Incidental Mutation 'IGL01070:Fam178b'
ID50195
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam178b
Ensembl Gene ENSMUSG00000046337
Gene Namefamily with sequence similarity 178, member B
Synonyms1700024G10Rik, LOC381337
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.063) question?
Stock #IGL01070
Quality Score
Status
Chromosome1
Chromosomal Location36562692-36683183 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) C to T at 36564403 bp
ZygosityHeterozygous
Amino Acid Change Arginine to Glutamine at position 489 (R489Q)
Ref Sequence ENSEMBL: ENSMUSP00000132846 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000170295]
Predicted Effect noncoding transcript
Transcript: ENSMUST00000149224
Predicted Effect possibly damaging
Transcript: ENSMUST00000170295
AA Change: R489Q

PolyPhen 2 Score 0.897 (Sensitivity: 0.82; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000132846
Gene: ENSMUSG00000046337
AA Change: R489Q

DomainStartEndE-ValueType
low complexity region 22 31 N/A INTRINSIC
low complexity region 33 44 N/A INTRINSIC
Pfam:FAM178 86 385 1e-130 PFAM
low complexity region 395 410 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193155
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193548
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193763
Predicted Effect unknown
Transcript: ENSMUST00000194025
AA Change: G92R
Predicted Effect noncoding transcript
Transcript: ENSMUST00000194426
Predicted Effect probably benign
Transcript: ENSMUST00000194839
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 35 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110038F14Rik G A 15: 76,950,275 V124I probably damaging Het
Adamts5 T C 16: 85,863,133 H757R probably damaging Het
Aen G A 7: 78,907,302 M299I probably damaging Het
Akap3 A T 6: 126,865,879 E487V possibly damaging Het
Bicd2 T C 13: 49,378,316 S271P probably damaging Het
Cfap206 C T 4: 34,721,562 S162N probably damaging Het
Cma1 A G 14: 55,942,697 S71P probably benign Het
Cspp1 T C 1: 10,088,145 Y494H probably damaging Het
Cyp39a1 A G 17: 43,683,022 K191R probably benign Het
Efr3a G A 15: 65,853,078 V507I probably benign Het
Kcnj4 A G 15: 79,484,579 L400P probably benign Het
Kif27 A G 13: 58,344,093 Y411H probably damaging Het
Mstn A T 1: 53,061,997 I78L possibly damaging Het
Nrap T C 19: 56,329,084 D1377G probably damaging Het
Pramel5 T G 4: 144,271,272 Y467S probably damaging Het
Prkg1 G A 19: 30,569,343 probably benign Het
Rbfox1 A C 16: 7,306,443 S219R possibly damaging Het
Rfng T C 11: 120,783,952 N71D probably damaging Het
Rp1 T C 1: 4,345,238 I1884V probably damaging Het
Rptn T A 3: 93,398,176 Y939N possibly damaging Het
Sart1 A G 19: 5,383,951 V322A probably benign Het
Shank3 T C 15: 89,549,416 S1455P probably damaging Het
Smc5 T A 19: 23,231,601 R703W possibly damaging Het
Sptan1 G A 2: 30,014,173 probably null Het
Tecta T C 9: 42,395,003 D43G probably damaging Het
Tmem67 A T 4: 12,054,750 M685K probably benign Het
Trac A G 14: 54,220,766 T82A probably benign Het
Trank1 A G 9: 111,366,793 N1295S probably damaging Het
Ttc36 T C 9: 44,801,590 probably null Het
Utp18 A T 11: 93,869,848 S384T possibly damaging Het
Vmn1r64 C A 7: 5,883,942 A201S probably benign Het
Vmn2r26 A T 6: 124,061,607 I714F probably benign Het
Vps54 T A 11: 21,312,268 V626D probably damaging Het
Wapl T C 14: 34,745,622 probably benign Het
Yars2 C T 16: 16,306,542 R338* probably null Het
Other mutations in Fam178b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01128:Fam178b APN 1 36644354 missense probably damaging 1.00
IGL01859:Fam178b APN 1 36659365 missense probably damaging 1.00
R0398:Fam178b UTSW 1 36632406 splice site probably benign
R1116:Fam178b UTSW 1 36578588 nonsense probably null
R1613:Fam178b UTSW 1 36600192 missense probably benign 0.01
R1623:Fam178b UTSW 1 36644324 missense probably damaging 1.00
R2276:Fam178b UTSW 1 36632458 missense probably damaging 1.00
R3706:Fam178b UTSW 1 36608448 missense probably damaging 1.00
R4535:Fam178b UTSW 1 36600525 missense probably benign 0.43
R4784:Fam178b UTSW 1 36632415 splice site probably null
R5372:Fam178b UTSW 1 36564848 missense possibly damaging 0.95
R5431:Fam178b UTSW 1 36632485 missense probably damaging 1.00
R6808:Fam178b UTSW 1 36600135 missense probably damaging 1.00
R7117:Fam178b UTSW 1 36600467 missense probably benign 0.04
R7308:Fam178b UTSW 1 36659407 missense probably benign
R7573:Fam178b UTSW 1 36632452 missense probably damaging 1.00
R7678:Fam178b UTSW 1 36564451 missense probably damaging 1.00
Posted On2013-06-21