Incidental Mutation 'R5105:Fscb'
ID 401996
Institutional Source Beutler Lab
Gene Symbol Fscb
Ensembl Gene ENSMUSG00000043060
Gene Name fibrous sheath CABYR binding protein
Synonyms EG623046
MMRRC Submission 042693-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.079) question?
Stock # R5105 (G1)
Quality Score 225
Status Validated
Chromosome 12
Chromosomal Location 64518104-64521464 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 64520110 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Glutamic Acid to Glycine at position 452 (E452G)
Ref Sequence ENSEMBL: ENSMUSP00000051554 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000059833]
AlphaFold no structure available at present
Predicted Effect possibly damaging
Transcript: ENSMUST00000059833
AA Change: E452G

PolyPhen 2 Score 0.816 (Sensitivity: 0.84; Specificity: 0.93)
SMART Domains Protein: ENSMUSP00000051554
Gene: ENSMUSG00000043060
AA Change: E452G

DomainStartEndE-ValueType
low complexity region 2 10 N/A INTRINSIC
low complexity region 273 290 N/A INTRINSIC
internal_repeat_1 295 465 2.4e-7 PROSPERO
low complexity region 483 501 N/A INTRINSIC
low complexity region 510 547 N/A INTRINSIC
low complexity region 558 595 N/A INTRINSIC
low complexity region 599 622 N/A INTRINSIC
low complexity region 641 661 N/A INTRINSIC
low complexity region 673 708 N/A INTRINSIC
low complexity region 721 730 N/A INTRINSIC
internal_repeat_1 736 895 2.4e-7 PROSPERO
internal_repeat_2 751 871 6.17e-6 PROSPERO
low complexity region 899 916 N/A INTRINSIC
internal_repeat_2 919 1046 6.17e-6 PROSPERO
Meta Mutation Damage Score 0.1795 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.5%
  • 20x: 95.8%
Validation Efficiency 96% (52/54)
Allele List at MGI
Other mutations in this stock
Total: 47 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Btbd8 T G 5: 107,658,337 (GRCm39) S1124A possibly damaging Het
Camsap1 A G 2: 25,830,941 (GRCm39) S445P probably damaging Het
Ccdc92 G A 5: 124,912,858 (GRCm39) P224S probably damaging Het
Cep135 T C 5: 76,741,939 (GRCm39) V125A probably benign Het
Cep192 T A 18: 67,999,612 (GRCm39) C2159S probably benign Het
Col1a1 G T 11: 94,833,211 (GRCm39) R404L unknown Het
Col6a3 A T 1: 90,725,862 (GRCm39) M1382K possibly damaging Het
Cyp4a12b T C 4: 115,290,958 (GRCm39) S329P probably damaging Het
Dclk1 T G 3: 55,163,360 (GRCm39) S151A probably benign Het
Ddhd1 A T 14: 45,894,864 (GRCm39) V202E probably benign Het
Dlx6 AGG AG 6: 6,865,180 (GRCm39) probably null Het
Dnah10 A G 5: 124,888,546 (GRCm39) E3050G probably benign Het
Dync1h1 T A 12: 110,584,366 (GRCm39) F590I probably damaging Het
Eif4b T C 15: 101,992,631 (GRCm39) Y63H probably benign Het
Gpx3 A T 11: 54,797,980 (GRCm39) T39S possibly damaging Het
Grin2b T A 6: 135,709,439 (GRCm39) Y1369F probably benign Het
Kank4 A T 4: 98,667,396 (GRCm39) N350K probably benign Het
Kdm5d A G Y: 941,752 (GRCm39) K1318E probably benign Het
Large1 A T 8: 73,578,872 (GRCm39) Y444* probably null Het
Lhx3 TCCTACGGGCCGGCCC TCC 2: 26,091,435 (GRCm39) probably null Het
Lrrc47 A G 4: 154,096,673 (GRCm39) Q156R probably damaging Het
Lrriq4 T C 3: 30,704,632 (GRCm39) L220P probably damaging Het
Matn2 A G 15: 34,355,814 (GRCm39) D273G possibly damaging Het
Myo18b T A 5: 112,988,644 (GRCm39) I981F probably damaging Het
Or1q1 G A 2: 36,887,469 (GRCm39) probably null Het
Or2n1c A C 17: 38,519,208 (GRCm39) E24A possibly damaging Het
Or5aq1 A G 2: 86,966,554 (GRCm39) I37T probably benign Het
Or6b13 A G 7: 139,782,462 (GRCm39) Y74H probably damaging Het
Or8d6 T C 9: 39,853,694 (GRCm39) V46A probably benign Het
Pkdrej T C 15: 85,700,585 (GRCm39) T1784A probably damaging Het
Ppp3cb A G 14: 20,559,490 (GRCm39) V422A possibly damaging Het
Rlf G A 4: 121,007,564 (GRCm39) T472I probably damaging Het
Scaf11 T C 15: 96,318,313 (GRCm39) E417G probably damaging Het
Shisa2 A T 14: 59,867,263 (GRCm39) T172S possibly damaging Het
Siglec1 T A 2: 130,922,320 (GRCm39) Q585L possibly damaging Het
Sorcs1 A T 19: 50,213,579 (GRCm39) M716K possibly damaging Het
Sparcl1 C T 5: 104,233,629 (GRCm39) M573I probably damaging Het
Stxbp5l C A 16: 36,962,734 (GRCm39) V774F probably benign Het
Tcaf3 A G 6: 42,568,259 (GRCm39) F699S probably damaging Het
Tmem87b T C 2: 128,673,509 (GRCm39) V251A probably damaging Het
Trpc6 T A 9: 8,649,471 (GRCm39) N560K probably benign Het
Trpv4 T A 5: 114,764,981 (GRCm39) I678F probably damaging Het
Ttc3 A T 16: 94,267,793 (GRCm39) H1935L possibly damaging Het
Vmn2r59 T A 7: 41,696,529 (GRCm39) Y71F probably benign Het
Wdfy3 A G 5: 102,003,415 (GRCm39) I2900T probably damaging Het
Zfp184 A G 13: 22,143,799 (GRCm39) T502A possibly damaging Het
Zmym6 A G 4: 127,017,551 (GRCm39) I1019V probably benign Het
Other mutations in Fscb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01095:Fscb APN 12 64,520,155 (GRCm39) missense possibly damaging 0.46
IGL01099:Fscb APN 12 64,518,875 (GRCm39) missense unknown
IGL01394:Fscb APN 12 64,520,578 (GRCm39) missense possibly damaging 0.83
IGL02570:Fscb APN 12 64,518,952 (GRCm39) missense unknown
IGL02974:Fscb APN 12 64,518,299 (GRCm39) missense unknown
IGL03150:Fscb APN 12 64,519,204 (GRCm39) missense unknown
IGL03407:Fscb APN 12 64,520,269 (GRCm39) missense probably damaging 0.96
BB007:Fscb UTSW 12 64,519,337 (GRCm39) missense unknown
BB017:Fscb UTSW 12 64,519,337 (GRCm39) missense unknown
FR4548:Fscb UTSW 12 64,519,339 (GRCm39) missense unknown
FR4548:Fscb UTSW 12 64,519,337 (GRCm39) missense unknown
R0056:Fscb UTSW 12 64,521,021 (GRCm39) missense possibly damaging 0.66
R0490:Fscb UTSW 12 64,519,661 (GRCm39) missense unknown
R0492:Fscb UTSW 12 64,520,292 (GRCm39) missense possibly damaging 0.46
R0702:Fscb UTSW 12 64,518,775 (GRCm39) missense unknown
R1017:Fscb UTSW 12 64,520,242 (GRCm39) missense probably benign 0.07
R1672:Fscb UTSW 12 64,518,292 (GRCm39) missense unknown
R1737:Fscb UTSW 12 64,521,355 (GRCm39) missense possibly damaging 0.83
R1795:Fscb UTSW 12 64,521,175 (GRCm39) missense probably damaging 0.99
R1969:Fscb UTSW 12 64,520,008 (GRCm39) missense unknown
R1984:Fscb UTSW 12 64,521,457 (GRCm39) missense unknown
R2164:Fscb UTSW 12 64,520,567 (GRCm39) missense probably damaging 0.96
R2213:Fscb UTSW 12 64,520,890 (GRCm39) missense possibly damaging 0.84
R2874:Fscb UTSW 12 64,520,210 (GRCm39) missense probably benign 0.00
R2878:Fscb UTSW 12 64,519,348 (GRCm39) missense unknown
R3873:Fscb UTSW 12 64,519,906 (GRCm39) missense unknown
R4734:Fscb UTSW 12 64,521,244 (GRCm39) missense possibly damaging 0.82
R4773:Fscb UTSW 12 64,520,464 (GRCm39) missense probably damaging 1.00
R4940:Fscb UTSW 12 64,520,588 (GRCm39) missense probably benign 0.03
R4981:Fscb UTSW 12 64,520,393 (GRCm39) missense possibly damaging 0.46
R5845:Fscb UTSW 12 64,519,558 (GRCm39) missense unknown
R6049:Fscb UTSW 12 64,521,094 (GRCm39) missense possibly damaging 0.66
R6743:Fscb UTSW 12 64,518,347 (GRCm39) missense unknown
R7026:Fscb UTSW 12 64,518,391 (GRCm39) missense unknown
R7285:Fscb UTSW 12 64,518,323 (GRCm39) missense unknown
R7372:Fscb UTSW 12 64,518,598 (GRCm39) missense unknown
R7400:Fscb UTSW 12 64,518,391 (GRCm39) missense unknown
R7563:Fscb UTSW 12 64,520,059 (GRCm39) missense possibly damaging 0.82
R7748:Fscb UTSW 12 64,521,181 (GRCm39) missense probably benign 0.04
R7759:Fscb UTSW 12 64,520,866 (GRCm39) missense probably benign 0.03
R7930:Fscb UTSW 12 64,519,337 (GRCm39) missense unknown
R8026:Fscb UTSW 12 64,521,049 (GRCm39) missense probably benign 0.12
R8070:Fscb UTSW 12 64,521,382 (GRCm39) missense probably benign 0.04
R8081:Fscb UTSW 12 64,518,802 (GRCm39) missense unknown
R8331:Fscb UTSW 12 64,520,242 (GRCm39) missense probably benign 0.07
R8405:Fscb UTSW 12 64,520,278 (GRCm39) missense possibly damaging 0.82
R8788:Fscb UTSW 12 64,518,395 (GRCm39) missense unknown
R8833:Fscb UTSW 12 64,519,997 (GRCm39) missense unknown
R8997:Fscb UTSW 12 64,520,758 (GRCm39) missense possibly damaging 0.46
R9192:Fscb UTSW 12 64,520,890 (GRCm39) missense possibly damaging 0.49
R9282:Fscb UTSW 12 64,520,097 (GRCm39) missense possibly damaging 0.46
R9437:Fscb UTSW 12 64,519,708 (GRCm39) missense unknown
R9581:Fscb UTSW 12 64,521,122 (GRCm39) missense probably benign 0.16
RF011:Fscb UTSW 12 64,519,768 (GRCm39) small deletion probably benign
RF019:Fscb UTSW 12 64,519,370 (GRCm39) small insertion probably benign
RF038:Fscb UTSW 12 64,519,343 (GRCm39) small insertion probably benign
Z1176:Fscb UTSW 12 64,519,704 (GRCm39) missense unknown
Z1177:Fscb UTSW 12 64,519,402 (GRCm39) missense unknown
Predicted Primers PCR Primer
(F):5'- TCAGATAGTGGAGGTGGAACTTC -3'
(R):5'- TTGCTGAAGAGACATCTGGTAAAG -3'

Sequencing Primer
(F):5'- AGGTGGAACTTCTGCAGGC -3'
(R):5'- GTTCAACATCCTCTGTCTGAAGAGAC -3'
Posted On 2016-07-22