Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL01882:Mkln1'

179041

Institutional Source

Australian Phenomics Network (link to record)

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

A130067F06Rik

Accession Numbers

Essential gene?

Possibly essential (E-score: 0.739) question?

Stock #

IGL01882

Quality Score

Status

Chromosome

Chromosomal Location

31375670-31493746 bp(+) (GRCm39)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31428469 bp (GRCm39)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 266 (N266S)

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
AA Change: N266S

PolyPhen 2 Score 0.000 (Sensitivity: 1.00; Specificity: 0.00)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: N266S

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: ENSMUST00000147614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150949

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: 13 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acsm3	T	C	7: 119,373,858 (GRCm39)	L248S	probably damaging	Het
Arhgef17	A	T	7: 100,527,787 (GRCm39)	C734*	probably null	Het
Bcat1	G	A	6: 144,950,135 (GRCm39)	T354M	probably damaging	Het
Fancd2	T	C	6: 113,523,601 (GRCm39)	V246A	probably benign	Het
Gm10717	C	T	9: 3,025,616 (GRCm39)	S67L	probably benign	Het
Gm21738	G	A	14: 19,416,979 (GRCm38)	S144L	probably benign	Het
Gm3696	G	T	14: 18,433,062 (GRCm39)	Q199K	probably benign	Het
Ifna2	A	G	4: 88,601,979 (GRCm39)	V13A	possibly damaging	Het
Letm1	A	G	5: 33,927,009 (GRCm39)	V96A	probably benign	Het
Mcm3ap	A	G	10: 76,319,018 (GRCm39)	I749V	possibly damaging	Het
Or8b35	A	G	9: 37,903,856 (GRCm39)	T18A	probably damaging	Het
Pdia4	A	G	6: 47,780,412 (GRCm39)	L307P	probably benign	Het
Ptprz1	C	T	6: 23,000,463 (GRCm39)	P851L	probably damaging	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
IGL01138:Mkln1	APN	6	31,409,925 (GRCm39)	missense	probably damaging	0.99
IGL01569:Mkln1	APN	6	31,405,063 (GRCm39)	splice site	probably benign
IGL02009:Mkln1	APN	6	31,426,455 (GRCm39)	missense	probably benign	0.02
IGL02160:Mkln1	APN	6	31,469,726 (GRCm39)	splice site	probably benign
IGL02994:Mkln1	APN	6	31,467,378 (GRCm39)	missense	probably damaging	1.00
IGL03105:Mkln1	APN	6	31,435,994 (GRCm39)	nonsense	probably null
PIT4377001:Mkln1	UTSW	6	31,451,289 (GRCm39)	missense	probably damaging	1.00
R0376:Mkln1	UTSW	6	31,454,953 (GRCm39)	missense	probably benign	0.00
R0446:Mkln1	UTSW	6	31,426,439 (GRCm39)	missense	probably damaging	0.98
R0518:Mkln1	UTSW	6	31,445,067 (GRCm39)	missense	probably benign	0.00
R0600:Mkln1	UTSW	6	31,409,862 (GRCm39)	splice site	probably benign
R1066:Mkln1	UTSW	6	31,395,922 (GRCm39)	missense	possibly damaging	0.85
R1248:Mkln1	UTSW	6	31,466,303 (GRCm39)	missense	probably damaging	1.00
R1717:Mkln1	UTSW	6	31,484,579 (GRCm39)	missense	probably benign
R1921:Mkln1	UTSW	6	31,405,113 (GRCm39)	missense	probably benign	0.22
R1978:Mkln1	UTSW	6	31,467,465 (GRCm39)	nonsense	probably null
R3836:Mkln1	UTSW	6	31,445,271 (GRCm39)	missense	probably damaging	1.00
R3895:Mkln1	UTSW	6	31,484,602 (GRCm39)	missense	probably damaging	1.00
R4456:Mkln1	UTSW	6	31,403,707 (GRCm39)	missense	probably damaging	1.00
R4513:Mkln1	UTSW	6	31,410,093 (GRCm39)	intron	probably benign
R4737:Mkln1	UTSW	6	31,403,734 (GRCm39)	missense	probably damaging	1.00
R4819:Mkln1	UTSW	6	31,451,421 (GRCm39)	missense	probably benign	0.00
R4960:Mkln1	UTSW	6	31,435,941 (GRCm39)	missense	probably damaging	1.00
R5291:Mkln1	UTSW	6	31,467,416 (GRCm39)	missense	possibly damaging	0.78
R5364:Mkln1	UTSW	6	31,473,647 (GRCm39)	missense	probably damaging	1.00
R5739:Mkln1	UTSW	6	31,473,637 (GRCm39)	missense	probably benign	0.00
R5797:Mkln1	UTSW	6	31,410,004 (GRCm39)	missense	probably benign	0.21
R5890:Mkln1	UTSW	6	31,467,482 (GRCm39)	missense	probably benign	0.02
R5940:Mkln1	UTSW	6	31,466,307 (GRCm39)	missense	probably damaging	1.00
R6132:Mkln1	UTSW	6	31,408,155 (GRCm39)	missense	probably damaging	0.98
R6521:Mkln1	UTSW	6	31,467,479 (GRCm39)	missense	probably damaging	1.00
R7362:Mkln1	UTSW	6	31,445,103 (GRCm39)	missense	probably benign	0.31
R7711:Mkln1	UTSW	6	31,469,584 (GRCm39)	missense	probably damaging	0.99
R8094:Mkln1	UTSW	6	31,469,588 (GRCm39)	nonsense	probably null
R8340:Mkln1	UTSW	6	31,409,878 (GRCm39)	missense	possibly damaging	0.53
R8379:Mkln1	UTSW	6	31,435,900 (GRCm39)	nonsense	probably null
R8972:Mkln1	UTSW	6	31,473,681 (GRCm39)	missense	probably damaging	1.00
R9403:Mkln1	UTSW	6	31,409,905 (GRCm39)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,428,489 (GRCm39)	missense	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31,375,856 (GRCm39)	missense	possibly damaging	0.74

Posted On

2014-05-07