Incidental Mutation 'IGL01722:Fam198a'
ID105141
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam198a
Ensembl Gene ENSMUSG00000038233
Gene Namefamily with sequence similarity 198, member A
Synonyms
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #IGL01722
Quality Score
Status
Chromosome9
Chromosomal Location121950988-121980209 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 121965083 bp
ZygosityHeterozygous
Amino Acid Change Serine to Asparagine at position 101 (S101N)
Ref Sequence ENSEMBL: ENSMUSP00000150724 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000043011] [ENSMUST00000213773] [ENSMUST00000214536] [ENSMUST00000215990]
Predicted Effect possibly damaging
Transcript: ENSMUST00000043011
AA Change: S101N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
SMART Domains Protein: ENSMUSP00000040221
Gene: ENSMUSG00000038233
AA Change: S101N

DomainStartEndE-ValueType
signal peptide 1 22 N/A INTRINSIC
low complexity region 183 194 N/A INTRINSIC
Pfam:FAM198 220 544 1.3e-150 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000213773
AA Change: S101N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
Predicted Effect possibly damaging
Transcript: ENSMUST00000214536
AA Change: S101N

PolyPhen 2 Score 0.924 (Sensitivity: 0.81; Specificity: 0.94)
Predicted Effect noncoding transcript
Transcript: ENSMUST00000214808
Predicted Effect possibly damaging
Transcript: ENSMUST00000215990
AA Change: S101N

PolyPhen 2 Score 0.759 (Sensitivity: 0.85; Specificity: 0.92)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 29 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acvr1c T A 2: 58,283,549 probably benign Het
Alb G A 5: 90,470,839 probably null Het
Ankrd9 A G 12: 110,977,363 V46A probably damaging Het
Apol11a A T 15: 77,517,107 M265L probably benign Het
Ccdc158 T C 5: 92,662,739 N97D possibly damaging Het
Cobl T G 11: 12,253,987 H823P probably benign Het
Dnaja2 A T 8: 85,553,279 H90Q probably benign Het
Dpagt1 T C 9: 44,327,602 F73S possibly damaging Het
Dph3 C T 14: 32,085,460 E20K possibly damaging Het
Fbxl13 G T 5: 21,490,414 T660K possibly damaging Het
Glt6d1 T C 2: 25,794,419 T192A probably benign Het
Mroh7 C T 4: 106,703,161 V649I probably benign Het
Mta3 T C 17: 83,755,643 Y4H possibly damaging Het
Myh14 A G 7: 44,643,532 L369P probably damaging Het
Olfr1263 T C 2: 90,015,007 C26R probably benign Het
Olfr1385 G T 11: 49,494,966 L144F probably damaging Het
Paxx T C 2: 25,460,265 D110G probably damaging Het
Pcyox1 T G 6: 86,388,753 D493A probably damaging Het
Plk2 A G 13: 110,399,442 E560G probably benign Het
Rnf6 A G 5: 146,210,226 F661L probably benign Het
Sema4a T C 3: 88,438,184 K531E probably benign Het
Svs2 T C 2: 164,237,526 K154E possibly damaging Het
Tbx4 A T 11: 85,911,943 Q242L probably damaging Het
Tgm3 A T 2: 130,044,568 I570F probably damaging Het
Thrap3 A T 4: 126,165,529 M908K possibly damaging Het
Trmo A G 4: 46,386,092 probably null Het
Usp8 T A 2: 126,758,152 L997Q probably damaging Het
Vmn1r202 T C 13: 22,501,720 R176G probably benign Het
Vps52 T A 17: 33,961,615 Y308* probably null Het
Other mutations in Fam198a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00985:Fam198a APN 9 121978335 missense probably damaging 1.00
IGL02733:Fam198a APN 9 121965028 missense probably benign 0.00
R0514:Fam198a UTSW 9 121978352 missense possibly damaging 0.62
R1344:Fam198a UTSW 9 121978386 missense probably damaging 0.98
R1868:Fam198a UTSW 9 121965427 missense possibly damaging 0.71
R2279:Fam198a UTSW 9 121965602 missense probably benign 0.00
R3237:Fam198a UTSW 9 121964869 missense possibly damaging 0.83
R3753:Fam198a UTSW 9 121965833 missense probably damaging 1.00
R4967:Fam198a UTSW 9 121965718 missense probably damaging 1.00
R5192:Fam198a UTSW 9 121965661 missense probably benign
R5196:Fam198a UTSW 9 121965661 missense probably benign
R5560:Fam198a UTSW 9 121978223 missense possibly damaging 0.94
R5588:Fam198a UTSW 9 121965181 nonsense probably null
R5689:Fam198a UTSW 9 121965688 missense probably damaging 1.00
R7017:Fam198a UTSW 9 121965986 critical splice donor site probably null
R7037:Fam198a UTSW 9 121965526 missense possibly damaging 0.61
R7041:Fam198a UTSW 9 121965401 missense probably damaging 0.98
R7045:Fam198a UTSW 9 121965641 missense probably damaging 1.00
R7170:Fam198a UTSW 9 121978235 missense probably damaging 1.00
R7505:Fam198a UTSW 9 121976417 missense probably benign 0.00
R7704:Fam198a UTSW 9 121951085 start gained probably benign
R7751:Fam198a UTSW 9 121964821 missense probably benign 0.01
V1662:Fam198a UTSW 9 121965025 missense probably damaging 0.99
Posted On2014-01-21