595,885 (GRCm39) missense probably benign 0.00
R8108:Fbrsl1 UTSW 5 110,526,245 (GRCm39) splice site probably null
R8182:Fbrsl1 UTSW 5 110,526,861 (GRCm39) missense possibly damaging 0.46
R8679:Fbrsl1 UTSW 5 110,526,086 (GRCm39) missense probably damaging 1.00
R9234:Fbrsl1 UTSW 5 110,511,250 (GRCm39) missense probably benign 0.00
R9753:Fbrsl1 UTSW 5 110,526,835 (GRCm39) missense unknown
RF008:Fbrsl1 UTSW 5 110,525,984 (GRCm39) small insertion probably benign
RF029:Fbrsl1 UTSW 5 110,526,005 (GRCm39) small insertion probably benign
RF031:Fbrsl1 UTSW 5 110,526,017 (GRCm39) small insertion probably benign
RF033:Fbrsl1 UTSW 5 110,525,991 (GRCm39) small insertion probably benign
RF034:Fbrsl1 UTSW 5 110,526,015 (GRCm39) small insertion probably benign
RF037:Fbrsl1 UTSW 5 110,526,017 (GRCm39) nonsense probably null
RF061:Fbrsl1 UTSW 5 110,525,997 (GRCm39) small insertion probably benign
RF063:Fbrsl1 UTSW 5 110,526,009 (GRCm39) small insertion probably benign
RF063:Fbrsl1 UTSW 5 110,526,005 (GRCm39) small insertion probably benign
RF064:Fbrsl1 UTSW 5 110,525,997 (GRCm39) small insertion probably benign
V7582:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0018:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0019:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0020:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0021:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0022:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0022:Fbrsl1 UTSW 5 110,519,415 (GRCm39) missense probably damaging 1.00
X0023:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0024:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0027:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0050:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0052:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0053:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0054:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0057:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0058:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0060:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0061:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0062:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0063:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0064:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0065:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0066:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
X0067:Fbrsl1 UTSW 5 110,527,292 (GRCm39) missense possibly damaging 0.90
Predicted Primers PCR Primer
(F):5'- CTAAGACTGAGCACTGCTGC -3'
(R):5'- TTGGTACTTGGTCACAGGCTC -3'

Sequencing Primer
(F):5'- ACTGAGCACTGCTGCAGCTAG -3'
(R):5'- AGTGCCAGGTGACTATCCG -3'
Posted On 2018-07-23