Mutagenetix > Incidental Mutation

Incidental Mutation 'IGL03105:Mkln1'

418900

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

Essential gene?

Possibly essential (E-score: 0.699) question?

Stock #

IGL03105

Quality Score

Status

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

nonsense

DNA Base Change (assembly)

G to T at 31459059 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Glutamic Acid to Stop codon at position 318 (E318*)

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 null
Transcript: ENSMUST00000026699
AA Change: E318*

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: E318*

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: 48 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Adssl1	A	G	12: 112,632,721	I129V	probably benign	Het
Ankrd35	A	G	3: 96,684,057	H553R	probably benign	Het
Brca2	A	G	5: 150,560,485	K2923R	probably benign	Het
Cadm3	A	T	1: 173,345,016	L174M	probably damaging	Het
Car10	T	C	11: 93,100,275	V17A	probably benign	Het
Cep290	A	G	10: 100,551,824	K1956E	possibly damaging	Het
Cfhr1	T	A	1: 139,547,827		probably benign	Het
Crim1	A	T	17: 78,315,750		probably benign	Het
Dedd	G	A	1: 171,340,918	R224H	probably damaging	Het
F7	A	T	8: 13,034,001	I229L	probably null	Het
Fam208a	T	A	14: 27,442,552	C272S	probably damaging	Het
Igkv17-121	A	T	6: 68,037,300	Q112L	probably damaging	Het
Kcnk13	G	A	12: 100,061,110	R148Q	probably damaging	Het
Klk13	T	C	7: 43,721,480	L51P	probably benign	Het
Ldb2	A	G	5: 44,799,373	S41P	possibly damaging	Het
Magi2	A	G	5: 20,543,618	D767G	probably damaging	Het
Mical3	T	C	6: 121,042,238	T8A	probably benign	Het
Mx1	C	T	16: 97,456,354	V68I	possibly damaging	Het
Mylk2	T	C	2: 152,917,359	V350A	possibly damaging	Het
Nav2	T	A	7: 49,464,879	S870R	probably damaging	Het
Olfr19	T	C	16: 16,673,526	T152A	probably benign	Het
Olfr66	A	G	7: 103,882,132	I37T	possibly damaging	Het
Olfr668	A	T	7: 104,925,764		probably benign	Het
Olfr828	T	C	9: 18,815,389	R302G	probably benign	Het
Onecut2	A	T	18: 64,341,508	K358*	probably null	Het
Orai3	A	G	7: 127,773,553		probably benign	Het
Ppp1r32	A	G	19: 10,477,020		probably benign	Het
Rad54b	A	G	4: 11,615,569	N859S	probably benign	Het
Sec23b	C	T	2: 144,582,020	R530W	probably damaging	Het
Slc25a35	T	C	11: 68,968,670	F3S	probably damaging	Het
Slc7a11	A	T	3: 50,372,339	I491K	possibly damaging	Het
Srrt	A	T	5: 137,299,844	N317K	possibly damaging	Het
Sspo	T	C	6: 48,473,658		probably benign	Het
Taf2	A	C	15: 55,045,799	D683E	probably benign	Het
Tcerg1l	G	T	7: 138,248,444		probably benign	Het
Tg	G	T	15: 66,715,106	V1578F	probably benign	Het
Tmem43	G	A	6: 91,480,700	G188D	probably damaging	Het
Tnfrsf8	T	C	4: 145,298,784	Y73C	probably damaging	Het
Ttc21a	A	G	9: 119,942,576	Y147C	probably benign	Het
Ttn	T	C	2: 76,778,050	D17843G	probably damaging	Het
Ttn	T	A	2: 76,812,177	D11592V	probably damaging	Het
Tubgcp5	T	A	7: 55,825,581	I842N	probably damaging	Het
Unc80	A	T	1: 66,472,099	T89S	probably damaging	Het
Usp28	T	C	9: 49,039,055	M928T	probably damaging	Het
Usp43	A	G	11: 67,879,976	S611P	possibly damaging	Het
Utp20	A	G	10: 88,791,096	V1000A	probably benign	Het
Zfp263	T	C	16: 3,748,960	C380R	probably damaging	Het
Zfyve1	A	C	12: 83,558,639	C14G	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
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	probably damaging	1.00
Z1176:Mkln1	UTSW	6	31398921	missense	possibly damaging	0.74
Z1176:Mkln1	UTSW	6	31451554	missense	probably damaging	1.00

Posted On

2016-08-02