Incidental Mutation 'IGL01556:Fam124a'
ID90717
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam124a
Ensembl Gene ENSMUSG00000035184
Gene Namefamily with sequence similarity 124, member A
SynonymsEG629059
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.081) question?
Stock #IGL01556
Quality Score
Status
Chromosome14
Chromosomal Location62555737-62608486 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) G to A at 62587732 bp
ZygosityHeterozygous
Amino Acid Change Cysteine to Tyrosine at position 225 (C225Y)
Ref Sequence ENSEMBL: ENSMUSP00000047681 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000039064]
Predicted Effect probably damaging
Transcript: ENSMUST00000039064
AA Change: C225Y

PolyPhen 2 Score 0.981 (Sensitivity: 0.75; Specificity: 0.96)
SMART Domains Protein: ENSMUSP00000047681
Gene: ENSMUSG00000035184
AA Change: C225Y

DomainStartEndE-ValueType
low complexity region 22 35 N/A INTRINSIC
Pfam:FAM124 45 276 2.6e-108 PFAM
low complexity region 410 423 N/A INTRINSIC
Predicted Effect noncoding transcript
Transcript: ENSMUST00000161899
Predicted Effect noncoding transcript
Transcript: ENSMUST00000162987
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 34 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adamts18 T C 8: 113,845,109 I81V probably benign Het
Armc3 T A 2: 19,269,146 D330E probably damaging Het
Atp6v0b A G 4: 117,885,865 F49S probably damaging Het
Atp8b3 A C 10: 80,530,968 Y265* probably null Het
Cdh11 A G 8: 102,679,644 Y66H probably damaging Het
Cntn5 T A 9: 9,673,908 M730L probably benign Het
Cntrl A G 2: 35,173,059 T1556A probably benign Het
Dixdc1 A G 9: 50,706,134 S128P probably damaging Het
Doxl2 A C 6: 48,975,684 D181A possibly damaging Het
Egfr T C 11: 16,905,382 L889S probably damaging Het
F830045P16Rik A G 2: 129,463,720 Y245H probably benign Het
Frem2 T C 3: 53,535,281 T2612A probably benign Het
Gkap1 A T 13: 58,263,292 I89N probably benign Het
Gm1840 A G 8: 5,639,833 noncoding transcript Het
Gm8247 A T 14: 44,586,354 K75* probably null Het
Hdac11 T A 6: 91,173,180 H320Q probably benign Het
Iyd A G 10: 3,547,091 I149V probably benign Het
Krtap4-6 T A 11: 99,665,850 Q17L unknown Het
Lrrc24 T A 15: 76,722,575 D207V probably damaging Het
Mfsd12 G A 10: 81,363,024 C425Y probably damaging Het
Muc5b A G 7: 141,863,240 T3308A probably benign Het
Myo18b A G 5: 112,757,449 probably benign Het
Ndufa6 C T 15: 82,354,081 V50M possibly damaging Het
Nin A G 12: 70,043,188 V1151A probably benign Het
Nrf1 A G 6: 30,126,367 probably benign Het
Pcdhb20 T C 18: 37,504,799 I126T possibly damaging Het
Pdgfra G T 5: 75,177,691 L535F probably damaging Het
Pkn2 A T 3: 142,829,317 I212K possibly damaging Het
Slc5a9 T A 4: 111,898,636 T22S probably benign Het
Slitrk1 A G 14: 108,913,018 L87S probably damaging Het
Spert A G 14: 75,584,111 F16S probably damaging Het
Syne2 C A 12: 76,087,815 R29S probably damaging Het
Zc3h12b C A X: 95,927,115 F551L probably damaging Het
Zfp664 C A 5: 124,886,188 C215* probably null Het
Other mutations in Fam124a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02010:Fam124a APN 14 62587279 missense probably damaging 1.00
IGL02939:Fam124a APN 14 62555919 splice site probably null
IGL03060:Fam124a APN 14 62605904 missense probably benign
P0026:Fam124a UTSW 14 62606122 missense probably damaging 1.00
R0133:Fam124a UTSW 14 62606333 missense possibly damaging 0.71
R2044:Fam124a UTSW 14 62587207 missense probably damaging 1.00
R5397:Fam124a UTSW 14 62606389 missense probably benign
R5753:Fam124a UTSW 14 62606539 missense probably benign 0.01
R5988:Fam124a UTSW 14 62587537 missense possibly damaging 0.95
R7170:Fam124a UTSW 14 62587180 missense probably damaging 1.00
R7583:Fam124a UTSW 14 62606559 nonsense probably null
X0062:Fam124a UTSW 14 62605990 missense probably benign 0.01
Posted On2013-12-09