Incidental Mutation 'IGL02313:Fam49a'
ID287896
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? Possibly non essential (E-score: 0.408) question?
Stock #IGL02313
Quality Score
Status
Chromosome12
Chromosomal Location12262139-12380965 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 12364751 bp
ZygosityHeterozygous
Amino Acid Change Threonine to Alanine at position 248 (T248A)
Ref Sequence ENSEMBL: ENSMUSP00000152252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]
Predicted Effect possibly damaging
Transcript: ENSMUST00000069005
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589
AA Change: T248A

DomainStartEndE-ValueType
Pfam:DUF1394 17 319 2.1e-150 PFAM
Predicted Effect possibly damaging
Transcript: ENSMUST00000069066
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
SMART Domains Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589
AA Change: T248A

DomainStartEndE-ValueType
Pfam:DUF1394 15 319 1.9e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220545
Predicted Effect possibly damaging
Transcript: ENSMUST00000223061
AA Change: T248A

PolyPhen 2 Score 0.931 (Sensitivity: 0.81; Specificity: 0.94)
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 55 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ankrd13c T A 3: 157,947,934 N136K probably damaging Het
Aph1b A T 9: 66,790,673 probably benign Het
Atf7ip A G 6: 136,606,720 K1250E probably damaging Het
Atp8b2 T C 3: 89,949,853 N400S probably damaging Het
Brca2 C A 5: 150,538,661 S630Y probably damaging Het
Chd6 T A 2: 160,965,675 E1873V probably damaging Het
Chrna10 T C 7: 102,112,029 probably benign Het
Col6a3 A G 1: 90,811,606 L907P probably damaging Het
Cxcr6 A G 9: 123,810,705 N264S probably damaging Het
Dgkg A G 16: 22,570,230 probably benign Het
Dpysl2 T G 14: 66,824,390 M256L probably benign Het
Dsp G T 13: 38,196,523 E1816* probably null Het
Fam129c A G 8: 71,602,860 R305G possibly damaging Het
Fam13b T C 18: 34,454,656 K530E probably damaging Het
Fastk T C 5: 24,443,092 H242R probably damaging Het
Fbxw28 A T 9: 109,337,352 H145Q possibly damaging Het
Heatr6 T C 11: 83,778,892 L910P probably damaging Het
Hmcn2 A G 2: 31,453,605 T4642A possibly damaging Het
Hspg2 A G 4: 137,508,389 T167A probably benign Het
Igsf10 A G 3: 59,330,690 L690P probably benign Het
Klhdc10 G A 6: 30,439,866 probably null Het
Krt31 A G 11: 100,048,396 Y232H probably damaging Het
Lsm3 A G 6: 91,516,088 probably benign Het
Mfn2 T A 4: 147,885,490 I375F probably damaging Het
Mfrp A T 9: 44,102,874 I180F probably damaging Het
Msh3 T C 13: 92,349,312 E168G possibly damaging Het
Naa16 A T 14: 79,384,668 V77D probably damaging Het
Nav2 T C 7: 49,558,773 S1570P probably damaging Het
Numa1 C T 7: 102,000,232 R1057* probably null Het
Nup210l G A 3: 90,122,792 A271T probably damaging Het
Ogdh T C 11: 6,355,400 V965A probably damaging Het
Olfr63 C A 17: 33,269,665 Q314K probably benign Het
Olfr734 A T 14: 50,320,016 V273E probably damaging Het
Olfr818 A G 10: 129,945,903 L53P probably damaging Het
Olfr836 A T 9: 19,121,375 N140I probably damaging Het
Olfr916 T A 9: 38,658,066 I109F probably damaging Het
Pdp2 A T 8: 104,594,899 Q460L probably benign Het
Pex5l T C 3: 32,992,992 T270A probably benign Het
Pkp4 C T 2: 59,310,254 Q435* probably null Het
Prss32 G A 17: 23,856,122 V149M probably benign Het
Riox2 C A 16: 59,489,417 P378Q probably benign Het
Rita1 C T 5: 120,609,793 A147T probably damaging Het
Rsph4a T A 10: 33,905,525 S124T possibly damaging Het
Sdccag8 G A 1: 176,824,755 R24H possibly damaging Het
Slc22a1 C A 17: 12,675,500 G54* probably null Het
Slc24a5 C T 2: 125,085,647 probably benign Het
Tex101 C T 7: 24,668,325 V201M probably damaging Het
Tmprss7 T C 16: 45,681,593 Y223C probably damaging Het
Trpc4ap T C 2: 155,650,468 E382G probably damaging Het
Uggt1 A T 1: 36,184,484 Y575N probably damaging Het
Vmn2r70 T C 7: 85,565,168 I259V probably damaging Het
Xpo1 T A 11: 23,277,065 N131K probably damaging Het
Zfp579 C T 7: 4,994,433 V160M probably benign Het
Zfp697 A G 3: 98,425,450 D64G probably benign Het
Zfp974 T C 7: 27,912,253 T16A possibly damaging Het
Other mutations in Fam49a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Fam49a APN 12 12359234 missense probably benign
IGL01614:Fam49a APN 12 12361573 critical splice donor site probably null
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
R7169:Fam49a UTSW 12 12359232 missense possibly damaging 0.81
R7363:Fam49a UTSW 12 12340664 splice site probably null
R7522:Fam49a UTSW 12 12358056 missense possibly damaging 0.93
R7877:Fam49a UTSW 12 12364797 missense probably benign 0.37
R7960:Fam49a UTSW 12 12364797 missense probably benign 0.37
R8061:Fam49a UTSW 12 12362027 missense possibly damaging 0.55
RF015:Fam49a UTSW 12 12369938 missense probably benign
X0017:Fam49a UTSW 12 12362069 missense probably damaging 1.00
Posted On2015-04-16