Incidental Mutation 'R0076:Gmfb'
ID 63988
Institutional Source Beutler Lab
Gene Symbol Gmfb
Ensembl Gene ENSMUSG00000062014
Gene Name glia maturation factor, beta
Synonyms 3110001H22Rik, 3110001O16Rik, D14Ertd630e
MMRRC Submission 038363-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0076 (G1)
Quality Score 110
Status Validated
Chromosome 14
Chromosomal Location 47045606-47059699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) C to A at 47054912 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Alanine to Serine at position 11 (A11S)
Ref Sequence ENSEMBL: ENSMUSP00000107448 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000079314] [ENSMUST00000111817] [ENSMUST00000145958]
AlphaFold Q9CQI3
Predicted Effect probably benign
Transcript: ENSMUST00000079314
AA Change: A11S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000078293
Gene: ENSMUSG00000062014
AA Change: A11S

DomainStartEndE-ValueType
ADF 12 139 2.94e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111817
AA Change: A11S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)
SMART Domains Protein: ENSMUSP00000107448
Gene: ENSMUSG00000062014
AA Change: A11S

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 unknown
Transcript: ENSMUST00000226333
AA Change: A11S
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226842
Predicted Effect probably benign
Transcript: ENSMUST00000226937
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228515
Meta Mutation Damage Score 0.0704 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.9%
  • 10x: 97.7%
  • 20x: 96.0%
Validation Efficiency 100% (50/50)
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: 33 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Acp3 A G 9: 104,201,417 (GRCm39) probably benign Het
Ankrd17 T A 5: 90,392,265 (GRCm39) K1693* probably null Het
Car10 G A 11: 93,381,423 (GRCm39) E129K possibly damaging Het
Ccnd1 A C 7: 144,493,402 (GRCm39) V10G probably benign Het
Cd19 T C 7: 126,010,034 (GRCm39) D406G probably damaging Het
Cfap91 G A 16: 38,123,046 (GRCm39) Q661* probably null Het
Col4a1 G A 8: 11,268,713 (GRCm39) P1009L probably damaging Het
Col9a1 G A 1: 24,276,578 (GRCm39) probably null Het
Crlf3 A T 11: 79,947,427 (GRCm39) probably benign Het
Dock3 A C 9: 106,788,685 (GRCm39) probably benign Het
Dus1l A T 11: 120,683,634 (GRCm39) probably benign Het
Dvl2 G A 11: 69,898,926 (GRCm39) E438K probably damaging Het
Eif3g A G 9: 20,809,049 (GRCm39) F85S probably damaging Het
Fam234b A G 6: 135,204,224 (GRCm39) M456V probably benign Het
Fbxo47 G A 11: 97,748,481 (GRCm39) probably benign Het
Galntl5 A G 5: 25,391,070 (GRCm39) probably null Het
Gm11437 T C 11: 84,039,462 (GRCm39) T288A possibly damaging Het
Gm5546 T A 3: 104,260,448 (GRCm39) noncoding transcript Het
Hnrnpa3 G T 2: 75,492,040 (GRCm39) R52L probably damaging Het
Ing3 T C 6: 21,952,170 (GRCm39) M48T probably benign Het
Kmt2a A G 9: 44,741,356 (GRCm39) probably benign Het
Megf8 G A 7: 25,053,383 (GRCm39) probably null Het
Pex3 A G 10: 13,411,338 (GRCm39) V180A probably benign Het
Pou6f1 G A 15: 100,485,717 (GRCm39) Q106* probably null Het
Ror2 T C 13: 53,267,110 (GRCm39) M442V probably benign Het
Rspo1 G A 4: 124,885,190 (GRCm39) R22Q probably benign Het
Sec1 A G 7: 45,328,315 (GRCm39) V244A probably damaging Het
Serac1 A G 17: 6,115,212 (GRCm39) probably benign Het
Sgcz A G 8: 38,012,596 (GRCm39) probably benign Het
Slc16a7 A T 10: 125,063,939 (GRCm39) V466D probably benign Het
Tbl1xr1 T A 3: 22,243,949 (GRCm39) D74E probably benign Het
Ube3b G T 5: 114,546,278 (GRCm39) probably null Het
Ugt2b37 A G 5: 87,402,080 (GRCm39) S184P probably benign Het
Other mutations in Gmfb
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00647:Gmfb APN 14 47,054,838 (GRCm39) splice site probably null
IGL02570:Gmfb APN 14 47,054,904 (GRCm39) missense probably benign
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
Predicted Primers PCR Primer
(F):5'- TGGAGGCACCATTGCACTCTGAAG -3'
(R):5'- AAGTGCTCGTCAGGCATTGCTG -3'

Sequencing Primer
(F):5'- CATTGCACTCTGAAGGCTTG -3'
(R):5'- atctgcctgcctctgcc -3'
Posted On 2013-08-06