Incidental Mutation 'IGL02415:Fam102b'
ID292412
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam102b
Ensembl Gene ENSMUSG00000040339
Gene Namefamily with sequence similarity 102, member B
Synonyms
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.266) question?
Stock #IGL02415
Quality Score
Status
Chromosome3
Chromosomal Location108970997-109027607 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 108980292 bp
ZygosityHeterozygous
Amino Acid Change Tyrosine to Histidine at position 219 (Y219H)
Ref Sequence ENSEMBL: ENSMUSP00000131904 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000046924] [ENSMUST00000171143]
Predicted Effect probably damaging
Transcript: ENSMUST00000046924
AA Change: Y188H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000039751
Gene: ENSMUSG00000040339
AA Change: Y188H

DomainStartEndE-ValueType
Pfam:NT-C2 1 118 7.7e-24 PFAM
low complexity region 230 257 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000171143
AA Change: Y219H

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000131904
Gene: ENSMUSG00000040339
AA Change: Y219H

DomainStartEndE-ValueType
Pfam:NT-C2 3 149 1.3e-31 PFAM
low complexity region 261 288 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 51 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1110059G10Rik T C 9: 122,947,991 D124G probably benign Het
Adamts13 T A 2: 26,989,283 I616N possibly damaging Het
Adamts3 T C 5: 89,706,647 probably null Het
Amy1 T C 3: 113,563,585 I202V probably benign Het
Bdp1 G A 13: 100,089,408 T322I probably damaging Het
Cep295 A G 9: 15,353,020 L110S probably damaging Het
Cep72 T C 13: 74,050,154 D369G probably benign Het
Chd3 A T 11: 69,348,913 probably benign Het
Ckmt2 G A 13: 91,863,340 probably benign Het
Cyp2s1 T C 7: 25,808,137 T296A probably damaging Het
E2f5 T A 3: 14,603,897 V283E probably benign Het
F5 A G 1: 164,191,929 T658A probably damaging Het
Gml A T 15: 74,816,440 Y59* probably null Het
Kmo A T 1: 175,649,323 probably benign Het
Krt25 A T 11: 99,322,572 I107N probably damaging Het
Llgl2 A G 11: 115,853,285 M773V probably damaging Het
Lyst G A 13: 13,660,956 C1741Y probably benign Het
Med12 T C X: 101,281,790 V761A probably damaging Het
Mrpl19 T C 6: 81,963,961 T150A probably benign Het
Muc2 G T 7: 141,751,872 E646* probably null Het
Muc20 T A 16: 32,794,681 T109S unknown Het
Nr2f6 T C 8: 71,374,512 T382A probably benign Het
Nrap A G 19: 56,382,309 I172T probably damaging Het
Olfr1434 A G 19: 12,283,498 Y150C probably benign Het
Olfr911-ps1 T C 9: 38,524,112 C127R probably benign Het
P3h1 A T 4: 119,247,955 Q710L probably benign Het
Parvb A G 15: 84,292,815 H185R probably damaging Het
Pkhd1 A G 1: 20,414,421 I1970T probably damaging Het
Pkhd1 T C 1: 20,522,759 Y1710C probably damaging Het
Plxna2 C A 1: 194,643,964 R69S probably damaging Het
Rad51ap2 A G 12: 11,456,929 N284S possibly damaging Het
Reln T A 5: 21,971,951 S1906C possibly damaging Het
Rln1 T C 19: 29,334,398 R67G probably damaging Het
Shcbp1 C T 8: 4,754,239 V224I possibly damaging Het
Slc13a4 A G 6: 35,283,237 probably null Het
Stx6 A G 1: 155,193,313 E195G possibly damaging Het
Sult2b1 G T 7: 45,742,085 D90E possibly damaging Het
Taok1 A G 11: 77,540,240 probably benign Het
Tbx15 A T 3: 99,352,510 M566L probably benign Het
Tcaf1 C T 6: 42,686,650 A99T probably benign Het
Tcf20 T A 15: 82,853,459 M1264L probably benign Het
Tenm4 G A 7: 96,874,074 V1571M probably damaging Het
Ttc39a A G 4: 109,431,529 probably benign Het
Ubr1 C A 2: 120,970,603 probably benign Het
Ulk1 T C 5: 110,787,621 D926G probably damaging Het
Vmn2r110 T C 17: 20,583,771 I181V probably benign Het
Vmn2r66 G A 7: 85,006,812 T332I probably damaging Het
Wdr1 C A 5: 38,531,110 D161Y probably damaging Het
Wnt7a T C 6: 91,394,557 Y141C probably damaging Het
Xrra1 G A 7: 99,915,943 E573K probably benign Het
Zfp334 G T 2: 165,381,851 Q91K possibly damaging Het
Other mutations in Fam102b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01326:Fam102b APN 3 108979785 missense possibly damaging 0.94
R0362:Fam102b UTSW 3 108980181 missense probably benign 0.37
R0502:Fam102b UTSW 3 108992685 missense probably damaging 1.00
R0505:Fam102b UTSW 3 108980204 missense probably benign 0.00
R0686:Fam102b UTSW 3 108992685 missense probably damaging 1.00
R2568:Fam102b UTSW 3 108978848 missense probably benign 0.09
R3721:Fam102b UTSW 3 108979767 missense probably damaging 1.00
R4466:Fam102b UTSW 3 108979808 missense probably benign 0.31
R4613:Fam102b UTSW 3 109027255 missense probably benign 0.12
R4946:Fam102b UTSW 3 108980228 missense probably benign 0.00
R5182:Fam102b UTSW 3 108985351 missense possibly damaging 0.81
R5831:Fam102b UTSW 3 108992703 missense possibly damaging 0.73
R5930:Fam102b UTSW 3 108980152 missense probably benign 0.00
R7432:Fam102b UTSW 3 109003407 missense probably damaging 0.97
R7601:Fam102b UTSW 3 108988312 missense possibly damaging 0.51
R8309:Fam102b UTSW 3 109027342 start gained probably benign
Posted On2015-04-16