Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01569:Mkln1'

91103

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

IGL01569

Quality Score

Status

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

splice site

DNA Base Change (assembly)

A to G at 31428128 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

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

probably benign
Transcript: ENSMUST00000026699

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609

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: ENSMUST00000134315

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000134544

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000137621

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150949

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000154954

Coding Region Coverage

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: 25 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700010I14Rik	T	C	17: 8,996,995	V311A	probably benign	Het
Bdh1	T	C	16: 31,455,091	M194T	probably benign	Het
Dnmbp	T	C	19: 43,874,856	R808G	probably benign	Het
Esco2	T	C	14: 65,826,528	I402M	probably benign	Het
Gm5422	T	C	10: 31,249,901		noncoding transcript	Het
Il5ra	C	A	6: 106,731,833	M1I	probably null	Het
Kcnk4	T	A	19: 6,927,177	I240F	probably damaging	Het
Mast4	T	C	13: 102,761,015	E698G	probably damaging	Het
Mypn	C	T	10: 63,127,759	G978R	probably damaging	Het
Olfr164	T	C	16: 19,286,660	T28A	probably benign	Het
Podn	T	A	4: 108,024,299	Y6F	probably damaging	Het
Psmg2	G	A	18: 67,653,223	V218I	probably benign	Het
Rad54l	T	C	4: 116,098,998	D544G	probably damaging	Het
Reck	C	A	4: 43,925,172	S470R	probably benign	Het
Sik3	A	G	9: 46,211,726	H891R	probably benign	Het
Tbata	C	T	10: 61,175,960	R92*	probably null	Het
Tcrg-V4	A	G	13: 19,185,508		probably benign	Het
Tdrd1	A	G	19: 56,834,409	N103S	probably damaging	Het
Timm21	A	G	18: 84,951,275	V8A	probably benign	Het
Tnn	A	G	1: 160,120,554	V863A	possibly damaging	Het
Togaram1	A	G	12: 64,982,662	D953G	possibly damaging	Het
Tpm1	T	C	9: 67,031,108		probably null	Het
Vmn1r8	A	T	6: 57,036,287	N108Y	possibly damaging	Het
Vmn1r89	T	C	7: 13,219,505	M56T	probably benign	Het
Ythdc2	A	G	18: 44,887,651	E1434G	probably benign	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31432990	missense	probably damaging	0.99
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
R1066:Mkln1	UTSW	6	31418987	missense	possibly damaging	0.85
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	not run
Z1176:Mkln1	UTSW	6	31398921	missense	possibly damaging	0.74
Z1176:Mkln1	UTSW	6	31451554	missense	probably damaging	1.00

Posted On

2013-12-09