Mutagenetix > Incidental Mutation

Incidental Mutation 'R5997:Fktn'

480602

Institutional Source

Beutler Lab

Gene Symbol

Fktn

Ensembl Gene

ENSMUSG00000028414

Gene Name

fukutin

Synonyms

Fcmd, Fukutin

MMRRC Submission

044176-MU

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

R5997 (G1)

Quality Score

225.009

Status

Validated

Chromosome

Chromosomal Location

53713745-53765785 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 53735061 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Histidine to Arginine at position 233 (H233R)

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: H194R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000061489
Gene: ENSMUSG00000028414
AA Change: H194R

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: H194R

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000114699
Gene: ENSMUSG00000028414
AA Change: H194R

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: H233R

PolyPhen 2 Score 0.002 (Sensitivity: 0.99; Specificity: 0.30)

Predicted Effect

probably benign
Transcript: ENSMUST00000222290

Coding Region Coverage

1x: 99.8%
3x: 99.4%
10x: 97.1%
20x: 90.5%

Validation Efficiency

100% (78/78)

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: 78 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Abcb9	A	T	5: 124,227,878 (GRCm39)	V121E	possibly damaging	Het
Acsbg3	A	T	17: 57,183,373 (GRCm39)	D38V	probably benign	Het
Adamts20	T	A	15: 94,277,628 (GRCm39)	Y278F	probably damaging	Het
Adcy7	A	T	8: 89,053,020 (GRCm39)	D972V	probably benign	Het
Adgrf3	C	A	5: 30,403,360 (GRCm39)		probably null	Het
Ahdc1	G	T	4: 132,791,206 (GRCm39)	G816C	probably benign	Het
Aifm3	A	G	16: 17,319,994 (GRCm39)	K283E	probably benign	Het
Akap6	T	C	12: 52,984,016 (GRCm39)		probably null	Het
Ank1	T	C	8: 23,589,678 (GRCm39)	L593P	probably damaging	Het
Apol11b	T	A	15: 77,519,697 (GRCm39)	T128S	probably benign	Het
C1qtnf7	C	A	5: 43,773,427 (GRCm39)	T235K	probably damaging	Het
Camk2a	A	T	18: 61,111,029 (GRCm39)	I73F	probably damaging	Het
Ccdc121rt3	C	T	5: 112,502,874 (GRCm39)	V277M	possibly damaging	Het
Cd109	G	T	9: 78,612,344 (GRCm39)	V1244F	possibly damaging	Het
Cep164	A	G	9: 45,680,761 (GRCm39)	L1240S	possibly damaging	Het
Cnga1	T	A	5: 72,761,918 (GRCm39)	D532V	probably damaging	Het
Cyp4a14	A	T	4: 115,353,297 (GRCm39)	L5*	probably null	Het
Cyp4a30b	A	T	4: 115,316,588 (GRCm39)	K405*	probably null	Het
Dchs1	T	C	7: 105,403,302 (GRCm39)	D3080G	probably benign	Het
Ddx1	T	C	12: 13,287,800 (GRCm39)	D168G	probably damaging	Het
Dhx57	T	G	17: 80,553,235 (GRCm39)	K1231Q	probably damaging	Het
Dnah14	A	G	1: 181,597,670 (GRCm39)	N3640D	probably benign	Het
Dock4	T	A	12: 40,805,833 (GRCm39)	L935Q	probably damaging	Het
Dus2	A	T	8: 106,772,698 (GRCm39)	R269S	probably benign	Het
E230025N22Rik	G	A	18: 36,822,161 (GRCm39)	R201C	possibly damaging	Het
Erbb3	G	A	10: 128,419,054 (GRCm39)	T269M	probably damaging	Het
Fbxo43	T	C	15: 36,162,239 (GRCm39)	R323G	probably damaging	Het
Ftsj3	A	T	11: 106,143,077 (GRCm39)	D412E	probably damaging	Het
Fzd7	A	T	1: 59,523,703 (GRCm39)	M529L	probably benign	Het
Fzr1	T	A	10: 81,206,660 (GRCm39)		probably null	Het
Ganc	T	G	2: 120,261,086 (GRCm39)	V257G	possibly damaging	Het
Garin1a	T	A	6: 29,290,423 (GRCm39)	L267*	probably null	Het
Gm4131	T	C	14: 62,702,207 (GRCm39)	K254E	probably damaging	Het
Gm7347	G	T	5: 26,262,247 (GRCm39)	Y91*	probably null	Het
Gm9857	G	A	3: 108,847,481 (GRCm39)		probably benign	Het
Grpel1	T	C	5: 36,622,592 (GRCm39)	S19P	probably benign	Het
Gtf3c4	T	C	2: 28,723,723 (GRCm39)	K670E	possibly damaging	Het
H2bc7	G	A	13: 23,758,277 (GRCm39)		probably benign	Het
Hmcn1	G	T	1: 150,579,924 (GRCm39)	Q1938K	possibly damaging	Het
Hnrnpk	T	C	13: 58,546,971 (GRCm39)	D71G	probably damaging	Het
Hspa4l	G	A	3: 40,722,411 (GRCm39)	R311H	probably damaging	Het
Igkv3-5	T	A	6: 70,640,688 (GRCm39)	F56L	probably benign	Het
Igkv6-20	T	A	6: 70,312,898 (GRCm39)	T92S	possibly damaging	Het
Krt8	C	T	15: 101,909,029 (GRCm39)	V200I	possibly damaging	Het
Lamb2	A	T	9: 108,357,587 (GRCm39)	T66S	possibly damaging	Het
Lamp3	A	G	16: 19,519,778 (GRCm39)	L135S	probably benign	Het
Lrguk	A	G	6: 34,106,078 (GRCm39)	Y701C	probably damaging	Het
Mcc	G	T	18: 44,582,388 (GRCm39)	L588M	probably damaging	Het
Mcidas	T	A	13: 113,135,120 (GRCm39)	L234Q	probably damaging	Het
Mtmr14	T	A	6: 113,257,575 (GRCm39)	L208Q	probably damaging	Het
Myof	A	G	19: 37,893,747 (GRCm39)	F1139L	possibly damaging	Het
Nlrp14	C	A	7: 106,781,703 (GRCm39)	T300K	probably benign	Het
Or2d36	A	T	7: 106,746,535 (GRCm39)	E4V	possibly damaging	Het
Or2m13	T	A	16: 19,226,694 (GRCm39)	H24L	probably benign	Het
Or5b118	A	G	19: 13,448,870 (GRCm39)	I179V	probably benign	Het
Or8b41	A	T	9: 38,055,097 (GRCm39)	Y217F	probably damaging	Het
Orc2	A	G	1: 58,511,547 (GRCm39)	I354T	probably damaging	Het
Pard3b	G	T	1: 62,115,568 (GRCm39)	S140I	probably damaging	Het
Pcgf5	A	G	19: 36,412,003 (GRCm39)	D49G	probably benign	Het
Pcsk6	T	C	7: 65,609,041 (GRCm39)	F388S	probably damaging	Het
Prokr2	A	C	2: 132,223,362 (GRCm39)	I60S	probably damaging	Het
Rab33b	A	G	3: 51,391,900 (GRCm39)	T50A	possibly damaging	Het
Rbms3	T	C	9: 116,548,457 (GRCm39)	D61G	probably damaging	Het
Rhcg	T	A	7: 79,250,262 (GRCm39)	K274*	probably null	Het
Rnf112	C	T	11: 61,341,848 (GRCm39)	V319M	possibly damaging	Het
Rnf44	A	T	13: 54,830,613 (GRCm39)	S265T	possibly damaging	Het
Sf3a3	A	G	4: 124,615,851 (GRCm39)	D168G	probably damaging	Het
Sik2	A	G	9: 50,806,642 (GRCm39)		probably null	Het
Slco1a5	T	A	6: 142,198,839 (GRCm39)	L275F	probably benign	Het
Smtnl1	T	C	2: 84,645,722 (GRCm39)	H383R	probably damaging	Het
Spns3	T	G	11: 72,429,904 (GRCm39)	T175P	probably damaging	Het
Togaram1	A	G	12: 65,042,312 (GRCm39)	T1174A	probably benign	Het
Tradd	C	T	8: 105,987,277 (GRCm39)	E10K	possibly damaging	Het
Ttc7b	A	T	12: 100,339,819 (GRCm39)	Y579N	probably damaging	Het
Uncx	G	A	5: 139,533,344 (GRCm39)	G470R	probably damaging	Het
Vav3	T	A	3: 109,408,777 (GRCm39)	M177K	probably damaging	Het
Wfs1	A	T	5: 37,125,094 (GRCm39)	I599N	probably damaging	Het
Zfp454	G	A	11: 50,764,449 (GRCm39)	H217Y	probably damaging	Het

Other mutations in Fktn

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH 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
R0257:Fktn	UTSW	4	53,734,898 (GRCm39)	missense	probably benign	0.09
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
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'- GGGTTTCAATGCCTAAAGACTG -3'
(R):5'- TGAGACACTCACCACTGTGG -3'

Sequencing Primer
(F):5'- CTGAAAGCAAGGATCCTCGGC -3'
(R):5'- GCAGAATCACAGTGGATTTCCCTG -3'

Posted On

2017-06-26