Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01359:Fkrp'

75684

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Fkrp

Ensembl Gene

ENSMUSG00000048920

Gene Name

fukutin related protein

Synonyms

LGMD1I, MDC1C, A830029B19Rik

Accession Numbers

Essential gene?

Essential (E-score: 1.000) question?

Stock #

IGL01359

Quality Score

Status

Chromosome

Chromosomal Location

16543192-16550657 bp(-) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 16545415 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Arginine to Glutamine at position 149 (R149Q)

Ref Sequence

ENSEMBL: ENSMUSP00000059091 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000019220] [ENSMUST00000061390] [ENSMUST00000108495] [ENSMUST00000206259]

AlphaFold

Q8CG64

Predicted Effect

probably benign
Transcript: ENSMUST00000019220

SMART Domains

Protein: ENSMUSP00000019220
Gene: ENSMUSG00000030374

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	21	60	N/A	INTRINSIC
Pfam:Striatin	64	193	1.2e-44	PFAM
low complexity region	217	236	N/A	INTRINSIC
low complexity region	272	284	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC
low complexity region	367	382	N/A	INTRINSIC
low complexity region	416	429	N/A	INTRINSIC
WD40	434	473	5.72e-9	SMART
WD40	487	526	6.53e-4	SMART
WD40	540	579	6.99e-13	SMART
WD40	584	626	2.38e1	SMART
WD40	629	672	3.55e1	SMART
WD40	675	714	5.34e-9	SMART
WD40	717	760	1.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000061390
AA Change: R149Q

PolyPhen 2 Score 0.022 (Sensitivity: 0.95; Specificity: 0.81)

SMART Domains

Protein: ENSMUSP00000059091
Gene: ENSMUSG00000048920
AA Change: R149Q

Domain	Start	End	E-Value	Type
transmembrane domain	7	29	N/A	INTRINSIC
low complexity region	258	276	N/A	INTRINSIC
Pfam:LicD	334	374	1.5e-15	PFAM

Predicted Effect

probably benign
Transcript: ENSMUST00000108495

SMART Domains

Protein: ENSMUSP00000104135
Gene: ENSMUSG00000030374

Domain	Start	End	E-Value	Type
low complexity region	6	16	N/A	INTRINSIC
low complexity region	21	60	N/A	INTRINSIC
Pfam:Striatin	64	197	1.4e-45	PFAM
low complexity region	217	236	N/A	INTRINSIC
low complexity region	272	284	N/A	INTRINSIC
low complexity region	304	314	N/A	INTRINSIC
low complexity region	367	382	N/A	INTRINSIC
low complexity region	409	422	N/A	INTRINSIC
WD40	427	466	5.72e-9	SMART
WD40	480	519	6.53e-4	SMART
WD40	533	572	6.99e-13	SMART
WD40	577	619	2.38e1	SMART
WD40	622	665	3.55e1	SMART
WD40	668	707	5.34e-9	SMART
WD40	710	753	1.58e-2	SMART

Predicted Effect

probably benign
Transcript: ENSMUST00000184280

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205368

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000205677

Predicted Effect

probably benign
Transcript: ENSMUST00000206259

Coding Region Coverage

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] This gene encodes a protein which is targeted to the medial Golgi apparatus and is necessary for posttranslational modification of dystroglycan. Mutations in this gene have been associated with congenital muscular dystrophy, mental retardation, and cerebellar cysts. Several alternatively spliced transcript variants of this gene have been described, but the full-length nature of some of these variants has not been determined. [provided by RefSeq, Oct 2008]
PHENOTYPE: Mice homozygous for a knock-out allele die by E10.5. Mice homozygous for a knock-in allele exhibit a progressive muscular dystrophy phenotype, abnormal brain morphology, defecting neuron migration, reduced body weight, and abnormal eye morphology. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 47 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adgrf1	G	A	17: 43,621,577 (GRCm39)	E605K	probably damaging	Het
Adgrl4	G	A	3: 151,248,923 (GRCm39)	C737Y	probably damaging	Het
Ankk1	A	T	9: 49,327,328 (GRCm39)	I617N	possibly damaging	Het
B3gat2	T	C	1: 23,802,301 (GRCm39)	F196L	probably damaging	Het
Bcl2l14	T	A	6: 134,400,828 (GRCm39)	I83N	probably damaging	Het
Bcr	T	C	10: 74,995,611 (GRCm39)		probably benign	Het
Ckmt2	A	T	13: 92,009,939 (GRCm39)	I127N	probably damaging	Het
Dhx33	G	A	11: 70,884,687 (GRCm39)	Q40*	probably null	Het
Dnah11	T	C	12: 117,946,734 (GRCm39)	T3117A	probably damaging	Het
Dnai2	A	G	11: 114,642,614 (GRCm39)	Y405C	probably benign	Het
Emc2	A	G	15: 43,375,145 (GRCm39)	Y214C	probably damaging	Het
Fbxw2	T	C	2: 34,712,762 (GRCm39)	T100A	probably benign	Het
Fsd1l	A	G	4: 53,659,601 (GRCm39)	R153G	possibly damaging	Het
Galnt4	T	C	10: 98,945,459 (GRCm39)	Y395H	probably damaging	Het
Gk5	T	C	9: 96,019,842 (GRCm39)	L126P	probably damaging	Het
Gm973	A	G	1: 59,669,438 (GRCm39)	S830G	probably benign	Het
Gpc5	G	A	14: 115,607,162 (GRCm39)	G255S	possibly damaging	Het
Grk3	C	A	5: 113,085,626 (GRCm39)	S370I	probably damaging	Het
Herc1	A	G	9: 66,346,550 (GRCm39)	D1972G	probably benign	Het
Itih3	T	A	14: 30,639,729 (GRCm39)	D364V	probably damaging	Het
Lce1f	G	T	3: 92,626,491 (GRCm39)	C55*	probably null	Het
Ltn1	A	C	16: 87,202,581 (GRCm39)		probably benign	Het
Lyl1	C	T	8: 85,429,315 (GRCm39)	A8V	possibly damaging	Het
Mdn1	A	G	4: 32,743,686 (GRCm39)	E3974G	probably benign	Het
Msl3l2	T	C	10: 55,992,340 (GRCm39)	V355A	probably damaging	Het
Nadsyn1	T	C	7: 143,374,967 (GRCm39)	I30V	possibly damaging	Het
Nuggc	T	C	14: 65,860,656 (GRCm39)	V418A	probably damaging	Het
Or4f57	A	T	2: 111,791,406 (GRCm39)	M4K	probably benign	Het
Or52e8	T	C	7: 104,625,193 (GRCm39)		probably null	Het
Or52m2	A	T	7: 102,263,379 (GRCm39)	H272Q	probably benign	Het
Ppp4r3a	T	C	12: 101,024,755 (GRCm39)	E248G	probably damaging	Het
Rab3gap2	T	A	1: 184,971,067 (GRCm39)	V234E	probably damaging	Het
Radil	G	A	5: 142,529,468 (GRCm39)	T105I	probably damaging	Het
Saa4	A	G	7: 46,381,060 (GRCm39)	W21R	possibly damaging	Het
Sec62	G	A	3: 30,868,455 (GRCm39)	S228N	unknown	Het
Setd4	C	T	16: 93,388,127 (GRCm39)	G120S	probably damaging	Het
Sgpl1	G	A	10: 60,936,687 (GRCm39)	T556I	probably benign	Het
Slc14a2	T	C	18: 78,197,323 (GRCm39)	D811G	probably benign	Het
Slc26a11	A	T	11: 119,254,257 (GRCm39)	M192L	probably benign	Het
Spon1	A	T	7: 113,633,525 (GRCm39)	Q656L	probably damaging	Het
Tex15	A	G	8: 34,071,926 (GRCm39)	D2491G	probably damaging	Het
Tox	T	C	4: 6,697,583 (GRCm39)	T407A	probably damaging	Het
Ubr5	A	T	15: 37,973,250 (GRCm39)	I2611N	probably damaging	Het
Usp25	G	A	16: 76,856,141 (GRCm39)	A245T	probably damaging	Het
Vwa8	C	A	14: 79,302,353 (GRCm39)	Y1007*	probably null	Het
Zfp423	T	C	8: 88,507,290 (GRCm39)	H893R	probably damaging	Het
Zfp507	A	G	7: 35,493,927 (GRCm39)	I372T	probably damaging	Het

Other mutations in Fkrp

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
R1177:Fkrp	UTSW	7	16,544,452 (GRCm39)	missense	probably damaging	1.00
R1722:Fkrp	UTSW	7	16,544,719 (GRCm39)	missense	probably benign	0.20
R1984:Fkrp	UTSW	7	16,545,802 (GRCm39)	missense	probably benign	0.11
R2519:Fkrp	UTSW	7	16,544,877 (GRCm39)	nonsense	probably null
R5227:Fkrp	UTSW	7	16,544,635 (GRCm39)	missense	possibly damaging	0.95
R5566:Fkrp	UTSW	7	16,544,849 (GRCm39)	missense	probably damaging	1.00
R6513:Fkrp	UTSW	7	16,545,037 (GRCm39)	missense	possibly damaging	0.90
R6939:Fkrp	UTSW	7	16,545,751 (GRCm39)	missense	probably benign	0.00
R8861:Fkrp	UTSW	7	16,544,749 (GRCm39)	missense	probably damaging	1.00
R9054:Fkrp	UTSW	7	16,544,569 (GRCm39)	missense	probably damaging	1.00
R9718:Fkrp	UTSW	7	16,545,112 (GRCm39)	missense	probably benign	0.26

Posted On

2013-10-07