Incidental Mutation 'IGL00863:Fam49a'
ID10660
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam49a
Ensembl Gene ENSMUSG00000020589
Gene Namefamily with sequence similarity 49, member A
Synonyms2410157M17Rik, D12Ertd553e
Accession Numbers
Is this an essential gene? Probably non essential (E-score: 0.136) question?
Stock #IGL00863
Quality Score
Status
Chromosome12
Chromosomal Location12262139-12380965 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 12359234 bp
ZygosityHeterozygous
Amino Acid Change Isoleucine to Phenylalanine at position 72 (I72F)
Ref Sequence ENSEMBL: ENSMUSP00000152252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]
Predicted Effect probably benign
Transcript: ENSMUST00000069005
AA Change: I72F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: I72F

DomainStartEndE-ValueType
Pfam:DUF1394 17 319 2.1e-150 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000069066
AA Change: I72F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: I72F

DomainStartEndE-ValueType
Pfam:DUF1394 15 319 1.9e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220545
Predicted Effect noncoding transcript
Transcript: ENSMUST00000221782
Predicted Effect probably benign
Transcript: ENSMUST00000223061
AA Change: I72F

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 27 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700011I03Rik A T 18: 57,594,086 E136V probably damaging Het
Bsn A G 9: 108,115,322 I1077T probably damaging Het
Car8 A G 4: 8,183,251 probably null Het
Ccny A T 18: 9,345,444 D143E probably benign Het
Cdh19 A G 1: 110,949,144 V155A probably damaging Het
Cript T A 17: 87,027,723 I14N probably damaging Het
Crygd C T 1: 65,062,091 R115Q probably benign Het
Eef1b2 G A 1: 63,178,506 G91R probably damaging Het
Fbln5 A G 12: 101,809,916 V60A probably damaging Het
Fbn1 T A 2: 125,403,219 E249D possibly damaging Het
G6pc G T 11: 101,370,723 R83L probably damaging Het
Grik2 A G 10: 49,355,928 V502A possibly damaging Het
Heatr1 T C 13: 12,435,128 V2001A probably benign Het
Il4i1 T A 7: 44,838,046 Y148* probably null Het
Jmjd4 T C 11: 59,450,743 S113P probably benign Het
Mpp5 A G 12: 78,809,821 D146G probably damaging Het
Nceh1 C T 3: 27,241,313 P241L probably damaging Het
Pcdh10 T A 3: 45,380,302 D350E probably damaging Het
Pdgfrl A G 8: 40,985,534 E169G probably damaging Het
Ppm1l T A 3: 69,317,950 D128E probably damaging Het
Rasa1 A G 13: 85,288,429 V160A probably benign Het
Serf2 T C 2: 121,457,703 probably null Het
Slitrk1 T A 14: 108,911,837 N481Y probably damaging Het
Tas2r139 T G 6: 42,141,121 S62R probably damaging Het
Tdpoz4 A T 3: 93,797,073 T226S probably benign Het
Tvp23b C A 11: 62,883,638 A36E probably damaging Het
Upp2 G A 2: 58,790,064 E301K probably benign Het
Other mutations in Fam49a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01614:Fam49a APN 12 12361573 critical splice donor site probably null
IGL02313:Fam49a APN 12 12364751 missense possibly damaging 0.93
R0129:Fam49a UTSW 12 12362349 missense probably damaging 0.99
R1807:Fam49a UTSW 12 12361504 missense probably benign 0.01
R2017:Fam49a UTSW 12 12362361 missense probably damaging 1.00
R3893:Fam49a UTSW 12 12362525 missense probably benign 0.21
R5816:Fam49a UTSW 12 12358165 missense probably benign 0.33
X0017:Fam49a UTSW 12 12362069 missense probably damaging 1.00
Posted On2012-12-06