Incidental Mutation 'R2081:Fbrsl1'
ID 229474
Institutional Source Beutler Lab
Gene Symbol Fbrsl1
Ensembl Gene ENSMUSG00000043323
Gene Name fibrosin-like 1
Synonyms LOC381668, 2410025L10Rik, Gm29766
MMRRC Submission 040086-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R2081 (G1)
Quality Score 225
Status Not validated
Chromosome 5
Chromosomal Location 110509617-110596369 bp(-) (GRCm39)
Type of Mutation critical splice acceptor site
DNA Base Change (assembly) T to A at 110519491 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000143147 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056124] [ENSMUST00000056124] [ENSMUST00000069483] [ENSMUST00000069483] [ENSMUST00000069483] [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000196801] [ENSMUST00000198834] [ENSMUST00000198834]
AlphaFold E9Q9T0
Predicted Effect probably null
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 null
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 null
Transcript: ENSMUST00000069483
SMART Domains Protein: ENSMUSP00000063879
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 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 null
Transcript: ENSMUST00000069483
SMART Domains Protein: ENSMUSP00000063879
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 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 null
Transcript: ENSMUST00000069483
SMART Domains Protein: ENSMUSP00000063879
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 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 null
Transcript: ENSMUST00000069483
SMART Domains Protein: ENSMUSP00000063879
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 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: 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 null
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
Predicted Effect probably null
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
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 68 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acsl6 A G 11: 54,211,085 (GRCm39) T28A possibly damaging Het
Actl11 G A 9: 107,807,396 (GRCm39) G573D probably benign Het
Adam39 T A 8: 41,279,879 (GRCm39) *757K probably null Het
Agpat4 T C 17: 12,370,771 (GRCm39) I38T possibly damaging Het
Ap3d1 A C 10: 80,568,770 (GRCm39) I36S probably damaging Het
Arhgap45 T C 10: 79,863,508 (GRCm39) F784L probably damaging Het
Atg5lrt T C 10: 95,972,601 (GRCm39) I46T possibly damaging Het
Atp10b T A 11: 43,092,955 (GRCm39) I430N probably damaging Het
Atrip T A 9: 108,901,807 (GRCm39) probably null Het
C2cd4b G T 9: 67,667,859 (GRCm39) R285L probably damaging Het
Camta1 T C 4: 151,228,699 (GRCm39) E711G probably benign Het
Clcn6 T C 4: 148,095,525 (GRCm39) Y685C probably damaging Het
Col18a1 T A 10: 76,890,019 (GRCm39) D1447V probably damaging Het
Crispld1 T A 1: 17,832,403 (GRCm39) V463D probably damaging Het
Crybg2 T G 4: 133,816,131 (GRCm39) F1612V possibly damaging Het
Dclk1 T C 3: 55,429,346 (GRCm39) probably null Het
Ddx46 G T 13: 55,821,829 (GRCm39) V834L probably benign Het
Dnah10 A G 5: 124,852,045 (GRCm39) D1734G possibly damaging Het
Dpep1 T C 8: 123,926,117 (GRCm39) V152A probably damaging Het
Ect2l T C 10: 18,041,275 (GRCm39) E301G probably damaging Het
Elf3 C T 1: 135,184,814 (GRCm39) C124Y probably benign Het
Eno2 A G 6: 124,740,088 (GRCm39) V316A probably damaging Het
Erap1 A G 13: 74,823,426 (GRCm39) E820G possibly damaging Het
Evpl A T 11: 116,125,092 (GRCm39) H123Q probably damaging Het
Fat2 T A 11: 55,200,503 (GRCm39) Y857F possibly damaging Het
Fbxw7 A G 3: 84,881,820 (GRCm39) D432G probably damaging Het
Flt1 A T 5: 147,576,232 (GRCm39) L592Q probably damaging Het
Gm14496 T A 2: 181,642,272 (GRCm39) C648S probably damaging Het
Gm5150 A T 3: 16,045,109 (GRCm39) S39T probably benign Het
Gse1 C A 8: 121,293,219 (GRCm39) P177Q probably damaging Het
Heatr4 G A 12: 84,027,096 (GRCm39) R54W probably damaging Het
Hpgd C A 8: 56,760,677 (GRCm39) Q125K probably benign Het
Hsh2d G A 8: 72,954,304 (GRCm39) D229N probably benign Het
Mast2 A T 4: 116,187,671 (GRCm39) probably null Het
Mfsd11 A G 11: 116,752,381 (GRCm39) T177A possibly damaging Het
Mlx T C 11: 100,978,257 (GRCm39) S36P probably benign Het
Mlxipl T A 5: 135,142,492 (GRCm39) V102D probably damaging Het
Mms22l T C 4: 24,536,150 (GRCm39) Y540H probably damaging Het
Msc T C 1: 14,825,941 (GRCm39) D11G probably benign Het
Muc4 C G 16: 32,574,020 (GRCm39) S699R probably benign Het
Nckap1l T C 15: 103,405,881 (GRCm39) S1106P probably damaging Het
Obscn T C 11: 58,925,008 (GRCm39) E5703G possibly damaging Het
Or2ag1 A G 7: 106,313,405 (GRCm39) M161T probably benign Het
Pabpn1 A G 14: 55,133,115 (GRCm39) K38E probably damaging Het
Padi3 A T 4: 140,526,290 (GRCm39) L141Q probably damaging Het
Pakap G A 4: 57,855,927 (GRCm39) E419K possibly damaging Het
Pde3b A G 7: 114,122,657 (GRCm39) N742D probably benign Het
Pex1 T A 5: 3,674,132 (GRCm39) probably null Het
Pkd2 T C 5: 104,608,077 (GRCm39) V192A probably benign Het
Ppp6r2 T A 15: 89,166,332 (GRCm39) M750K probably benign Het
Prdm15 A T 16: 97,604,980 (GRCm39) Y783* probably null Het
Prox2 T A 12: 85,141,782 (GRCm39) Q140H probably damaging Het
Psg27 A T 7: 18,290,883 (GRCm39) I440K probably damaging Het
Pzp A G 6: 128,496,383 (GRCm39) M283T probably benign Het
Sec23a G A 12: 59,045,067 (GRCm39) Q192* probably null Het
Sh2b1 A G 7: 126,071,862 (GRCm39) S108P possibly damaging Het
Syce1 C A 7: 140,359,809 (GRCm39) L83F probably damaging Het
Tkfc G A 19: 10,574,742 (GRCm39) A166V probably damaging Het
Tomm70a T C 16: 56,961,121 (GRCm39) V358A probably damaging Het
Trim47 A G 11: 115,997,239 (GRCm39) F505S probably damaging Het
Tti2 T C 8: 31,641,337 (GRCm39) F154L possibly damaging Het
Ubap2l C T 3: 89,946,271 (GRCm39) G111D possibly damaging Het
Usp9y A T Y: 1,381,277 (GRCm39) I848N possibly damaging Het
Veph1 T C 3: 65,968,523 (GRCm39) Y740C probably damaging Het
Vmn2r114 T A 17: 23,510,083 (GRCm39) H799L possibly damaging Het
Wdr31 T A 4: 62,374,180 (GRCm39) M270L probably benign Het
Zfp26 A G 9: 20,347,913 (GRCm39) S884P probably benign Het
Zswim6 T A 13: 107,909,930 (GRCm39) noncoding transcript 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
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
R6661:Fbrsl1 UTSW 5 110,525,963 (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'- CTCAGAACCTTGTAGTCTGGGC -3'
(R):5'- CTACAGTCAGGACCATTGCC -3'

Sequencing Primer
(F):5'- CGGGTGCCATCCATACTG -3'
(R):5'- TGGGGCCTCCAGAGCTG -3'
Posted On 2014-09-17