Mutagenetix > Incidental Mutations

Incidental Mutation 'R7362:Mkln1'

571408

Institutional Source

Beutler Lab

Gene Symbol

Mkln1

Ensembl Gene

ENSMUSG00000025609

Gene Name

muskelin 1, intracellular mediator containing kelch motifs

Synonyms

MMRRC Submission

Accession Numbers

Is this an essential gene?

Probably essential (E-score: 0.751) question?

Stock #

R7362 (G1)

Quality Score

225.009

Status

Not validated

Chromosome

Chromosomal Location

31398735-31516811 bp(+) (GRCm38)

Type of Mutation

missense

DNA Base Change (assembly)

T to C at 31468168 bp (GRCm38)

Zygosity

Heterozygous

Amino Acid Change

Isoleucine to Threonine at position 333 (I333T)

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: I333T

PolyPhen 2 Score 0.312 (Sensitivity: 0.90; Specificity: 0.89)

SMART Domains

Protein: ENSMUSP00000026699
Gene: ENSMUSG00000025609
AA Change: I333T

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: 100.0%
3x: 100.0%
10x: 99.7%
20x: 99.1%

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: 52 list
Gene	Ref	Var	Chr/Loc	Mutation	Predicted Effect	Zygosity
4932415D10Rik	T	A	10: 82,292,997	Q1393L	possibly damaging	Het
Adprhl1	C	T	8: 13,245,534	R193K	probably damaging	Het
Aoc1	G	T	6: 48,905,411	V74L	probably benign	Het
Bfsp1	G	C	2: 143,826,875	P601A	probably benign	Het
Bicd1	A	C	6: 149,484,093	K108T	probably benign	Het
Btbd18	C	T	2: 84,661,543	Q23*	probably null	Het
Ccser1	A	G	6: 61,810,880	I227M	unknown	Het
Cd151	G	A	7: 141,469,589	V70I	probably benign	Het
Cdh10	A	G	15: 18,899,694	T36A	probably benign	Het
Crb2	A	G	2: 37,790,199	T380A	probably benign	Het
Csmd3	A	C	15: 47,755,992	S1829A	possibly damaging	Het
Dgat2	A	T	7: 99,154,636	H359Q	probably damaging	Het
Dhdds	T	C	4: 133,971,130	T298A	probably benign	Het
Egfem1	A	G	3: 29,151,920	Q102R	probably benign	Het
Eps15	T	A	4: 109,366,242		probably null	Het
Ern1	T	A	11: 106,437,123	D61V	probably damaging	Het
Fcamr	G	A	1: 130,814,023	R511Q	possibly damaging	Het
Grhpr	T	C	4: 44,987,255	V213A	probably benign	Het
Gsx2	A	G	5: 75,076,104	D115G	possibly damaging	Het
Hoxd3	A	G	2: 74,744,219	I70V	possibly damaging	Het
Inpp5a	A	G	7: 139,578,380	I408V	probably benign	Het
Kansl3	A	T	1: 36,344,127	D759E	possibly damaging	Het
Lrrc37a	T	G	11: 103,457,509	T2787P	unknown	Het
Mier3	G	A	13: 111,705,249	G115S	possibly damaging	Het
Myt1	T	A	2: 181,797,240	V227D	probably benign	Het
Olfr403	T	C	11: 74,195,586	F28L	probably benign	Het
Olfr593	T	A	7: 103,212,654	Y265N	probably damaging	Het
Olfr863-ps1	C	T	9: 19,942,231	D70N	probably damaging	Het
Pcf11	A	G	7: 92,653,245	L1219P	possibly damaging	Het
Pde6g	T	C	11: 120,448,124	E80G	probably damaging	Het
Pkd1l3	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	GACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCAACAAACATGACATCAGACACACCTGCATCCAGCAGCCCA	8: 109,624,195		probably benign	Het
Ppp3cb	T	A	14: 20,523,651	Q304L	probably benign	Het
Prr19	T	C	7: 25,303,918	L319P	probably damaging	Het
Prss23	C	T	7: 89,509,764	A366T	probably damaging	Het
Rock2	T	C	12: 16,958,421	L560P	probably damaging	Het
Simc1	A	T	13: 54,539,704	R95S	probably damaging	Het
Slc10a6	A	T	5: 103,629,126	V36E	probably damaging	Het
Slco1c1	A	T	6: 141,569,463	T695S	probably benign	Het
Ssh2	T	C	11: 77,449,650	F543L	probably benign	Het
Tecpr2	T	A	12: 110,941,476	V999D	possibly damaging	Het
Tnfsf10	A	T	3: 27,335,348	Y186F	probably damaging	Het
Tnk2	A	T	16: 32,675,520		probably null	Het
Tram1	T	C	1: 13,589,608	M39V	probably benign	Het
Uck2	C	T	1: 167,237,642	V36I	possibly damaging	Het
Ugcg	T	A	4: 59,217,109	M211K	probably damaging	Het
Vash2	A	T	1: 190,960,299	S226R	probably damaging	Het
Vmn1r172	T	A	7: 23,660,416	M242K	probably damaging	Het
Vmn2r82	A	T	10: 79,396,617	M817L	probably benign	Het
Vwa5b1	T	C	4: 138,594,312	N390S	probably damaging	Het
Wdr73	T	A	7: 80,900,703	D17V	probably damaging	Het
Wdr91	A	T	6: 34,889,115	S501T	possibly damaging	Het
Zfp454	A	G	11: 50,886,367		probably null	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
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
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'- GGTAAAGTTTGTGTCTCCCACTG -3'
(R):5'- GAGCAAAGGTCACTCAGCAC -3'

Sequencing Primer
(F):5'- AAGTTTGTGTCTCCCACTGATACTTC -3'
(R):5'- GGTCACTCAGCACTATTAACTCTAC -3'

Posted On

2019-09-13