Incidental Mutation 'IGL01614:Fam49a'
ID92338
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: 0.326) question?
Stock #IGL01614
Quality Score
Status
Chromosome12
Chromosomal Location12262139-12380965 bp(+) (GRCm38)
Type of Mutationcritical splice donor site (2 bp from exon)
DNA Base Change (assembly) T to C at 12361573 bp
ZygosityHeterozygous
Amino Acid Change
Ref Sequence ENSEMBL: ENSMUSP00000152252 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000069005] [ENSMUST00000069066] [ENSMUST00000223061]
Predicted Effect probably null
Transcript: ENSMUST00000069005
SMART Domains Protein: ENSMUSP00000068125
Gene: ENSMUSG00000020589

DomainStartEndE-ValueType
Pfam:DUF1394 17 319 2.1e-150 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000069066
SMART Domains Protein: ENSMUSP00000065613
Gene: ENSMUSG00000020589

DomainStartEndE-ValueType
Pfam:DUF1394 15 319 1.9e-180 PFAM
Predicted Effect noncoding transcript
Transcript: ENSMUST00000220545
Predicted Effect probably null
Transcript: ENSMUST00000223061
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 28 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Adgrf5 T A 17: 43,424,471 S143T possibly damaging Het
Arhgap32 G T 9: 32,260,505 S1527I probably damaging Het
Atp8a2 A G 14: 60,044,988 V128A probably damaging Het
Bpi T C 2: 158,271,946 F255L probably damaging Het
Clptm1 A T 7: 19,637,700 D269E probably benign Het
E2f7 T C 10: 110,759,978 V63A probably damaging Het
Eif4e1b T A 13: 54,786,916 I184N probably damaging Het
Gal3st1 T A 11: 3,998,996 L401Q probably damaging Het
Gm7808 G A 9: 19,928,146 probably benign Het
Hdac5 G A 11: 102,200,028 T741I probably benign Het
Ipo5 A G 14: 120,935,095 T522A probably benign Het
Lama5 A C 2: 180,180,864 F2832V probably damaging Het
Ltk A C 2: 119,753,487 L230R probably damaging Het
Mettl14 A T 3: 123,373,960 probably benign Het
Myom1 T C 17: 71,126,178 F1507L possibly damaging Het
Nsd3 T A 8: 25,666,079 I554K possibly damaging Het
Olfr1044 A T 2: 86,171,397 I140N possibly damaging Het
Olfr107 G A 17: 37,405,638 C30Y probably benign Het
Olfr340 T G 2: 36,452,624 I13S probably benign Het
Olfr644 C T 7: 104,068,369 V221I probably benign Het
Prr14 T A 7: 127,475,133 L279H probably damaging Het
Rbm25 G T 12: 83,659,567 D229Y probably damaging Het
Sdk2 T C 11: 113,793,858 K1926E probably damaging Het
Slc25a23 C T 17: 57,045,579 R435Q probably null Het
Srebf2 A G 15: 82,178,853 N457S probably benign Het
Stac2 T C 11: 98,052,948 D12G probably benign Het
Tal1 A C 4: 115,063,128 probably null Het
Usp25 G A 16: 77,077,117 R527Q probably damaging Het
Other mutations in Fam49a
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00863:Fam49a APN 12 12359234 missense probably benign
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
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
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 On2013-12-09