Mutagenetix > Incidental Mutations

Incidental Mutation 'R1066:Mkln1'

85997

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

039152-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R1066 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to C at 31418987 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Threonine at position 52 (N52T)

Ref Sequence

ENSEMBL: ENSMUSP00000026699 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026699]

AlphaFold

O89050

PDB Structure

The crystal structure of discoidin domain from muskelin [X-RAY DIFFRACTION]

Predicted Effect

possibly damaging
Transcript: ENSMUST00000026699
AA Change: N52T

PolyPhen 2 Score 0.845 (Sensitivity: 0.83; Specificity: 0.93)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: N52T

Domain	Start	End	E-Value	Type
Pfam:F5_F8_type_C	20	150	5.8e-11	PFAM
LisH	172	204	4.68e-3	SMART
CTLH	206	258	5.29e-2	SMART
Pfam:Kelch_4	270	324	5.8e-7	PFAM
Pfam:Kelch_1	279	315	2.2e-8	PFAM
Pfam:Kelch_3	282	334	7.6e-13	PFAM
Pfam:Kelch_1	459	498	2.8e-6	PFAM

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000133182

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154954

Coding Region Coverage

1x: 99.3%
3x: 98.7%
10x: 97.1%
20x: 94.1%

Validation Efficiency

MGI Phenotype

FUNCTION: [Summary is not available for the mouse gene. This summary is for the human ortholog.] Muskelin is an intracellular protein that acts as a mediator of cell spreading and cytoskeletal responses to the extracellular matrix component thrombospondin I (MIM 188060) (Adams et al., 1998 [PubMed 9724633]).[supplied by OMIM, Mar 2008]
PHENOTYPE: Mice homozygous for a gene trap allele exhibit abnormal high-frequency ripple oscillation associated with GABA receptor internalization, intracellular trafficking, and degradation. [provided by MGI curators]

Allele List at MGI

Other mutations in this stock

Total: 37 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adamts8	T	A	9: 30,956,541	C554S	probably damaging	Het
Adarb2	T	G	13: 8,757,323	F720C	probably benign	Het
Arid5b	T	C	10: 68,098,356	D572G	probably benign	Het
BB014433	C	T	8: 15,042,185	V223M	probably damaging	Het
Boc	T	C	16: 44,490,684		probably null	Het
Brf2	T	C	8: 27,123,946	E404G	probably benign	Het
Ces3a	T	A	8: 105,055,656	H380Q	probably benign	Het
Chd9	T	A	8: 90,986,136	Y389*	probably null	Het
Csmd3	A	G	15: 47,913,965	F1182L	probably damaging	Het
Dnah2	C	A	11: 69,447,819	W3169L	probably damaging	Het
Dnah3	T	A	7: 120,061,009	E802D	probably damaging	Het
Dtx4	G	T	19: 12,501,009	T70K	probably damaging	Het
Fat4	T	C	3: 38,957,227	Y2159H	probably damaging	Het
Flrt2	T	A	12: 95,779,059	V57E	probably damaging	Het
Gm11487	C	A	4: 73,401,829	V238L	possibly damaging	Het
Gsdmc2	T	A	15: 63,825,050	Y424F	possibly damaging	Het
Igfn1	T	C	1: 135,970,725	E701G	probably benign	Het
Klhl42	T	C	6: 147,107,899	V412A	probably benign	Het
Mpp6	A	T	6: 50,145,867	N31I	possibly damaging	Het
Myo15b	A	T	11: 115,879,751	M1519L	probably benign	Het
Nup155	A	T	15: 8,157,760	H1391L	probably damaging	Het
Olfr1467	T	C	19: 13,365,087	M153T	probably benign	Het
P4ha3	G	T	7: 100,318,063	V360L	possibly damaging	Het
Phf14	T	A	6: 11,987,255	D611E	possibly damaging	Het
Pik3r1	T	A	13: 101,688,663	R465S	probably damaging	Het
Reep3	G	T	10: 67,034,666	T117K	probably damaging	Het
Reln	G	T	5: 22,034,664	N868K	probably damaging	Het
Sdcbp	T	G	4: 6,385,120	I113S	probably damaging	Het
Sema4c	A	T	1: 36,550,200	V615E	possibly damaging	Het
Slc25a18	A	G	6: 120,788,288		probably null	Het
Tedc2	T	A	17: 24,216,317	E366V	probably damaging	Het
Tedc2	C	A	17: 24,216,318	E366*	probably null	Het
Uba2	A	T	7: 34,158,822	F70I	probably damaging	Het
Usp42	A	T	5: 143,718,041	H422Q	probably damaging	Het
Vmn2r86	C	T	10: 130,446,276	V824I	probably benign	Het
Vps50	A	C	6: 3,533,565	T266P	probably damaging	Het
Znhit6	T	A	3: 145,578,497	D141E	probably damaging	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31432990	missense	probably damaging	0.99
IGL01569:Mkln1	APN	6	31428128	splice site	probably benign
IGL01882:Mkln1	APN	6	31451534	missense	probably benign
IGL02009:Mkln1	APN	6	31449520	missense	probably benign	0.02
IGL02160:Mkln1	APN	6	31492791	splice site	probably benign
IGL02994:Mkln1	APN	6	31490443	missense	probably damaging	1.00
IGL03105:Mkln1	APN	6	31459059	nonsense	probably null
PIT4377001:Mkln1	UTSW	6	31474354	missense	probably damaging	1.00
R0376:Mkln1	UTSW	6	31478018	missense	probably benign	0.00
R0446:Mkln1	UTSW	6	31449504	missense	probably damaging	0.98
R0518:Mkln1	UTSW	6	31468132	missense	probably benign	0.00
R0600:Mkln1	UTSW	6	31432927	splice site	probably benign
R1248:Mkln1	UTSW	6	31489368	missense	probably damaging	1.00
R1717:Mkln1	UTSW	6	31507644	missense	probably benign
R1921:Mkln1	UTSW	6	31428178	missense	probably benign	0.22
R1978:Mkln1	UTSW	6	31490530	nonsense	probably null
R3836:Mkln1	UTSW	6	31468336	missense	probably damaging	1.00
R3895:Mkln1	UTSW	6	31507667	missense	probably damaging	1.00
R4456:Mkln1	UTSW	6	31426772	missense	probably damaging	1.00
R4513:Mkln1	UTSW	6	31433158	intron	probably benign
R4737:Mkln1	UTSW	6	31426799	missense	probably damaging	1.00
R4819:Mkln1	UTSW	6	31474486	missense	probably benign	0.00
R4960:Mkln1	UTSW	6	31459006	missense	probably damaging	1.00
R5291:Mkln1	UTSW	6	31490481	missense	possibly damaging	0.78
R5364:Mkln1	UTSW	6	31496712	missense	probably damaging	1.00
R5739:Mkln1	UTSW	6	31496702	missense	probably benign	0.00
R5797:Mkln1	UTSW	6	31433069	missense	probably benign	0.21
R5890:Mkln1	UTSW	6	31490547	missense	probably benign	0.02
R5940:Mkln1	UTSW	6	31489372	missense	probably damaging	1.00
R6132:Mkln1	UTSW	6	31431220	missense	probably damaging	0.98
R6521:Mkln1	UTSW	6	31490544	missense	probably damaging	1.00
R7362:Mkln1	UTSW	6	31468168	missense	probably benign	0.31
R7711:Mkln1	UTSW	6	31492649	missense	probably damaging	0.99
R8094:Mkln1	UTSW	6	31492653	nonsense	probably null
R8340:Mkln1	UTSW	6	31432943	missense	possibly damaging	0.53
R8379:Mkln1	UTSW	6	31458965	nonsense	probably null
R8972:Mkln1	UTSW	6	31496746	missense	probably damaging	1.00
R9403:Mkln1	UTSW	6	31432970	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31398921	missense	possibly damaging	0.74
Z1176:Mkln1	UTSW	6	31451554	missense	probably damaging	1.00

Predicted Primers

PCR Primer
(F):5'- TGGCATCCCAAGGAGTTAACCTATAACC -3'
(R):5'- CTTAGAGCAGAACAGCACTCAAGTCC -3'

Sequencing Primer
(F):5'- ctgctacagcctttattttgtttc -3'
(R):5'- atGTCAATAGGAAGTAAAAGTGTCTC -3'

Posted On

2013-11-18