Mutagenetix > Incidental Mutation

Incidental Mutation 'R0257:Fktn'

34775

Institutional Source

Beutler Lab

Gene Symbol

Fktn

Ensembl Gene

ENSMUSG00000028414

Gene Name

fukutin

Synonyms

Fukutin, Fcmd

MMRRC Submission

038488-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R0257 (G1)

Quality Score

225

Status

Validated

Chromosome

Chromosomal Location

53713998-53777890 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53734898 bp (GRCm38)

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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

Domain	Start	End	E-Value	Type
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

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
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
Aatf	T	A	11: 84,510,281	E171D	probably benign	Het
Adgre5	T	A	8: 83,731,995	H134L	possibly damaging	Het
Ahsg	A	T	16: 22,899,040	M256L	probably benign	Het
Alk	A	T	17: 72,603,495	L72Q	probably damaging	Het
Ano2	C	A	6: 125,880,713	A505E	probably benign	Het
Bcas3	A	G	11: 85,822,039	K908E	probably benign	Het
C3ar1	A	G	6: 122,850,787	V157A	probably benign	Het
Car2	C	G	3: 14,899,977	H224D	probably benign	Het
Cfh	T	C	1: 140,144,035	D287G	probably benign	Het
Disp3	G	T	4: 148,250,754	N944K	possibly damaging	Het
Dlg1	A	G	16: 31,842,853		probably benign	Het
Dmbt1	A	G	7: 131,106,393	E1281G	probably damaging	Het
Dmxl1	T	A	18: 49,955,803		probably benign	Het
Dtx3	T	C	10: 127,192,892	D159G	probably benign	Het
Ets2	T	A	16: 95,712,201	C140*	probably null	Het
Fbf1	T	C	11: 116,155,091	I226V	probably benign	Het
Fgd6	T	A	10: 94,043,915	H210Q	probably benign	Het
Galnt10	T	C	11: 57,781,078	M398T	probably damaging	Het
Grk5	G	T	19: 61,076,630		probably benign	Het
Gse1	A	G	8: 120,572,334		probably benign	Het
Hmcn2	T	C	2: 31,369,164		probably benign	Het
Iqgap2	A	G	13: 95,724,544		probably null	Het
Lama4	T	C	10: 39,094,884		probably benign	Het
Luzp2	A	G	7: 55,249,446	T271A	probably benign	Het
Mdn1	T	A	4: 32,693,534	V1053D	probably damaging	Het
Mrm1	A	C	11: 84,814,823		probably benign	Het
Msh5	G	C	17: 35,032,864	R407G	probably damaging	Het
Myo1c	A	T	11: 75,665,516		probably null	Het
Nek5	T	C	8: 22,123,672		probably benign	Het
Nrxn2	A	G	19: 6,490,698	I894V	possibly damaging	Het
Olfr372	C	T	8: 72,058,400	T240M	probably damaging	Het
Pde4a	C	T	9: 21,192,421	P175L	probably damaging	Het
Pip5k1c	C	A	10: 81,315,096	A628E	possibly damaging	Het
Piwil2	C	T	14: 70,422,631	S139N	probably benign	Het
Prob1	T	C	18: 35,653,039	K721E	possibly damaging	Het
Rps6ka2	C	A	17: 7,227,983	S57Y	probably damaging	Het
Rxfp1	C	T	3: 79,682,535	V100M	possibly damaging	Het
Serpinb9e	A	T	13: 33,257,681	M199L	probably benign	Het
Slc17a3	C	T	13: 23,855,858	S293F	probably damaging	Het
Slc4a8	G	A	15: 100,784,880		probably benign	Het
Sned1	A	T	1: 93,265,097	S369C	possibly damaging	Het
St18	T	A	1: 6,819,962	F539L	probably benign	Het
Stam2	C	T	2: 52,694,782	G500D	possibly damaging	Het
Stx16	G	A	2: 174,096,961	V307M	probably benign	Het
Svep1	G	A	4: 58,179,610	S211L	possibly damaging	Het
Tcf12	C	T	9: 71,858,622	S512N	probably benign	Het
Tiam2	T	C	17: 3,450,813	V909A	possibly damaging	Het
Tmem64	C	T	4: 15,266,343	A131V	probably damaging	Het
Tnrc6b	C	A	15: 80,894,355	N1176K	possibly damaging	Het
Trrap	C	T	5: 144,804,235	S1264L	probably benign	Het
Ttn	T	A	2: 76,810,431	T13658S	possibly damaging	Het
Vmn2r104	G	A	17: 20,029,627	T794I	probably damaging	Het
Vmn2r52	T	A	7: 10,171,055	R286*	probably null	Het
Vps53	A	T	11: 76,177,385		probably benign	Het
Wdr18	A	G	10: 79,961,119		probably benign	Het
Wdr31	A	G	4: 62,460,518		probably null	Het
Zfp458	T	A	13: 67,259,642	K47*	probably null	Het
Zfp983	A	G	17: 21,661,440	T95A	probably benign	Het

Other mutations in Fktn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
IGL03149:Fktn	APN	4	53744653	missense	probably benign
IGL03310:Fktn	APN	4	53720120	nonsense	probably null
beijing	UTSW	4	53734880	missense	probably damaging	1.00
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
R8819:Fktn	UTSW	4	53735001	missense	possibly damaging	0.71
R8820:Fktn	UTSW	4	53735001	missense	possibly damaging	0.71
R9082:Fktn	UTSW	4	53720010	missense	unknown
R9142:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9237:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9238:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9240:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9241:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9242:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9243:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9256:Fktn	UTSW	4	53744653	missense	probably benign
R9360:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9361:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9363:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9418:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9420:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9421:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9431:Fktn	UTSW	4	53734854	missense	probably benign	0.03
R9634:Fktn	UTSW	4	53761230	missense	probably benign
R9653:Fktn	UTSW	4	53731273	missense	probably benign	0.10
R9798:Fktn	UTSW	4	53747128	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