Incidental Mutation 'R8323:Fam193b'
ID 643942
Institutional Source Beutler Lab
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Name family with sequence similarity 193, member B
Synonyms IRIZIO
MMRRC Submission 067724-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R8323 (G1)
Quality Score 225.009
Status Not validated
Chromosome 13
Chromosomal Location 55687129-55718920 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) A to T at 55702223 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Stop codon at position 51 (C51*)
Ref Sequence ENSEMBL: ENSMUSP00000021957 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021957] [ENSMUST00000225240]
AlphaFold no structure available at present
Predicted Effect probably null
Transcript: ENSMUST00000021957
AA Change: C51*
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: C51*

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 benign
Transcript: ENSMUST00000225240
Coding Region Coverage
  • 1x: 100.0%
  • 3x: 99.9%
  • 10x: 99.5%
  • 20x: 98.3%
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 67 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
A3galt2 T C 4: 128,649,351 (GRCm39) F6S probably benign Het
Braf T C 6: 39,620,058 (GRCm39) T507A possibly damaging Het
Catsperb A C 12: 101,375,658 (GRCm39) H24P probably benign Het
Ccdc57 G T 11: 120,788,750 (GRCm39) Q366K possibly damaging Het
Cep295 G T 9: 15,249,529 (GRCm39) T462K possibly damaging Het
Cep295 T A 9: 15,264,357 (GRCm39) R96S probably damaging Het
Cfap206 C T 4: 34,719,647 (GRCm39) E256K probably benign Het
Cfap251 A G 5: 123,435,588 (GRCm39) N1016S probably benign Het
Cldn13 A G 5: 134,943,828 (GRCm39) V119A probably benign Het
Csmd1 G T 8: 17,266,751 (GRCm39) C58* probably null Het
Csmd3 T C 15: 47,561,547 (GRCm39) Y1343C Het
Dcbld2 T A 16: 58,283,473 (GRCm39) probably null Het
Dnah14 A G 1: 181,532,109 (GRCm39) I2299V probably benign Het
Dsp C T 13: 38,356,806 (GRCm39) H229Y possibly damaging Het
Fbxw10 G A 11: 62,767,506 (GRCm39) V781I probably benign Het
Fdps G T 3: 89,002,696 (GRCm39) P151T possibly damaging Het
Galk2 C T 2: 125,708,298 (GRCm39) H16Y probably benign Het
Gm1110 A G 9: 26,813,719 (GRCm39) probably null Het
Gm3727 C T 14: 7,261,693 (GRCm38) V204I probably benign Het
Gtf2h3 A G 5: 124,720,534 (GRCm39) I13V probably benign Het
H2-T24 T A 17: 36,328,431 (GRCm39) probably null Het
Heatr5a C T 12: 52,002,289 (GRCm39) V216M probably benign Het
Hspg2 C G 4: 137,246,290 (GRCm39) P1023A possibly damaging Het
Igfbp2 C T 1: 72,888,780 (GRCm39) P224S probably damaging Het
Igkv17-127 A G 6: 67,838,498 (GRCm39) I70V possibly damaging Het
Kif11 T A 19: 37,372,692 (GRCm39) F27I possibly damaging Het
Lcor T C 19: 41,572,036 (GRCm39) S264P probably benign Het
Lrrc28 G T 7: 67,245,455 (GRCm39) T137K unknown Het
Lyg1 T A 1: 37,989,018 (GRCm39) R67S probably damaging Het
Ms4a10 G A 19: 10,940,363 (GRCm39) Q255* probably null Het
Myo1h A G 5: 114,480,200 (GRCm39) R512G Het
Nmnat3 T C 9: 98,292,276 (GRCm39) Y174H probably damaging Het
Nrap T C 19: 56,378,255 (GRCm39) I19V probably benign Het
Nsf C A 11: 103,819,665 (GRCm39) V35L probably benign Het
Or1e30 A T 11: 73,677,766 (GRCm39) M1L probably damaging Het
Or2w6 T A 13: 21,843,302 (GRCm39) M64L possibly damaging Het
Osbpl9 A G 4: 108,965,119 (GRCm39) S116P probably benign Het
Pcdhb15 A C 18: 37,608,715 (GRCm39) E649A probably benign Het
Pcdhb8 T A 18: 37,488,476 (GRCm39) D51E probably benign Het
Plcl1 T A 1: 55,736,895 (GRCm39) D745E possibly damaging Het
Prss3 A G 6: 41,351,258 (GRCm39) L165P probably damaging Het
Psme4 T A 11: 30,793,532 (GRCm39) I1211N probably damaging Het
Rb1 A G 14: 73,503,023 (GRCm39) V416A probably benign Het
Rnf111 T A 9: 70,383,204 (GRCm39) Q243L probably benign Het
Sacm1l T C 9: 123,377,987 (GRCm39) V89A probably benign Het
Sardh C T 2: 27,125,576 (GRCm39) D313N probably damaging Het
Scin T C 12: 40,129,681 (GRCm39) I371V probably benign Het
Scn10a C A 9: 119,438,462 (GRCm39) L1801F possibly damaging Het
Sele G A 1: 163,879,207 (GRCm39) V281M possibly damaging Het
Slc17a1 C A 13: 24,071,982 (GRCm39) T400K probably damaging Het
Slc22a28 T A 19: 8,108,788 (GRCm39) D118V probably damaging Het
Slc2a10 T A 2: 165,356,671 (GRCm39) F110L probably benign Het
Slc51a A G 16: 32,295,197 (GRCm39) S294P probably damaging Het
Snapc4 T C 2: 26,254,711 (GRCm39) E1271G probably benign Het
Spata31 C A 13: 65,070,065 (GRCm39) Q738K possibly damaging Het
Spdya A G 17: 71,895,587 (GRCm39) D284G probably benign Het
Tdrd5 T C 1: 156,094,832 (GRCm39) D757G possibly damaging Het
Tmem104 T C 11: 115,134,199 (GRCm39) F245S probably damaging Het
Tmem170 A T 8: 112,603,153 (GRCm39) S39T probably benign Het
Trim24 G T 6: 37,892,233 (GRCm39) probably null Het
Uap1 A G 1: 169,978,635 (GRCm39) V302A probably damaging Het
Vmn2r96 A T 17: 18,803,023 (GRCm39) Y311F probably damaging Het
Wdhd1 A T 14: 47,512,252 (GRCm39) D46E possibly damaging Het
Zdbf2 G A 1: 63,342,073 (GRCm39) V151I possibly damaging Het
Zfp747l1 A T 7: 126,983,621 (GRCm39) C494S possibly damaging Het
Zfp943 A G 17: 22,211,763 (GRCm39) Q283R possibly damaging Het
Zfp944 A T 17: 22,558,235 (GRCm39) D337E probably benign 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
R8547:Fam193b UTSW 13 55,698,117 (GRCm39) missense probably damaging 1.00
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'- CAAAGCTTAGACTCACCAAGGATG -3'
(R):5'- ATGGCCCATGTTCAGAGCTAG -3'

Sequencing Primer
(F):5'- GAGGACTCCCAAGCGAGCTG -3'
(R):5'- GCCCACTGTTCACTGTCACAC -3'
Posted On 2020-09-02