Incidental Mutation 'IGL02952:Fam198b'
ID364954
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam198b
Ensembl Gene ENSMUSG00000027955
Gene Namefamily with sequence similarity 198, member B
Synonyms2210419I08Rik, 1110032E23Rik, Ened
Accession Numbers

NCBI RefSeq: NM_133187.3; MGI:1915909

Is this an essential gene? Probably non essential (E-score: 0.075) question?
Stock #IGL02952
Quality Score
Status
Chromosome3
Chromosomal Location79884533-79946280 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 79886339 bp
ZygosityHeterozygous
Amino Acid Change Leucine to Proline at position 38 (L38P)
Ref Sequence ENSEMBL: ENSMUSP00000114093 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000029567] [ENSMUST00000118853] [ENSMUST00000135021] [ENSMUST00000145992]
Predicted Effect probably damaging
Transcript: ENSMUST00000029567
AA Change: L38P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000029567
Gene: ENSMUSG00000027955
AA Change: L38P

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: L38P

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000114093
Gene: ENSMUSG00000027955
AA Change: L38P

DomainStartEndE-ValueType
transmembrane domain 37 56 N/A INTRINSIC
Pfam:FAM198 202 516 1.1e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000135021
Predicted Effect probably benign
Transcript: ENSMUST00000145992
SMART Domains Protein: ENSMUSP00000120603
Gene: ENSMUSG00000027955

DomainStartEndE-ValueType
Pfam:FAM198 1 51 5.4e-27 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000193204
Predicted Effect noncoding transcript
Transcript: ENSMUST00000195082
Coding Region Coverage
Validation Efficiency
Allele List at MGI

All alleles(2) : Targeted(2)

Other mutations in this stock
Total: 40 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
4933415F23Rik A T 1: 23,101,990 I81N probably damaging Het
A2m A T 6: 121,678,025 D1436V probably damaging Het
Abca7 G T 10: 80,007,408 R1239L probably damaging Het
Acp2 T C 2: 91,208,443 probably benign Het
Adamts4 A G 1: 171,251,348 N179S probably damaging Het
Adgrv1 T C 13: 81,433,636 D4763G probably benign Het
Atp11b T C 3: 35,828,695 V633A probably damaging Het
Cadm2 A T 16: 66,664,452 I342K probably damaging Het
Capn10 T C 1: 92,945,174 S541P probably damaging Het
Ccnf A G 17: 24,231,325 L462P possibly damaging Het
Cdc27 T C 11: 104,517,464 Y546C probably damaging Het
Cep120 G T 18: 53,683,228 probably benign Het
Cetn2 T C X: 72,914,202 probably null Het
Cyp1a1 C T 9: 57,702,710 S469L probably benign Het
Dnah17 G A 11: 118,088,268 T1766I probably benign Het
Doc2g G A 19: 4,006,719 G345D possibly damaging Het
Dock4 T C 12: 40,710,903 probably null Het
Dopey1 T A 9: 86,532,922 probably benign Het
Emilin2 C A 17: 71,280,821 V99F probably damaging Het
Exoc8 A G 8: 124,897,536 S31P probably benign Het
Gm3115 T C 14: 4,084,302 probably benign Het
Gm9742 T A 13: 8,029,894 noncoding transcript Het
Gpr160 T C 3: 30,896,294 Y172H probably benign Het
Ifnk T A 4: 35,152,495 L141Q probably damaging Het
Klhl36 A G 8: 119,870,484 E308G probably benign Het
Lrp1b T C 2: 41,506,703 I450M probably benign Het
Noxa1 T C 2: 25,091,761 Y110C probably damaging Het
Olfr287 T C 15: 98,207,589 Y265C probably damaging Het
Pkd2 A T 5: 104,480,160 T367S possibly damaging Het
Polg2 T C 11: 106,772,713 I385V possibly damaging Het
Prr14l A G 5: 32,835,670 S17P unknown Het
Prss22 C A 17: 23,996,723 C75F probably damaging Het
Ptgs1 A G 2: 36,251,241 K567E probably benign Het
Ptprz1 A G 6: 23,036,926 I1141M probably damaging Het
R3hcc1l A G 19: 42,563,994 K477E probably damaging Het
Riok1 A G 13: 38,048,890 Y194C probably damaging Het
Smr2 T A 5: 88,088,236 C16S possibly damaging Het
Stk25 A T 1: 93,626,076 I187N probably damaging Het
Trhde T C 10: 114,800,573 E243G probably damaging Het
Vmn2r3 T C 3: 64,278,835 E143G probably damaging Het
Other mutations in Fam198b
AlleleSourceChrCoordTypePredicted EffectPPH Score
P0015:Fam198b UTSW 3 79936608 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
Posted On2015-12-18