Incidental Mutation 'IGL00515:Fam122a'
ID5678
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam122a
Ensembl Gene ENSMUSG00000074922
Gene Namefamily with sequence similarity 122, member A
Synonyms2900009I07Rik, Gm9849, 2410124L17Rik
Accession Numbers
Is this an essential gene? Possibly non essential (E-score: 0.500) question?
Stock #IGL00515
Quality Score
Status
Chromosome19
Chromosomal Location24476502-24477356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 24476632 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glycine at position 242 (D242G)
Ref Sequence ENSEMBL: ENSMUSP00000097152 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000025800] [ENSMUST00000099556] [ENSMUST00000112673]
Predicted Effect probably benign
Transcript: ENSMUST00000025800
SMART Domains Protein: ENSMUSP00000025800
Gene: ENSMUSG00000024867

DomainStartEndE-ValueType
PIPKc 53 396 1.1e-159 SMART
low complexity region 472 484 N/A INTRINSIC
Predicted Effect probably damaging
Transcript: ENSMUST00000099556
AA Change: D242G

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097152
Gene: ENSMUSG00000074922
AA Change: D242G

DomainStartEndE-ValueType
low complexity region 11 32 N/A INTRINSIC
low complexity region 163 187 N/A INTRINSIC
low complexity region 243 254 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000112673
SMART Domains Protein: ENSMUSP00000108292
Gene: ENSMUSG00000024867

DomainStartEndE-ValueType
PIPKc 53 396 1.1e-159 SMART
low complexity region 420 432 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145829
Predicted Effect noncoding transcript
Transcript: ENSMUST00000156814
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Abhd8 T C 8: 71,457,319 E395G probably damaging Het
Agbl2 T C 2: 90,793,960 V188A possibly damaging Het
Arap3 A G 18: 37,975,926 L1225P probably damaging Het
Btn2a2 A T 13: 23,478,576 N372K probably damaging Het
C4b T C 17: 34,728,891 D1650G probably damaging Het
Dip2b G A 15: 100,174,501 R706Q probably damaging Het
Dscam T A 16: 96,608,065 N1886I possibly damaging Het
Foxp2 A T 6: 15,403,819 H390L probably damaging Het
Galnt5 T C 2: 57,999,068 S227P probably benign Het
Hectd2 A G 19: 36,584,936 T148A probably benign Het
Helz2 C T 2: 181,233,006 W1898* probably null Het
Hmgxb4 C A 8: 75,000,911 P174Q probably damaging Het
Il6st A G 13: 112,481,433 probably null Het
Lef1 A G 3: 131,204,277 R312G probably damaging Het
Mast2 G T 4: 116,311,329 R805S probably benign Het
Naip2 C T 13: 100,154,887 R1181K probably benign Het
Nfatc1 G T 18: 80,667,026 H508Q probably damaging Het
Plekhg4 A G 8: 105,375,738 T76A probably benign Het
Rln1 C T 19: 29,332,014 V122I possibly damaging Het
Slc22a28 T C 19: 8,117,064 I198V probably benign Het
Slco1c1 G A 6: 141,569,482 R702H probably benign Het
Slit1 T A 19: 41,624,501 H860L probably damaging Het
Slk A G 19: 47,642,096 probably benign Het
Stab1 A T 14: 31,159,729 I535N probably benign Het
Tigar A C 6: 127,088,079 M202R probably damaging Het
Tsc22d1 A G 14: 76,418,477 S42G probably damaging Het
Zc3h7a A T 16: 11,137,338 N957K probably damaging Het
Other mutations in Fam122a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01662:Fam122a APN 19 24476584 missense probably benign 0.00
IGL03070:Fam122a APN 19 24476952 missense probably damaging 1.00
R4032:Fam122a UTSW 19 24476742 missense probably benign 0.08
R6164:Fam122a UTSW 19 24477086 missense probably benign 0.00
R7301:Fam122a UTSW 19 24477124 missense probably benign 0.00
R7301:Fam122a UTSW 19 24477346 missense probably damaging 1.00
Z1177:Fam122a UTSW 19 24476803 missense not run
Posted On2012-04-20