Incidental Mutation 'IGL00965:Fam92b'
ID28063
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam92b
Ensembl Gene ENSMUSG00000042269
Gene Namefamily with sequence similarity 92, member B
Synonyms
Accession Numbers
Is this an essential gene? Probably essential (E-score: 0.791) question?
Stock #IGL00965
Quality Score
Status
Chromosome8
Chromosomal Location120166397-120177466 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 120166690 bp
ZygosityHeterozygous
Amino Acid Change Glutamine to Arginine at position 254 (Q254R)
Ref Sequence ENSEMBL: ENSMUSP00000038825 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000034281] [ENSMUST00000048786] [ENSMUST00000108950] [ENSMUST00000108951] [ENSMUST00000127664]
Predicted Effect probably benign
Transcript: ENSMUST00000034281
SMART Domains Protein: ENSMUSP00000034281
Gene: ENSMUSG00000031824

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000048786
AA Change: Q254R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000038825
Gene: ENSMUSG00000042269
AA Change: Q254R

DomainStartEndE-ValueType
Pfam:FAM92 1 217 4.8e-66 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000108950
SMART Domains Protein: ENSMUSP00000104578
Gene: ENSMUSG00000031824

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000108951
SMART Domains Protein: ENSMUSP00000104579
Gene: ENSMUSG00000031824

DomainStartEndE-ValueType
low complexity region 39 54 N/A INTRINSIC
low complexity region 68 87 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000127664
SMART Domains Protein: ENSMUSP00000118564
Gene: ENSMUSG00000092329

DomainStartEndE-ValueType
Pfam:Glycos_transf_2 104 287 7.4e-31 PFAM
Pfam:Glyco_transf_7C 261 331 4.9e-8 PFAM
RICIN 406 531 9.28e-27 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000153177
Predicted Effect noncoding transcript
Transcript: ENSMUST00000212268
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 30 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acot8 C T 2: 164,804,815 M1I probably null Het
Adam33 T C 2: 131,054,263 probably benign Het
Adgrl1 C T 8: 83,937,703 T1236I probably damaging Het
Ago4 A G 4: 126,493,314 V832A probably benign Het
Ankrd26 G T 6: 118,559,358 Y91* probably null Het
Atp9a C A 2: 168,640,680 V845L probably benign Het
Cfap100 C T 6: 90,415,805 E108K probably benign Het
Chrdl2 T A 7: 100,006,653 probably null Het
Erbb4 A T 1: 68,071,630 L1008* probably null Het
Gm42688 C T 6: 83,103,392 probably benign Het
H2-Eb2 T A 17: 34,325,797 probably null Het
Hmcn2 T C 2: 31,343,096 V219A probably damaging Het
Hsf2 C T 10: 57,512,100 P447S probably damaging Het
Hsph1 A T 5: 149,630,804 I162N probably damaging Het
Ick A G 9: 78,164,539 I498V probably benign Het
Il12rb2 T C 6: 67,360,577 T107A probably damaging Het
Lnx1 T A 5: 74,685,717 N24I probably benign Het
Mgat3 C A 15: 80,212,433 A487D probably damaging Het
Olfr1416 T C 1: 92,480,024 D199G probably damaging Het
Olfr1564 C T 17: 33,215,973 V124M probably benign Het
Olfr629 T A 7: 103,740,965 I92F probably benign Het
Olfr808 T A 10: 129,767,586 L30Q probably null Het
Ppargc1b A G 18: 61,323,164 Y75H probably damaging Het
Rgl2 G T 17: 33,935,936 C638F probably benign Het
Rhpn1 C A 15: 75,711,886 R407S probably damaging Het
Sipa1l2 A G 8: 125,447,874 S1222P probably benign Het
Tango6 T A 8: 106,742,010 probably benign Het
Tonsl G A 15: 76,631,880 probably benign Het
Vmn1r77 G A 7: 12,041,296 probably null Het
Vmn2r13 A C 5: 109,156,098 F822L probably damaging Het
Other mutations in Fam92b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02045:Fam92b APN 8 120169722 nonsense probably null
IGL02437:Fam92b APN 8 120174786 missense probably damaging 1.00
IGL02796:Fam92b UTSW 8 120177399 utr 5 prime probably benign
R1061:Fam92b UTSW 8 120169704 critical splice donor site probably null
R2285:Fam92b UTSW 8 120168537 missense probably benign 0.01
R3714:Fam92b UTSW 8 120174837 missense probably damaging 1.00
R3831:Fam92b UTSW 8 120174894 missense probably damaging 1.00
R4432:Fam92b UTSW 8 120174855 missense probably damaging 1.00
R5431:Fam92b UTSW 8 120167303 critical splice donor site probably null
R6280:Fam92b UTSW 8 120172119 missense possibly damaging 0.75
R7026:Fam92b UTSW 8 120168585 missense probably damaging 1.00
R7233:Fam92b UTSW 8 120171922 missense probably damaging 1.00
R7278:Fam92b UTSW 8 120168603 missense possibly damaging 0.63
R7334:Fam92b UTSW 8 120174850 missense probably damaging 0.99
R7840:Fam92b UTSW 8 120166633 missense probably benign 0.32
R7923:Fam92b UTSW 8 120166633 missense probably benign 0.32
Posted On2013-04-17