Incidental Mutation 'IGL03070:Fam122a'
ID417479
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 #IGL03070
Quality Score
Status
Chromosome19
Chromosomal Location24476502-24477356 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to C at 24476952 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 135 (D135E)
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: D135E

PolyPhen 2 Score 1.000 (Sensitivity: 0.00; Specificity: 1.00)
SMART Domains Protein: ENSMUSP00000097152
Gene: ENSMUSG00000074922
AA Change: D135E

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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1190007I07Rik A T 10: 82,620,116 probably benign Het
Adam3 T C 8: 24,703,784 E404G probably damaging Het
Arid1a A G 4: 133,694,753 S778P unknown Het
Asah2 A T 19: 32,006,344 Y567N probably damaging Het
Crb1 G T 1: 139,241,258 H841N possibly damaging Het
Ehbp1l1 A G 19: 5,715,953 V1454A probably benign Het
Eif3d A G 15: 77,959,643 L501P probably damaging Het
Fbxo4 A T 15: 3,977,862 S107T possibly damaging Het
Galnt10 T C 11: 57,725,582 Y108H probably damaging Het
Hspbap1 T A 16: 35,818,726 D263E probably damaging Het
Kpna3 T C 14: 61,370,782 probably benign Het
Miox A G 15: 89,336,084 T160A possibly damaging Het
Mlxipl G A 5: 135,132,453 V409M possibly damaging Het
Mrps21 A T 3: 95,870,585 probably benign Het
Muc6 A G 7: 141,644,567 probably benign Het
Mup6 A T 4: 60,003,999 I31F probably damaging Het
Olfr593 A G 7: 103,212,697 H279R probably benign Het
Pgr T A 9: 8,903,664 I562N possibly damaging Het
Prag1 T A 8: 36,103,549 W429R probably benign Het
Prrc2c G T 1: 162,677,409 P2621Q probably damaging Het
Psip1 T G 4: 83,465,081 K232N probably damaging Het
Ryr1 T C 7: 29,070,659 Y2663C probably damaging Het
Trhr2 T A 8: 122,358,603 Q214L probably benign Het
Txndc11 A T 16: 11,075,287 Y860N probably damaging Het
Vmn2r72 C T 7: 85,752,041 probably benign Het
Yif1a T A 19: 5,088,729 H4Q possibly damaging Het
Other mutations in Fam122a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00515:Fam122a APN 19 24476632 missense probably damaging 1.00
IGL01662:Fam122a APN 19 24476584 missense probably benign 0.00
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
R7940:Fam122a UTSW 19 24477188 missense probably benign 0.41
Z1177:Fam122a UTSW 19 24476803 missense probably damaging 1.00
Posted On2016-08-02