Incidental Mutation 'IGL03149:Fktn'
ID411023
Institutional Source Australian Phenomics Network (link to record)
Gene Symbol Fktn
Ensembl Gene ENSMUSG00000028414
Gene Namefukutin
SynonymsFukutin, Fcmd
Accession Numbers
Is this an essential gene? Essential (E-score: 1.000) question?
Stock #IGL03149
Quality Score
Status
Chromosome4
Chromosomal Location53713998-53777890 bp(+) (GRCm38)
Type of Mutationmissense
DNA Base Change (assembly) T to C at 53744653 bp
ZygosityHeterozygous
Amino Acid Change Valine to Alanine at position 311 (V311A)
Ref Sequence ENSEMBL: ENSMUSP00000152867 (fasta)
Gene Model predicted gene model for transcript(s): [ENSMUST00000061771] [ENSMUST00000107638] [ENSMUST00000128667] [ENSMUST00000221657] [ENSMUST00000222290]
Predicted Effect probably benign
Transcript: ENSMUST00000061771
AA Change: V272A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000061489
Gene: ENSMUSG00000028414
AA Change: V272A

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: V272A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
SMART Domains Protein: ENSMUSP00000114699
Gene: ENSMUSG00000028414
AA Change: V272A

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: V311A

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)
Predicted Effect probably benign
Transcript: ENSMUST00000222290
Coding Region Coverage
Validation Efficiency
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: 56 list
GeneRefVarChr/LocMutationPredicted EffectZygosity
Arhgap10 A G 8: 77,409,538 probably benign Het
Arhgap42 A G 9: 9,008,084 I546T possibly damaging Het
Arsj A T 3: 126,439,404 probably benign Het
Ash2l A G 8: 25,818,622 V543A probably benign Het
B4galnt3 A G 6: 120,231,594 probably benign Het
Blvra T A 2: 127,082,951 V11E probably damaging Het
Calcb T C 7: 114,720,136 L51P probably damaging Het
Cd36 T A 5: 17,820,565 K52N probably benign Het
Cebpz T C 17: 78,922,553 N857S probably benign Het
Ces1b A G 8: 93,064,874 probably benign Het
Clspn T C 4: 126,576,502 probably benign Het
Cr2 A T 1: 195,166,366 L283H probably damaging Het
Ctc1 T C 11: 69,031,161 V811A possibly damaging Het
Ctsk T C 3: 95,501,419 S65P possibly damaging Het
Ddx51 A G 5: 110,653,734 N83D probably benign Het
Eci2 T C 13: 34,988,313 T146A probably benign Het
Erbin T C 13: 103,841,163 N629D possibly damaging Het
Etfbkmt A G 6: 149,144,283 E45G probably damaging Het
Fat4 A G 3: 38,991,685 N3951S probably damaging Het
Garem1 G T 18: 21,131,466 P534T probably damaging Het
Gm8237 A G 14: 5,864,451 I37T probably benign Het
Ikzf5 T C 7: 131,396,765 K13E probably damaging Het
Kl T A 5: 150,982,735 C523* probably null Het
Klhl7 G A 5: 24,159,689 V574I probably benign Het
Lyst T C 13: 13,681,444 V2450A probably benign Het
Map3k6 A T 4: 133,249,688 I819F probably damaging Het
Mphosph9 T C 5: 124,263,011 E891G probably damaging Het
Myo7b A G 18: 32,014,302 S63P probably damaging Het
Ndufaf7 C T 17: 78,945,010 R283C possibly damaging Het
Nepro G T 16: 44,727,099 A60S probably damaging Het
Nop56 T C 2: 130,277,525 S354P probably damaging Het
Nwd2 T A 5: 63,805,995 L974H probably damaging Het
Olfr1253 T C 2: 89,752,828 probably null Het
Olfr600 A T 7: 103,346,849 H26Q probably benign Het
Pacsin3 T A 2: 91,261,507 probably benign Het
Parp12 C T 6: 39,114,231 D142N probably benign Het
Pcdh15 G A 10: 74,630,695 D1449N probably damaging Het
Pcsk7 C T 9: 45,909,480 T70M probably benign Het
Pld4 T C 12: 112,766,829 F280L probably benign Het
Ppm1k C A 6: 57,524,774 A135S probably damaging Het
Prkcq A T 2: 11,232,545 Y45F probably benign Het
Prom1 T A 5: 44,029,734 I385F probably damaging Het
Prss12 A G 3: 123,505,387 N603D probably benign Het
Ptbp2 G T 3: 119,720,425 T501K possibly damaging Het
Ranbp17 C A 11: 33,243,183 R957L possibly damaging Het
Rasl10a T C 11: 5,058,429 Y42H possibly damaging Het
Serpina9 G A 12: 104,008,610 Q95* probably null Het
Serpinb1b C A 13: 33,085,292 Q3K possibly damaging Het
Sgo2b T A 8: 63,926,583 M1072L probably benign Het
Slc1a5 T C 7: 16,789,820 V250A probably damaging Het
Slc30a6 T C 17: 74,423,023 S303P probably damaging Het
Tbc1d2 A T 4: 46,637,619 I209N probably benign Het
Tmc4 T A 7: 3,667,178 I484L probably benign Het
Ttll5 G A 12: 85,918,984 E36K probably damaging Het
Unc93b1 A G 19: 3,944,041 M391V probably benign Het
Xpo5 T A 17: 46,215,814 probably null Het
Other mutations in Fktn
AlleleSourceChrCoordTypePredicted EffectPPH Score
IGL00468:Fktn APN 4 53734866 missense probably benign 0.17
IGL00562:Fktn APN 4 53747007 critical splice acceptor site probably null
IGL00563:Fktn APN 4 53747007 critical splice acceptor site probably null
IGL00972:Fktn APN 4 53734992 missense probably damaging 1.00
IGL01025:Fktn APN 4 53737568 missense possibly damaging 0.51
IGL02329:Fktn APN 4 53720181 missense probably benign 0.40
IGL03310:Fktn APN 4 53720120 nonsense probably null
beijing UTSW 4 53734880 missense probably damaging 1.00
R0257:Fktn UTSW 4 53734898 missense probably benign 0.09
R0311:Fktn UTSW 4 53744620 missense probably benign 0.10
R1368:Fktn UTSW 4 53734880 missense probably damaging 1.00
R1500:Fktn UTSW 4 53735065 missense probably benign
R1654:Fktn UTSW 4 53761220 missense probably benign 0.01
R1757:Fktn UTSW 4 53747003 splice site probably benign
R2007:Fktn UTSW 4 53735099 missense possibly damaging 0.56
R4308:Fktn UTSW 4 53724617 intron probably benign
R4374:Fktn UTSW 4 53720201 missense probably damaging 0.99
R4798:Fktn UTSW 4 53744637 missense probably benign 0.01
R5563:Fktn UTSW 4 53761327 missense probably damaging 1.00
R5913:Fktn UTSW 4 53735035 nonsense probably null
R5997:Fktn UTSW 4 53735061 missense probably benign 0.00
R6227:Fktn UTSW 4 53731136 missense probably benign
R6942:Fktn UTSW 4 53735128 critical splice donor site probably null
R7832:Fktn UTSW 4 53734859 missense probably benign
Posted On2016-08-02