Mutagenetix > Incidental Mutations

Incidental Mutation 'IGL02994:Mkln1'

407065

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 #

IGL02994

Quality Score

Status

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31490443 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Serine to Proline at position 31 (S31P)

Ref Sequence

ENSEMBL: ENSMUSP00000123048 (fasta)

Gene Model

predicted gene model for transcript(s): [ENSMUST00000026699] [ENSMUST00000130108]

AlphaFold

O89050

Predicted Effect

probably damaging
Transcript: ENSMUST00000026699
AA Change: S559P

PolyPhen 2 Score 0.996 (Sensitivity: 0.55; Specificity: 0.98)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: S559P

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

probably damaging
Transcript: ENSMUST00000130108
AA Change: S31P

PolyPhen 2 Score 0.999 (Sensitivity: 0.14; Specificity: 0.99)

SMART Domains

Protein: ENSMUSP00000123048
Gene: ENSMUSG00000025609
AA Change: S31P

Domain	Start	End	E-Value	Type
SCOP:d1k3ia3	1	93	8e-5	SMART

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000141045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000149859

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: 31 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
Acpp	T	A	9: 104,309,403		probably benign	Het
Ahnak2	A	G	12: 112,786,207	V137A	probably damaging	Het
Alk	G	T	17: 71,949,820	F681L	probably benign	Het
Ankrd35	T	C	3: 96,682,991		probably benign	Het
Aqp3	A	T	4: 41,093,614	C267S	probably benign	Het
Arl13b	T	A	16: 62,812,003	I76F	probably damaging	Het
Cdc42bpa	G	T	1: 179,999,437	R85L	probably damaging	Het
Ctgf	T	A	10: 24,596,865	N224K	probably damaging	Het
Dock4	T	G	12: 40,779,160	I1015R	probably damaging	Het
Dst	A	G	1: 34,229,252		probably benign	Het
Egfr	T	C	11: 16,911,811	Y1197H	probably damaging	Het
Endod1	A	G	9: 14,356,887	V434A	possibly damaging	Het
Exosc9	A	G	3: 36,553,138		probably benign	Het
Fgg	G	T	3: 83,008,474	R74L	probably benign	Het
Fmo2	A	T	1: 162,880,620	D315E	probably damaging	Het
H2afy	T	C	13: 56,104,299		probably benign	Het
H2-M3	G	A	17: 37,270,738	S97N	probably benign	Het
Ighv14-2	T	A	12: 113,994,591	T77S	probably benign	Het
Klhl9	A	T	4: 88,721,197	L269*	probably null	Het
Lin37	G	A	7: 30,557,160	R84W	probably damaging	Het
Nacad	A	G	11: 6,599,528	L1221P	possibly damaging	Het
Nbr1	A	T	11: 101,556,227	N13I	probably damaging	Het
Ndfip1	T	C	18: 38,452,416	I161T	probably damaging	Het
Nsg1	A	G	5: 38,155,602		probably benign	Het
Rsbn1l	G	T	5: 20,908,234	T430K	probably damaging	Het
Serpina6	A	G	12: 103,653,951	S180P	probably benign	Het
Slc4a5	T	C	6: 83,272,124	L570P	probably damaging	Het
Tank	A	G	2: 61,650,292		probably benign	Het
Tpd52	A	G	3: 8,947,530	F76L	probably benign	Het
Ubox5	A	C	2: 130,600,317	L150R	probably benign	Het
Zfp710	T	C	7: 80,081,833	S253P	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
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
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

2016-08-02