Incidental Mutation 'R8547:Fam193b'
ID 659708
Institutional Source Beutler Lab
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Name family with sequence similarity 193, member B
Synonyms IRIZIO
MMRRC Submission 068512-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R8547 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 55687129-55718920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 55698117 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Serine to Proline at position 280 (S280P)
Ref Sequence ENSEMBL: ENSMUSP00000021957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021957] [ENSMUST00000225240]
AlphaFold no structure available at present
Predicted Effect probably damaging
Transcript: ENSMUST00000021957
AA Change: S280P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: S280P

DomainStartEndE-ValueType
low complexity region 55 71 N/A INTRINSIC
low complexity region 133 144 N/A INTRINSIC
low complexity region 161 174 N/A INTRINSIC
low complexity region 198 242 N/A INTRINSIC
low complexity region 260 286 N/A INTRINSIC
coiled coil region 371 404 N/A INTRINSIC
low complexity region 566 573 N/A INTRINSIC
low complexity region 622 635 N/A INTRINSIC
low complexity region 641 657 N/A INTRINSIC
Pfam:FAM193_C 722 776 9.6e-32 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000225240
AA Change: S64P

PolyPhen 2 Score 0.958 (Sensitivity: 0.78; Specificity: 0.95)
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.6%
  • 20x: 98.8%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 53 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca3 T C 17: 24,616,474 (GRCm39) V972A probably benign Het
Adamts14 T G 10: 61,106,998 (GRCm39) T41P probably damaging Het
Adamtsl3 C T 7: 82,077,621 (GRCm39) T102I probably damaging Het
Ago3 T C 4: 126,264,109 (GRCm39) I366V probably null Het
Aldh1a7 A G 19: 20,692,067 (GRCm39) V242A possibly damaging Het
Asxl3 T C 18: 22,655,829 (GRCm39) S1280P probably benign Het
Caprin1 G T 2: 103,599,862 (GRCm39) N604K probably damaging Het
Catsperb T C 12: 101,412,305 (GRCm39) W131R probably damaging Het
Ccdc18 A G 5: 108,345,725 (GRCm39) E957G probably damaging Het
Ccn6 T A 10: 39,027,194 (GRCm39) D346V probably damaging Het
Cd28 G A 1: 60,785,681 (GRCm39) V17I probably benign Het
Cfl2 A T 12: 54,908,398 (GRCm39) L75* probably null Het
Clspn T A 4: 126,455,609 (GRCm39) L45H probably damaging Het
Col4a2 A G 8: 11,479,305 (GRCm39) probably null Het
Cracd GCGCGAGGCCGAGAGGCAGGAGGAGGAAGCAAGACAACGCGAGGCCGAGAGGCAGG GCGCGAGGCCGAGAGGCAGG 5: 77,004,801 (GRCm39) probably benign Het
Dgka A T 10: 128,556,881 (GRCm39) I663N probably damaging Het
Eppk1 C T 15: 75,993,249 (GRCm39) V1211I probably benign Het
Fgd2 C T 17: 29,583,934 (GRCm39) A116V probably damaging Het
Fmo5 C A 3: 97,558,811 (GRCm39) Q424K probably benign Het
Fn3k T C 11: 121,340,987 (GRCm39) L214P probably damaging Het
Gm3404 A T 5: 146,465,108 (GRCm39) R283W possibly damaging Het
Gtdc1 A G 2: 44,678,993 (GRCm39) probably benign Het
Hepacam T C 9: 37,279,049 (GRCm39) I26T probably benign Het
Hltf T C 3: 20,152,291 (GRCm39) F596L probably damaging Het
Ipo7 T G 7: 109,652,000 (GRCm39) D926E probably benign Het
Krt16 G A 11: 100,137,083 (GRCm39) Q463* probably null Het
Lats1 T C 10: 7,588,613 (GRCm39) F1077L probably damaging Het
Lrrc69 T C 4: 14,704,014 (GRCm39) I269V probably benign Het
Mcm6 C T 1: 128,273,685 (GRCm39) E382K possibly damaging Het
Npbwr1 A T 1: 5,987,446 (GRCm39) C23S possibly damaging Het
Nsd3 T C 8: 26,184,811 (GRCm39) C962R probably damaging Het
Nufip2 T C 11: 77,583,391 (GRCm39) L435P probably damaging Het
Or10d4c C T 9: 39,558,798 (GRCm39) Q259* probably null Het
Or1e23 T C 11: 73,407,440 (GRCm39) N195S probably damaging Het
Potegl A T 2: 23,120,135 (GRCm39) Y177F probably damaging Het
Psen1 T C 12: 83,761,630 (GRCm39) V144A possibly damaging Het
Psmg2 T A 18: 67,779,077 (GRCm39) S82T possibly damaging Het
Ptcd2 A C 13: 99,469,462 (GRCm39) F154V probably damaging Het
Ptchd4 A C 17: 42,813,512 (GRCm39) D471A probably benign Het
Robo4 C T 9: 37,315,674 (GRCm39) T309I possibly damaging Het
Runx3 T C 4: 134,898,455 (GRCm39) F209L probably damaging Het
Setd1a T C 7: 127,395,676 (GRCm39) probably benign Het
Slc35g3 T C 11: 69,652,446 (GRCm39) E22G probably benign Het
Spag9 T A 11: 94,013,647 (GRCm39) M1303K possibly damaging Het
Ssh2 T A 11: 77,340,533 (GRCm39) S562T probably benign Het
Tiparp T C 3: 65,453,798 (GRCm39) probably null Het
Topbp1 C T 9: 103,213,264 (GRCm39) P1028L probably benign Het
Unc45a A T 7: 79,975,840 (GRCm39) L833Q possibly damaging Het
Vmn2r85 T C 10: 130,261,311 (GRCm39) Y342C probably damaging Het
Vmn2r95 G A 17: 18,664,161 (GRCm39) C460Y probably damaging Het
Vps13c T A 9: 67,852,848 (GRCm39) I2376N probably damaging Het
Zbtb21 C A 16: 97,753,315 (GRCm39) A351S possibly damaging Het
Zzef1 T G 11: 72,735,267 (GRCm39) Y623D probably damaging Het
Other mutations in Fam193b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Fam193b APN 13 55,691,266 (GRCm39) missense probably damaging 1.00
IGL01761:Fam193b APN 13 55,697,070 (GRCm39) missense probably benign 0.04
IGL01916:Fam193b APN 13 55,698,031 (GRCm39) splice site probably benign
IGL03022:Fam193b APN 13 55,691,475 (GRCm39) missense probably damaging 1.00
G1citation:Fam193b UTSW 13 55,689,504 (GRCm39) unclassified probably benign
R0081:Fam193b UTSW 13 55,702,024 (GRCm39) unclassified probably benign
R1170:Fam193b UTSW 13 55,689,518 (GRCm39) missense probably damaging 1.00
R1497:Fam193b UTSW 13 55,702,247 (GRCm39) missense probably damaging 0.99
R2069:Fam193b UTSW 13 55,690,811 (GRCm39) missense probably damaging 1.00
R2517:Fam193b UTSW 13 55,690,629 (GRCm39) missense probably damaging 1.00
R4301:Fam193b UTSW 13 55,690,417 (GRCm39) nonsense probably null
R4720:Fam193b UTSW 13 55,691,250 (GRCm39) missense probably benign 0.17
R4782:Fam193b UTSW 13 55,691,284 (GRCm39) missense probably damaging 1.00
R4959:Fam193b UTSW 13 55,691,097 (GRCm39) missense probably damaging 1.00
R6652:Fam193b UTSW 13 55,690,603 (GRCm39) missense probably damaging 0.99
R6738:Fam193b UTSW 13 55,698,174 (GRCm39) missense probably benign 0.01
R6822:Fam193b UTSW 13 55,689,504 (GRCm39) unclassified probably benign
R7380:Fam193b UTSW 13 55,690,612 (GRCm39) missense probably benign 0.00
R8323:Fam193b UTSW 13 55,702,223 (GRCm39) nonsense probably null
X0011:Fam193b UTSW 13 55,690,443 (GRCm39) missense probably damaging 1.00
X0066:Fam193b UTSW 13 55,698,073 (GRCm39) nonsense probably null
Predicted Primers PCR Primer
(F):5'- GACCTCACAAATGTGCCTCC -3'
(R):5'- GGATACTTTTCTAGGCTCCTGC -3'

Sequencing Primer
(F):5'- ACGTTGTTGCCAGGACTCTGAC -3'
(R):5'- AGGCTCCTGCTATATATTCTGTG -3'
Posted On 2021-01-18