Incidental Mutation 'IGL00823:Fam122b'
ID10622
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam122b
Ensembl Gene ENSMUSG00000036022
Gene Namefamily with sequence similarity 122, member B
Synonyms4632404H22Rik
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.074) question?
Stock #IGL00823
Quality Score
Status
ChromosomeX
Chromosomal Location53243415-53269805 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 53245331 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Serine at position 222 (C222S)
Ref Sequence ENSEMBL: ENSMUSP00000110490 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000071023] [ENSMUST00000114838] [ENSMUST00000114841]
Predicted Effect probably benign
Transcript: ENSMUST00000071023
SMART Domains Protein: ENSMUSP00000069112
Gene: ENSMUSG00000036022

DomainStartEndE-ValueType
low complexity region 83 98 N/A INTRINSIC
low complexity region 207 227 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000114838
SMART Domains Protein: ENSMUSP00000110487
Gene: ENSMUSG00000036022

DomainStartEndE-ValueType
low complexity region 83 98 N/A INTRINSIC
low complexity region 206 226 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000114841
AA Change: C222S

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)
SMART Domains Protein: ENSMUSP00000110490
Gene: ENSMUSG00000036022
AA Change: C222S

DomainStartEndE-ValueType
low complexity region 83 98 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000143069
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Male chimeras hemizygous for a gene trapped allele appear phenotypically normal at E9.5. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 41 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aasdh T C 5: 76,878,534 probably benign Het
Adam5 T C 8: 24,818,742 E39G probably benign Het
Anapc7 G A 5: 122,433,477 W205* probably null Het
Arhgap5 C T 12: 52,518,742 T832I possibly damaging Het
Arhgef10 T A 8: 14,940,378 probably benign Het
Atg5 A G 10: 44,363,044 T274A probably benign Het
Baiap2l2 G T 15: 79,284,565 probably benign Het
Brap T A 5: 121,665,227 M146K probably damaging Het
Brpf1 T C 6: 113,321,886 S1074P probably benign Het
Camta1 A C 4: 151,084,601 I231R probably benign Het
Ccdc15 C T 9: 37,320,413 G205D probably benign Het
Cd6 G T 19: 10,796,394 probably benign Het
Cdh17 T G 4: 11,783,412 S219R possibly damaging Het
Cgn G A 3: 94,767,209 R873W probably damaging Het
Ctnna3 C T 10: 63,537,543 P41L possibly damaging Het
Dmbt1 T C 7: 131,058,158 W484R probably benign Het
Dmd A G X: 84,425,813 probably null Het
Dnah17 C T 11: 118,047,161 V3347I probably benign Het
Fgd5 T A 6: 91,988,459 S400T possibly damaging Het
Kitl C A 10: 100,087,344 probably benign Het
Lamc3 A T 2: 31,918,521 D763V probably damaging Het
Lgmn T C 12: 102,398,176 probably benign Het
Lpcat2 T G 8: 92,864,970 W81G possibly damaging Het
Myh13 A G 11: 67,355,947 I1165V probably benign Het
Nf1 A G 11: 79,565,517 D599G probably damaging Het
Nin T C 12: 70,014,793 N2099S probably benign Het
Nlrc4 T C 17: 74,447,990 D77G probably benign Het
Otub1 A G 19: 7,204,051 probably benign Het
Pah A G 10: 87,570,331 Y174C probably null Het
Papd4 T C 13: 93,186,397 T15A probably benign Het
Rbbp5 G A 1: 132,489,706 V88I probably damaging Het
Scn1a C T 2: 66,324,935 R560H probably benign Het
Snx5 T C 2: 144,255,565 I217V probably benign Het
Syne2 T C 12: 75,989,242 S3769P probably damaging Het
Tmem255b T C 8: 13,457,054 M261T probably benign Het
Top3b T C 16: 16,887,622 I417T probably damaging Het
Tspan2 T C 3: 102,758,233 probably null Het
Ttn T C 2: 76,709,713 T34310A possibly damaging Het
Ush2a G A 1: 188,911,443 C4334Y possibly damaging Het
Wdpcp A G 11: 21,659,995 D21G probably damaging Het
Yy2 A C X: 157,568,211 D186E probably benign Het
Other mutations in Fam122b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01397:Fam122b APN X 53260211 missense probably damaging 1.00
R1416:Fam122b UTSW X 53246146 makesense probably null
R1854:Fam122b UTSW X 53254056 missense probably benign 0.01
R1855:Fam122b UTSW X 53254056 missense probably benign 0.01
R4558:Fam122b UTSW X 53260677 splice site probably benign
R4559:Fam122b UTSW X 53260677 splice site probably benign
Posted On2012-12-06