Incidental Mutation 'IGL01983:Fam49b'
ID183534
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fam49b
Ensembl Gene ENSMUSG00000022378
Gene Namefamily with sequence similarity 49, member B
Synonyms
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL01983
Quality Score
Status
Chromosome15
Chromosomal Location63929097-64060478 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to G at 63937387 bp
ZygosityHeterozygous
Amino Acid Change Serine to Proline at position 251 (S251P)
Ref Sequence ENSEMBL: ENSMUSP00000154320 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000063838] [ENSMUST00000164532] [ENSMUST00000228226] [ENSMUST00000228908]
Predicted Effect probably benign
Transcript: ENSMUST00000063838
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000066359
Gene: ENSMUSG00000022378
AA Change: S251P

DomainStartEndE-ValueType
Pfam:DUF1394 16 320 1e-179 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000164532
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
SMART Domains Protein: ENSMUSP00000132486
Gene: ENSMUSG00000022378
AA Change: S251P

DomainStartEndE-ValueType
Pfam:DUF1394 18 320 3e-155 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000228226
AA Change: S251P

PolyPhen 2 Score 0.004 (Sensitivity: 0.98; Specificity: 0.59)
Predicted Effect probably benign
Transcript: ENSMUST00000228908
Coding Region Coverage
Validation Efficiency
Allele List at MGI
Other mutations in this stock
Total: 32 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acadl G A 1: 66,841,624 Q328* probably null Het
Alpk2 T C 18: 65,350,682 Y85C probably damaging Het
Arhgap31 C T 16: 38,601,765 R1313Q probably damaging Het
Chrnb1 G T 11: 69,795,729 R22S probably benign Het
Clec7a G A 6: 129,465,576 probably benign Het
Epb41l5 A G 1: 119,579,084 probably benign Het
Gm10093 T A 17: 78,492,853 D424E probably benign Het
Hydin A C 8: 110,514,895 I2106L probably benign Het
Igkv3-5 T A 6: 70,663,686 D50E probably benign Het
Irf2bp1 G T 7: 19,005,295 A287S possibly damaging Het
Ldb3 G A 14: 34,577,199 S156L probably benign Het
Lnpep A T 17: 17,531,178 W942R probably damaging Het
Mst1r T A 9: 107,917,276 V1218D probably damaging Het
Naxd G T 8: 11,510,218 probably benign Het
Nol9 T C 4: 152,046,037 probably null Het
Nus1 T A 10: 52,436,657 L295Q probably damaging Het
Nxph2 A G 2: 23,399,934 I99M probably benign Het
Plekhg1 T A 10: 3,945,904 I432N probably damaging Het
Pon3 A G 6: 5,240,974 L69S probably damaging Het
Pram1 C A 17: 33,640,861 A134D probably damaging Het
Serpinb6c T A 13: 33,897,334 probably benign Het
Stk10 A T 11: 32,589,460 E280V probably benign Het
Tbc1d10c T A 19: 4,190,709 Q34L possibly damaging Het
Tnr G A 1: 159,863,779 V500I probably benign Het
Trim66 G A 7: 109,458,251 R992* probably null Het
Unc45b A G 11: 82,936,861 D728G probably benign Het
Usp13 A G 3: 32,917,459 D696G probably damaging Het
Utrn C T 10: 12,669,781 V1707I probably benign Het
Vmn2r96 A T 17: 18,597,265 H368L probably damaging Het
Xrn1 T C 9: 95,973,368 probably null Het
Zfhx3 C A 8: 108,947,234 L1639M probably damaging Het
Znfx1 A T 2: 167,056,350 V218E probably damaging Het
Other mutations in Fam49b
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL01907:Fam49b APN 15 63931686 splice site probably benign
Topsy UTSW 15 63938677 missense probably damaging 0.99
turvey UTSW 15 63956598 critical splice donor site probably null
Upsidedown UTSW 15 63938658 splice site probably null
PIT4480001:Fam49b UTSW 15 63956641 missense probably benign 0.42
R3956:Fam49b UTSW 15 63941974 missense probably damaging 1.00
R5181:Fam49b UTSW 15 63938677 missense probably damaging 0.99
R5484:Fam49b UTSW 15 63943207 missense probably damaging 1.00
R5723:Fam49b UTSW 15 63956598 critical splice donor site probably null
R7260:Fam49b UTSW 15 63957589 missense possibly damaging 0.65
R7368:Fam49b UTSW 15 63938658 splice site probably null
R8053:Fam49b UTSW 15 63941983 missense probably damaging 1.00
Posted On2014-05-07