Incidental Mutation 'IGL03019:Fam212b'
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ID407983
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam212b
Ensembl Gene ENSMUSG00000048458
Gene Namefamily with sequence similarity 212, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL03019
Quality Score
Status
Chromosome3
Chromosomal Location105704599-105720842 bp(+) (GRCm38)
Type of Mutationstart codon destroyed
DNA Base Change (assembly) G to T at 105716371 bp
ZygosityHeterozygous
Amino Acid Change Methionine to Isoleucine at position 1 (M1I)
Ref Sequence ENSEMBL: ENSMUSP00000095874 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000066610] [ENSMUST00000098273]
Predicted Effect probably benign
Transcript: ENSMUST00000066610
AA Change: M20I

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000069212
Gene: ENSMUSG00000048458
AA Change: M20I

DomainStartEndE-ValueType
low complexity region 93 102 N/A INTRINSIC
Pfam:FAM212 118 178 1.9e-32 PFAM
low complexity region 246 262 N/A INTRINSIC
Predicted Effect probably null
Transcript: ENSMUST00000098273
AA Change: M1I

PolyPhen 2 Score 0.016 (Sensitivity: 0.95; Specificity: 0.79)
SMART Domains Protein: ENSMUSP00000095874
Gene: ENSMUSG00000048458
AA Change: M1I

DomainStartEndE-ValueType
low complexity region 74 83 N/A INTRINSIC
Pfam:FAM212 98 160 9.6e-30 PFAM
low complexity region 227 243 N/A INTRINSIC
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 22 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Ackr2 T A 9: 121,909,182 Y208N probably benign Het
Agap2 T C 10: 127,091,562 probably benign Het
Arhgap21 A T 2: 20,861,063 I914N probably damaging Het
Brsk1 T C 7: 4,710,497 probably benign Het
Cachd1 A T 4: 100,952,085 T256S probably damaging Het
Ccdc171 G T 4: 83,795,308 G1195W probably damaging Het
Cept1 A G 3: 106,504,641 M339T probably damaging Het
Cir1 T C 2: 73,286,348 K223E unknown Het
Cited2 A T 10: 17,724,162 M73L probably benign Het
Drg2 T C 11: 60,456,595 Y37H probably damaging Het
Drosha T C 15: 12,846,099 L440P probably damaging Het
Dsc1 G A 18: 20,088,364 P685S probably benign Het
Epha1 T A 6: 42,362,752 D639V probably damaging Het
Izumo4 A G 10: 80,703,846 probably benign Het
Kcnmb2 A T 3: 32,198,150 R167W probably damaging Het
Lce1k A C 3: 92,806,779 C33G unknown Het
Map7 C T 10: 20,267,355 P417S unknown Het
Myo18b A G 5: 112,692,397 V2510A probably benign Het
Rubcn A T 16: 32,826,707 V787D probably damaging Het
Spen A T 4: 141,478,916 L800Q unknown Het
Zfp276 C A 8: 123,267,934 T580N probably damaging Het
Zfp354c G T 11: 50,817,194 P60T probably damaging Het
Other mutations in Fam212b
AlleleSourceChrCoordTypePredicted EffectPPH Score
R1623:Fam212b UTSW 3 105716820 missense probably damaging 1.00
R5554:Fam212b UTSW 3 105716614 missense possibly damaging 0.86
R5651:Fam212b UTSW 3 105716432 missense probably damaging 1.00
R7904:Fam212b UTSW 3 105716414 missense probably damaging 0.98
R7946:Fam212b UTSW 3 105716445 missense probably damaging 1.00
Posted On2016-08-02