Incidental Mutation 'IGL02074:Fam163b'
ID 185929
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam163b
Ensembl Gene ENSMUSG00000009216
Gene Name family with sequence similarity 163, member B
Synonyms C630035N08Rik
Accession Numbers
Essential gene? Probably non essential (E-score: 0.057) question?
Stock # IGL02074
Quality Score
Status
Chromosome 2
Chromosomal Location 27000391-27032489 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to T at 27003570 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Cysteine to Tyrosine at position 28 (C28Y)
Ref Sequence ENSEMBL: ENSMUSP00000127556 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000091233] [ENSMUST00000151224]
AlphaFold Q8BUM6
Predicted Effect probably benign
Transcript: ENSMUST00000091233
SMART Domains Protein: ENSMUSP00000088774
Gene: ENSMUSG00000036040

DomainStartEndE-ValueType
signal peptide 1 29 N/A INTRINSIC
TSP1 50 106 5.14e-7 SMART
Pfam:ADAM_spacer1 214 331 5.4e-28 PFAM
low complexity region 345 358 N/A INTRINSIC
TSP1 573 629 8.15e-1 SMART
TSP1 631 692 1.85e-2 SMART
TSP1 694 744 4.15e-1 SMART
TSP1 747 796 9.98e-5 SMART
TSP1 803 861 4.95e-2 SMART
TSP1 863 914 2.53e-6 SMART
Pfam:PLAC 922 953 1.4e-12 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000139633
Predicted Effect probably damaging
Transcript: ENSMUST00000151224
AA Change: C28Y

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000127556
Gene: ENSMUSG00000009216
AA Change: C28Y

DomainStartEndE-ValueType
Pfam:FAM163 1 167 1.2e-68 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000169787
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abca5 T C 11: 110,184,176 (GRCm39) S974G probably benign Het
Abi2 T C 1: 60,486,466 (GRCm39) V209A probably damaging Het
Ankrd33b C A 15: 31,297,807 (GRCm39) V317F probably damaging Het
Arcn1 A G 9: 44,670,309 (GRCm39) C106R probably benign Het
Arhgap35 T C 7: 16,296,980 (GRCm39) H695R probably benign Het
Bag4 G T 8: 26,259,383 (GRCm39) T272K possibly damaging Het
Cnot6 T C 11: 49,580,070 (GRCm39) H74R probably benign Het
Csgalnact1 C A 8: 68,854,144 (GRCm39) G219V probably damaging Het
Dab1 C A 4: 104,585,051 (GRCm39) A397D possibly damaging Het
Dhrs7b C A 11: 60,742,580 (GRCm39) Q91K probably benign Het
Dixdc1 C T 9: 50,613,317 (GRCm39) V212M probably benign Het
Dnaaf11 T C 15: 66,361,339 (GRCm39) N54S probably damaging Het
Eea1 A G 10: 95,873,349 (GRCm39) E1137G probably damaging Het
Ercc8 T C 13: 108,295,318 (GRCm39) probably benign Het
Fgd6 A T 10: 93,963,297 (GRCm39) I1132F probably damaging Het
Grin1 C T 2: 25,188,514 (GRCm39) V432I possibly damaging Het
Herc1 A G 9: 66,358,265 (GRCm39) S2449G probably benign Het
Herc2 T A 7: 55,737,192 (GRCm39) probably benign Het
L1cam A G X: 72,906,619 (GRCm39) W275R probably damaging Het
Magi1 A G 6: 93,722,579 (GRCm39) V660A probably damaging Het
Mctp2 A T 7: 71,811,006 (GRCm39) I656K probably damaging Het
Mtcl1 T C 17: 66,673,463 (GRCm39) D633G possibly damaging Het
Nexmif A T X: 103,131,497 (GRCm39) M140K probably damaging Het
Or55b3 G T 7: 102,126,679 (GRCm39) H133N probably benign Het
Or7g33 A T 9: 19,449,148 (GRCm39) I26N possibly damaging Het
Or8d23 A T 9: 38,841,979 (GRCm39) T171S probably benign Het
R3hdm1 A G 1: 128,096,775 (GRCm39) T146A possibly damaging Het
Rnf123 A T 9: 107,944,088 (GRCm39) L508Q probably damaging Het
Scaf4 G T 16: 90,039,808 (GRCm39) P812T unknown Het
Slc45a2 A G 15: 11,000,903 (GRCm39) M1V probably null Het
Ttr T C 18: 20,799,580 (GRCm39) V46A probably benign Het
Ubxn8 T C 8: 34,113,206 (GRCm39) K216R possibly damaging Het
Vmn2r109 T C 17: 20,774,603 (GRCm39) I251V probably benign Het
Xlr A T X: 52,798,101 (GRCm39) probably benign Het
Zfp142 T G 1: 74,609,022 (GRCm39) H1488P probably damaging Het
Other mutations in Fam163b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00944:Fam163b APN 2 27,003,597 (GRCm39) missense probably damaging 1.00
IGL01602:Fam163b APN 2 27,002,688 (GRCm39) missense probably damaging 0.99
IGL01605:Fam163b APN 2 27,002,688 (GRCm39) missense probably damaging 0.99
IGL02582:Fam163b APN 2 27,003,570 (GRCm39) missense probably damaging 1.00
R0238:Fam163b UTSW 2 27,002,646 (GRCm39) missense probably damaging 1.00
R0238:Fam163b UTSW 2 27,002,646 (GRCm39) missense probably damaging 1.00
R0535:Fam163b UTSW 2 27,002,778 (GRCm39) missense probably benign 0.05
R0611:Fam163b UTSW 2 27,003,583 (GRCm39) missense probably damaging 1.00
R1333:Fam163b UTSW 2 27,003,659 (GRCm39) utr 5 prime probably benign
R1768:Fam163b UTSW 2 27,002,874 (GRCm39) missense possibly damaging 0.86
R2437:Fam163b UTSW 2 27,002,698 (GRCm39) missense probably damaging 1.00
R5096:Fam163b UTSW 2 27,002,761 (GRCm39) missense probably benign 0.00
R6277:Fam163b UTSW 2 27,002,763 (GRCm39) missense probably benign 0.45
R7142:Fam163b UTSW 2 27,003,567 (GRCm39) missense probably damaging 1.00
R7648:Fam163b UTSW 2 27,002,752 (GRCm39) missense probably benign 0.00
R8361:Fam163b UTSW 2 27,002,650 (GRCm39) missense probably benign 0.00
R8363:Fam163b UTSW 2 27,002,650 (GRCm39) missense probably benign 0.00
Posted On 2014-05-07