Incidental Mutation 'R0409:Gmfb'
ID 36537
Institutional Source Beutler Lab
Gene Symbol Gmfb
Ensembl Gene ENSMUSG00000062014
Gene Name glia maturation factor, beta
Synonyms 3110001H22Rik, 3110001O16Rik, D14Ertd630e
MMRRC Submission 038611-MU
Accession Numbers
Essential gene? Non essential (E-score: 0.000) question?
Stock # R0409 (G1)
Quality Score 196
Status Validated
Chromosome 14
Chromosomal Location 47045606-47059699 bp(-) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) T to C at 47053679 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Isoleucine to Valine at position 36 (I36V)
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: I36V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000078293
Gene: ENSMUSG00000062014
AA Change: I36V

DomainStartEndE-ValueType
ADF 12 139 2.94e-40 SMART
Predicted Effect probably benign
Transcript: ENSMUST00000111817
AA Change: I36V

PolyPhen 2 Score 0.017 (Sensitivity: 0.95; Specificity: 0.80)
SMART Domains Protein: ENSMUSP00000107448
Gene: ENSMUSG00000062014
AA Change: I36V

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: I36V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000226842
Predicted Effect unknown
Transcript: ENSMUST00000226937
AA Change: I30V
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228065
Predicted Effect noncoding transcript
Transcript: ENSMUST00000228515
Meta Mutation Damage Score 0.1501 question?
Coding Region Coverage
  • 1x: 99.3%
  • 3x: 98.6%
  • 10x: 96.9%
  • 20x: 94.8%
Validation Efficiency 100% (55/55)
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: 52 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
1700113H08Rik G T 10: 87,061,816 (GRCm39) A89S probably damaging Het
Alkbh3 T A 2: 93,831,793 (GRCm39) I146F possibly damaging Het
Aox1 A T 1: 58,375,783 (GRCm39) I871F possibly damaging Het
Birc2 A C 9: 7,819,385 (GRCm39) V509G possibly damaging Het
Car7 G A 8: 105,275,056 (GRCm39) A165T probably damaging Het
Ccdc81 A G 7: 89,535,423 (GRCm39) V271A probably benign Het
Cdc40 G T 10: 40,723,164 (GRCm39) H302N probably damaging Het
Cep104 C T 4: 154,067,510 (GRCm39) probably benign Het
Cfap54 C A 10: 92,612,075 (GRCm39) S3161I probably benign Het
Chil5 A G 3: 105,942,282 (GRCm39) probably benign Het
Chil6 C T 3: 106,311,492 (GRCm39) G96D probably benign Het
Cnot1 T C 8: 96,475,483 (GRCm39) K531E probably damaging Het
Colgalt2 G T 1: 152,384,312 (GRCm39) A551S possibly damaging Het
Disp3 T G 4: 148,356,416 (GRCm39) E148A probably damaging Het
Eps8l2 A G 7: 140,922,893 (GRCm39) Y52C probably damaging Het
Exph5 C A 9: 53,285,643 (GRCm39) T908K probably benign Het
Fat4 C T 3: 39,031,562 (GRCm39) S2449F probably damaging Het
Faxc T A 4: 21,948,751 (GRCm39) N154K probably benign Het
Fbxo43 C T 15: 36,162,503 (GRCm39) A235T probably benign Het
Fnip1 A G 11: 54,371,180 (GRCm39) probably null Het
Fsd1l T C 4: 53,679,932 (GRCm39) L210P probably benign Het
Gm6420 A C 1: 23,295,119 (GRCm39) S123R unknown Het
Gm8801 T G 17: 36,258,268 (GRCm39) noncoding transcript Het
Gsap G A 5: 21,427,443 (GRCm39) probably benign Het
Hectd1 T A 12: 51,829,339 (GRCm39) I969L possibly damaging Het
Il21r G T 7: 125,229,012 (GRCm39) probably benign Het
Lrrc7 A G 3: 157,867,063 (GRCm39) F893L possibly damaging Het
Map2 A G 1: 66,472,739 (GRCm39) I1715V probably damaging Het
Mlh3 A G 12: 85,287,628 (GRCm39) I1339T possibly damaging Het
Nacad T C 11: 6,549,810 (GRCm39) D1127G probably benign Het
Noc3l A G 19: 38,806,371 (GRCm39) probably benign Het
Nup93 A G 8: 95,030,293 (GRCm39) D384G probably damaging Het
Or5m9b T A 2: 85,905,646 (GRCm39) C187* probably null Het
Or5p54 T C 7: 107,554,433 (GRCm39) I195T probably benign Het
Or8b40 C T 9: 38,027,547 (GRCm39) L152F probably benign Het
Pls1 A T 9: 95,668,972 (GRCm39) probably benign Het
Prkcb A T 7: 122,024,200 (GRCm39) H75L probably damaging Het
Rev1 A T 1: 38,113,449 (GRCm39) Y539* probably null Het
Rnf10 A T 5: 115,393,506 (GRCm39) probably benign Het
Rnpepl1 A G 1: 92,843,582 (GRCm39) Y234C probably damaging Het
Sdk2 T C 11: 113,741,717 (GRCm39) probably benign Het
Sec23b T A 2: 144,409,832 (GRCm39) M240K probably benign Het
Sema5a A T 15: 32,681,755 (GRCm39) N945Y probably damaging Het
Snapc4 C A 2: 26,257,228 (GRCm39) R799L probably benign Het
Spata31g1 A C 4: 42,972,203 (GRCm39) K512T probably damaging Het
Tctn3 T C 19: 40,599,860 (GRCm39) probably benign Het
Tex56 A T 13: 35,108,532 (GRCm39) I5L probably benign Het
Tfpt G A 7: 3,623,898 (GRCm39) Q50* probably null Het
Trim80 T C 11: 115,332,039 (GRCm39) V77A probably damaging Het
Trp73 T A 4: 154,148,841 (GRCm39) D256V possibly damaging Het
Utrn G T 10: 12,519,345 (GRCm39) N2202K probably benign Het
Vps13c T A 9: 67,858,926 (GRCm39) F2792Y 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
R0076:Gmfb UTSW 14 47,054,912 (GRCm39) missense probably benign 0.00
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'- TTGTAAGAAGGGAGCTGCCTCTGC -3'
(R):5'- TCCATGTGAGGAGCTGGTAAGAGTC -3'

Sequencing Primer
(F):5'- TGCTTAAGGAAGGCAGTTAAATC -3'
(R):5'- AATAATAAACAAGCAAGTTCCATGC -3'
Posted On 2013-05-09