Mutagenetix > Incidental Mutations

Incidental Mutation 'R0518:Mkln1'

48289

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

038711-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R0518 (G1)

Quality Score

225

Status

Not validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

A to G at 31468132 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Asparagine to Serine at position 321 (N321S)

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: N321S

PolyPhen 2 Score 0.001 (Sensitivity: 0.99; Specificity: 0.15)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: N321S

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: ENSMUST00000141045

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000147614

Predicted Effect

noncoding transcript
Transcript: ENSMUST00000150949

Coding Region Coverage

1x: 99.2%
3x: 98.4%
10x: 96.6%
20x: 93.5%

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: 82 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
1700061G19Rik	T	A	17: 56,885,169	Y577*	probably null	Het
2900011O08Rik	T	A	16: 13,986,812	S8T	possibly damaging	Het
Acaca	A	G	11: 84,290,286		probably null	Het
Acsm5	T	C	7: 119,535,800	V327A	possibly damaging	Het
Agt	C	A	8: 124,557,100	E427*	probably null	Het
Akr1c14	T	C	13: 4,081,016	L236S	probably damaging	Het
Ammecr1l	C	T	18: 31,771,901	S65L	probably benign	Het
Ankrd33b	T	C	15: 31,367,286	D36G	probably damaging	Het
Ano8	A	T	8: 71,479,258	C766S	probably benign	Het
Arhgef16	G	T	4: 154,291,034	P168T	probably damaging	Het
Asic1	C	T	15: 99,698,819	R499C	probably damaging	Het
Bank1	C	T	3: 136,213,942	C364Y	probably damaging	Het
Cacna1s	C	A	1: 136,076,859	D132E	probably benign	Het
Capn5	C	T	7: 98,132,882	R217Q	probably damaging	Het
Clasrp	A	G	7: 19,588,603	I284T	probably benign	Het
Coa3	T	A	11: 101,278,890	K13M	probably damaging	Het
Col13a1	A	T	10: 61,862,746	M512K	unknown	Het
Colgalt2	G	T	1: 152,508,561	A551S	possibly damaging	Het
Crhbp	C	A	13: 95,443,895		probably null	Het
Cryba2	T	C	1: 74,890,125	Y153C	possibly damaging	Het
Cryzl2	T	C	1: 157,464,430	V93A	probably damaging	Het
Ctsl	G	A	13: 64,365,218	L297F	possibly damaging	Het
Cyp2r1	T	G	7: 114,552,900	H274P	probably benign	Het
Ddx4	A	T	13: 112,624,779		probably null	Het
Ddx58	C	T	4: 40,216,354		probably null	Het
Dnd1	A	G	18: 36,764,043	V350A	possibly damaging	Het
Dsg1b	A	T	18: 20,388,164	Q26L	probably benign	Het
Fam173b	T	G	15: 31,605,957	S20R	probably benign	Het
Fam20b	C	A	1: 156,687,456	V280F	possibly damaging	Het
Foxb2	G	T	19: 16,872,456	C395*	probably null	Het
Glb1	ACCC	ACC	9: 114,421,744		probably null	Het
Gm9930	A	T	10: 9,534,803		noncoding transcript	Het
Hdac7	G	A	15: 97,806,499	Q497*	probably null	Het
Hk3	C	T	13: 55,014,426		probably null	Het
Hsd3b7	A	G	7: 127,803,079	T330A	probably benign	Het
Il20ra	A	T	10: 19,759,640	Q543L	probably damaging	Het
Itk	T	A	11: 46,360,288	D163V	probably damaging	Het
Kcnu1	T	G	8: 25,910,888	L688R	probably damaging	Het
Kng1	G	A	16: 23,060,482	A45T	possibly damaging	Het
Kti12	T	A	4: 108,848,579	V230E	possibly damaging	Het
Mgat5	T	A	1: 127,384,847	I241N	probably damaging	Het
Mllt10	T	G	2: 18,071,206		probably null	Het
Ms4a1	C	A	19: 11,258,679		probably null	Het
Ngly1	C	T	14: 16,290,774	Q419*	probably null	Het
Nipsnap3b	T	A	4: 53,021,343	F243I	probably damaging	Het
Ogfod1	T	A	8: 94,055,248		probably null	Het
Olfr1381	C	T	11: 49,552,464	T239M	probably damaging	Het
Olfr624	T	A	7: 103,670,489	I181F	possibly damaging	Het
Olfr714	T	A	7: 107,074,758	L310Q	possibly damaging	Het
Olfr898	A	C	9: 38,349,203	N40T	probably damaging	Het
P2ry14	T	A	3: 59,115,204	E287D	probably damaging	Het
Pank4	A	T	4: 154,976,625	R510S	possibly damaging	Het
Pcsk6	T	A	7: 65,980,167	V347E	possibly damaging	Het
Peg3	T	C	7: 6,711,428	E265G	probably damaging	Het
Pik3c2b	C	A	1: 133,105,992	P1578H	probably damaging	Het
Pkd1	A	G	17: 24,595,219	S4188G	probably benign	Het
Ppp1r26	A	G	2: 28,452,302	D648G	probably damaging	Het
Ptprs	A	G	17: 56,419,621		probably null	Het
Rab24	A	T	13: 55,320,925		probably null	Het
Rap1gap2	A	T	11: 74,441,766	M71K	probably damaging	Het
Rergl	T	G	6: 139,496,526	K42T	probably damaging	Het
Sept5	T	C	16: 18,624,897	T92A	probably benign	Het
Ski	A	G	4: 155,159,286		probably null	Het
Slc17a8	A	G	10: 89,576,330	S414P	probably benign	Het
Slc25a36	A	T	9: 97,097,175	I71N	probably damaging	Het
Syne2	A	C	12: 76,108,862		probably null	Het
Tdrd5	C	A	1: 156,262,941	W845L	probably damaging	Het
Tfb2m	T	C	1: 179,537,824	I192V	possibly damaging	Het
Tll1	T	G	8: 64,098,471	D292A	probably damaging	Het
Tmem211	T	A	5: 113,236,007	L97*	probably null	Het
Trank1	A	C	9: 111,333,808	D45A	probably damaging	Het
Trim17	T	A	11: 58,968,494	V178E	probably damaging	Het
Trim9	A	T	12: 70,346,585	L195Q	probably damaging	Het
Ttc27	A	T	17: 74,856,549	R717S	possibly damaging	Het
Upk2	G	T	9: 44,454,121	P50Q	probably damaging	Het
Usp9y	A	T	Y: 1,307,880	C2319S	probably benign	Het
Vmn1r4	G	T	6: 56,956,898	C129F	probably benign	Het
Vmn2r100	A	T	17: 19,521,916	D184V	probably damaging	Het
Wdr78	A	C	4: 103,064,530	Y464*	probably null	Het
Xpnpep3	T	G	15: 81,427,492	I133S	possibly damaging	Het
Zfp628	A	T	7: 4,919,940	Q387L	probably damaging	Het
Zic2	CCCACCACCACCATCACCACCACCACC	CCCACCATCACCACCACCACC	14: 122,476,364		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
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
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	not run
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'- GCCTGTTTCCTGGCAGATTTAAAACAC -3'
(R):5'- ACACCAACTTTGGTCCACCGTC -3'

Sequencing Primer
(F):5'- CTGGCAGATTTAAAACACTTGTAGGG -3'
(R):5'- CGGCAGCAGTATCTTCACTTAG -3'

Posted On

2013-06-12