Incidental Mutation 'IGL02570:Gmfb'
ID298989
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Gmfb
Ensembl Gene ENSMUSG00000062014
Gene Nameglia maturation factor, beta
Synonyms3110001H22Rik, 3110001O16Rik, D14Ertd630e
Accession Numbers
Is this an essential gene? Non essential (E-score: 0.000) question?
Stock #IGL02570
Quality Score
Status
Chromosome14
Chromosomal Location46808149-46822242 bp(-) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) A to T at 46817447 bp
ZygosityHeterozygous
Amino Acid Change Aspartic acid to Glutamic Acid at position 13 (D13E)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079314] [ENSMUST00000111817] [ENSMUST00000145958]
Predicted Effect probably benign
Transcript: ENSMUST00000079314
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000078293
Gene: ENSMUSG00000062014
AA Change: D13E

DomainStartEndE-ValueType
ADF 12 139 2.94e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111817
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000107448
Gene: ENSMUSG00000062014
AA Change: D13E

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 benign
Transcript: ENSMUST00000226333
AA Change: D13E

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
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: 26 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acat3 T C 17: 12,940,294 T3A probably benign Het
Anapc1 A C 2: 128,645,200 F1087V probably damaging Het
Ccdc158 T C 5: 92,649,026 T484A possibly damaging Het
Cps1 T C 1: 67,148,703 probably benign Het
Fscb A G 12: 64,472,178 I838T unknown Het
Gdap1 A G 1: 17,145,485 Q5R probably benign Het
Gmds A G 13: 32,234,407 probably benign Het
Gpcpd1 A T 2: 132,547,685 V250D probably benign Het
Grin2b T C 6: 135,922,998 D295G probably damaging Het
Igkv1-135 A T 6: 67,609,748 M2L probably benign Het
Impdh1 T C 6: 29,203,198 Y375C probably damaging Het
Lrpprc A G 17: 84,750,553 Y750H probably damaging Het
Mab21l2 A T 3: 86,547,224 S156R possibly damaging Het
Map4k4 T C 1: 39,980,579 I146T probably benign Het
Pcdh18 A T 3: 49,756,625 N80K probably benign Het
Pkhd1 A G 1: 20,520,256 F1756L probably damaging Het
Plekhg3 A G 12: 76,578,245 E1287G probably benign Het
Rev3l T A 10: 39,848,013 V2647E possibly damaging Het
Rxfp4 A C 3: 88,652,842 S101A probably damaging Het
Spag4 A T 2: 156,068,444 H330L possibly damaging Het
Spef2 G A 15: 9,717,498 R254* probably null Het
Srrm1 G A 4: 135,325,104 P658L unknown Het
Usp16 A G 16: 87,480,893 Y677C probably damaging Het
Vmn2r71 T A 7: 85,615,540 W27R possibly damaging Het
Vwa5a T C 9: 38,734,871 probably benign Het
Zfp935 A G 13: 62,456,978 Y29H probably damaging Het
Other mutations in Gmfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Gmfb APN 14 46817381 splice site probably null
R0076:Gmfb UTSW 14 46817455 missense probably benign 0.00
R0076:Gmfb UTSW 14 46817455 missense probably benign 0.00
R0409:Gmfb UTSW 14 46816222 missense probably benign 0.02
R1618:Gmfb UTSW 14 46811780 nonsense probably null
R7262:Gmfb UTSW 14 46814929 missense probably damaging 0.99
Posted On2015-04-16