Mutagenetix > Incidental Mutations

Incidental Mutation 'PIT4377001:Mkln1'

554917

Institutional Source

Beutler Lab

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 #

PIT4377001 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

C to T at 31474354 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Threonine to Methionine at position 410 (T410M)

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: T410M

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

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: T410M

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

Coding Region Coverage

1x: 92.9%
3x: 90.8%
10x: 85.9%
20x: 75.6%

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: 61 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700009N14Rik	T	C	4: 39,451,129	C112R	possibly damaging	Het
Acadl	G	A	1: 66,838,405	T329M	probably damaging	Het
Adgrv1	A	G	13: 81,528,985	L1909P	probably damaging	Het
Aff3	A	C	1: 38,538,963	V31G	probably damaging	Het
Bag3	A	G	7: 128,545,717	D352G	probably damaging	Het
Bcas3	A	T	11: 85,495,842	T368S	probably damaging	Het
Bmp3	A	G	5: 98,879,749	I434V	unknown	Het
Casq1	T	A	1: 172,212,001	T336S	probably benign	Het
Cib2	T	G	9: 54,559,987	E11A	probably damaging	Het
Cttn	C	A	7: 144,440,096	E393D	possibly damaging	Het
Dchs1	G	A	7: 105,757,588	R2237W	probably damaging	Het
Dclre1a	C	T	19: 56,544,405	A586T	probably benign	Het
Defb1	C	A	8: 21,776,700	Q17K	possibly damaging	Het
Dgat2	T	C	7: 99,157,135	Y285C	probably damaging	Het
Dhx57	A	T	17: 80,263,975	F732Y	probably damaging	Het
Dock2	T	G	11: 34,721,008	D176A	probably benign	Het
Epha6	A	G	16: 60,205,552	I509T	probably damaging	Het
Fblim1	C	T	4: 141,595,409	R21H	probably damaging	Het
Fbxw20	T	A	9: 109,221,727	H371L	probably benign	Het
Foxa1	T	A	12: 57,542,781	I218F	probably damaging	Het
Fstl1	A	T	16: 37,815,805	I53F	probably benign	Het
Gdnf	A	G	15: 7,834,530	R141G	probably benign	Het
Gemin7	G	A	7: 19,565,317	R118*	probably null	Het
Gm43218	T	C	6: 70,240,581	T64A	probably benign	Het
Gnat3	G	A	5: 18,015,559	M243I		Het
Gramd1a	A	T	7: 31,143,670	I71N	possibly damaging	Het
Hist1h4k	C	G	13: 21,750,484	G8R	unknown	Het
Htt	A	T	5: 34,875,965	D1859V	probably benign	Het
Hyal1	T	C	9: 107,579,269	F415S	probably damaging	Het
Ighv1-47	T	C	12: 114,991,238	N74S	probably benign	Het
Igkv1-131	T	C	6: 67,766,208	R64G	probably benign	Het
Itgb1	T	A	8: 128,710,383	V95D	probably damaging	Het
Jak1	A	C	4: 101,179,551	N297K	probably benign	Het
Kcna4	T	A	2: 107,296,860	N646K	possibly damaging	Het
Krt42	A	G	11: 100,263,105	S442P	probably damaging	Het
Mcm3ap	G	A	10: 76,502,762	S1408N	possibly damaging	Het
Mdga2	T	A	12: 66,716,695	Q278L	probably damaging	Het
Nav3	T	C	10: 109,716,605	E1792G	probably damaging	Het
Ndrg1	A	G	15: 66,948,439	C49R	probably benign	Het
Neurl4	A	G	11: 69,910,406	H1201R	probably benign	Het
Nfasc	T	C	1: 132,583,066	Y1073C	unknown	Het
Nrbp2	A	G	15: 76,087,096	Y253H	probably benign	Het
Olfr1279	T	A	2: 111,306,880	V225D	probably damaging	Het
Olfr1295	T	C	2: 111,565,211	T78A	probably damaging	Het
Olfr95	T	A	17: 37,211,089	I255F	probably benign	Het
Pcsk5	A	T	19: 17,439,102	C1661S	probably damaging	Het
Qsox2	T	G	2: 26,220,912	D147A	probably damaging	Het
Siglec15	T	A	18: 78,057,375		probably benign	Het
Skint5	T	A	4: 113,597,703	T1011S	unknown	Het
Slc9a2	A	G	1: 40,743,841	T422A	probably damaging	Het
Tert	C	T	13: 73,628,261	T377I	possibly damaging	Het
Tex15	T	A	8: 33,571,101	S186R	probably damaging	Het
Tgfb1	A	G	7: 25,696,918	D212G	probably benign	Het
Tnc	T	G	4: 64,017,736	D321A	probably damaging	Het
Topbp1	G	A	9: 103,309,889	E98K	possibly damaging	Het
Ugp2	C	A	11: 21,370,203	M1I	probably null	Het
Vipr2	G	A	12: 116,094,798	D112N	probably benign	Het
Vps13a	T	C	19: 16,740,901	E485G	probably damaging	Het
Vps37a	T	A	8: 40,537,046	I198N	possibly damaging	Het
Zbtb9	T	C	17: 26,974,761	V380A	probably damaging	Het
Zfhx4	G	C	3: 5,242,742	V343L	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
IGL03105:Mkln1	APN	6	31459059	nonsense	probably null
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

Predicted Primers

PCR Primer
(F):5'- CTATCCTGAATTTCTGGACAGTATGTG -3'
(R):5'- TACTGAGTGGAACAGCATGC -3'

Sequencing Primer
(F):5'- GGCATGTATTTAGCATCATTAAGAGC -3'
(R):5'- ATGCAGTGTCCAATCCGAG -3'

Posted On

2019-06-07