Incidental Mutation 'IGL03022:Fam193b'
ID 408022
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam193b
Ensembl Gene ENSMUSG00000021495
Gene Name family with sequence similarity 193, member B
Synonyms IRIZIO
Accession Numbers
Essential gene? Probably non essential (E-score: 0.152) question?
Stock # IGL03022
Quality Score
Status
Chromosome 13
Chromosomal Location 55687129-55718920 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 55691475 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Asparagine to Serine at position 429 (N429S)
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: N429S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000021957
Gene: ENSMUSG00000021495
AA Change: N429S

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
AA Change: N133S

PolyPhen 2 Score 0.377 (Sensitivity: 0.90; Specificity: 0.89)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000225703
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr2b G T 9: 119,256,587 (GRCm39) R40L probably benign Het
Asph T C 4: 9,517,668 (GRCm39) N402D possibly damaging Het
Brip1 T C 11: 85,968,776 (GRCm39) Y803C probably damaging Het
Cenpc1 T C 5: 86,170,234 (GRCm39) probably benign Het
Dynlt5 A G 4: 102,859,714 (GRCm39) T85A probably benign Het
Fam110b A G 4: 5,799,448 (GRCm39) M289V probably benign Het
Folh1 T C 7: 86,395,379 (GRCm39) Y351C possibly damaging Het
Fryl G A 5: 73,216,726 (GRCm39) A2188V possibly damaging Het
Gtf2f1 C T 17: 57,317,971 (GRCm39) probably null Het
Gucy1a1 T C 3: 82,016,404 (GRCm39) K195E probably benign Het
H2-Oa T C 17: 34,313,023 (GRCm39) V100A probably damaging Het
Kcnu1 A T 8: 26,427,614 (GRCm39) K310N probably damaging Het
Mtss1 A G 15: 58,825,439 (GRCm39) S254P probably damaging Het
N4bp2l2 A G 5: 150,566,761 (GRCm39) S516P probably benign Het
Nrcam A G 12: 44,645,225 (GRCm39) D1139G probably damaging Het
Nxpe4 T C 9: 48,304,548 (GRCm39) S212P probably damaging Het
Or1ab2 A C 8: 72,863,968 (GRCm39) K186T probably damaging Het
Or5d47 C T 2: 87,804,341 (GRCm39) V223I probably benign Het
Or5p52 A T 7: 107,502,188 (GRCm39) H88L probably benign Het
Parp2 T C 14: 51,058,553 (GRCm39) Y528H probably damaging Het
Pdgfd T C 9: 6,288,495 (GRCm39) Y50H probably damaging Het
Prkaca A G 8: 84,721,976 (GRCm39) D329G possibly damaging Het
Rbbp8 A G 18: 11,858,559 (GRCm39) probably benign Het
Sele A G 1: 163,882,248 (GRCm39) T578A probably benign Het
Shroom2 A G X: 151,443,089 (GRCm39) V692A probably benign Het
Stxbp3 G A 3: 108,708,072 (GRCm39) L410F probably damaging Het
Tcaf1 C A 6: 42,655,060 (GRCm39) G553* probably null Het
Ttn G A 2: 76,576,862 (GRCm39) T24677M probably damaging Het
Vmn2r24 T A 6: 123,755,967 (GRCm39) L13H probably damaging Het
Zfp106 C A 2: 120,359,120 (GRCm39) probably benign Het
Zfp616 A G 11: 73,973,800 (GRCm39) D23G possibly damaging Het
Zfp84 T C 7: 29,474,759 (GRCm39) 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
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
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
Posted On 2016-08-02