Incidental Mutation 'IGL01366:Fam160b2'
ID75940
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam160b2
Ensembl Gene ENSMUSG00000022095
Gene Namefamily with sequence similarity 160, member B2
SynonymsRai16, G430067P06Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.103) question?
Stock #IGL01366
Quality Score
Status
Chromosome14
Chromosomal Location70583296-70599835 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 70585373 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Cysteine at position 688 (R688C)
Ref Sequence ENSEMBL: ENSMUSP00000022690 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000022690] [ENSMUST00000089049] [ENSMUST00000228554]
Predicted Effect probably damaging
Transcript: ENSMUST00000022690
AA Change: R688C

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000022690
Gene: ENSMUSG00000022095
AA Change: R688C

DomainStartEndE-ValueType
Pfam:RAI16-like 79 477 7.7e-112 PFAM
low complexity region 516 528 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000089049
SMART Domains Protein: ENSMUSP00000086450
Gene: ENSMUSG00000045211

DomainStartEndE-ValueType
low complexity region 2 21 N/A INTRINSIC
Pfam:NUDIX 44 165 2.5e-18 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228554
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 36 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
2310002L09Rik A T 4: 73,950,700 probably benign Het
Adamts2 T C 11: 50,796,468 Y1041H probably damaging Het
Adck5 A C 15: 76,595,616 *568C probably null Het
AK157302 T A 13: 21,495,301 probably benign Het
Bmpr2 G T 1: 59,813,677 G56W probably damaging Het
Capn11 A C 17: 45,653,200 I146S probably damaging Het
Ccdc162 A T 10: 41,580,306 D1613E possibly damaging Het
Ccdc167 T C 17: 29,705,312 E50G probably damaging Het
Col5a2 G T 1: 45,391,888 P864Q possibly damaging Het
Col7a1 C T 9: 108,977,119 probably benign Het
Crebbp T A 16: 4,126,506 H556L probably damaging Het
Dcpp1 T A 17: 23,882,736 I153N possibly damaging Het
Dgke C T 11: 89,055,386 R196H probably benign Het
Efr3a T A 15: 65,851,150 I459K probably benign Het
Espl1 T A 15: 102,319,836 C1682S probably benign Het
Exosc3 C T 4: 45,317,747 R185H probably damaging Het
Fgd6 T C 10: 94,043,476 V64A possibly damaging Het
Gata3 A G 2: 9,877,465 L42P probably damaging Het
Ggta1 C A 2: 35,402,450 E282* probably null Het
Ghr T C 15: 3,320,187 D503G probably damaging Het
Gls C T 1: 52,168,399 G602D probably damaging Het
Gm2058 A G 7: 39,589,234 noncoding transcript Het
Grb7 T C 11: 98,452,274 probably benign Het
Ifngr1 A T 10: 19,609,600 H449L probably damaging Het
Ighg2b T G 12: 113,307,036 D158A possibly damaging Het
Nphs2 T C 1: 156,311,035 V83A probably benign Het
Parp6 T A 9: 59,636,713 M390K possibly damaging Het
Pask T C 1: 93,310,852 K1304E probably benign Het
Scai A G 2: 39,106,961 S274P probably benign Het
Sik2 A G 9: 50,907,463 S404P probably damaging Het
Slc7a8 A T 14: 54,781,188 I47N probably damaging Het
Tas2r113 A T 6: 132,893,797 I263F probably benign Het
Tdrd1 T A 19: 56,855,302 D737E probably benign Het
Trio T C 15: 27,732,868 T2976A possibly damaging Het
Ttc28 T C 5: 111,085,171 probably null Het
Vmn1r21 A G 6: 57,843,814 I215T probably benign Het
Other mutations in Fam160b2
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01862:Fam160b2 APN 14 70587690 missense probably benign 0.03
IGL02306:Fam160b2 APN 14 70588997 missense probably benign
IGL02534:Fam160b2 APN 14 70585688 missense probably damaging 0.98
IGL02534:Fam160b2 APN 14 70586190 missense probably benign
IGL03071:Fam160b2 APN 14 70586209 missense probably damaging 1.00
IGL03162:Fam160b2 APN 14 70587554 missense probably damaging 1.00
IGL03166:Fam160b2 APN 14 70590176 missense probably damaging 1.00
IGL03134:Fam160b2 UTSW 14 70588709 missense possibly damaging 0.66
R0043:Fam160b2 UTSW 14 70588661 missense probably benign 0.45
R0628:Fam160b2 UTSW 14 70587721 missense possibly damaging 0.48
R0691:Fam160b2 UTSW 14 70588287 missense probably damaging 1.00
R1680:Fam160b2 UTSW 14 70586851 missense probably damaging 1.00
R1727:Fam160b2 UTSW 14 70593998 missense probably damaging 0.98
R2059:Fam160b2 UTSW 14 70585049 missense possibly damaging 0.54
R2362:Fam160b2 UTSW 14 70586365 missense probably benign 0.18
R3423:Fam160b2 UTSW 14 70586585 missense probably damaging 1.00
R4233:Fam160b2 UTSW 14 70586878 missense probably damaging 0.99
R4770:Fam160b2 UTSW 14 70588287 missense probably damaging 1.00
R5903:Fam160b2 UTSW 14 70591681 missense probably damaging 1.00
R6217:Fam160b2 UTSW 14 70591758 splice site probably null
R6665:Fam160b2 UTSW 14 70585638 missense probably damaging 1.00
R7424:Fam160b2 UTSW 14 70594007 missense probably damaging 1.00
Z1176:Fam160b2 UTSW 14 70586204 missense not run
Z1177:Fam160b2 UTSW 14 70586204 missense not run
Posted On2013-10-07