Incidental Mutation 'R4420:Fbrsl1'
ID 327043
Institutional Source Beutler Lab
Gene Symbol Fbrsl1
Ensembl Gene ENSMUSG00000043323
Gene Name fibrosin-like 1
Synonyms LOC381668, 2410025L10Rik, Gm29766
MMRRC Submission 041141-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.067) question?
Stock # R4420 (G1)
Quality Score 86
Status Validated
Chromosome 5
Chromosomal Location 110509617-110596369 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 110526852 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Histidine to Arginine at position 387 (H387R)
Ref Sequence ENSEMBL: ENSMUSP00000142625 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000056124] [ENSMUST00000069483] [ENSMUST00000196801] [ENSMUST00000198768] [ENSMUST00000198834]
AlphaFold E9Q9T0
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 possibly damaging
Transcript: ENSMUST00000069483
AA Change: H387R

PolyPhen 2 Score 0.654 (Sensitivity: 0.87; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000063879
Gene: ENSMUSG00000043323
AA Change: H387R

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 possibly damaging
Transcript: ENSMUST00000196801
AA Change: H387R

PolyPhen 2 Score 0.663 (Sensitivity: 0.86; Specificity: 0.91)
SMART Domains Protein: ENSMUSP00000142625
Gene: ENSMUSG00000043323
AA Change: H387R

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 unknown
Transcript: ENSMUST00000198768
AA Change: H224R
SMART Domains Protein: ENSMUSP00000142379
Gene: ENSMUSG00000043323
AA Change: H224R

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
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.2%
  • 3x: 98.6%
  • 10x: 97.3%
  • 20x: 95.3%
Validation Efficiency 96% (53/55)
Allele List at MGI
Other mutations in this stock
Total: 48 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgef17 G A 7: 100,531,515 (GRCm39) probably benign Het
Atp1b1 T C 1: 164,281,127 (GRCm39) T53A probably damaging Het
Carmil3 A G 14: 55,731,045 (GRCm39) Q104R probably damaging Het
Casz1 T G 4: 149,033,375 (GRCm39) N1382K possibly damaging Het
Chfr T A 5: 110,318,746 (GRCm39) C585* probably null Het
Chp2 T C 7: 121,821,161 (GRCm39) F174S probably damaging Het
Dclre1c A T 2: 3,434,782 (GRCm39) probably null Het
Dnah6 A G 6: 73,168,462 (GRCm39) V487A probably benign Het
Dnah9 T C 11: 66,009,575 (GRCm39) R771G probably benign Het
Duox1 G A 2: 122,157,607 (GRCm39) A578T probably benign Het
Elp3 G A 14: 65,818,240 (GRCm39) A140V probably damaging Het
Gnat3 T C 5: 18,204,799 (GRCm39) S151P probably damaging Het
Gucy1a2 T A 9: 3,634,640 (GRCm39) L228H probably damaging Het
Gzmn A T 14: 56,403,463 (GRCm39) H215Q probably benign Het
Heg1 A T 16: 33,547,805 (GRCm39) E864V probably benign Het
Hoxb9 T C 11: 96,162,807 (GRCm39) V147A probably benign Het
Hsf5 T G 11: 87,548,130 (GRCm39) H604Q probably benign Het
Hus1 T C 11: 8,950,133 (GRCm39) E196G probably damaging Het
Il12rb2 G T 6: 67,293,394 (GRCm39) probably null Het
Irs1 T C 1: 82,266,171 (GRCm39) S682G possibly damaging Het
Jcad T C 18: 4,676,032 (GRCm39) S1265P probably benign Het
Kdm1b C T 13: 47,216,553 (GRCm39) R308W probably damaging Het
Matk A G 10: 81,098,291 (GRCm39) S361G possibly damaging Het
Mroh5 TGGAG TG 15: 73,654,923 (GRCm39) probably benign Het
Nceh1 A G 3: 27,295,798 (GRCm39) D353G probably damaging Het
Nqo1 C T 8: 108,118,749 (GRCm39) probably null Het
Or5t7 A G 2: 86,507,263 (GRCm39) V138A possibly damaging Het
Pcdh7 T C 5: 58,286,512 (GRCm39) I1196T probably benign Het
Pla2g4d A G 2: 120,114,644 (GRCm39) V29A probably benign Het
Ppfibp1 T A 6: 146,927,736 (GRCm39) Y794* probably null Het
Prdx5 C A 19: 6,885,332 (GRCm39) probably null Het
Psme4 C T 11: 30,762,028 (GRCm39) T456I possibly damaging Het
Ptprd A T 4: 75,957,614 (GRCm39) S923R possibly damaging Het
Samd12 G A 15: 53,723,655 (GRCm39) R13W probably damaging Het
Slc35f4 A T 14: 49,551,034 (GRCm39) probably benign Het
Smc1b A G 15: 84,997,031 (GRCm39) Y530H probably damaging Het
Spata2l T C 8: 123,960,768 (GRCm39) T174A possibly damaging Het
Sugct C T 13: 17,627,130 (GRCm39) C241Y probably damaging Het
Tarbp1 G T 8: 127,173,819 (GRCm39) A965D possibly damaging Het
Tas1r3 A G 4: 155,946,789 (GRCm39) V272A probably damaging Het
Tas2r117 T A 6: 132,780,312 (GRCm39) L150* probably null Het
Trip10 C T 17: 57,562,448 (GRCm39) P322L probably benign Het
Wdfy3 A C 5: 102,058,850 (GRCm39) H1487Q probably damaging Het
Wdr95 G A 5: 149,456,131 (GRCm39) V8M probably damaging Het
Zc3h15 C A 2: 83,488,356 (GRCm39) A98E probably damaging Het
Zfp763 T G 17: 33,237,455 (GRCm39) K563N probably benign Het
Zmym2 G A 14: 57,194,335 (GRCm39) D1198N probably damaging Het
Zp1 C T 19: 10,892,124 (GRCm39) probably null 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
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'- GGAGGGATGTACAGAATCCTCG -3'
(R):5'- AGCTCAGCACGGAAGCTTTC -3'

Sequencing Primer
(F):5'- GGATGTACAGAATCCTCGAAGATCC -3'
(R):5'- AGAGAAGCGCCCGTTGTAC -3'
Posted On 2015-07-07