Incidental Mutation 'R6652:Fam193b'
ID528108
Institutional Source Beutler Lab
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Namefamily with sequence similarity 193, member B
SynonymsIRIZIO
MMRRC Submission
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.406) question?
Stock #R6652 (G1)
Quality Score225.009
Status Validated
Chromosome13
Chromosomal Location55539316-55571120 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 55542790 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 226 (S226P)
Gene Model predicted gene model for transcript(s): [ENSMUST00000021957] [ENSMUST00000225240]
Predicted Effect probably damaging
Transcript: ENSMUST00000021957
AA Change: S720P

PolyPhen 2 Score 0.988 (Sensitivity: 0.73; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: S720P

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: ENSMUST00000224249
AA Change: S226P

PolyPhen 2 Score 0.994 (Sensitivity: 0.69; Specificity: 0.97)
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
Coding Region Coverage
  • 1x: 99.9%
  • 3x: 99.6%
  • 10x: 98.1%
  • 20x: 94.7%
Validation Efficiency 100% (42/42)
Allele List at MGI
Other mutations in this stock
Total: 43 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca14 A G 7: 120,246,941 D605G probably damaging Het
Cfh A T 1: 140,144,068 I294N probably benign Het
Clk3 A G 9: 57,761,795 S49P probably damaging Het
Cmya5 A G 13: 93,092,895 V1895A probably benign Het
Cmya5 T C 13: 93,093,039 D1847G probably damaging Het
Cwf19l1 T C 19: 44,114,699 D359G probably benign Het
Dag1 A T 9: 108,209,090 M284K probably damaging Het
Ergic2 T C 6: 148,189,581 Y211C probably damaging Het
Espnl A C 1: 91,344,699 I594L probably benign Het
Fat2 T A 11: 55,252,262 I4254L probably benign Het
Fhdc1 T C 3: 84,464,324 Y108C probably damaging Het
Fut9 G C 4: 25,620,619 T65S probably benign Het
Gm9507 A T 10: 77,811,659 probably benign Het
Gpt2 G A 8: 85,518,052 E325K probably benign Het
Grap2 A T 15: 80,648,522 N297Y probably damaging Het
Igfn1 A G 1: 135,963,871 F2302S probably damaging Het
Ighv1-81 T A 12: 115,920,431 I67F probably damaging Het
Kidins220 T A 12: 25,010,060 probably null Het
Kti12 T A 4: 108,848,533 S215T probably benign Het
Mc1r G A 8: 123,407,631 G41D probably damaging Het
Mov10l1 A G 15: 88,993,902 Y129C probably damaging Het
Mthfsd A T 8: 121,098,821 L337Q probably damaging Het
Musk C T 4: 58,368,977 A629V probably damaging Het
Nadsyn1 A T 7: 143,811,218 M250K probably benign Het
Ncapd2 G A 6: 125,186,270 H92Y probably benign Het
Olfr1507 C T 14: 52,490,793 R57Q probably benign Het
Olfr220 G A 1: 174,449,061 C146Y probably damaging Het
Plec A T 15: 76,179,774 V2100E probably damaging Het
Prss37 C A 6: 40,519,156 probably benign Het
Sebox A T 11: 78,503,805 E32V probably damaging Het
Senp7 C A 16: 56,123,894 Q194K probably benign Het
Sfxn3 G A 19: 45,049,915 probably null Het
Spg20 G A 3: 55,124,827 E361K probably benign Het
Stn1 T C 19: 47,507,578 T334A probably benign Het
Stoml1 A G 9: 58,256,734 D112G probably damaging Het
Thap2 T A 10: 115,376,536 D28V probably damaging Het
Ubap2 A T 4: 41,196,743 N872K possibly damaging Het
Vezt A G 10: 93,970,279 F757L probably damaging Het
Vmn1r204 T C 13: 22,556,403 I68T probably damaging Het
Wnt10a A G 1: 74,803,454 probably null Het
Yipf7 A G 5: 69,541,161 M1T probably null Het
Zdhhc19 T C 16: 32,497,229 F48S probably damaging Het
Zfp317 C T 9: 19,647,039 T183I probably damaging Het
Other mutations in Fam193b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01116:Fam193b APN 13 55543453 missense probably damaging 1.00
IGL01761:Fam193b APN 13 55549257 missense probably benign 0.04
IGL01916:Fam193b APN 13 55550218 splice site probably benign
IGL03022:Fam193b APN 13 55543662 missense probably damaging 1.00
R0081:Fam193b UTSW 13 55554211 unclassified probably benign
R1170:Fam193b UTSW 13 55541705 missense probably damaging 1.00
R1497:Fam193b UTSW 13 55554434 missense probably damaging 0.99
R2069:Fam193b UTSW 13 55542998 missense probably damaging 1.00
R2517:Fam193b UTSW 13 55542816 missense probably damaging 1.00
R4301:Fam193b UTSW 13 55542604 nonsense probably null
R4720:Fam193b UTSW 13 55543437 missense probably benign 0.17
R4782:Fam193b UTSW 13 55543471 missense probably damaging 1.00
R4959:Fam193b UTSW 13 55543284 missense probably damaging 1.00
R6738:Fam193b UTSW 13 55550361 missense probably benign 0.01
R6822:Fam193b UTSW 13 55541691 unclassified probably benign
X0011:Fam193b UTSW 13 55542630 missense probably damaging 1.00
X0066:Fam193b UTSW 13 55550260 nonsense probably null
Predicted Primers PCR Primer
(F):5'- CTTGAAGTACTCCACCTCTCGG -3'
(R):5'- AGGACCAATTCAGGCTGACAG -3'

Sequencing Primer
(F):5'- AGTACTCCACCTCTCGGTCTGTC -3'
(R):5'- GCCCCAAAACTGACAAGAAGGG -3'
Posted On2018-07-24