Incidental Mutation 'P0015:Fam198b'
ID7565
Institutional Source Beutler Lab
Gene Symbol Fam198b
Ensembl Gene ENSMUSG00000027955
Gene Namefamily with sequence similarity 198, member B
Synonyms2210419I08Rik, 1110032E23Rik, Ened
MMRRC Submission 038268-MU
Accession Numbers

NCBI RefSeq: NM_133187.3; MGI:1915909

Is this an essential gene? Probably non essential (E-score: 0.066) question?
Stock #P0015 (G1)
Quality Score
Status Validated
Chromosome3
Chromosomal Location79884533-79946280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79936608 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Serine at position 14 (L14S)
Ref Sequence ENSEMBL: ENSMUSP00000120603 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029567] [ENSMUST00000118853] [ENSMUST00000145992]
Predicted Effect probably damaging
Transcript: ENSMUST00000029567
AA Change: L378S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: L378S

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:FAM198 202 516 9.1e-156 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000118853
AA Change: L378S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: L378S

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:FAM198 202 516 1.1e-155 PFAM
Predicted Effect probably damaging
Transcript: ENSMUST00000145992
AA Change: L14S

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955
AA Change: L14S

DomainStartEndE-ValueType
Pfam:FAM198 1 51 5.4e-27 PFAM
Meta Mutation Damage Score 0.8441 question?
Coding Region Coverage
  • 1x: 83.8%
  • 3x: 77.7%
  • 10x: 59.1%
  • 20x: 39.9%
Validation Efficiency 82% (537/655)
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 5 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Fam151b C T 13: 92,467,944 probably null Het
Lrp1 A T 10: 127,566,663 I2213N probably damaging Het
Otop1 T C 5: 38,294,559 probably benign Het
Tnfsf14 T C 17: 57,190,815 Y139C probably damaging Het
Zfp143 A G 7: 110,086,111 probably null Het
Other mutations in Fam198b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02952:Fam198b APN 3 79886339 missense probably damaging 1.00
PIT4362001:Fam198b UTSW 3 79886939 missense possibly damaging 0.78
R1519:Fam198b UTSW 3 79941464 missense possibly damaging 0.88
R1723:Fam198b UTSW 3 79936663 missense probably benign
R1782:Fam198b UTSW 3 79886531 missense possibly damaging 0.85
R3040:Fam198b UTSW 3 79887125 missense possibly damaging 0.95
R3840:Fam198b UTSW 3 79908590 missense probably benign 0.32
R4841:Fam198b UTSW 3 79936605 missense probably damaging 1.00
R4842:Fam198b UTSW 3 79936605 missense probably damaging 1.00
R4860:Fam198b UTSW 3 79936674 nonsense probably null
R4860:Fam198b UTSW 3 79936674 nonsense probably null
R5181:Fam198b UTSW 3 79886311 missense probably benign 0.08
R5266:Fam198b UTSW 3 79936603 missense probably damaging 0.96
R6353:Fam198b UTSW 3 79941340 missense probably damaging 1.00
R6698:Fam198b UTSW 3 79936595 missense probably damaging 0.97
R6856:Fam198b UTSW 3 79886141 intron probably benign
R6927:Fam198b UTSW 3 79941462 missense probably damaging 1.00
R7025:Fam198b UTSW 3 79886548 missense probably damaging 1.00
R7189:Fam198b UTSW 3 79886807 nonsense probably null
R7434:Fam198b UTSW 3 79941362 missense probably damaging 1.00
R7557:Fam198b UTSW 3 79886608 nonsense probably null
R7780:Fam198b UTSW 3 79941404 missense probably damaging 1.00
R7891:Fam198b UTSW 3 79886284 missense probably benign 0.00
R7974:Fam198b UTSW 3 79886284 missense probably benign 0.00
Posted On2012-10-04