Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL01138:Mkln1'

51374

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 #

IGL01138

Quality Score

Status

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to T at 31432990 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Tyrosine at position 188 (N188Y)

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 damaging
Transcript: ENSMUST00000026699
AA Change: N188Y

PolyPhen 2 Score 0.987 (Sensitivity: 0.73; Specificity: 0.96)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: N188Y

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: 43 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4930486L24Rik	A	G	13: 60,854,859	V27A	probably benign	Het
Abcg5	T	A	17: 84,664,847	R499S	possibly damaging	Het
Adamts13	T	C	2: 26,983,042	S341P	probably damaging	Het
Adgrg1	T	A	8: 95,003,457	C96S	probably damaging	Het
Arhgap44	A	G	11: 65,041,449	F215S	probably damaging	Het
Arhgef25	A	G	10: 127,184,170	F400L	probably damaging	Het
Baz1a	T	C	12: 54,930,325	E384G	probably damaging	Het
Col12a1	T	C	9: 79,678,053	D1314G	probably damaging	Het
Col6a3	T	A	1: 90,807,510	I806F	probably damaging	Het
Coro1c	G	A	5: 113,852,161		probably benign	Het
CT030661.1	G	A	17: 22,202,668		probably benign	Het
Dnmt3b	A	T	2: 153,661,441	D4V	probably benign	Het
Ermn	G	T	2: 58,052,695	L8M	possibly damaging	Het
F13b	T	A	1: 139,517,212	N533K	probably damaging	Het
Fam171a1	T	C	2: 3,202,620	V93A	possibly damaging	Het
Fam84b	T	A	15: 60,823,118	I260F	probably damaging	Het
Gpr107	T	A	2: 31,172,016	L152Q	probably benign	Het
Guca1a	C	A	17: 47,400,384	E12D	probably damaging	Het
Igtp	A	G	11: 58,206,144	N47S	possibly damaging	Het
Lrrc8e	A	G	8: 4,234,084	N103S	probably damaging	Het
Lsmem1	A	G	12: 40,180,699	L68P	probably damaging	Het
Maml3	A	G	3: 51,690,558	S902P	possibly damaging	Het
Mlxip	C	T	5: 123,450,156	R771W	probably damaging	Het
Myf6	T	C	10: 107,494,398	R103G	probably damaging	Het
Ncam2	T	A	16: 81,517,579	I481K	probably damaging	Het
Nrap	T	A	19: 56,355,538	S645C	probably damaging	Het
Nup205	G	T	6: 35,208,084	E813*	probably null	Het
Olfr157	A	G	4: 43,835,617	L291P	probably damaging	Het
Plekhg5	C	T	4: 152,106,978	R410W	probably damaging	Het
Pnmal2	C	A	7: 16,945,163	T24K	unknown	Het
Polq	A	T	16: 37,045,869	Y476F	possibly damaging	Het
Prkd2	T	C	7: 16,848,811	S200P	probably damaging	Het
Rif1	C	A	2: 52,111,522	L1663I	probably damaging	Het
Serpina5	A	G	12: 104,103,744	Y300C	possibly damaging	Het
Shroom4	T	C	X: 6,585,203	S806P	probably damaging	Het
Sirpa	T	C	2: 129,630,165	V290A	probably damaging	Het
Slc25a47	C	T	12: 108,856,022	R246C	probably damaging	Het
Slc9a6	A	G	X: 56,623,431	D199G	probably damaging	Het
Smarca5	T	A	8: 80,701,076	K1048M	possibly damaging	Het
Sos2	C	T	12: 69,616,849		probably benign	Het
Trpm5	T	A	7: 143,074,569	M990L	probably benign	Het
Vmn2r99	A	T	17: 19,382,623	T547S	probably damaging	Het
Vps13b	T	C	15: 35,446,770		probably benign	Het

Other mutations in Mkln1

Allele	Source	Chr	Coord	Type	Predicted Effect	PPH Score
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
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

2013-06-21