Incidental Mutation 'R0257:Fktn'
ID 34775
Institutional Source Beutler Lab
Gene Symbol Fktn
Ensembl Gene ENSMUSG00000028414
Gene Name fukutin
Synonyms Fcmd, Fukutin
MMRRC Submission 038488-MU
Accession Numbers
Essential gene? Essential (E-score: 1.000) question?
Stock # R0257 (G1)
Quality Score 225
Status Validated
Chromosome 4
Chromosomal Location 53713745-53765785 bp(+) (GRCm39)
Type of Mutation missense
DNA Base Change (assembly) A to G at 53734898 bp (GRCm39)
Zygosity Heterozygous
Amino Acid Change Threonine to Alanine at position 179 (T179A)
Ref Sequence ENSEMBL: ENSMUSP00000152867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061771] [ENSMUST00000107638] [ENSMUST00000128667] [ENSMUST00000221657] [ENSMUST00000222290]
AlphaFold Q8R507
Predicted Effect probably benign
Transcript: ENSMUST00000061771
AA Change: T140A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000061489
Gene: ENSMUSG00000028414
AA Change: T140A

DomainStartEndE-ValueType
transmembrane domain 7 28 N/A INTRINSIC
Pfam:LicD 288 393 2.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000107638
SMART Domains Protein: ENSMUSP00000138774
Gene: ENSMUSG00000028414

DomainStartEndE-ValueType
transmembrane domain 7 28 N/A INTRINSIC
Predicted Effect probably benign
Transcript: ENSMUST00000128667
AA Change: T140A

PolyPhen 2 Score 0.006 (Sensitivity: 0.97; Specificity: 0.75)
SMART Domains Protein: ENSMUSP00000114699
Gene: ENSMUSG00000028414
AA Change: T140A

DomainStartEndE-ValueType
transmembrane domain 7 28 N/A INTRINSIC
Pfam:LicD 288 393 2.4e-10 PFAM
Predicted Effect probably benign
Transcript: ENSMUST00000221657
AA Change: T179A

PolyPhen 2 Score 0.092 (Sensitivity: 0.93; Specificity: 0.85)
Predicted Effect probably benign
Transcript: ENSMUST00000222290
Meta Mutation Damage Score 0.0898 question?
Coding Region Coverage
  • 1x: 98.5%
  • 3x: 97.5%
  • 10x: 95.7%
  • 20x: 92.2%
Validation Efficiency 99% (67/68)
MGI Phenotype FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] The protein encoded by this gene is a putative transmembrane protein that is localized to the cis-Golgi compartment, where it may be involved in the glycosylation of alpha-dystroglycan in skeletal muscle. The encoded protein is thought to be a glycosyltransferase and could play a role in brain development. Defects in this gene are a cause of Fukuyama-type congenital muscular dystrophy (FCMD), Walker-Warburg syndrome (WWS), limb-girdle muscular dystrophy type 2M (LGMD2M), and dilated cardiomyopathy type 1X (CMD1X). Alternatively spliced transcript variants have been found for this gene. [provided by RefSeq, Nov 2010]
PHENOTYPE: Homozygous null mice die by E9.5. Embryos exhibit diverse phenotypes such as growth retardation, folding of the egg cylinder, leakage of maternal red blood cells into the yolk sac cavity, increased number of apoptotic cells in the ectoderm, and thin and breached basement membranes. [provided by MGI curators]
Allele List at MGI
Other mutations in this stock
Total: 59 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Aatf T A 11: 84,401,107 (GRCm39) E171D probably benign Het
Acsbg3 T A 17: 57,192,169 (GRCm39) Y577* probably null Het
Adgre5 T A 8: 84,458,624 (GRCm39) H134L possibly damaging Het
Ahsg A T 16: 22,717,790 (GRCm39) M256L probably benign Het
Alk A T 17: 72,910,490 (GRCm39) L72Q probably damaging Het
Ano2 C A 6: 125,857,676 (GRCm39) A505E probably benign Het
Bcas3 A G 11: 85,712,865 (GRCm39) K908E probably benign Het
C3ar1 A G 6: 122,827,746 (GRCm39) V157A probably benign Het
Car2 C G 3: 14,965,037 (GRCm39) H224D probably benign Het
Cfh T C 1: 140,071,773 (GRCm39) D287G probably benign Het
Disp3 G T 4: 148,335,211 (GRCm39) N944K possibly damaging Het
Dlg1 A G 16: 31,661,671 (GRCm39) probably benign Het
Dmbt1 A G 7: 130,708,123 (GRCm39) E1281G probably damaging Het
Dmxl1 T A 18: 50,088,870 (GRCm39) probably benign Het
Dtx3 T C 10: 127,028,761 (GRCm39) D159G probably benign Het
Ets2 T A 16: 95,513,245 (GRCm39) C140* probably null Het
Fbf1 T C 11: 116,045,917 (GRCm39) I226V probably benign Het
Fgd6 T A 10: 93,879,777 (GRCm39) H210Q probably benign Het
Galnt10 T C 11: 57,671,904 (GRCm39) M398T probably damaging Het
Grk5 G T 19: 61,065,068 (GRCm39) probably benign Het
Gse1 A G 8: 121,299,073 (GRCm39) probably benign Het
Hmcn2 T C 2: 31,259,176 (GRCm39) probably benign Het
Iqgap2 A G 13: 95,861,052 (GRCm39) probably null Het
Lama4 T C 10: 38,970,880 (GRCm39) probably benign Het
Luzp2 A G 7: 54,899,194 (GRCm39) T271A probably benign Het
Mdn1 T A 4: 32,693,534 (GRCm39) V1053D probably damaging Het
Mrm1 A C 11: 84,705,649 (GRCm39) probably benign Het
Msh5 G C 17: 35,251,840 (GRCm39) R407G probably damaging Het
Myo1c A T 11: 75,556,342 (GRCm39) probably null Het
Nek5 T C 8: 22,613,688 (GRCm39) probably benign Het
Nrxn2 A G 19: 6,540,728 (GRCm39) I894V possibly damaging Het
Or2z8 C T 8: 72,812,244 (GRCm39) T240M probably damaging Het
Pde4a C T 9: 21,103,717 (GRCm39) P175L probably damaging Het
Pip5k1c C A 10: 81,150,930 (GRCm39) A628E possibly damaging Het
Piwil2 C T 14: 70,660,080 (GRCm39) S139N probably benign Het
Prob1 T C 18: 35,786,092 (GRCm39) K721E possibly damaging Het
Rps6ka2 C A 17: 7,495,382 (GRCm39) S57Y probably damaging Het
Rxfp1 C T 3: 79,589,842 (GRCm39) V100M possibly damaging Het
Serpinb9e A T 13: 33,441,664 (GRCm39) M199L probably benign Het
Slc17a3 C T 13: 24,039,841 (GRCm39) S293F probably damaging Het
Slc4a8 G A 15: 100,682,761 (GRCm39) probably benign Het
Sned1 A T 1: 93,192,819 (GRCm39) S369C possibly damaging Het
St18 T A 1: 6,890,186 (GRCm39) F539L probably benign Het
Stam2 C T 2: 52,584,794 (GRCm39) G500D possibly damaging Het
Stx16 G A 2: 173,938,754 (GRCm39) V307M probably benign Het
Svep1 G A 4: 58,179,610 (GRCm39) S211L possibly damaging Het
Tcf12 C T 9: 71,765,904 (GRCm39) S512N probably benign Het
Tiam2 T C 17: 3,501,088 (GRCm39) V909A possibly damaging Het
Tmem64 C T 4: 15,266,343 (GRCm39) A131V probably damaging Het
Tnrc6b C A 15: 80,778,556 (GRCm39) N1176K possibly damaging Het
Trrap C T 5: 144,741,045 (GRCm39) S1264L probably benign Het
Ttn T A 2: 76,640,775 (GRCm39) T13658S possibly damaging Het
Vmn2r104 G A 17: 20,249,889 (GRCm39) T794I probably damaging Het
Vmn2r52 T A 7: 9,904,982 (GRCm39) R286* probably null Het
Vps53 A T 11: 76,068,211 (GRCm39) probably benign Het
Wdr18 A G 10: 79,796,953 (GRCm39) probably benign Het
Wdr31 A G 4: 62,378,755 (GRCm39) probably null Het
Zfp458 T A 13: 67,407,706 (GRCm39) K47* probably null Het
Zfp983 A G 17: 21,880,356 (GRCm39) T95A probably benign Het
Other mutations in Fktn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Fktn APN 4 53,734,866 (GRCm39) missense probably benign 0.17
IGL00562:Fktn APN 4 53,747,007 (GRCm39) critical splice acceptor site probably null
IGL00563:Fktn APN 4 53,747,007 (GRCm39) critical splice acceptor site probably null
IGL00972:Fktn APN 4 53,734,992 (GRCm39) missense probably damaging 1.00
IGL01025:Fktn APN 4 53,737,568 (GRCm39) missense possibly damaging 0.51
IGL02329:Fktn APN 4 53,720,181 (GRCm39) missense probably benign 0.40
IGL03149:Fktn APN 4 53,744,653 (GRCm39) missense probably benign
IGL03310:Fktn APN 4 53,720,120 (GRCm39) nonsense probably null
beijing UTSW 4 53,734,880 (GRCm39) missense probably damaging 1.00
R0311:Fktn UTSW 4 53,744,620 (GRCm39) missense probably benign 0.10
R1368:Fktn UTSW 4 53,734,880 (GRCm39) missense probably damaging 1.00
R1500:Fktn UTSW 4 53,735,065 (GRCm39) missense probably benign
R1654:Fktn UTSW 4 53,761,220 (GRCm39) missense probably benign 0.01
R1757:Fktn UTSW 4 53,747,003 (GRCm39) splice site probably benign
R2007:Fktn UTSW 4 53,735,099 (GRCm39) missense possibly damaging 0.56
R4308:Fktn UTSW 4 53,724,617 (GRCm39) intron probably benign
R4374:Fktn UTSW 4 53,720,201 (GRCm39) missense probably damaging 0.99
R4798:Fktn UTSW 4 53,744,637 (GRCm39) missense probably benign 0.01
R5563:Fktn UTSW 4 53,761,327 (GRCm39) missense probably damaging 1.00
R5913:Fktn UTSW 4 53,735,035 (GRCm39) nonsense probably null
R5997:Fktn UTSW 4 53,735,061 (GRCm39) missense probably benign 0.00
R6227:Fktn UTSW 4 53,731,136 (GRCm39) missense probably benign
R6942:Fktn UTSW 4 53,735,128 (GRCm39) critical splice donor site probably null
R7832:Fktn UTSW 4 53,734,859 (GRCm39) missense probably benign
R8819:Fktn UTSW 4 53,735,001 (GRCm39) missense possibly damaging 0.71
R8820:Fktn UTSW 4 53,735,001 (GRCm39) missense possibly damaging 0.71
R9082:Fktn UTSW 4 53,720,010 (GRCm39) missense unknown
R9142:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9237:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9238:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9240:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9241:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9242:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9243:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9256:Fktn UTSW 4 53,744,653 (GRCm39) missense probably benign
R9360:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9361:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9363:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9418:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9420:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9421:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9431:Fktn UTSW 4 53,734,854 (GRCm39) missense probably benign 0.03
R9634:Fktn UTSW 4 53,761,230 (GRCm39) missense probably benign
R9653:Fktn UTSW 4 53,731,273 (GRCm39) missense probably benign 0.10
R9798:Fktn UTSW 4 53,747,128 (GRCm39) missense probably damaging 1.00
Predicted Primers PCR Primer
(F):5'- AGGGACAGTCTCCATTCTCCACAG -3'
(R):5'- TTGAGTCGTAGGTGACCATGCCAG -3'

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