Incidental Mutation 'R4301:Fam193b'
ID 322426
Institutional Source Beutler Lab
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Name family with sequence similarity 193, member B
Synonyms IRIZIO
MMRRC Submission 041088-MU
Accession Numbers
Essential gene? Probably non essential (E-score: 0.181) question?
Stock # R4301 (G1)
Quality Score 225
Status Validated
Chromosome 13
Chromosomal Location 55687129-55718920 bp(-) (GRCm39)
Type of Mutation nonsense
DNA Base Change (assembly) G to A at 55690417 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Arginine to Stop codon at position 740 (R740*)
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: R740*
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: R740*

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: ENSMUST00000224249
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224275
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224486
Predicted Effect noncoding transcript
Transcript: ENSMUST00000224572
Predicted Effect probably benign
Transcript: ENSMUST00000225240
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225703
Meta Mutation Damage Score 0.9755 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.7%
  • 10x: 97.4%
  • 20x: 95.5%
Validation Efficiency 100% (43/43)
Allele List at MGI
Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abi3bp T A 16: 56,377,266 (GRCm39) V95D probably damaging Het
Adamtsl2 A G 2: 26,977,295 (GRCm39) D252G probably null Het
Adgra3 T C 5: 50,118,420 (GRCm39) R1043G possibly damaging Het
Atxn7l1 A G 12: 33,417,237 (GRCm39) D562G probably damaging Het
Ccdc70 T C 8: 22,463,228 (GRCm39) V6A possibly damaging Het
Cdc25a T C 9: 109,718,810 (GRCm39) V337A probably benign Het
Chil4 G A 3: 106,111,043 (GRCm39) P284S possibly damaging Het
Crb1 A G 1: 139,176,568 (GRCm39) S472P probably benign Het
Fer G T 17: 64,385,905 (GRCm39) L292F probably damaging Het
Gmppa G A 1: 75,419,140 (GRCm39) R349H possibly damaging Het
Hspa1a T C 17: 35,189,482 (GRCm39) I474V probably benign Het
Kcnh8 GAGACCAACGAGCAGCTGATGCTTCAGA GAGA 17: 53,032,934 (GRCm39) 74 probably benign Het
Lrrc30 A G 17: 67,939,563 (GRCm39) S6P probably damaging Het
Lzts3 A G 2: 130,478,358 (GRCm39) S133P probably damaging Het
Mrtfb T C 16: 13,216,169 (GRCm39) Y294H probably damaging Het
Mtmr12 T A 15: 12,236,106 (GRCm39) F122I possibly damaging Het
Mypn A G 10: 62,954,263 (GRCm39) Y124H probably damaging Het
Nfat5 T C 8: 108,082,327 (GRCm39) probably benign Het
Npr2 T C 4: 43,641,332 (GRCm39) probably null Het
Or5a3 T C 19: 12,400,081 (GRCm39) L136P probably damaging Het
Pgm2 G A 5: 64,261,140 (GRCm39) W51* probably null Het
Phip G A 9: 82,841,766 (GRCm39) R48* probably null Het
Piezo2 T C 18: 63,217,911 (GRCm39) T1075A probably damaging Het
Ppat G T 5: 77,076,348 (GRCm39) probably benign Het
Ppp2r2b T A 18: 43,031,811 (GRCm39) E23D probably null Het
Prickle1 T C 15: 93,406,517 (GRCm39) I169V possibly damaging Het
Rab37 T A 11: 115,049,390 (GRCm39) D95E possibly damaging Het
Sash1 A G 10: 8,627,234 (GRCm39) V50A probably benign Het
Siae C A 9: 37,545,009 (GRCm39) Q335K possibly damaging Het
Snx14 A T 9: 88,292,676 (GRCm39) I217K probably damaging Het
Son A G 16: 91,455,299 (GRCm39) T1349A possibly damaging Het
Sptb A G 12: 76,659,471 (GRCm39) L1143S probably damaging Het
Trim80 T C 11: 115,335,939 (GRCm39) probably null Het
Trpm3 T C 19: 22,964,656 (GRCm39) S1374P probably benign Het
Vldlr C A 19: 27,215,802 (GRCm39) D266E possibly damaging Het
Vmn2r79 A G 7: 86,651,099 (GRCm39) H166R possibly damaging Het
Zbtb10 A T 3: 9,330,220 (GRCm39) Q526L probably damaging Het
Zfr2 T C 10: 81,078,018 (GRCm39) probably benign Het
Zswim8 G A 14: 20,763,977 (GRCm39) R449H possibly damaging Het
Zzef1 T C 11: 72,779,861 (GRCm39) V1878A 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
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
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'- TGGTGACATGGCTCCTTCAC -3'
(R):5'- AGAAGTCAGCCTCCTCCTTG -3'

Sequencing Primer
(F):5'- GCACTTTCCCAGGTGATCG -3'
(R):5'- TCCTCCTTGGGTGAGTGCAC -3'
Posted On 2015-06-20