Incidental Mutation 'IGL00647:Gmfb'
ID 12641
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmfb
Ensembl Gene ENSMUSG00000062014
Gene Name glia maturation factor, beta
Synonyms 3110001H22Rik, 3110001O16Rik, D14Ertd630e
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # IGL00647
Quality Score
Status
Chromosome 14
Chromosomal Location 47045606-47059699 bp(-) (GRCm39)
Type of Mutation splice site (5 bp from exon)
DNA Base Change (assembly) C to T at 47054838 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change
Gene Model predicted gene model for transcript(s): [ENSMUST00000079314] [ENSMUST00000111817] [ENSMUST00000145958]
AlphaFold Q9CQI3
Predicted Effect probably null
Transcript: ENSMUST00000079314
SMART Domains Protein: ENSMUSP00000078293
Gene: ENSMUSG00000062014

DomainStartEndE-ValueType
ADF 12 139 2.94e-40 SMART
Predicted Effect probably null
Transcript: ENSMUST00000111817
SMART Domains Protein: ENSMUSP00000107448
Gene: ENSMUSG00000062014

DomainStartEndE-ValueType
ADF 12 139 2.94e-40 SMART
Predicted Effect noncoding transcript
Transcript: ENSMUST00000145958
SMART Domains Protein: ENSMUSP00000118225
Gene: ENSMUSG00000062014

DomainStartEndE-ValueType
Pfam:Cofilin_ADF 1 80 1.7e-23 PFAM
Predicted Effect probably null
Transcript: ENSMUST00000226333
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226842
Predicted Effect probably benign
Transcript: ENSMUST00000226937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228515
Coding Region Coverage
Validation Efficiency
MGI Phenotype PHENOTYPE: Homozygous null mice display impaired balance and eye blink conditioning behavior and abnormal metencephalon morphology. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 11 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
C9 C A 15: 6,512,564 (GRCm39) H229N probably benign Het
Ctsr T C 13: 61,310,556 (GRCm39) N63S probably damaging Het
Itsn2 T C 12: 4,663,311 (GRCm39) probably benign Het
Mfap5 G A 6: 122,502,975 (GRCm39) V62M probably damaging Het
Mmp2 A G 8: 93,557,312 (GRCm39) T73A probably benign Het
Prss40 T C 1: 34,591,620 (GRCm39) T352A probably benign Het
Rag2 A G 2: 101,460,962 (GRCm39) D424G probably benign Het
Slc3a1 T A 17: 85,371,233 (GRCm39) V595D probably damaging Het
Tomm22 T A 15: 79,556,099 (GRCm39) F27I probably damaging Het
Tshr A G 12: 91,504,274 (GRCm39) E404G probably damaging Het
Zfp518a C T 19: 40,903,130 (GRCm39) P1020S probably damaging Het
Other mutations in Gmfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL02570:Gmfb APN 14 47,054,904 (GRCm39) missense probably benign
R0076:Gmfb UTSW 14 47,054,912 (GRCm39) missense probably benign 0.00
R0076:Gmfb UTSW 14 47,054,912 (GRCm39) missense probably benign 0.00
R0409:Gmfb UTSW 14 47,053,679 (GRCm39) missense probably benign 0.02
R1618:Gmfb UTSW 14 47,049,237 (GRCm39) nonsense probably null
R7262:Gmfb UTSW 14 47,052,386 (GRCm39) missense probably damaging 0.99
Posted On 2012-12-06