Mutagenetix > Incidental Mutations

Incidental Mutation 'R1921:Mkln1'

213048

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

039939-MU

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R1921 (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 31428178 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Lysine to Arginine at position 118 (K118R)

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: K118R

PolyPhen 2 Score 0.218 (Sensitivity: 0.91; Specificity: 0.88)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: K118R

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

1x: 97.3%
3x: 96.7%
10x: 94.9%
20x: 91.3%

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: 86 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
9030624J02Rik	A	G	7: 118,833,748	N568S	probably damaging	Het
A2m	C	A	6: 121,654,612	L623M	probably benign	Het
Abhd2	T	C	7: 79,348,356	I212T	possibly damaging	Het
Adam7	A	C	14: 68,512,625	S449A	possibly damaging	Het
Alkbh2	C	T	5: 114,124,226	E148K	probably damaging	Het
Aox3	T	C	1: 58,180,651	Y1137H	probably damaging	Het
Atp11b	T	C	3: 35,834,325	Y715H	probably damaging	Het
Atrn	A	G	2: 130,995,051	Y1145C	probably damaging	Het
Btbd7	A	G	12: 102,793,796	I631T	probably benign	Het
Cadps	T	C	14: 12,465,859	K1017R	possibly damaging	Het
Cfap45	A	G	1: 172,545,112	E458G	probably damaging	Het
Cptp	C	T	4: 155,866,538	R157H	probably damaging	Het
Dcbld1	A	C	10: 52,319,651	E318D	possibly damaging	Het
Ddr2	G	T	1: 170,004,245	P197Q	probably damaging	Het
Dlg5	T	C	14: 24,176,571	Y421C	probably damaging	Het
Dlgap2	A	G	8: 14,843,624	K980E	probably benign	Het
Drc7	T	C	8: 95,056,016	V3A	unknown	Het
Dst	T	C	1: 34,161,029	V96A	probably damaging	Het
Ect2l	T	C	10: 18,143,004	D548G	possibly damaging	Het
Efcab10	A	T	12: 33,398,435	Y89F	probably benign	Het
Eif1ad	CGAGGAGGAGGAGGAGGAGG	CGAGGAGGAGGAGGAGG	19: 5,370,058		probably benign	Het
Entpd6	A	G	2: 150,758,812	T147A	probably damaging	Het
Fbxl5	T	A	5: 43,765,490	E189D	probably benign	Het
Fer1l6	T	A	15: 58,625,231	S1217T	probably damaging	Het
Frem2	A	T	3: 53,653,495	V1197D	possibly damaging	Het
Fsip2	T	A	2: 82,980,783	L2482*	probably null	Het
Fsip2	A	T	2: 82,986,820	D4299V	probably benign	Het
Gipc3	T	A	10: 81,338,215	I242F	probably damaging	Het
Hoxb1	T	A	11: 96,366,112	Y96N	probably damaging	Het
Ibsp	A	G	5: 104,310,212	E205G	probably damaging	Het
Ibtk	A	G	9: 85,703,082	S1170P	probably benign	Het
Igfn1	A	G	1: 135,966,063		probably null	Het
Iqsec1	A	G	6: 90,662,895	S954P	probably benign	Het
Kalrn	A	T	16: 34,392,093	D28E	probably benign	Het
Lrmda	T	C	14: 22,577,870	F52L	probably damaging	Het
Lrp2	T	C	2: 69,523,287	D543G	probably damaging	Het
Lrrtm3	T	C	10: 64,088,378	T337A	probably benign	Het
Marf1	C	T	16: 14,128,601	D1219N	possibly damaging	Het
Nedd4l	T	C	18: 65,167,575		probably null	Het
Neu2	A	G	1: 87,597,301	E336G	probably benign	Het
Nfasc	A	G	1: 132,610,805	F448S	probably damaging	Het
Nlrx1	C	A	9: 44,254,134	E822*	probably null	Het
Nr5a1	T	C	2: 38,694,096	Y437C	probably damaging	Het
Olfr1224-ps1	A	G	2: 89,156,581	V198A	probably benign	Het
Olfr1353	T	A	10: 78,970,141	L164*	probably null	Het
Olfr885	T	C	9: 38,061,685	Y122H	probably damaging	Het
Phtf1	C	T	3: 103,969,122	Q13*	probably null	Het
Pnldc1	A	G	17: 12,888,928	L525P	possibly damaging	Het
Ppl	T	A	16: 5,106,124	D162V	possibly damaging	Het
Prkdc	T	A	16: 15,714,215	S1448T	possibly damaging	Het
Ptgdr	A	G	14: 44,853,281	I340T	probably benign	Het
Recql	T	C	6: 142,365,589	I458M	probably benign	Het
Rrbp1	A	T	2: 143,988,291	V652E	probably benign	Het
Rtp1	T	A	16: 23,431,410	I175N	probably damaging	Het
Ryr1	A	G	7: 29,054,944	M3523T	probably damaging	Het
S100a16	T	C	3: 90,542,396	L62P	probably damaging	Het
Samd11	T	C	4: 156,248,709	E364G	probably damaging	Het
Satb1	C	A	17: 51,742,115	G603*	probably null	Het
Shroom3	T	A	5: 92,962,365		probably null	Het
Slc25a15	A	G	8: 22,395,761	S3P	probably benign	Het
Socs2	A	T	10: 95,413,038	L71*	probably null	Het
Sptbn1	T	C	11: 30,104,469	E2208G	probably damaging	Het
St14	A	G	9: 31,089,870	V855A	possibly damaging	Het
Susd1	T	A	4: 59,412,191	T121S	probably benign	Het
Svs3b	A	T	2: 164,255,928	S158T	probably benign	Het
Synpo	C	T	18: 60,603,589	M428I	probably benign	Het
Syt10	C	T	15: 89,790,776	D456N	probably damaging	Het
Taar4	A	G	10: 23,961,341	D283G	probably damaging	Het
Tango6	T	A	8: 106,688,794	D82E	probably benign	Het
Tcof1	T	C	18: 60,838,855	T127A	possibly damaging	Het
Tle3	G	A	9: 61,411,340		probably null	Het
Tmem45a	A	G	16: 56,822,302	F169L	probably benign	Het
Trp53rkb	T	A	2: 166,795,823	V233E	probably damaging	Het
Ttc7b	C	T	12: 100,415,130		probably null	Het
Tubgcp3	A	T	8: 12,621,932	L770*	probably null	Het
Tut1	G	A	19: 8,966,102	G851D	probably benign	Het
Ubr1	G	A	2: 120,930,968	T576I	probably benign	Het
Vmn1r125	T	A	7: 21,272,605	Y143N	probably damaging	Het
Vmn2r120	T	A	17: 57,524,839	I317F	probably benign	Het
Vmn2r95	T	A	17: 18,424,313	N70K	probably benign	Het
Wdr59	A	T	8: 111,486,950	L311*	probably null	Het
Wnt2	A	G	6: 18,030,253	L12P	unknown	Het
Xrn1	T	C	9: 95,999,497	I700T	probably benign	Het
Ypel1	A	G	16: 17,082,579	H98R	probably benign	Het
Zfp219	T	C	14: 52,008,234	T434A	probably benign	Het
Zik1	A	C	7: 10,490,016	C385G	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
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
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'- TCTTGAATATGCAGTGTGAGCAC -3'
(R):5'- ACCCTGTAAGAATCCTTCTAAGTGAG -3'

Sequencing Primer
(F):5'- GCACTGGCATAAGCTTAGCATTTG -3'
(R):5'- CAACAGGAATCTCTTCAGATGCTGG -3'

Posted On

2014-07-14